Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID transcript_name strand transcript_status amino_acid_change ucsc_cons normal_depth normal_vaf tumor_depth tumor_vaf rna_depth rna_vaf polyphen sift condel domain NOC2L 26155 genome.wustl.edu 37 1 887795 887795 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015658.3 -1 validated p.K396N 1.000 39 0% 86 43% 195 41.5% benign(0.235) deleterious(0) neutral(0.468) HMMPfam_Noc2 PLEKHN1 84069 genome.wustl.edu 37 1 905738 905738 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032129.2 +1 validated p.P89S 0.859 90 0% 108 38% 1 0% possibly_damaging(0.513) tolerated(0.63) neutral(0.176) superfamily_SSF50729 CCNL2 81669 genome.wustl.edu 37 1 1330823 1330823 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_030937.4 -1 validated p.R182Q 1.000 280 0% 350 41.4% 81 50.6% probably_damaging(0.976) deleterious(0) deleterious(0.863) HMMSmart_SM00385,HMMPfam_Cyclin_N,superfamily_Cyclin-like MRPL20 55052 genome.wustl.edu 37 1 1337530 1337530 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017971.3 -1 reviewed p.F128C 0.994 77 0% 91 26.4% 180 31.6% possibly_damaging(0.626) tolerated(0.11) deleterious(0.490) NULL CDK11A 728642 genome.wustl.edu 37 1 1650877 1650877 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024011.2 -1 reviewed p.S82Y 1.000 490 0% 637 19.9% 10 10% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) NULL KIAA1751 85452 genome.wustl.edu 37 1 1888104 1888104 + Silent SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001080484.1 -1 predicted p.A657 0.000 79 0% 138 39.9% 0 - - - - NULL KIAA1751 85452 genome.wustl.edu 37 1 1918435 1918435 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001080484.1 -1 predicted p.I112 0.000 24 0% 23 43.5% 1 100% - - - NULL C1orf86 199990 genome.wustl.edu 37 1 2129535 2129535 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000378545 -1 known p.A94 0.000 358 0% 464 45% 2 0% - - - NULL PLCH2 9651 genome.wustl.edu 37 1 2411650 2411650 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014638.2 +1 provisional p.D182N 0.998 57 0% 48 43.8% 3 33.3% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00054,PatternScan_EF_HAND_1,HMMPfam_efhand ACTRT2 140625 genome.wustl.edu 37 1 2938643 2938643 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_080431.4 +1 reviewed p.F131 0.909 47 0% 62 12.9% 0 - - - - HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain CCDC27 148870 genome.wustl.edu 37 1 3683172 3683172 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152492.2 +1 validated p.R509Q 1.000 113 0% 159 47.8% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL CEP104 9731 genome.wustl.edu 37 1 3750433 3750433 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014704.3 -1 validated p.F551C 0.999 153 0% 208 48.6% 6 50% probably_damaging(1) deleterious(0.02) deleterious(0.883) superfamily_ARM repeat DFFB 1677 genome.wustl.edu 37 1 3782441 3782441 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004402.2 +1 reviewed p.A103T 0.965 31 0% 45 35.6% 5 40% probably_damaging(0.999) deleterious(0.03) deleterious(0.855) superfamily_His-Me finger endonucleases C1orf174 339448 genome.wustl.edu 37 1 3807506 3807506 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_207356.2 -1 validated p.S82Y 0.016 104 0% 134 54.5% 45 53.3% possibly_damaging(0.902) deleterious(0) deleterious(0.801) NULL NPHP4 261734 genome.wustl.edu 37 1 6021860 6021860 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015102.2 -1 reviewed p.E223K 0.959 112 0% 115 38.3% 1 100% benign(0.418) tolerated(0.33) neutral(0.160) NULL NPHP4 261734 genome.wustl.edu 37 1 6027397 6027397 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015102.2 -1 reviewed p.R160I 0.999 67 0% 65 12.3% 2 50% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL CHD5 26038 genome.wustl.edu 37 1 6172218 6172218 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015557.1 -1 provisional p.A1708T 1.000 235 0% 282 49.6% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL ZBTB48 3104 genome.wustl.edu 37 1 6641284 6641284 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005341.2 +1 validated p.K205N 0.998 25 0% 34 50% 2 50% probably_damaging(0.978) tolerated(0.25) neutral(0.457) NULL CAMTA1 23261 genome.wustl.edu 37 1 7798196 7798196 + Missense_Mutation SNP C C A rs34424518 TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015215.1 +1 validated p.S1279Y 1.000 91 0% 101 54.5% 0 - possibly_damaging(0.801) deleterious(0) deleterious(0.746) NULL ERRFI1 54206 genome.wustl.edu 37 1 8073738 8073738 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018948.3 -1 validated p.S307 0.263 271 0% 315 44.1% 29 31% - - - NULL SPSB1 80176 genome.wustl.edu 37 1 9416618 9416618 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_025106.3 +1 validated p.R223Q 1.000 123 0% 168 43.5% 24 25% benign(0.019) deleterious(0.02) neutral(0.384) HMMPfam_SPRY,HMMSmart_SPRY KIF1B 23095 genome.wustl.edu 37 1 10421883 10421883 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015074.3 +1 reviewed p.S1389L 1.000 98 0% 123 46.3% 12 41.6% benign(0.309) tolerated(0.09) neutral(0.393) NULL CORT 1325 genome.wustl.edu 37 1 10510278 10510278 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001302.3 +1 reviewed p.K50E 0.000 48 0% 63 38.1% 3 66.6% unknown(0) deleterious(0) - NULL PEX14 5195 genome.wustl.edu 37 1 10687419 10687419 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004565.2 +1 reviewed p.R226W 1.000 107 0% 137 45.3% 40 37.5% probably_damaging(1) deleterious(0) deleterious(0.945) NULL EXOSC10 5394 genome.wustl.edu 37 1 11134347 11134347 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001001998.1 -1 validated p.T675A 0.955 440 0% 511 38.9% 24 50% benign(0.311) tolerated(0.24) neutral(0.135) NULL MTOR 2475 genome.wustl.edu 37 1 11190804 11190804 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004958.3 -1 reviewed p.E1799K 1.000 216 0% 282 44.7% 122 45% possibly_damaging(0.722) tolerated(0.17) neutral(0.321) HMMPfam_FAT,superfamily_ARM-type_fold MTOR 2475 genome.wustl.edu 37 1 11316174 11316174 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004958.3 -1 reviewed p.I194V 1.000 68 0% 77 45.5% 29 58.6% probably_damaging(0.973) tolerated(0.07) deleterious(0.734) superfamily_ARM-type_fold VPS13D 55187 genome.wustl.edu 37 1 12337268 12337274 + Frame_Shift_Del DEL GTAGCAC GTAGCAC - novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 GTAGCAC GTAGCAC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015378.2 +1 reviewed p.S1209fs 1.000:0.001:0.960:0.951:0.905:0.839:0.052 - - - - - - - - - NULL VPS13D 55187 genome.wustl.edu 37 1 12414055 12414055 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015378.2 +1 reviewed p.E3152D 0.999 235 0.9% 291 34.7% 3 66.6% benign(0.018) tolerated(0.06) neutral(0.323) NULL VPS13D 55187 genome.wustl.edu 37 1 12439596 12439596 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000011700 +1 known p.R2534H 0.099 127 0% 185 44.9% 5 80% - - - NULL PRAMEF12 390999 genome.wustl.edu 37 1 12835246 12835246 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001080830.1 +1 provisional p.R79Q 0.000 146 0% 212 11.8% 0 - benign(0) tolerated(1) - superfamily_SSF52047 PRAMEF10 343071 genome.wustl.edu 37 1 12952872 12952872 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001039361.3 -1 validated p.R434W 0.000 63 0% 106 44.3% 0 - benign(0.004) deleterious(0.04) neutral(0.349) superfamily_SSF52047 PRAMEF7 441871 genome.wustl.edu 37 1 12978753 12978753 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001012277.1 +1 provisional p.L287F 0.175 108 0% 173 22% 2 50% probably_damaging(0.966) tolerated(0.25) neutral(0.445) superfamily_RNI-like FHAD1 114827 genome.wustl.edu 37 1 15687121 15687121 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_052929.1 +1 provisional p.E940K 0.322 147 0% 226 48.2% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL FHAD1 114827 genome.wustl.edu 37 1 15707241 15707241 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_052929.1 +1 provisional p.E1228D 0.838 79 0% 115 44.3% 2 50% possibly_damaging(0.664) tolerated(0.21) neutral(0.279) NULL CTRC 11330 genome.wustl.edu 37 1 15767060 15767060 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_007272.2 +1 reviewed p.F68 0.012 69 0% 110 40% 0 - - - - HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases CELA2B 51032 genome.wustl.edu 37 1 15813931 15813931 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015849.2 +1 reviewed p.S264L 0.001 89 0% 94 27.7% 0 - benign(0.025) tolerated(0.12) neutral(0.262) superfamily_Pept_Ser_Cys DNAJC16 23341 genome.wustl.edu 37 1 15873342 15873342 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015291.2 +1 provisional p.T280 0.989 257 0% 291 22% 2 0% - - - superfamily_Thioredoxin-like DDI2 84301 genome.wustl.edu 37 1 15976267 15976267 + Missense_Mutation SNP G G C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032341.3 +1 provisional p.E314D 0.998 282 0% 371 24.3% 3 33.3% possibly_damaging(0.663) tolerated(0.1) deleterious(0.521) superfamily_Acid proteases,HMMPfam_Asp_protease PLEKHM2 23207 genome.wustl.edu 37 1 16045109 16045109 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015164.2 +1 validated p.E152K 1.000 116 0% 117 46.2% 73 32.8% benign(0.046) tolerated(0.16) neutral(0.062) HMMPfam_RUN,HMMSmart_RUN PLEKHM2 23207 genome.wustl.edu 37 1 16056295 16056295 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015164.2 +1 validated p.F693L 1.000 54 0% 57 56.1% 60 43.3% benign(0.001) tolerated(0.75) neutral(0.002) NULL PLEKHM2 23207 genome.wustl.edu 37 1 16060385 16060385 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015164.2 +1 validated p.D1006N 1.000 19 0% 24 45.8% 106 30.1% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL TMEM82 388595 genome.wustl.edu 37 1 16074113 16074113 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001013641.1 +1 provisional p.S340A 0.000 73 0% 103 14.6% 0 - unknown(0) tolerated(0.39) - NULL SPEN 23013 genome.wustl.edu 37 1 16247460 16247460 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015001.2 +1 reviewed p.I577 0.707 263 0% 373 44.8% 0 - - - - HMMPfam_RRM_1,HMMSmart_RRM,superfamily_SSF54928 CLCNKA 1187 genome.wustl.edu 37 1 16349147 16349147 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004070.3 +1 reviewed p.F11L 0.921 111 0% 121 43% 0 - benign(0.002) tolerated(0.41) neutral(0.015) NULL RSG1 79363 genome.wustl.edu 37 1 16560198 16560198 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000434014 -1 known p.L31I 1.000 31 0% 52 42.3% 14 42.8% unknown(0) - - NULL SPATA21 374955 genome.wustl.edu 37 1 16727334 16727334 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_198546.1 -1 provisional p.A352V 0.000 106 0% 166 48.8% 0 - benign(0.073) deleterious(0.04) neutral(0.354) NULL NBPF1 55672 genome.wustl.edu 37 1 16913590 16913590 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017940.3 -1 predicted p.E245* 0.001 704 0.1% 927 36.8% 4 25% - - - NULL PADI3 51702 genome.wustl.edu 37 1 17599940 17599940 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016233.2 +1 reviewed p.L385M 1.000 55 0% 75 30.7% 0 - probably_damaging(1) tolerated(0.09) deleterious(0.796) HMMPfam_PAD,superfamily_SSF55909 ARHGEF10L 55160 genome.wustl.edu 37 1 17934453 17934453 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018125.3 +1 validated p.R197Q 1.000 26 0% 38 44.7% 22 59% possibly_damaging(0.886) deleterious(0.03) deleterious(0.711) NULL ARHGEF10L 55160 genome.wustl.edu 37 1 18014076 18014076 + Silent SNP C C T rs61749347 TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018125.3 +1 validated p.F1006 0.982 34 0% 49 49% 38 47.3% - - - superfamily_WD40 repeat-like ACTL8 81569 genome.wustl.edu 37 1 18149830 18149830 + Splice_Site SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000325482 +1 known e2-2 0.000 20 0% 27 51.9% 0 - - - - - PAX7 5081 genome.wustl.edu 37 1 18960970 18960970 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002584.2 +1 reviewed p.L87I 1.000 45 0% 59 35.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PAX,HMMSmart_SM00351,superfamily_Homeodomain-like IFFO2 126917 genome.wustl.edu 37 1 19244924 19244924 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001136265.1 -1 validated p.D299N 1.000 132 0% 229 27.9% 7 42.8% probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_Filament UBR4 23352 genome.wustl.edu 37 1 19439188 19439188 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020765.2 -1 validated p.S3877 0.110 110 0% 160 17.5% 55 21.8% - - - superfamily_ARM repeat PLA2G2F 64600 genome.wustl.edu 37 1 20465983 20465983 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_022819.3 +1 validated p.F21L 0.755 104 0% 117 43.6% 0 - benign(0) tolerated(0.17) neutral(0.059) NULL PINK1 65018 genome.wustl.edu 37 1 20975577 20975577 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032409.2 +1 reviewed p.F447 0.895 61 0% 75 49.3% 131 36.6% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase KIF17 57576 genome.wustl.edu 37 1 20998548 20998548 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020816.2 -1 validated p.R869C 1.000 82 0% 113 47.8% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) NULL HP1BP3 50809 genome.wustl.edu 37 1 21103120 21103120 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016287.3 -1 validated p.E107G 1.000 564 0.2% 718 41.4% 20 60% unknown(0) deleterious(0) - NULL EIF4G3 8672 genome.wustl.edu 37 1 21296085 21296085 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003760.3 -1 validated p.R143I 1.000 283 0% 368 46.5% 1 100% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL NBPF3 84224 genome.wustl.edu 37 1 21807442 21807442 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032264.2 +1 validated p.E467D 0.006 85 0% 116 18.1% 8 0% probably_damaging(0.979) deleterious(0.01) deleterious(0.828) NULL RAP1GAP 5909 genome.wustl.edu 37 1 21939690 21939690 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001145658.1 -1 validated p.F233L 1.000 129 0% 170 22.9% 221 20.3% probably_damaging(0.995) tolerated(0.24) deleterious(0.495) superfamily_Rap/Ran-GAP (Pfam 02145) USP48 84196 genome.wustl.edu 37 1 22084256 22084256 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032236.5 -1 reviewed p.P52L 0.997 320 0% 328 28% 32 28.1% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL HSPG2 3339 genome.wustl.edu 37 1 22207011 22207011 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005529.5 -1 reviewed p.G660R 0.000 20 0% 29 20.7% 97 17.5% - - - NULL ZBTB40 9923 genome.wustl.edu 37 1 22838267 22838267 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001083621.1 +1 validated p.E701* 0.001 43 0% 87 44.8% 1 0% - - - NULL ZBTB40 9923 genome.wustl.edu 37 1 22839610 22839610 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001083621.1 +1 validated p.K885N 1.000 77 0% 81 39.5% 13 23% probably_damaging(0.998) deleterious(0.02) deleterious(0.857) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers EPHB2 2048 genome.wustl.edu 37 1 23239042 23239042 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004442.6 +1 reviewed p.F935 0.909 82 0% 119 49.6% 13 15.3% - - - HMMPfam_SAM_1,HMMSmart_SAM,superfamily_SAM_homology KDM1A 23028 genome.wustl.edu 37 1 23381623 23381623 + Silent SNP C C T rs189014649 by1000genomes TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015013.3 +1 reviewed p.F264 0.981 276 0% 420 42.1% 24 45.8% - - - HMMPfam_SWIRM LUZP1 7798 genome.wustl.edu 37 1 23419075 23419075 + Silent SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001142546.1 -1 reviewed p.C560 0.845 67 1.5% 82 35.4% 2 50% - - - NULL LUZP1 7798 genome.wustl.edu 37 1 23419870 23419870 + Silent SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001142546.1 -1 reviewed p.I295 0.681 615 0.3% 812 42.9% 2 100% - - - NULL CNR2 1269 genome.wustl.edu 37 1 24201832 24201832 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001841.2 -1 reviewed p.V92 0.881 76 0% 101 41.6% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 IL28RA 163702 genome.wustl.edu 37 1 24488088 24488088 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_170743.2 -1 reviewed p.P152S 0.000 58 0% 82 13.4% 5 60% benign(0.001) deleterious(0.03) neutral(0.364) superfamily_Fibronectin type III SRRM1 10250 genome.wustl.edu 37 1 24977932 24977932 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005839.3 +1 validated p.R185Q 1.000 164 0.6% 184 30.4% 8 37.5% unknown(0) deleterious(0.04) - NULL SRRM1 10250 genome.wustl.edu 37 1 24995940 24995940 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005839.3 +1 validated p.R689Q 1.000 142 0% 175 12.6% 71 7% unknown(0) deleterious(0.03) - NULL TMEM57 55219 genome.wustl.edu 37 1 25785272 25785272 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018202.4 +1 validated p.S348I 0.991 144 0% 160 50% 5 60% benign(0.429) tolerated(0.35) neutral(0.160) HMMPfam_Macoilin PDIK1L 149420 genome.wustl.edu 37 1 26448602 26448602 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152835.3 +1 validated p.K187R 1.000 132 0% 156 43.6% 6 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase LIN28A 79727 genome.wustl.edu 37 1 26752893 26752893 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024674.4 +1 validated p.R192* 1.000 88 0% 190 44.7% 0 - - - - NULL ARID1A 8289 genome.wustl.edu 37 1 27106354 27106354 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006015.4 +1 reviewed p.R1989* 1.000 142 0% 161 38.5% 110 48.1% - - - NULL C1orf172 126695 genome.wustl.edu 37 1 27277948 27277948 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152365.2 -1 validated p.K308N 1.000 32 0% 41 51.2% 107 59.8% probably_damaging(0.998) deleterious(0.02) deleterious(0.857) NULL MAP3K6 9064 genome.wustl.edu 37 1 27685262 27685262 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004672.3 -1 reviewed p.E841* 1.000 67 0% 56 37.5% 16 25% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase FCN3 8547 genome.wustl.edu 37 1 27697428 27697428 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003665.2 -1 reviewed p.F143L 0.989 88 0% 89 40.4% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Fibrinogen_C,HMMSmart_SM00186,superfamily_Fibrinogen C-terminal domain-like STX12 23673 genome.wustl.edu 37 1 28120102 28120102 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_177424.2 +1 validated p.E83* 1.000 411 0% 564 43.1% 3 0% - - - HMMPfam_Syntaxin,HMMSmart_SM00503,superfamily_t-snare proteins MED18 54797 genome.wustl.edu 37 1 28661297 28661297 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001127350.1 +1 validated p.I148S 1.000 177 0% 266 19.5% 53 30.1% benign(0.041) deleterious(0) neutral(0.447) HMMPfam_Med18 EPB41 2035 genome.wustl.edu 37 1 29391630 29391630 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_203343.2 +1 reviewed p.R626Q 1.000 107 0% 173 14.5% 14 7.1% probably_damaging(0.997) tolerated(0.22) deleterious(0.508) HMMPfam_SAB SRSF4 6429 genome.wustl.edu 37 1 29475058 29475058 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005626.4 -1 reviewed p.S450L 0.994 310 0% 398 45% 142 37.3% unknown(0) deleterious(0.01) - NULL PUM1 9698 genome.wustl.edu 37 1 31447604 31447604 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001020658.1 -1 reviewed p.G467V 1.000 164 0% 249 38.2% 43 48.8% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SPOCD1 90853 genome.wustl.edu 37 1 32280738 32280738 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_144569.4 -1 provisional p.R66Q 0.000 22 0% 32 50% 0 - possibly_damaging(0.666) - - NULL LCK 3932 genome.wustl.edu 37 1 32751188 32751188 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001042771.1 +1 reviewed p.E467D 0.659 59 0% 84 38.1% 6 0% benign(0) tolerated(0.61) neutral(0.004) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) HDAC1 3065 genome.wustl.edu 37 1 32768273 32768273 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004964.2 +1 reviewed p.R34Q 1.000 126 0% 186 23.7% 269 20.8% probably_damaging(0.988) deleterious(0) deleterious(0.882) HMMPfam_Hist_deacetyl,superfamily_Arginase/deacetylase MARCKSL1 65108 genome.wustl.edu 37 1 32800510 32800510 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_023009.5 -1 validated p.F92L 1.000 32 0% 45 11.1% 215 13.4% possibly_damaging(0.792) deleterious(0) deleterious(0.742) PatternScan_MARCKS_2 ZNF362 149076 genome.wustl.edu 37 1 33760551 33760551 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152493.2 +1 validated p.D308N 1.000 96 0% 140 45% 107 46.7% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) superfamily_SSF57667 ZSCAN20 7579 genome.wustl.edu 37 1 33960529 33960529 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_145238.3 +1 validated p.S862Y 0.000 46 0% 68 29.4% 0 - benign(0.04) tolerated(0.88) neutral(0.003) NULL CSMD2 114784 genome.wustl.edu 37 1 34011654 34011654 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_052896.3 -1 validated p.S2884L 0.000 23 0% 29 17.2% 1 0% benign(0) tolerated(0.4) neutral(0.016) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain CSMD2 114784 genome.wustl.edu 37 1 34083115 34083115 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_052896.3 -1 validated p.P1937L 1.000 120 0% 151 14.6% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain CSMD2 114784 genome.wustl.edu 37 1 34204790 34204790 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_052896.3 -1 validated p.V733 1.000 55 0% 68 52.9% 0 - - - - HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain HMGB4 127540 genome.wustl.edu 37 1 34329934 34329934 + Nonsense_Mutation SNP A A T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_145205.4 +1 validated p.K48* 1.000 154 0% 186 43% 0 - - - - HMMPfam_HMG_box,HMMSmart_HMG,superfamily_HMG-box GJB5 2709 genome.wustl.edu 37 1 35223351 35223351 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005268.2 +1 provisional p.S140 0.000 61 1.6% 74 27% 13 30.7% - - - NULL DLGAP3 58512 genome.wustl.edu 37 1 35334261 35334261 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001080418.1 -1 provisional p.E810D 1.000 21 0% 40 20% 0 - possibly_damaging(0.791) deleterious(0) deleterious(0.741) HMMPfam_GKAP ZMYM6 9204 genome.wustl.edu 37 1 35454473 35454473 + Missense_Mutation SNP C C A rs61741445 by1000genomes TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_007167.3 -1 validated p.R737I 0.969 97 0% 99 48.5% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL ZMYM6 9204 genome.wustl.edu 37 1 35457963 35457963 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_007167.3 -1 validated p.K673R 0.997 294 0% 375 29.1% 5 20% benign(0.035) tolerated(0.54) neutral(0.009) NULL ZMYM6 9204 genome.wustl.edu 37 1 35484956 35484956 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_007167.3 -1 validated p.S142 0.001 319 0.3% 473 43.8% 7 14.2% - - - HMMPfam_zf-FCS,HMMSmart_SM00746 SFPQ 6421 genome.wustl.edu 37 1 35658441 35658441 + Silent SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005066.2 -1 validated p.Q70 0.997 13 7.7% 27 40.7% 64 39% - - - NULL TFAP2E 339488 genome.wustl.edu 37 1 36060127 36060127 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_178548.3 +1 validated p.F393 0.997 92 0% 121 39.7% 5 100% - - - HMMPfam_TF_AP-2 CLSPN 63967 genome.wustl.edu 37 1 36208784 36208784 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_022111.2 -1 reviewed p.E1034A 0.984 164 0% 224 11.2% 6 16.6% probably_damaging(0.998) tolerated(0.13) deleterious(0.727) NULL CLSPN 63967 genome.wustl.edu 37 1 36226464 36226464 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_022111.2 -1 reviewed p.T353N 0.001 139 0% 166 40.4% 3 33.3% possibly_damaging(0.605) deleterious(0.02) deleterious(0.593) NULL EIF2C3 192669 genome.wustl.edu 37 1 36437668 36437668 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024852.2 +1 reviewed p.R119Q 1.000 210 0% 289 15.9% 10 30% possibly_damaging(0.812) tolerated(0.08) deleterious(0.605) NULL THRAP3 9967 genome.wustl.edu 37 1 36754830 36754830 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005119.3 +1 validated p.R404W 0.997 121 0% 147 45.6% 6 50% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL SH3D21 79729 genome.wustl.edu 37 1 36785685 36785685 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024676.4 +1 validated p.P120H 0.003 44 0% 44 56.8% 1 100% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL STK40 83931 genome.wustl.edu 37 1 36821017 36821017 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032017.1 -1 provisional p.I120 0.142 115 0% 161 20.5% 69 11.5% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) CSF3R 1441 genome.wustl.edu 37 1 36939086 36939086 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_156039.2 -1 reviewed p.A208V 0.003 52 1.9% 85 51.8% 1 0% benign(0.028) tolerated(1) neutral(0.002) HMMSmart_FN3,superfamily_FN_III-like ZC3H12A 80149 genome.wustl.edu 37 1 37948725 37948725 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_025079.2 +1 validated p.S438L 0.982 25 0% 28 46.4% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL EPHA10 284656 genome.wustl.edu 37 1 38228464 38228464 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001099439.1 -1 validated p.S55I 0.998 190 0% 256 48.4% 0 - probably_damaging(0.962) tolerated(0.13) deleterious(0.657) HMMPfam_Ephrin_lbd,HMMSmart_SM00615,superfamily_Galactose-binding domain-like YRDC 79693 genome.wustl.edu 37 1 38272786 38272786 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024640.3 -1 validated p.N164S 1.000 146 0% 126 42.1% 19 47.3% probably_damaging(0.983) tolerated(0.22) deleterious(0.471) HMMPfam_Sua5_yciO_yrdC,superfamily_DHBP_synth_RibB-like_a/b_dom MTF1 4520 genome.wustl.edu 37 1 38288158 38288158 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005955.2 -1 reviewed p.P468S 1.000 138 0% 176 44.3% 10 40% probably_damaging(0.954) deleterious(0.01) deleterious(0.803) NULL MTF1 4520 genome.wustl.edu 37 1 38323069 38323069 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005955.2 -1 reviewed p.A88T 1.000 252 0% 348 39.9% 9 66.6% possibly_damaging(0.708) deleterious(0) deleterious(0.700) NULL POU3F1 5453 genome.wustl.edu 37 1 38511642 38511642 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002699.3 -1 validated p.F258 1.000 13 0% 15 40% 1 0% - - - HMMPfam_Pou,HMMSmart_POU,superfamily_Lambda_like_DNA GJA9 81025 genome.wustl.edu 37 1 39340268 39340268 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_030772.3 -1 provisional p.T501 0.936 98 0% 124 50% 0 - - - - NULL RHBDL2 54933 genome.wustl.edu 37 1 39353658 39353658 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017821.3 -1 reviewed p.F237V 1.000 182 0% 194 48.5% 1 0% benign(0.004) tolerated(0.27) neutral(0.034) HMMPfam_Rhomboid MACF1 23499 genome.wustl.edu 37 1 39790370 39790370 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_012090.3 +1 reviewed p.K1486T 1.000 175 0% 195 35.9% 0 - benign(0.087) tolerated(0.09) neutral(0.303) HMMSmart_SM00150,superfamily_Spectrin repeat MACF1 23499 genome.wustl.edu 37 1 39802942 39802942 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_033044.2 +1 reviewed p.K1825R 0.991 172 0% 208 19.7% 1 0% benign(0) - - NULL MACF1 23499 genome.wustl.edu 37 1 39823443 39823443 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_033044.2 +1 reviewed p.G2381R 1.000 254 0% 310 16.8% 8 0% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_Spectrin MACF1 23499 genome.wustl.edu 37 1 39847759 39847759 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_033044.2 +1 reviewed p.M3035V 1.000 98 0% 131 46.6% 6 0% benign(0.003) tolerated(0.53) neutral(0.007) HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_Spectrin KIAA0754 643314 genome.wustl.edu 37 1 39877972 39877972 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015038.1 +1 predicted p.T679A 1.000 204 0% 318 48.4% 2 100% unknown(0) deleterious(0) - NULL RLF 6018 genome.wustl.edu 37 1 40697313 40697313 + Silent SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_012421.3 +1 validated p.R358 1.000 457 0% 582 40.5% 3 66.6% - - - NULL ZNF684 127396 genome.wustl.edu 37 1 41012685 41012685 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152373.3 +1 validated p.L230 0.000 115 0% 157 54.1% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF684 127396 genome.wustl.edu 37 1 41012977 41012977 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152373.3 +1 validated p.S328R 0.000 133 0% 196 42.9% 2 50% benign(0.001) tolerated(0.49) neutral(0.011) HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,superfamily_SSF57667 CTPS 1503 genome.wustl.edu 37 1 41454292 41454292 + Silent SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001905.2 +1 validated p.E155 1.000 137 0% 200 48% 22 45.4% - - - HMMPfam_CTP_synth_N,superfamily_SSF52540 CTPS 1503 genome.wustl.edu 37 1 41463117 41463117 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001905.2 +1 validated p.T308 1.000 132 0% 203 47.8% 17 41.1% - - - superfamily_SSF52317 CTPS 1503 genome.wustl.edu 37 1 41471751 41471751 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001905.2 +1 validated p.T427 0.992 271 0% 353 40.8% 23 39.1% - - - HMMPfam_GATase,superfamily_SSF52317 SCMH1 22955 genome.wustl.edu 37 1 41494328 41494328 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001031694.2 -1 validated p.V595 0.006 41 0% 42 33.3% 82 37.8% - - - HMMPfam_SAM_1,HMMSmart_SM00454,superfamily_SAM/Pointed domain HIVEP3 59269 genome.wustl.edu 37 1 42046204 42046204 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024503.3 -1 validated p.S1422L 0.986 186 0% 182 45.1% 0 - possibly_damaging(0.837) tolerated(0.12) deleterious(0.580) NULL CCDC30 728621 genome.wustl.edu 37 1 43032078 43032078 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001080850.2 +1 validated p.R263* 0.978 228 0% 285 42.8% 1 100% - - - NULL CCDC30 728621 genome.wustl.edu 37 1 43055096 43055096 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001080850.2 +1 validated p.I442S 0.902 371 0% 356 44.9% 0 - probably_damaging(0.989) tolerated(0.16) deleterious(0.499) NULL CCDC30 728621 genome.wustl.edu 37 1 43108165 43108165 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001080850.2 +1 validated p.I554V 0.816 123 0% 154 14.3% 0 - benign(0) tolerated(0.81) neutral(0.001) NULL PPIH 10465 genome.wustl.edu 37 1 43124947 43124947 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000372549 +1 known p.F34L 0.000 381 0% 472 47.5% 2 50% unknown(0) deleterious(0.01) - NULL LEPRE1 64175 genome.wustl.edu 37 1 43212930 43212930 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000236040 -1 known p.R690* 0.004 33 0% 38 52.6% 12 41.6% - - - NULL SLC2A1 6513 genome.wustl.edu 37 1 43395161 43395161 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000415851 -1 known p.P128 0.000 11 0% 22 36.4% 3 33.3% - - - NULL SLC2A1 6513 genome.wustl.edu 37 1 43395282 43395282 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006516.2 -1 reviewed p.Q283 1.000 37 0% 54 37% 885 48.8% - - - HMMPfam_Sugar_tr,superfamily_MFS_gen_substrate_transporter WDR65 149465 genome.wustl.edu 37 1 43647376 43647376 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152498.3 +1 validated p.F110C 0.996 150 0.7% 196 40.8% 0 - probably_damaging(1) tolerated(0.12) deleterious(0.760) superfamily_WD40_like TMEM125 128218 genome.wustl.edu 37 1 43738869 43738869 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_144626.2 +1 validated p.S159L 0.001 19 0% 28 28.6% 43 58.1% benign(0.007) tolerated(0.09) neutral(0.296) NULL MPL 4352 genome.wustl.edu 37 1 43805025 43805025 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005373.2 +1 reviewed p.P159T 0.011 43 0% 58 22.4% 0 - benign(0.428) tolerated(0.38) neutral(0.157) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III SZT2 23334 genome.wustl.edu 37 1 43868958 43868958 + Silent SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001012961.1 +1 validated p.T46 0.037 121 0% 203 49.3% 11 27.2% - - - NULL PTPRF 5792 genome.wustl.edu 37 1 44044667 44044667 + Missense_Mutation SNP C C G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000413570 +1 known p.P258R 0.987 17 0% 25 32% 1 100% - - - NULL IPO13 9670 genome.wustl.edu 37 1 44429985 44429985 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014652.3 +1 reviewed p.L797M 1.000 718 0% 816 45.7% 29 34.4% benign(0.11) tolerated(0.31) neutral(0.036) superfamily_ARM-type_fold DMAP1 55929 genome.wustl.edu 37 1 44685812 44685812 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001034023.1 +1 reviewed p.R392Q 1.000 14 0% 18 22.2% 77 24.6% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_DMAP1 RNF220 55182 genome.wustl.edu 37 1 45110737 45110737 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018150.2 +1 validated p.R432W 1.000 135 0% 186 19.4% 92 13% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PLK3 1263 genome.wustl.edu 37 1 45266775 45266775 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004073.2 +1 validated p.F129S 1.000 70 0% 101 42.6% 12 16.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase PLK3 1263 genome.wustl.edu 37 1 45267602 45267602 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004073.2 +1 validated p.K217N 1.000 243 0% 305 37% 9 55.5% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase HPDL 84842 genome.wustl.edu 37 1 45793424 45793424 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032756.2 +1 validated p.E202K 0.983 22 0% 22 45.5% 0 - benign(0.001) tolerated(0.46) neutral(0.012) superfamily_Glyoxalase/Bleomycin resistance protein/Dihydroxybiphenyl dioxygenase TOE1 114034 genome.wustl.edu 37 1 45808860 45808860 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_025077.3 +1 validated p.R340Q 0.568 41 0% 74 50% 16 62.5% possibly_damaging(0.468) tolerated(0.52) neutral(0.162) HMMPfam_CAF1 TESK2 10420 genome.wustl.edu 37 1 45810730 45810730 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_007170.2 -1 reviewed p.R500W 1.000 130 0% 180 39.4% 0 - probably_damaging(0.979) deleterious(0) deleterious(0.867) NULL MAST2 23139 genome.wustl.edu 37 1 46496399 46496399 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015112.2 +1 validated p.R892* 1.000 20 0% 30 43.3% 7 28.5% - - - NULL MAST2 23139 genome.wustl.edu 37 1 46501556 46501556 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015112.2 +1 validated p.P1739S 0.013 39 0% 32 43.8% 31 54.8% probably_damaging(0.959) deleterious(0) deleterious(0.847) NULL LRRC41 10489 genome.wustl.edu 37 1 46751281 46751281 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006369.4 -1 validated p.F416 1.000 158 0% 228 49.1% 21 90.4% - - - NULL NSUN4 387338 genome.wustl.edu 37 1 46806569 46806569 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_199044.2 +1 validated p.R24I 0.929 48 0% 43 48.8% 6 83.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL FAAH 2166 genome.wustl.edu 37 1 46870819 46870819 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001441.2 +1 reviewed p.K148R 1.000 27 0% 36 52.8% 65 1.5% possibly_damaging(0.871) tolerated(0.09) deleterious(0.635) HMMPfam_Amidase,superfamily_Amidase_sig_enz MOB3C 148932 genome.wustl.edu 37 1 47075686 47075686 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_145279.4 -1 reviewed p.E255 1.000 49 0% 58 17.2% 7 14.2% - - - HMMPfam_Mob1_phocein,superfamily_Mob1/phocein KIAA0494 9813 genome.wustl.edu 37 1 47183691 47183691 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014774.2 -1 validated p.K23N 1.000 145 0% 194 41.2% 19 57.8% probably_damaging(0.962) tolerated(0.33) neutral(0.429) NULL STIL 6491 genome.wustl.edu 37 1 47716980 47716980 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001048166.1 -1 reviewed p.R1232Q 0.594 346 0% 403 47.4% 6 50% probably_damaging(0.987) tolerated(0.18) deleterious(0.492) NULL SPATA6 54558 genome.wustl.edu 37 1 48865185 48865185 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_019073.1 -1 provisional p.Y206 0.999 593 0% 668 44% 2 50% - - - NULL AGBL4 84871 genome.wustl.edu 37 1 49100154 49100154 + Nonstop_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000371838 -1 known p.*321L 0.008 174 0% 242 49.2% 0 - - - - NULL AGBL4 84871 genome.wustl.edu 37 1 49711461 49711461 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032785.3 -1 validated p.S120P 1.000 312 0% 343 47.8% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL FAF1 11124 genome.wustl.edu 37 1 51204597 51204597 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_007051.2 -1 reviewed p.K163N 1.000 523 0% 701 47.5% 51 50.9% benign(0.003) tolerated(0.3) neutral(0.029) superfamily_Ubiquitin-like FAF1 11124 genome.wustl.edu 37 1 51253790 51253790 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_007051.2 -1 reviewed p.A83 0.874 231 0% 257 38.9% 39 35.8% - - - NULL PRPF38A 84950 genome.wustl.edu 37 1 52876792 52876792 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032864.3 +1 validated p.E140K 1.000 483 0% 576 43.2% 39 43.5% benign(0.091) tolerated(0.24) neutral(0.044) HMMPfam_PRP38 ZCCHC11 23318 genome.wustl.edu 37 1 52975360 52975360 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001009881.1 -1 validated p.R303W 1.000 350 0% 395 39.7% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL ZCCHC11 23318 genome.wustl.edu 37 1 52981697 52981697 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001009881.1 -1 validated p.E250K 1.000 243 0% 273 41.4% 1 0% probably_damaging(0.953) deleterious(0) deleterious(0.841) NULL ZYG11B 79699 genome.wustl.edu 37 1 53237066 53237066 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024646.2 +1 validated p.L191V 1.000 131 0% 132 40.2% 4 50% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_ARM repeat,superfamily_RNI-like LRP8 7804 genome.wustl.edu 37 1 53729869 53729869 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004631.3 -1 reviewed p.R543W 0.997 97 0% 123 35.8% 3 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ldl_recept_b,HMMSmart_SM00135,superfamily_YWTD domain LRP8 7804 genome.wustl.edu 37 1 53729954 53729954 + Silent SNP A A G rs180896040 by1000genomes TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004631.3 -1 reviewed p.T514 0.123 77 0% 104 33.7% 9 55.5% - - - HMMPfam_Ldl_recept_b,HMMSmart_SM00135,superfamily_YWTD domain LRRC42 115353 genome.wustl.edu 37 1 54433420 54433420 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_052940.3 +1 provisional p.F365L 1.000 97 0% 156 53.2% 3 66.6% possibly_damaging(0.791) tolerated(0.7) neutral(0.298) NULL LDLRAD1 388633 genome.wustl.edu 37 1 54477836 54477836 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001010978.2 -1 provisional p.D107G 0.995 66 0% 98 36.7% 4 75% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMSmart_SM00192,PatternScan_LDLRA_1,superfamily_LDL receptor-like module TMEM59 9528 genome.wustl.edu 37 1 54506447 54506447 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004872.3 -1 provisional p.F230C 1.000 231 0% 245 48.6% 103 61.1% possibly_damaging(0.835) deleterious(0) deleterious(0.763) NULL TMEM59 9528 genome.wustl.edu 37 1 54509084 54509084 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004872.3 -1 provisional p.Y169D 1.000 116 0% 147 26.5% 73 41% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CYB5RL 606495 genome.wustl.edu 37 1 54645000 54645000 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001031672.2 -1 provisional p.A189V 0.956 73 0% 91 41.8% 2 50% possibly_damaging(0.947) deleterious(0) deleterious(0.835) HMMPfam_NAD_binding_1,superfamily_Ferredoxin reductase-like C-terminal NADP-linked domain CYB5RL 606495 genome.wustl.edu 37 1 54656537 54656537 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001031672.2 -1 provisional p.F77 0.681 99 0% 121 42.1% 1 0% - - - superfamily_Riboflavin synthase domain-like PCSK9 255738 genome.wustl.edu 37 1 55509575 55509575 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_174936.2 +1 reviewed p.S89 0.343 38 0% 59 54.2% 6 66.6% - - - superfamily_Protease propeptides/inhibitors,HMMPfam_Inhibitor_I9 USP24 23358 genome.wustl.edu 37 1 55589213 55589213 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015306.2 -1 validated p.R1235* 0.997 120 0% 136 39.7% 5 0% - - - NULL USP24 23358 genome.wustl.edu 37 1 55599756 55599756 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015306.2 -1 validated p.S963Y 1.000 144 0% 174 45.4% 1 100% benign(0.267) deleterious(0.02) neutral(0.411) PatternScan_SUGAR_TRANSPORT_1 USP24 23358 genome.wustl.edu 37 1 55608719 55608719 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015306.2 -1 validated p.I678S 1.000 228 0% 287 38.3% 4 0% probably_damaging(0.989) deleterious(0) deleterious(0.884) NULL PRKAA2 5563 genome.wustl.edu 37 1 57169847 57169847 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006252.3 +1 validated p.R331Q 1.000 116 0% 137 42.3% 7 42.8% probably_damaging(0.986) tolerated(0.09) deleterious(0.731) superfamily_Kinase_like C8A 731 genome.wustl.edu 37 1 57347158 57347158 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000562.2 +1 reviewed p.D169N 0.999 281 0% 378 44.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL MYSM1 114803 genome.wustl.edu 37 1 59133517 59133517 + Splice_Site SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001085487.1 -1 provisional e15+2 1.000 121 0% 184 38.6% 0 - - - - - MYSM1 114803 genome.wustl.edu 37 1 59147839 59147839 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001085487.1 -1 provisional p.E293* 0.426 281 0% 353 42.5% 0 - - - - NULL FGGY 55277 genome.wustl.edu 37 1 59922632 59922632 + Splice_Site SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001113411.1 +1 validated e5-1 1.000 401 0% 477 18.4% 0 - - - - - HOOK1 51361 genome.wustl.edu 37 1 60331642 60331642 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000371208 +1 known p.N615D 1.000 79 0% 115 27% 1 0% benign(0.001) tolerated(0.3) neutral(0.029) HMMPfam_HOOK,superfamily_Prefoldin L1TD1 54596 genome.wustl.edu 37 1 62672582 62672582 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_019079.4 +1 validated p.E94D 0.001 32 0% 65 47.7% 0 - unknown(0) tolerated(0.46) - NULL DOCK7 85440 genome.wustl.edu 37 1 62954683 62954683 + Silent SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000454575 -1 known p.*968R 0.970 342 0% 398 40.5% 5 40% - - - NULL DOCK7 85440 genome.wustl.edu 37 1 62971389 62971389 + Silent SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000454575 -1 known p.T688A 0.889 209 0% 273 39.6% 10 50% - - - NULL DOCK7 85440 genome.wustl.edu 37 1 63044559 63044559 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_033407.2 -1 validated p.F650L 1.000 214 0% 260 46.5% 4 75% benign(0.182) tolerated(0.2) neutral(0.066) NULL ANGPTL3 27329 genome.wustl.edu 37 1 63064460 63064460 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014495.2 +1 reviewed p.K197Q 1.000 329 0% 408 39.7% 0 - probably_damaging(0.998) tolerated(0.26) deleterious(0.508) NULL ATG4C 84938 genome.wustl.edu 37 1 63300492 63300492 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032852.2 +1 reviewed p.V353A 1.000 430 0% 597 46.2% 3 33.3% possibly_damaging(0.748) deleterious(0) deleterious(0.719) HMMPfam_Peptidase_C54 FOXD3 27022 genome.wustl.edu 37 1 63789125 63789125 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_012183.2 +1 reviewed p.P132 0.994 13 0% 21 47.6% 0 - - - - NULL ITGB3BP 23421 genome.wustl.edu 37 1 63944460 63944460 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014288.3 -1 provisional p.E77* 0.029 565 0% 713 41.4% 4 0% - - - HMMPfam_NRIF3 ROR1 4919 genome.wustl.edu 37 1 64605929 64605929 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005012.2 +1 validated p.D250N 1.000 134 0% 179 41.3% 2 50% probably_damaging(1) tolerated(0.07) deleterious(0.819) HMMPfam_Fz ROR1 4919 genome.wustl.edu 37 1 64643245 64643245 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005012.2 +1 validated p.T507 1.000 105 0% 142 50.7% 2 50% - - - HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) CACHD1 57685 genome.wustl.edu 37 1 65145301 65145301 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020925.2 +1 validated p.M1039V 1.000 128 0% 163 16% 21 28.5% benign(0.044) tolerated(0.29) neutral(0.032) NULL RAVER2 55225 genome.wustl.edu 37 1 65243383 65243383 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018211.3 +1 validated p.D132Y 1.000 245 0% 316 34.2% 6 0% possibly_damaging(0.893) deleterious(0) deleterious(0.796) HMMPfam_RRM_1,HMMSmart_RRM,superfamily_SSF54928 JAK1 3716 genome.wustl.edu 37 1 65303758 65303758 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002227.2 -1 reviewed p.Y999 0.903 128 0% 206 47.1% 68 42.6% - - - HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like DNAJC6 9829 genome.wustl.edu 37 1 65871742 65871742 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014787.2 +1 validated p.R749Q 1.000 239 0% 317 45.7% 0 - benign(0.299) deleterious(0.01) deleterious(0.498) NULL DNAJC6 9829 genome.wustl.edu 37 1 65877064 65877064 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014787.2 +1 validated p.V865 1.000 167 0% 241 44.4% 1 0% - - - HMMPfam_DnaJ,HMMSmart_SM00271,superfamily_Chaperone J-domain PDE4B 5142 genome.wustl.edu 37 1 66384403 66384403 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001037341.1 +1 reviewed p.S56P 0.999 87 0% 137 18.2% 0 - possibly_damaging(0.861) deleterious(0.02) deleterious(0.716) NULL PDE4B 5142 genome.wustl.edu 37 1 66723153 66723153 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000371048 +1 known p.F21V 0.014 48 0% 38 18.4% 0 - - - - NULL DEPDC1 55635 genome.wustl.edu 37 1 68943640 68943640 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001114120.1 -1 validated p.D710N 0.999 164 0% 194 43.8% 1 100% benign(0.167) tolerated(0.22) neutral(0.057) NULL DEPDC1 55635 genome.wustl.edu 37 1 68944985 68944985 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001114120.1 -1 validated p.R652* 0.998 134 0% 183 47% 7 0% - - - superfamily_Rho_GAP LRRC7 57554 genome.wustl.edu 37 1 70504011 70504011 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020794.2 +1 validated p.S797L 0.980 107 0% 131 39.7% 0 - possibly_damaging(0.614) deleterious(0) deleterious(0.657) NULL LRRC40 55631 genome.wustl.edu 37 1 70611496 70611496 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017768.4 -1 validated p.R599Q 1.000 234 0% 295 40.7% 2 100% probably_damaging(1) deleterious(0) deleterious(0.945) NULL LRRC40 55631 genome.wustl.edu 37 1 70639322 70639322 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017768.4 -1 validated p.R350* 1.000 116 0.9% 169 42% 1 0% - - - NULL HHLA3 11147 genome.wustl.edu 37 1 70820881 70820881 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001036645.1 +1 validated p.E83K 0.001 78 0% 101 12.9% 5 0% benign(0.352) - - NULL CTH 1491 genome.wustl.edu 37 1 70883708 70883708 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001902.4 +1 reviewed p.V113 0.991 375 0% 512 25.4% 2 100% - - - HMMPfam_Cys_Met_Meta_PP,superfamily_PLP-dependent transferases CTH 1491 genome.wustl.edu 37 1 70887295 70887295 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001902.4 +1 reviewed p.K131N 1.000 394 0% 479 41.5% 1 100% benign(0.022) tolerated(0.15) neutral(0.242) HMMPfam_Cys_Met_Meta_PP,superfamily_PLP-dependent transferases PTGER3 5733 genome.wustl.edu 37 1 71439993 71439993 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001126044.1 -1 reviewed p.D386N 0.985 224 0% 312 47.4% 1 0% benign(0.189) deleterious(0) neutral(0.462) NULL C1orf173 127254 genome.wustl.edu 37 1 75086555 75086555 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001002912.4 -1 validated p.A288V 0.017 279 0% 340 36.8% 0 - benign(0.003) tolerated(0.46) neutral(0.012) NULL C1orf173 127254 genome.wustl.edu 37 1 75102074 75102074 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001002912.4 -1 validated p.R165* 0.998 283 0% 344 41.9% 2 0% - - - NULL SLC44A5 204962 genome.wustl.edu 37 1 75684297 75684297 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152697.4 -1 validated p.N469 1.000 154 0% 204 44.1% 0 - - - - HMMPfam_DUF580 ACADM 34 genome.wustl.edu 37 1 76215151 76215151 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001127328.1 +1 reviewed p.F256 1.000 382 0.8% 457 42.5% 4 25% - - - superfamily_Acyl-CoA dehydrogenase NM domain-like MSH4 4438 genome.wustl.edu 37 1 76333219 76333219 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002440.2 +1 validated p.K417N 1.000 333 0% 387 49.6% 0 - benign(0.188) tolerated(0.2) neutral(0.067) HMMPfam_MutS_III,HMMSmart_MUTSd,superfamily_DNA_repair_MutS_domIII MSH4 4438 genome.wustl.edu 37 1 76363701 76363701 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002440.2 +1 validated p.R822I 0.988 204 0% 228 41.2% 0 - benign(0.089) tolerated(0.18) neutral(0.062) HMMPfam_MutS_V,HMMSmart_MUTSac,superfamily_SSF52540 AK5 26289 genome.wustl.edu 37 1 77987619 77987619 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_174858.1 +1 reviewed p.F473 0.970 93 0% 118 37.3% 0 - - - - HMMPfam_ADK,superfamily_P-loop containing nucleoside triphosphate hydrolases USP33 23032 genome.wustl.edu 37 1 78181526 78181526 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015017.3 -1 validated p.N680S 1.000 188 0% 286 45.1% 11 36.3% benign(0.333) deleterious(0.03) deleterious(0.469) HMMPfam_UCH,superfamily_Cysteine proteinases FAM73A 374986 genome.wustl.edu 37 1 78325057 78325057 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_198549.2 +1 predicted p.R392* 1.000 264 0% 315 45.7% 3 0% - - - HMMPfam_DUF2217 PTGFR 5737 genome.wustl.edu 37 1 79002354 79002354 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000959.3 +1 reviewed p.E354D 0.929 56 0% 52 48.1% 0 - benign(0) tolerated(0.1) neutral(0.286) NULL LPHN2 23266 genome.wustl.edu 37 1 82408765 82408765 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_012302.2 +1 reviewed p.I170M 1.000 182 0% 226 43.8% 1 100% possibly_damaging(0.791) deleterious(0) deleterious(0.741) HMMPfam_OLF,HMMSmart_SM00284 TTLL7 79739 genome.wustl.edu 37 1 84377031 84377031 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024686.4 -1 validated p.P535S 1.000 333 0% 416 45.9% 0 - probably_damaging(1) tolerated(0.2) deleterious(0.549) NULL PRKACB 5567 genome.wustl.edu 37 1 84668410 84668410 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_182948.2 +1 reviewed p.I276 1.000 252 0% 321 42.7% 2 0% - - - HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase SSX2IP 117178 genome.wustl.edu 37 1 85128057 85128057 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014021.3 -1 reviewed p.N251H 1.000 275 0% 362 44.5% 1 100% benign(0.021) tolerated(0.41) neutral(0.016) NULL MCOLN3 55283 genome.wustl.edu 37 1 85510837 85510837 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018298.9 -1 validated p.K69N 1.000 412 0% 505 43.4% 0 - probably_damaging(1) tolerated(0.06) deleterious(0.823) NULL SYDE2 84144 genome.wustl.edu 37 1 85648224 85648224 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032184.1 -1 validated p.D701Y 1.000 98 0% 124 45.2% 0 - probably_damaging(0.965) deleterious(0) deleterious(0.851) superfamily_C2 domain (Calcium/lipid-binding domain CaLB) SYDE2 84144 genome.wustl.edu 37 1 85666050 85666050 + Silent SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032184.1 -1 validated p.R210 0.004 45 0% 64 28.1% 0 - - - - NULL COL24A1 255631 genome.wustl.edu 37 1 86196369 86196369 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152890.5 -1 validated p.D1669Y 1.000 255 0% 391 41.2% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMSmart_SM00038 COL24A1 255631 genome.wustl.edu 37 1 86252114 86252114 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152890.5 -1 validated p.L1328I 0.986 135 0% 144 46.5% 0 - benign(0.214) tolerated(0.45) neutral(0.033) HMMPfam_Collagen COL24A1 255631 genome.wustl.edu 37 1 86435930 86435930 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152890.5 -1 validated p.F815V 0.999 179 0% 200 42% 0 - benign(0.001) tolerated(0.62) neutral(0.004) HMMPfam_Collagen ODF2L 57489 genome.wustl.edu 37 1 86826115 86826115 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020729.2 -1 validated p.K387N 1.000 372 0% 448 42.6% 6 66.6% possibly_damaging(0.753) deleterious(0) deleterious(0.721) superfamily_tRNA-binding arm CLCA2 9635 genome.wustl.edu 37 1 86904648 86904648 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006536.5 +1 reviewed p.F354 0.123 146 0% 188 42.6% 0 - - - - HMMPfam_VWA,HMMSmart_VWA,superfamily_SSF53300 CLCA2 9635 genome.wustl.edu 37 1 86909549 86909549 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006536.5 +1 reviewed p.D523G 0.906 164 0% 227 44.1% 0 - benign(0) tolerated(0.07) neutral(0.319) HMMPfam_DUF1973 CLCA4 22802 genome.wustl.edu 37 1 87031050 87031050 + Silent SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_012128.3 +1 reviewed p.K217 0.032 169 0% 213 43.2% 0 - - - - HMMPfam_CLCA_N CLCA4 22802 genome.wustl.edu 37 1 87031518 87031518 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_012128.3 +1 reviewed p.Q257K 0.000 147 0% 136 39% 0 - benign(0) tolerated(1) - HMMPfam_CLCA_N PKN2 5586 genome.wustl.edu 37 1 89236113 89236113 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006256.2 +1 validated p.L195I 1.000 199 0% 284 44.4% 6 33.3% benign(0.082) tolerated(0.51) neutral(0.015) HMMPfam_HR1,HMMSmart_Hr1,superfamily_PKN_effector PKN2 5586 genome.wustl.edu 37 1 89271605 89271605 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006256.2 +1 validated p.L570I 1.000 186 0% 220 46.4% 12 50% benign(0.083) tolerated(0.27) neutral(0.040) NULL PKN2 5586 genome.wustl.edu 37 1 89273107 89273107 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006256.2 +1 validated p.Q639K 0.001 212 0% 248 27% 2 50% benign(0.001) tolerated(0.93) - superfamily_Kinase_like GBP1 2633 genome.wustl.edu 37 1 89523853 89523853 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002053.2 -1 validated p.K232N 0.601 168 0% 171 34.5% 2 0% benign(0.024) tolerated(0.33) neutral(0.025) HMMPfam_GBP,superfamily_P-loop containing nucleoside triphosphate hydrolases GBP4 115361 genome.wustl.edu 37 1 89662986 89662986 + Silent SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_052941.4 -1 validated p.G14 0.008 151 0% 147 42.9% 3 0% - - - NULL GBP6 163351 genome.wustl.edu 37 1 89843995 89843995 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_198460.2 +1 validated p.E150* 0.990 166 0% 212 42% 0 - - - - HMMPfam_GBP,superfamily_P-loop containing nucleoside triphosphate hydrolases LRRC8C 84230 genome.wustl.edu 37 1 90178739 90178739 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032270.4 +1 validated p.E204* 1.000 86 0% 101 46.5% 1 100% - - - NULL LRRC8C 84230 genome.wustl.edu 37 1 90179077 90179077 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032270.4 +1 validated p.F316L 1.000 93 0% 121 23.1% 0 - benign(0.255) tolerated(0.4) neutral(0.042) NULL ZNF326 284695 genome.wustl.edu 37 1 90473240 90473240 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_182976.2 +1 validated p.E182D 1.000 136 0% 156 15.4% 15 6.6% benign(0.017) tolerated(0.12) neutral(0.261) NULL HFM1 164045 genome.wustl.edu 37 1 91844691 91844691 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001017975.3 -1 validated p.E363* 1.000 309 0% 339 40.4% 0 - - - - HMMPfam_DEAD,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases CDC7 8317 genome.wustl.edu 37 1 91985723 91985723 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001134419.1 +1 reviewed p.S406Y 1.000 480 0% 569 42.7% 1 0% probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase LOC646817 646817 genome.wustl.edu 37 1 92540513 92540513 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_929774.4 -1 model p.F162 1.000 68 0% 59 30.5% 0 - - - - HMMPfam_NAP KIAA1107 23285 genome.wustl.edu 37 1 92647704 92647704 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015237.2 +1 validated p.F1050L 0.017 107 0% 140 45% 0 - benign(0.232) tolerated(0.08) neutral(0.323) NULL RPL5 6125 genome.wustl.edu 37 1 93300390 93300390 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000969.3 +1 reviewed p.E82K 1.000 110 0% 168 48.2% 2222 40.8% benign(0.001) deleterious(0) neutral(0.445) HMMPfam_Ribosomal_L18p,superfamily_Translational machinery components RPL5 6125 genome.wustl.edu 37 1 93303151 93303151 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000969.3 +1 reviewed p.Q222 1.000 31 0% 38 36.8% 555 39.8% - - - superfamily_Translational machinery components FAM69A 388650 genome.wustl.edu 37 1 93309242 93309242 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001006605.3 -1 reviewed p.R329C 1.000 134 0% 151 50.3% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL MTF2 22823 genome.wustl.edu 37 1 93594884 93594884 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_007358.3 +1 validated p.R347* 1.000 262 0% 304 42.4% 4 0% - - - NULL TMED5 50999 genome.wustl.edu 37 1 93621917 93621917 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016040.4 -1 validated p.E137D 0.993 562 0.2% 737 44.6% 11 36.3% benign(0.002) tolerated(0.59) neutral(0.004) HMMPfam_EMP24_GP25L,superfamily_SSF101576 CCDC18 343099 genome.wustl.edu 37 1 93652026 93652026 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_206886.2 +1 validated p.S261Y 0.973 154 0% 185 48.1% 0 - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL FNBP1L 54874 genome.wustl.edu 37 1 93965072 93965072 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000271234 +1 known p.F24L 1.000 203 0% 266 45.9% 20 40% benign(0.384) tolerated(0.53) neutral(0.130) HMMPfam_FCH,HMMSmart_SM00055 FNBP1L 54874 genome.wustl.edu 37 1 94012494 94012494 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000271234 +1 known p.N458S 1.000 177 0% 209 45% 37 59.4% benign(0) tolerated(0.1) neutral(0.286) NULL DNTTIP2 30836 genome.wustl.edu 37 1 94335364 94335364 + Silent SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000436063 -1 known p.I778 0.237 208 0% 271 51.7% 3 33.3% - - - NULL DNTTIP2 30836 genome.wustl.edu 37 1 94335482 94335482 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000436063 -1 known p.T739I 0.367 371 0% 507 43.2% 10 50% - - - NULL DNTTIP2 30836 genome.wustl.edu 37 1 94342675 94342675 + Silent SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014597.3 -1 provisional p.R272 0.003 171 0% 187 15% 1 0% - - - NULL ABCA4 24 genome.wustl.edu 37 1 94466624 94466624 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000350.2 -1 reviewed p.R2107H 1.000 90 0% 117 39.3% 7 14.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ABC_tran,HMMSmart_AAA,superfamily_SSF52540 ABCA4 24 genome.wustl.edu 37 1 94526127 94526127 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000350.2 -1 reviewed p.S709L 0.490 92 0% 124 38.7% 1 0% benign(0) tolerated(1) - NULL ARHGAP29 9411 genome.wustl.edu 37 1 94650597 94650597 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004815.3 -1 validated p.R647Q 1.000 107 0% 137 49.6% 5 20% possibly_damaging(0.91) deleterious(0.01) deleterious(0.768) HMMPfam_C1_1,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,superfamily_Cysteine-rich domain ABCD3 5825 genome.wustl.edu 37 1 94964360 94964360 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002858.3 +1 reviewed p.R496C 0.922 471 0% 575 29.4% 12 33.3% benign(0.003) deleterious(0.02) neutral(0.383) HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases F3 2152 genome.wustl.edu 37 1 94998694 94998694 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001993.4 -1 reviewed p.K181N 0.777 241 0% 257 10.9% 15 6.6% benign(0.425) tolerated(0.56) neutral(0.145) superfamily_FN_III-like F3 2152 genome.wustl.edu 37 1 95001552 95001552 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001993.4 -1 reviewed p.E127D 0.000 75 0% 103 45.6% 35 51.4% benign(0.001) tolerated(0.13) neutral(0.253) HMMPfam_Tissue_fac,superfamily_FN_III-like PTBP2 58155 genome.wustl.edu 37 1 97216993 97216993 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_021190.2 +1 reviewed p.E18K 1.000 161 0% 187 42.8% 6 16.6% benign(0.077) deleterious(0) neutral(0.450) NULL DPYD 1806 genome.wustl.edu 37 1 97547935 97547935 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000110.3 -1 reviewed p.C953Y 1.000 281 0% 386 47.2% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Fer4,superfamily_SSF54862 DPYD 1806 genome.wustl.edu 37 1 98186463 98186463 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000306031 -1 known p.S168F 0.187 211 0% 261 44.8% 0 - benign(0.004) deleterious(0.02) neutral(0.383) NULL DPYD 1806 genome.wustl.edu 37 1 98205986 98205986 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000110.3 -1 reviewed p.L95I 1.000 419 0% 550 14.9% 0 - benign(0.056) tolerated(1) neutral(0.004) superfamily_Helical_ferredxn AGL 178 genome.wustl.edu 37 1 100350259 100350259 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000028.2 +1 reviewed p.S894F 1.000 117 0% 144 41.7% 2 0% benign(0) tolerated(0.22) neutral(0.042) NULL SLC35A3 23443 genome.wustl.edu 37 1 100477037 100477037 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_012243.1 +1 provisional p.E194D 1.000 204 0% 225 44% 1 0% probably_damaging(0.992) deleterious(0) deleterious(0.892) HMMPfam_Nuc_sug_transp HIAT1 64645 genome.wustl.edu 37 1 100546117 100546117 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_033055.2 +1 validated p.G390* 1.000 231 0% 258 39.9% 22 27.2% - - - superfamily_MFS_gen_substrate_transporter DBT 1629 genome.wustl.edu 37 1 100681611 100681611 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001918.2 -1 reviewed p.D234Y 0.982 767 0% 878 41.7% 4 25% benign(0.108) deleterious(0.02) neutral(0.392) NULL CDC14A 8556 genome.wustl.edu 37 1 100963727 100963727 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_033312.2 +1 reviewed p.N462S 0.990 153 0% 174 38.5% 7 42.8% benign(0) tolerated(0.81) neutral(0.001) NULL SLC30A7 148867 genome.wustl.edu 37 1 101427403 101427403 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001144884.1 +1 validated p.E288* 1.000 410 0% 455 45.3% 3 0% - - - HMMPfam_Cation_efflux COL11A1 1301 genome.wustl.edu 37 1 103405888 103405888 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_080629.2 -1 reviewed p.D1139Y 1.000 74 0% 84 36.9% 1 0% unknown(0) deleterious(0) - HMMPfam_Collagen AMY2A 279 genome.wustl.edu 37 1 104161613 104161613 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000699.2 +1 reviewed p.S132R 1.000 940 0.2% 1377 7.8% 0 - probably_damaging(0.984) deleterious(0) deleterious(0.875) HMMPfam_Alpha-amylase,HMMSmart_Aamy,superfamily_Glyco_hydro_cat VAV3 10451 genome.wustl.edu 37 1 108315437 108315437 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006113.4 -1 reviewed p.L159F 0.993 515 0% 650 36.9% 0 - probably_damaging(0.989) deleterious(0.05) deleterious(0.785) superfamily_Calponin-homology domain CH-domain PRPF38B 55119 genome.wustl.edu 37 1 109238367 109238367 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018061.2 +1 validated p.A107V 1.000 314 0% 442 43.9% 39 64.1% possibly_damaging(0.853) deleterious(0.03) deleterious(0.693) HMMPfam_PRP38 PRPF38B 55119 genome.wustl.edu 37 1 109238743 109238743 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018061.2 +1 validated p.R142* 1.000 323 0.3% 445 45.2% 15 13.3% - - - HMMPfam_PRP38 PRPF38B 55119 genome.wustl.edu 37 1 109242028 109242028 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018061.2 +1 validated p.R343C 1.000 60 0% 94 48.9% 33 39.3% unknown(0) deleterious(0.01) - NULL PRPF38B 55119 genome.wustl.edu 37 1 109242415 109242415 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018061.2 +1 validated p.R472* 1.000 139 0% 165 47.9% 23 21.7% - - - NULL FNDC7 163479 genome.wustl.edu 37 1 109260543 109260543 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001144937.1 +1 provisional p.S76F 1.000 95 0% 124 49.2% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III FNDC7 163479 genome.wustl.edu 37 1 109280126 109280126 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001144937.1 +1 provisional p.S717Y 1.000 440 0% 534 46.1% 0 - probably_damaging(0.999) deleterious(0.05) deleterious(0.836) NULL CELSR2 1952 genome.wustl.edu 37 1 109795639 109795639 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001408.2 +1 reviewed p.A980T 0.998 49 0% 54 44.4% 31 45.1% benign(0.299) tolerated(1) neutral(0.092) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin ATXN7L2 127002 genome.wustl.edu 37 1 110030321 110030321 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_153340.4 +1 validated p.E199K 0.025 88 0% 106 12.3% 1 0% possibly_damaging(0.643) tolerated(0.75) neutral(0.227) NULL GNAI3 2773 genome.wustl.edu 37 1 110125088 110125088 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006496.2 +1 validated p.Q164P 1.000 173 0% 218 39.9% 112 53.5% benign(0.002) tolerated(0.1) neutral(0.286) HMMPfam_G-alpha,superfamily_Transducin (alpha subunit) insertion domain,HMMSmart_SM00275,superfamily_P-loop containing nucleoside triphosphate hydrolases GNAT2 2780 genome.wustl.edu 37 1 110155462 110155462 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005272.3 -1 reviewed p.E11* 1.000 444 0% 604 41.7% 0 - - - - HMMPfam_G-alpha,superfamily_P-loop containing nucleoside triphosphate hydrolases GSTM3 2947 genome.wustl.edu 37 1 110280787 110280787 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000849.4 -1 reviewed p.R100* 0.982 365 0.3% 508 44.5% 44 6.8% - - - superfamily_Glutathione S-transferase (GST) C-terminal domain AHCYL1 10768 genome.wustl.edu 37 1 110559064 110559064 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006621.4 +1 validated p.R294Q 1.000 222 0% 263 41.4% 170 44.7% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_AdoHcyase,HMMPfam_AdoHcyase_NAD,superfamily_NAD(P)-binding Rossmann-fold domains,superfamily_Formate/glycerate dehydrogenase catalytic domain-like AHCYL1 10768 genome.wustl.edu 37 1 110561689 110561689 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006621.4 +1 validated p.L445W 1.000 125 0% 187 46% 383 46.7% probably_damaging(0.975) deleterious(0) deleterious(0.861) HMMPfam_AdoHcyase,HMMPfam_AdoHcyase_NAD,superfamily_NAD(P)-binding Rossmann-fold domains,superfamily_Formate/glycerate dehydrogenase catalytic domain-like FAM40A 85369 genome.wustl.edu 37 1 110592136 110592136 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_033088.2 +1 validated p.K615E 1.000 156 0% 189 43.4% 35 62.8% possibly_damaging(0.892) deleterious(0) deleterious(0.796) NULL KCNC4 3749 genome.wustl.edu 37 1 110766332 110766332 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004978.3 +1 reviewed p.F475 0.995 36 0% 70 47.1% 16 62.5% - - - superfamily_Voltage-gated potassium channels RBM15 64783 genome.wustl.edu 37 1 110883852 110883852 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_022768.4 +1 validated p.E609K 1.000 43 0% 53 50.9% 13 38.4% possibly_damaging(0.786) deleterious(0.01) deleterious(0.700) NULL KCNA3 3738 genome.wustl.edu 37 1 111216461 111216461 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002232.3 -1 reviewed p.S324L 1.000 32 0% 39 23.1% 1 0% benign(0.001) tolerated(0.21) neutral(0.044) HMMPfam_Ion_trans,superfamily_SSF81324 KCNA3 3738 genome.wustl.edu 37 1 111217087 111217087 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002232.3 -1 reviewed p.F115 1.000 22 0% 16 62.5% 0 - - - - HMMSmart_BTB,HMMPfam_K_tetra,superfamily_BTB/POZ_fold CD53 963 genome.wustl.edu 37 1 111437623 111437623 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000560.3 +1 reviewed p.H123 0.004 175 0% 230 43.5% 27 3.7% - - - superfamily_Tetraspanin,HMMPfam_Tetraspannin WDR77 79084 genome.wustl.edu 37 1 111986535 111986535 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024102.2 -1 provisional p.R191S 0.892 109 0% 125 19.2% 143 41.2% possibly_damaging(0.886) tolerated(0.25) neutral(0.383) HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40 DDX20 11218 genome.wustl.edu 37 1 112308660 112308660 + Silent SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_007204.4 +1 reviewed p.C538 0.004 81 0% 115 40% 3 0% - - - NULL KCND3 3752 genome.wustl.edu 37 1 112318865 112318865 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004980.3 -1 reviewed p.L601P 1.000 227 0% 360 43.1% 1 0% benign(0.171) deleterious(0.04) neutral(0.364) NULL MOV10 4343 genome.wustl.edu 37 1 113231749 113231749 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001130079.1 +1 validated p.I110 0.998 235 0% 262 41.2% 24 50% - - - NULL MOV10 4343 genome.wustl.edu 37 1 113243250 113243250 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000285733 +1 known p.P547S 0.189 30 0% 27 33.3% 93 43% unknown(0) - - NULL LOC128322 128322 genome.wustl.edu 37 1 113290788 113290788 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_060943.1 +1 model p.N24 0.997 50 0% 74 50% 0 - - - - HMMPfam_NTF2,superfamily_NTF2-like PHTF1 10745 genome.wustl.edu 37 1 114254385 114254385 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006608.2 -1 validated p.S344A 0.993 84 0% 105 50.5% 14 28.5% possibly_damaging(0.882) tolerated(0.4) neutral(0.360) NULL RSBN1 54665 genome.wustl.edu 37 1 114308967 114308967 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018364.3 -1 validated p.V682F 1.000 109 0% 123 17.9% 16 0% probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL RSBN1 54665 genome.wustl.edu 37 1 114319975 114319975 + Splice_Site SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018364.3 -1 validated e4-1 1.000 182 0% 208 46.2% 0 - - - - - AP4B1 10717 genome.wustl.edu 37 1 114437811 114437811 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006594.2 -1 validated p.L699S 0.444 132 0% 149 41.6% 8 37.5% benign(0.41) deleterious(0.01) deleterious(0.538) HMMPfam_B2-adapt-app_C AP4B1 10717 genome.wustl.edu 37 1 114441364 114441364 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006594.2 -1 validated p.L392I 0.998 170 0% 162 16% 12 0% benign(0.406) deleterious(0.02) deleterious(0.514) HMMPfam_Adaptin_N,superfamily_ARM-type_fold DCLRE1B 64858 genome.wustl.edu 37 1 114454277 114454277 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_022836.3 +1 validated p.E355* 1.000 56 1.8% 65 36.9% 3 33.3% - - - NULL HIPK1 204851 genome.wustl.edu 37 1 114483068 114483068 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_198268.1 +1 reviewed p.A21 0.553 161 0% 170 50.6% 10 20% - - - NULL HIPK1 204851 genome.wustl.edu 37 1 114483071 114483071 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_198268.1 +1 reviewed p.K22N 1.000 165 0% 173 39.9% 7 100% probably_damaging(0.958) deleterious(0) deleterious(0.846) NULL HIPK1 204851 genome.wustl.edu 37 1 114499402 114499402 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_198268.1 +1 reviewed p.T521P 1.000 229 0% 316 43.4% 15 46.6% benign(0.114) deleterious(0.04) neutral(0.358) NULL HIPK1 204851 genome.wustl.edu 37 1 114510534 114510534 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_198268.1 +1 reviewed p.S843L 1.000 120 0% 164 23.2% 41 29.2% benign(0.245) deleterious(0) deleterious(0.470) NULL SYT6 148281 genome.wustl.edu 37 1 114640468 114640468 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_205848.2 -1 validated p.R381C 0.997 82 0% 144 48.6% 0 - probably_damaging(1) tolerated(0.18) deleterious(0.556) HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB TRIM33 51592 genome.wustl.edu 37 1 114940332 114940332 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015906.3 -1 reviewed p.D1108Y 1.000 345 0% 381 44.6% 7 42.8% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL AMPD1 270 genome.wustl.edu 37 1 115217381 115217381 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000036.2 -1 reviewed p.L598V 1.000 79 0% 133 51.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_A_deaminase,superfamily_SSF51556 AMPD1 270 genome.wustl.edu 37 1 115220970 115220970 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000036.2 -1 reviewed p.S359Y 1.000 233 0% 299 15.4% 0 - probably_damaging(0.974) deleterious(0.01) deleterious(0.822) HMMPfam_A_deaminase,superfamily_SSF51556 CSDE1 7812 genome.wustl.edu 37 1 115273261 115273261 + Silent SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001130523.1 -1 validated p.I368 1.000 278 0% 328 45.4% 174 48.8% - - - HMMPfam_CSD,HMMSmart_SM00357,superfamily_Nucleic acid-binding proteins CSDE1 7812 genome.wustl.edu 37 1 115277125 115277125 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001130523.1 -1 validated p.R189C 1.000 174 0% 190 52.1% 91 43.9% probably_damaging(0.999) tolerated(0.19) deleterious(0.540) NULL SYCP1 6847 genome.wustl.edu 37 1 115401167 115401167 + Splice_Site SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003176.2 +1 validated e5-1 1.000 113 0% 104 37.5% 0 - - - - - SYCP1 6847 genome.wustl.edu 37 1 115456635 115456635 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003176.2 +1 validated p.E563* 1.000 169 0% 168 40.5% 0 - - - - HMMPfam_SCP-1 SYCP1 6847 genome.wustl.edu 37 1 115537563 115537563 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003176.2 +1 validated p.R952W 0.001 167 0% 187 45.5% 0 - probably_damaging(0.985) deleterious(0) deleterious(0.877) NULL TSHB 7252 genome.wustl.edu 37 1 115576724 115576724 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000549.3 +1 reviewed p.P98H 1.000 243 0% 322 46.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00068,HMMPfam_Cys_knot,PatternScan_GLYCO_HORMONE_BETA_2,superfamily_Cystine-knot cytokines CASQ2 845 genome.wustl.edu 37 1 116243866 116243866 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001232.3 -1 reviewed p.E399A 0.995 480 0% 658 44.4% 4 50% unknown(0) - - NULL CASQ2 845 genome.wustl.edu 37 1 116243876 116243876 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001232.3 -1 reviewed p.D396N 0.995 469 0% 662 44.9% 3 66.6% unknown(0) - - NULL CASQ2 845 genome.wustl.edu 37 1 116269689 116269689 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001232.3 -1 reviewed p.M221V 1.000 160 0% 219 38.8% 0 - probably_damaging(0.978) tolerated(0.11) deleterious(0.692) HMMPfam_Calsequestrin,superfamily_Thioredoxin-like ATP1A1 476 genome.wustl.edu 37 1 116935580 116935580 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000701.7 +1 reviewed p.E479 1.000 196 0% 257 35.8% 458 46% - - - HMMPfam_Hydrolase,superfamily_HAD-like,superfamily_Metal cation-transporting ATPase ATP-binding domain N,superfamily_Calcium ATPase transmembrane domain M TTF2 8458 genome.wustl.edu 37 1 117626650 117626650 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003594.3 +1 reviewed p.D638 0.002 431 0% 571 36.1% 23 26% - - - HMMPfam_SNF2_N,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases TRIM45 80263 genome.wustl.edu 37 1 117661118 117661118 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_025188.3 -1 reviewed p.E254K 0.814 87 0% 103 42.7% 5 40% benign(0.001) tolerated(0.5) neutral(0.010) HMMSmart_SM00502 SPAG17 200162 genome.wustl.edu 37 1 118640368 118640368 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_206996.2 -1 validated p.L312 1.000 458 0.2% 576 42.9% 0 - - - - NULL HAO2 51179 genome.wustl.edu 37 1 119929330 119929330 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001005783.1 +1 reviewed p.R216Q 0.055 237 0% 327 17.7% 0 - benign(0.002) tolerated(0.38) neutral(0.018) HMMPfam_FMN_dh,superfamily_FMN-linked oxidoreductases ZNF697 90874 genome.wustl.edu 37 1 120168551 120168551 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001080470.1 -1 provisional p.G58D 0.003 269 0% 305 51.1% 3 33.3% benign(0) tolerated(0.62) neutral(0.004) NULL REG4 83998 genome.wustl.edu 37 1 120337285 120337285 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032044.3 -1 validated p.E145K 0.000 339 0% 427 44.3% 1 100% benign(0.037) tolerated(0.23) neutral(0.044) HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like,PatternScan_C_TYPE_LECTIN_1 ADAM30 11085 genome.wustl.edu 37 1 120437796 120437796 + Silent SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_021794.2 -1 reviewed p.C388 0.927 51 0% 79 49.4% 0 - - - - "HMMPfam_Reprolysin,superfamily_Metalloproteases (""zincins"") catalytic domain" NOTCH2 4853 genome.wustl.edu 37 1 120497715 120497715 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024408.2 -1 reviewed p.E723K 0.999 131 0% 175 45.7% 34 32.3% possibly_damaging(0.807) deleterious(0.02) deleterious(0.687) HMMSmart_EGF_CA,superfamily_SSF57196 NOTCH2 4853 genome.wustl.edu 37 1 120539803 120539803 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024408.2 -1 reviewed p.G190R 0.252 77 0% 100 43% 112 31.2% probably_damaging(0.989) tolerated(0.44) neutral(0.452) HMMSmart_EGF_CA,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_SSF57196 NBPF9 400818 genome.wustl.edu 37 1 144822053 144822053 + Silent SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001037675.2 +1 predicted p.N342S 0.003 321 0% 435 26.4% 15 6.6% - - - NULL PDE4DIP 9659 genome.wustl.edu 37 1 144879337 144879337 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014644.4 -1 validated p.V1371 1.000 250 0% 295 15.9% 0 - - - - NULL PDE4DIP 9659 genome.wustl.edu 37 1 144917574 144917574 + Silent SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014644.4 -1 validated p.R510 0.018 275 0% 356 14.9% 9 33.3% - - - NULL PDE4DIP 9659 genome.wustl.edu 37 1 144946732 144946732 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014644.4 -1 validated p.E177* 1.000 345 0% 542 18.6% 1 0% - - - NULL HFE2 148738 genome.wustl.edu 37 1 145415778 145415778 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_213653.3 +1 reviewed p.L199 0.957 69 0% 77 36.4% 0 - - - - HMMPfam_RGM_N PIAS3 10401 genome.wustl.edu 37 1 145581189 145581189 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006099.3 +1 reviewed p.E306D 1.000 66 1.5% 53 45.3% 69 36.2% probably_damaging(0.999) tolerated(0.1) deleterious(0.777) superfamily_SSF57850 PDZK1 5174 genome.wustl.edu 37 1 145748338 145748338 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002614.3 +1 provisional p.V71I 1.000 189 0% 244 16.8% 2 0% probably_damaging(0.964) deleterious(0) deleterious(0.851) HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ NBPF9 400818 genome.wustl.edu 37 1 146401764 146401764 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_001717398.2 +1 model p.I20S 0.000 184 0% 222 13.1% 1 100% probably_damaging(0.98) tolerated(0.1) deleterious(0.710) NULL NBPF9 400818 genome.wustl.edu 37 1 146412147 146412147 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_001717398.2 +1 model p.D169N 0.001 360 0% 556 16.7% 1 0% possibly_damaging(0.842) deleterious(0) deleterious(0.766) NULL FMO5 2330 genome.wustl.edu 37 1 146684896 146684896 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001461.2 -1 reviewed p.L156 0.974 186 0% 288 38.5% 1 100% - - - HMMPfam_FMO-like,superfamily_FAD/NAD(P)-binding domain ACP6 51205 genome.wustl.edu 37 1 147131810 147131810 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016361.3 -1 validated p.P100 0.685 160 0% 147 37.4% 32 37.5% - - - HMMPfam_Acid_phosphat_A,superfamily_Phosphoglycerate mutase-like SV2A 9900 genome.wustl.edu 37 1 149877520 149877520 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014849.3 -1 validated p.A653T 1.000 93 0% 123 43.9% 5 20% benign(0.218) tolerated(0.4) neutral(0.037) HMMPfam_MFS_1,superfamily_MFS general substrate transporter OTUD7B 56957 genome.wustl.edu 37 1 149916121 149916121 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020205.2 -1 validated p.G723S 0.852 30 0% 30 50% 17 70.5% benign(0.088) tolerated(0.05) neutral(0.352) NULL VPS45 11311 genome.wustl.edu 37 1 150053549 150053549 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_007259.3 +1 reviewed p.F271L 1.000 209 0% 281 39.9% 12 16.6% probably_damaging(0.988) deleterious(0) deleterious(0.882) HMMPfam_Sec1,superfamily_Sec1/munc18-like (SM) proteins VPS45 11311 genome.wustl.edu 37 1 150082737 150082737 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_007259.3 +1 reviewed p.T540 0.075 107 0% 152 46.7% 22 45.4% - - - HMMPfam_Sec1,superfamily_Sec1/munc18-like (SM) proteins ANP32E 81611 genome.wustl.edu 37 1 150198948 150198948 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_030920.3 -1 validated p.E225* 1.000 581 0% 712 44.8% 31 19.3% - - - NULL ANP32E 81611 genome.wustl.edu 37 1 150204119 150204119 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_030920.3 -1 validated p.R67Q 0.968 154 0% 189 14.8% 4 0% possibly_damaging(0.827) tolerated(0.18) neutral(0.370) superfamily_L domain-like PRPF3 9129 genome.wustl.edu 37 1 150305577 150305577 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004698.2 +1 reviewed p.R212Q 1.000 80 0% 73 41.1% 61 49.1% probably_damaging(0.973) tolerated(1) neutral(0.415) NULL TMOD4 29765 genome.wustl.edu 37 1 151147252 151147252 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_013353.2 -1 validated p.E34K 1.000 170 0% 247 47.8% 0 - probably_damaging(0.959) tolerated(0.13) deleterious(0.655) HMMPfam_Tropomodulin VPS72 6944 genome.wustl.edu 37 1 151156814 151156814 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005997.1 -1 provisional p.E181* 1.000 129 0% 159 21.4% 51 3.9% - - - HMMPfam_YL1 PI4KB 5298 genome.wustl.edu 37 1 151265334 151265334 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002651.1 -1 provisional p.I827 1.000 207 0% 249 47.8% 133 40.6% - - - NULL RFX5 5993 genome.wustl.edu 37 1 151315125 151315125 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000449.3 -1 reviewed p.K463T 0.998 93 0% 127 46.5% 20 50% possibly_damaging(0.602) deleterious(0) deleterious(0.653) NULL LINGO4 339398 genome.wustl.edu 37 1 151773497 151773497 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001004432.2 -1 provisional p.G562C 1.000 46 0% 72 45.8% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL RORC 6097 genome.wustl.edu 37 1 151787549 151787549 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005060.3 -1 reviewed p.F217L 0.037 78 0% 87 43.7% 18 44.4% benign(0) tolerated(0.43) neutral(0.013) NULL THEM5 284486 genome.wustl.edu 37 1 151820721 151820721 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_182578.3 -1 validated p.S171F 0.963 116 0% 110 43.6% 0 - benign(0.322) tolerated(0.08) neutral(0.401) HMMPfam_4HBT,superfamily_SSF54637 TCHHL1 126637 genome.wustl.edu 37 1 152059078 152059078 + Silent SNP A A T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001008536.1 -1 provisional p.S360 0.002 231 0% 315 45.4% 0 - - - - NULL TCHH 7062 genome.wustl.edu 37 1 152080097 152080097 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_007113.2 -1 provisional p.Q1866* 0.950 284 0% 422 28.7% 3 66.6% - - - NULL TCHH 7062 genome.wustl.edu 37 1 152081142 152081142 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_007113.2 -1 provisional p.F1517 0.303 159 0% 248 46.4% 1 100% - - - NULL HRNR 388697 genome.wustl.edu 37 1 152192735 152192735 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001009931.1 -1 validated p.S457Y 0.004 219 0.5% 328 47.9% 0 - unknown(0) - - NULL FLG2 388698 genome.wustl.edu 37 1 152326695 152326695 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001014342.2 -1 provisional p.F1189L 0.000 125 0% 157 44.6% 0 - unknown(0) tolerated(0.68) - NULL FLG2 388698 genome.wustl.edu 37 1 152329042 152329042 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001014342.2 -1 provisional p.S407Y 0.006 144 0% 198 30.8% 0 - unknown(0) deleterious(0.03) - NULL LCE6A 448835 genome.wustl.edu 37 1 152816228 152816228 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001128600.1 +1 validated p.E78* 0.003 124 0% 173 41% 0 - - - - NULL SMCP 4184 genome.wustl.edu 37 1 152857138 152857138 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_030663.2 +1 reviewed p.V80 0.000 82 0% 155 40% 0 - - - - NULL SPRR4 163778 genome.wustl.edu 37 1 152944513 152944513 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_173080.1 +1 provisional p.Q49H 0.976 144 0% 218 44.5% 0 - unknown(0) - - HMMPfam_Cornifin SPRR2A 6700 genome.wustl.edu 37 1 153029056 153029056 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005988.2 -1 validated p.Q52H 0.233 396 0% 521 43% 2 0% unknown(0) - - NULL NPR1 4881 genome.wustl.edu 37 1 153655898 153655898 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000906.3 +1 validated p.S437L 0.003 98 0% 130 49.2% 4 25% benign(0.01) tolerated(0.34) neutral(0.024) superfamily_Periplasmic binding protein-like I NPR1 4881 genome.wustl.edu 37 1 153661483 153661483 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000906.3 +1 validated p.A824 0.999 21 0% 47 36.2% 10 20% - - - superfamily_Protein kinase-like (PK-like) NPR1 4881 genome.wustl.edu 37 1 153665737 153665737 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000368677 +1 known p.A244S 0.021 62 0% 90 54.4% 0 - benign(0) tolerated(0.95) - NULL INTS3 65123 genome.wustl.edu 37 1 153745682 153745682 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_023015.3 +1 validated p.T1022M 1.000 156 0.6% 168 41.7% 20 40% possibly_damaging(0.756) tolerated(0.07) deleterious(0.598) NULL ENSG00000246604 0 genome.wustl.edu 37 1 154184918 154184918 + RNA SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000502106 +1 novel NULL 0.000 80 0% 87 40.2% 0 - - - - - ADAR 103 genome.wustl.edu 37 1 154558783 154558783 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001111.3 -1 reviewed p.R1026W 1.000 72 0% 92 41.3% 189 38% probably_damaging(0.993) tolerated(0.16) deleterious(0.510) HMMPfam_A_deamin,HMMSmart_SM00552 PYGO2 90780 genome.wustl.edu 37 1 154931830 154931830 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_138300.3 -1 validated p.A216T 1.000 114 0.9% 98 33.7% 4 25% benign(0.138) tolerated(1) neutral(0.011) NULL SHC1 6464 genome.wustl.edu 37 1 154938237 154938237 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001130040.1 -1 validated p.R470C 0.995 37 0% 41 41.5% 103 33.9% probably_damaging(0.953) deleterious(0.02) deleterious(0.780) superfamily_SH2 domain ZBTB7B 51043 genome.wustl.edu 37 1 154988280 154988280 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015872.2 +1 validated p.R382* 0.976 11 0% 25 64% 179 46.3% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 EFNA4 1945 genome.wustl.edu 37 1 155041455 155041455 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005227.2 +1 reviewed p.R199Q 0.994 232 0% 283 39.2% 25 36% unknown(0) - - NULL MTX1 4580 genome.wustl.edu 37 1 155180410 155180410 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002455.3 +1 validated p.R224* 1.000 98 0% 136 43.4% 54 1.8% - - - HMMPfam_Tom37 SCAMP3 10067 genome.wustl.edu 37 1 155228742 155228742 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005698.2 -1 reviewed p.R131Q 1.000 147 0% 165 44.2% 93 41.9% probably_damaging(0.979) tolerated(0.29) neutral(0.451) HMMPfam_SCAMP RUSC1-AS1 284618 genome.wustl.edu 37 1 155290673 155290673 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001039517.1 -1 predicted p.R203C 0.027 22 0% 50 44% 0 - - - - NULL YY1AP1 55249 genome.wustl.edu 37 1 155646526 155646526 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_139118.1 -1 reviewed p.L112P 0.993 288 0% 452 40% 39 43.5% benign(0) tolerated(1) - NULL GON4L 54856 genome.wustl.edu 37 1 155774895 155774895 + Missense_Mutation SNP G G T rs59332147 TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001037533.1 -1 validated p.S497Y 1.000 221 0% 307 17.9% 8 25% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CCT3 7203 genome.wustl.edu 37 1 156280947 156280947 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005998.3 -1 reviewed p.R399C 1.000 77 0% 78 46.2% 425 45.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cpn60_TCP1,superfamily_GroEL-ATPase,superfamily_SSF54849 IQGAP3 128239 genome.wustl.edu 37 1 156539206 156539206 + Silent SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_178229.4 -1 validated p.V29 0.901 41 0% 73 16.4% 7 14.2% - - - superfamily_Calponin-homology NES 10763 genome.wustl.edu 37 1 156641941 156641941 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006617.1 -1 reviewed p.S680Y 0.002 181 0% 226 42% 1 0% benign(0.293) deleterious(0.03) neutral(0.455) NULL NES 10763 genome.wustl.edu 37 1 156642527 156642527 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006617.1 -1 reviewed p.G485C 0.001 216 0% 261 44.4% 9 11.1% benign(0.113) deleterious(0) neutral(0.454) NULL RRNAD1 51093 genome.wustl.edu 37 1 156701795 156701795 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015997.3 +1 validated p.D42Y 0.999 91 0% 93 16.1% 34 26.4% probably_damaging(0.986) deleterious(0.01) deleterious(0.840) NULL MRPL24 79590 genome.wustl.edu 37 1 156708373 156708373 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024540.3 -1 reviewed p.R42C 1.000 60 0% 100 23% 132 16.6% probably_damaging(0.997) deleterious(0) deleterious(0.911) superfamily_Transl_SH3_like INSRR 3645 genome.wustl.edu 37 1 156812265 156812265 + Silent SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014215.1 -1 validated p.P1054 1.000 88 0% 103 22.3% 0 - - - - HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like NTRK1 4914 genome.wustl.edu 37 1 156845920 156845920 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002529.3 +1 reviewed p.G517V 1.000 68 0% 73 56.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP ARHGEF11 9826 genome.wustl.edu 37 1 156948078 156948078 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_198236.1 -1 reviewed p.R143Q 0.884 401 0% 509 46% 14 21.4% possibly_damaging(0.85) tolerated(0.56) neutral(0.334) NULL ARHGEF11 9826 genome.wustl.edu 37 1 156955894 156955894 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_198236.1 -1 reviewed p.S35L 0.999 265 0% 339 41.3% 18 27.7% possibly_damaging(0.821) deleterious(0) deleterious(0.755) superfamily_PDZ ETV3L 440695 genome.wustl.edu 37 1 157069263 157069263 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001004341.2 -1 validated p.I18T 0.999 49 0% 79 45.6% 0 - benign(0.008) tolerated(0.29) neutral(0.029) NULL FCRL5 83416 genome.wustl.edu 37 1 157485636 157485636 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_031281.2 -1 validated p.N947S 0.001 189 0% 230 46.1% 0 - benign(0.012) tolerated(0.17) neutral(0.059) NULL FCRL3 115352 genome.wustl.edu 37 1 157666943 157666943 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_052939.3 -1 reviewed p.Q277H 0.000 159 0% 210 18.1% 0 - benign(0.256) tolerated(0.55) neutral(0.034) HMMSmart_SM00409,superfamily_Immunoglobulin FCRL1 115350 genome.wustl.edu 37 1 157771786 157771786 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_052938.4 -1 reviewed p.E269* 0.978 90 0% 129 45% 0 - - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin KIRREL 55243 genome.wustl.edu 37 1 158061171 158061171 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018240.5 +1 validated p.F432L 1.000 136 0% 153 45.8% 8 0% benign(0.248) tolerated(0.36) neutral(0.045) HMMSmart_SM00409,superfamily_Immunoglobulin CD1C 911 genome.wustl.edu 37 1 158261894 158261894 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001765.2 +1 reviewed p.K117E 0.000 106 0% 130 18.5% 0 - benign(0.001) tolerated(0.86) neutral(0.001) HMMPfam_MHC_I,superfamily_MHC_I/II-like_Ag-recog OR6P1 128366 genome.wustl.edu 37 1 158533033 158533033 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000334632 -1 known p.D121G 1.000 104 0% 115 37.4% 0 - possibly_damaging(0.886) deleterious(0) deleterious(0.791) HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 OR10X1 128367 genome.wustl.edu 37 1 158548875 158548875 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001004477.1 -1 provisional p.S272F 0.542 124 0% 186 45.2% 0 - probably_damaging(0.955) deleterious(0) deleterious(0.843) HMMPfam_7tm_1,superfamily_SSF81321 OR10X1 128367 genome.wustl.edu 37 1 158548974 158548974 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001004477.1 -1 provisional p.S239Y 0.001 95 0% 127 43.3% 0 - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_7tm_1,superfamily_SSF81321 SPTA1 6708 genome.wustl.edu 37 1 158607858 158607858 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003126.2 -1 reviewed p.F1718L 1.000 190 0% 229 46.7% 0 - probably_damaging(0.991) tolerated(0.19) deleterious(0.493) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat SPTA1 6708 genome.wustl.edu 37 1 158615040 158615040 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003126.2 -1 reviewed p.D1378N 0.288 179 0% 253 43.1% 0 - benign(0.018) tolerated(0.27) neutral(0.034) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat SPTA1 6708 genome.wustl.edu 37 1 158631176 158631176 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003126.2 -1 reviewed p.K830Q 1.000 285 0% 393 45.3% 0 - benign(0.273) deleterious(0) deleterious(0.474) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat OR6K3 391114 genome.wustl.edu 37 1 158687528 158687528 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001005327.2 -1 validated p.I142 1.000 111 0% 130 47.7% 0 - - - - HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 OR6N2 81442 genome.wustl.edu 37 1 158746549 158746549 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001005278.1 -1 provisional p.R293C 0.997 203 0% 273 23.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF81321 PYHIN1 149628 genome.wustl.edu 37 1 158913694 158913694 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152501.3 +1 validated p.R373* 0.001 147 0% 194 40.2% 0 - - - - HMMPfam_HIN CADM3 57863 genome.wustl.edu 37 1 159162433 159162433 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_021189.3 +1 validated p.N133D 1.000 147 0% 184 47.3% 0 - benign(0) tolerated(0.38) neutral(0.018) HMMSmart_IG,HMMPfam_V-set,superfamily_SSF48726 FCER1A 2205 genome.wustl.edu 37 1 159275892 159275892 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002001.2 +1 reviewed p.G149V 0.000 178 0% 231 41.1% 0 - probably_damaging(0.993) deleterious(0) deleterious(0.895) HMMSmart_IG,HMMPfam_V-set,superfamily_SSF48726 OR10J1 26476 genome.wustl.edu 37 1 159409596 159409596 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_012351.2 +1 validated p.N16K 0.002 215 0% 258 38.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Family A G protein-coupled receptor-like FCRL6 343413 genome.wustl.edu 37 1 159778098 159778098 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001004310.2 +1 validated p.F61 0.000 52 0% 81 39.5% 0 - - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin ATP1A2 477 genome.wustl.edu 37 1 160100012 160100012 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000702.3 +1 reviewed p.D528N 1.000 54 0% 105 43.8% 1 0% benign(0.001) tolerated(0.18) neutral(0.056) HMMPfam_Hydrolase,superfamily_SSF56784,superfamily_SSF81660,superfamily_SSF81665 ATP1A4 480 genome.wustl.edu 37 1 160143912 160143912 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_144699.3 +1 reviewed p.A668V 1.000 80 0% 136 44.1% 0 - possibly_damaging(0.466) deleterious(0.01) deleterious(0.558) HMMPfam_Hydrolase,superfamily_HAD-like,superfamily_Calcium ATPase transmembrane domain M NCSTN 23385 genome.wustl.edu 37 1 160327987 160327987 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015331.2 +1 reviewed p.V686I 0.029 171 0% 210 40.5% 215 42.7% benign(0.057) tolerated(0.3) neutral(0.032) NULL CD84 8832 genome.wustl.edu 37 1 160518080 160518080 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003874.3 -1 validated p.P318H 0.001 284 0% 365 47.1% 0 - probably_damaging(0.993) tolerated(0.09) deleterious(0.746) NULL CD244 51744 genome.wustl.edu 37 1 160811230 160811230 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016382.3 -1 reviewed p.D142G 0.000 80 0% 114 47.4% 0 - benign(0.019) tolerated(0.13) neutral(0.254) NULL ITLN1 55600 genome.wustl.edu 37 1 160849191 160849191 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017625.2 -1 validated p.A233 0.013 162 0% 210 34.3% 0 - - - - superfamily_Fibrinogen C-terminal domain-like F11R 50848 genome.wustl.edu 37 1 160970428 160970428 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016946.4 -1 reviewed p.I127 0.742 134 0% 161 38.5% 435 41.8% - - - HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin ARHGAP30 257106 genome.wustl.edu 37 1 161017863 161017863 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001025598.1 -1 validated p.R983Q 0.948 43 0% 42 45.2% 1 100% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL B4GALT3 8703 genome.wustl.edu 37 1 161145756 161145756 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003779.2 -1 reviewed p.R32Q 0.998 63 0% 74 17.6% 12 33.3% benign(0.339) tolerated(0.08) neutral(0.407) NULL NDUFS2 4720 genome.wustl.edu 37 1 161179031 161179031 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004550.4 +1 reviewed p.E148K 0.997 226 0% 238 43.3% 145 46.2% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_SSF56762 FCGR3A 2214 genome.wustl.edu 37 1 161518212 161518212 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000426740 -1 known p.S123L 0.000 420 0% 536 26.7% 3 0% - - - superfamily_Immunoglobulin FCGR3B 2215 genome.wustl.edu 37 1 161596169 161596169 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000570.3 -1 validated p.R115W 0.000 169 0% 201 48.8% 2 0% probably_damaging(0.999) tolerated(0.08) deleterious(0.790) HMMSmart_SM00409,superfamily_Immunoglobulin OLFML2B 25903 genome.wustl.edu 37 1 161954728 161954728 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015441.1 -1 provisional p.T506I 0.938 288 0% 401 41.1% 6 0% possibly_damaging(0.778) tolerated(0.14) deleterious(0.540) HMMPfam_OLF,HMMSmart_SM00284 OLFML2B 25903 genome.wustl.edu 37 1 161993207 161993207 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015441.1 -1 provisional p.R5Q 0.018 69 0% 110 26.4% 6 0% benign(0.095) deleterious(0.01) neutral(0.413) NULL NOS1AP 9722 genome.wustl.edu 37 1 162337141 162337141 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014697.2 +1 reviewed p.N469D 1.000 11 0% 19 36.8% 0 - possibly_damaging(0.936) deleterious(0) deleterious(0.826) NULL UHMK1 127933 genome.wustl.edu 37 1 162467922 162467922 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_175866.4 +1 reviewed p.G44 1.000 6 0.000 11 0.636 7 57.1% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase UHMK1 127933 genome.wustl.edu 37 1 162482316 162482316 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_175866.4 +1 reviewed p.R292I 0.988 441 0% 476 12.4% 14 7.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase DDR2 4921 genome.wustl.edu 37 1 162749998 162749998 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001014796.1 +1 reviewed p.E844* 1.000 207 0% 292 38.7% 8 0% - - - HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like POGK 57645 genome.wustl.edu 37 1 166819117 166819117 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017542.3 +1 reviewed p.R434H 0.998 136 0% 226 43.4% 22 50% probably_damaging(0.999) tolerated(0.08) deleterious(0.790) HMMPfam_DDE ILDR2 387597 genome.wustl.edu 37 1 166944477 166944477 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_199351.1 -1 provisional p.S10Y 0.332 139 0% 150 41.3% 1 0% benign(0) tolerated(0.09) neutral(0.296) NULL ADCY10 55811 genome.wustl.edu 37 1 167849384 167849384 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018417.4 -1 reviewed p.I395 0.960 94 0% 122 45.9% 0 - - - - HMMPfam_Guanylate_cyc,superfamily_Adenylyl and guanylyl cyclase catalytic domain DCAF6 55827 genome.wustl.edu 37 1 167956836 167956836 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018442.2 +1 validated p.D181G 1.000 199 0% 291 48.1% 49 34.6% probably_damaging(0.998) tolerated(0.33) deleterious(0.498) superfamily_WD40_like,HMMPfam_WD40 DCAF6 55827 genome.wustl.edu 37 1 168037605 168037605 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018442.2 +1 validated p.R828* 1.000 240 0% 222 15.3% 23 0% - - - superfamily_WD40_like DCAF6 55827 genome.wustl.edu 37 1 168037606 168037606 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018442.2 +1 validated p.R828Q 1.000 242 0.4% 223 39% 23 82.6% possibly_damaging(0.732) deleterious(0.01) deleterious(0.673) superfamily_WD40_like GPR161 23432 genome.wustl.edu 37 1 168065851 168065851 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_153832.1 -1 provisional p.R332C 0.997 63 0% 79 36.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Family A G protein-coupled receptor-like TBX19 9095 genome.wustl.edu 37 1 168262449 168262449 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005149.2 +1 reviewed p.R179Q 0.993 187 0% 251 51% 1 100% possibly_damaging(0.631) tolerated(0.06) deleterious(0.543) HMMPfam_T-box,HMMSmart_TBOX,superfamily_P53_like_DNA_bnd ATP1B1 481 genome.wustl.edu 37 1 169096516 169096516 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001677.3 +1 reviewed p.R146Q 0.987 257 0% 364 45.1% 57 52.6% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMPfam_Na_K-ATPase,PatternScan_ATPASE_NA_K_BETA_2 C1orf114 57821 genome.wustl.edu 37 1 169388371 169388371 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_021179.1 -1 predicted p.E365D 0.988 458 0% 524 12.2% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL F5 2153 genome.wustl.edu 37 1 169500163 169500163 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000130.4 -1 reviewed p.S1690F 1.000 210 0% 232 24.6% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_Cupredoxins F5 2153 genome.wustl.edu 37 1 169510007 169510007 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000130.4 -1 reviewed p.D1441Y 0.984 211 0% 274 50.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_LSPR F5 2153 genome.wustl.edu 37 1 169510315 169510315 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000130.4 -1 reviewed p.N1338S 0.000 776 0% 949 42.4% 0 - benign(0) tolerated(0.28) neutral(0.032) HMMPfam_LSPR F5 2153 genome.wustl.edu 37 1 169524520 169524520 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000130.4 -1 reviewed p.T340A 0.731 225 0% 338 42.9% 0 - probably_damaging(0.995) deleterious(0.02) deleterious(0.841) NULL SELE 6401 genome.wustl.edu 37 1 169696645 169696645 + Missense_Mutation SNP G G C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000450.2 -1 reviewed p.A497G 0.000 82 0% 103 44.7% 1 0% benign(0.083) tolerated(0.36) neutral(0.026) HMMPfam_Sushi,HMMSmart_SM00032,HMMSmart_SM00181,superfamily_Complement control module/SCR domain SELE 6401 genome.wustl.edu 37 1 169697037 169697037 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000450.2 -1 reviewed p.P437 0.000 68 0% 81 39.5% 0 - - - - HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain SCYL3 57147 genome.wustl.edu 37 1 169857854 169857854 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_181093.2 -1 validated p.K43R 1.000 456 0% 563 47.4% 3 33.3% possibly_damaging(0.799) tolerated(0.66) neutral(0.303) HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) KIFAP3 22920 genome.wustl.edu 37 1 170024464 170024464 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014970.2 -1 reviewed p.R49Q 1.000 225 0.4% 313 39.9% 4 25% possibly_damaging(0.863) tolerated(0.08) deleterious(0.633) HMMPfam_KAP GORAB 92344 genome.wustl.edu 37 1 170521544 170521544 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152281.2 +1 reviewed p.L376I 0.004 163 0% 250 43.2% 12 41.6% benign(0.17) tolerated(0.19) neutral(0.065) NULL C1orf129 80133 genome.wustl.edu 37 1 170927678 170927678 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_025063.2 +1 validated p.S50Y 0.996 263 0% 346 37.9% 0 - possibly_damaging(0.946) deleterious(0) deleterious(0.835) NULL FMO3 2328 genome.wustl.edu 37 1 171076815 171076815 + Splice_Site SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001002294.2 +1 reviewed e3-1 1.000 234 0% 285 25.3% 0 - - - - - FMO2 2327 genome.wustl.edu 37 1 171178011 171178011 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001460.2 +1 reviewed p.A445 0.000 264 0% 321 49.8% 0 - - - - HMMPfam_FMO-like ANKRD45 339416 genome.wustl.edu 37 1 173594037 173594037 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_198493.2 -1 validated p.K207Q 0.058 308 0% 356 44.1% 1 0% probably_damaging(0.996) tolerated(0.09) deleterious(0.758) superfamily_Heat shock protein 70kD (HSP70) C-terminal subdomain RC3H1 149041 genome.wustl.edu 37 1 173934205 173934205 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_172071.2 -1 validated p.L463W 1.000 98 0% 132 38.6% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL RC3H1 149041 genome.wustl.edu 37 1 173961984 173961984 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_172071.2 -1 validated p.R47H 1.000 200 0% 291 46.4% 5 20% possibly_damaging(0.952) deleterious(0.03) deleterious(0.760) HMMSmart_SM00184,superfamily_RING/U-box TNR 7143 genome.wustl.edu 37 1 175362946 175362946 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000422274 -1 known p.R167* 0.877 204 0% 231 48.5% 0 - - - - NULL RFWD2 64326 genome.wustl.edu 37 1 175957509 175957509 + Silent SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_022457.5 -1 validated p.K629 0.997 298 0% 371 41.5% 59 38.9% - - - HMMSmart_SM00320,superfamily_WD40 repeat-like RFWD2 64326 genome.wustl.edu 37 1 176055021 176055021 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_022457.5 -1 validated p.K344N 1.000 171 0% 208 37.5% 26 53.8% benign(0.137) tolerated(0.28) neutral(0.043) superfamily_WD40 repeat-like FAM5B 57795 genome.wustl.edu 37 1 177245369 177245369 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_021165.2 +1 provisional p.R271C 1.000 21 0% 41 41.5% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMSmart_SM00457 FAM5B 57795 genome.wustl.edu 37 1 177247810 177247810 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_021165.2 +1 provisional p.L375P 1.000 55 0% 72 37.5% 0 - possibly_damaging(0.896) deleterious(0.01) deleterious(0.759) NULL SEC16B 89866 genome.wustl.edu 37 1 177905488 177905488 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_033127.2 -1 validated p.V839A 0.000 317 0% 407 36.9% 1 0% benign(0.002) tolerated(0.27) neutral(0.034) NULL SEC16B 89866 genome.wustl.edu 37 1 177921100 177921100 + Silent SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_033127.2 -1 validated p.P498 0.026 101 0% 154 40.3% 2 0% - - - NULL RASAL2 9462 genome.wustl.edu 37 1 178427528 178427528 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_170692.2 +1 reviewed p.S1023Y 1.000 57 0% 67 50.7% 16 37.5% probably_damaging(0.995) deleterious(0.01) deleterious(0.863) NULL ANGPTL1 9068 genome.wustl.edu 37 1 178822893 178822893 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004673.3 -1 reviewed p.E285* 1.000 214 0% 302 41.4% 0 - - - - HMMPfam_Fibrinogen_C,HMMSmart_FBG,superfamily_Fibrinogen_a/b/g_C RALGPS2 55103 genome.wustl.edu 37 1 178854384 178854384 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000415888 +1 known p.S97Y 0.000 75 0% 111 41.4% 0 - unknown(0) - - NULL FAM20B 9917 genome.wustl.edu 37 1 179033145 179033145 + Missense_Mutation SNP T T A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014864.3 +1 validated p.S220T 0.993 155 0% 192 41.7% 20 30% benign(0.002) tolerated(0.59) neutral(0.004) HMMPfam_DUF1193 ABL2 27 genome.wustl.edu 37 1 179077836 179077836 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_007314.3 -1 reviewed p.G856* 1.000 90 0% 118 42.4% 2 50% - - - NULL ABL2 27 genome.wustl.edu 37 1 179078402 179078402 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_007314.3 -1 reviewed p.K667R 1.000 226 0% 288 44.4% 1 100% possibly_damaging(0.873) deleterious(0) deleterious(0.784) NULL ABL2 27 genome.wustl.edu 37 1 179084162 179084162 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_007314.3 -1 reviewed p.F471C 1.000 172 0% 235 45.5% 1 0% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) SOAT1 6646 genome.wustl.edu 37 1 179307019 179307019 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003101.4 +1 provisional p.R126H 0.000 352 0% 395 42.8% 12 50% possibly_damaging(0.732) tolerated(0.08) deleterious(0.568) NULL AXDND1 126859 genome.wustl.edu 37 1 179363084 179363084 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_144696.4 +1 validated p.D304N 1.000 220 0% 260 41.9% 0 - unknown(0) tolerated(0.48) - NULL CEP350 9857 genome.wustl.edu 37 1 179990001 179990001 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014810.4 +1 reviewed p.F1031S 1.000 30 0% 33 42.4% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CEP350 9857 genome.wustl.edu 37 1 180006139 180006139 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014810.4 +1 reviewed p.S1342L 1.000 235 0% 302 47% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL CEP350 9857 genome.wustl.edu 37 1 180047767 180047767 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014810.4 +1 reviewed p.I1979M 1.000 176 0% 236 17.4% 2 50% benign(0.052) tolerated(0.06) neutral(0.326) NULL CEP350 9857 genome.wustl.edu 37 1 180063216 180063216 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014810.4 +1 reviewed p.S2659* 0.898 88 0% 108 39.8% 0 - - - - NULL XPR1 9213 genome.wustl.edu 37 1 180794300 180794300 + Splice_Site SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004736.3 +1 validated e9-1 1.000 356 0.3% 405 40.5% 0 - - - - - MR1 3140 genome.wustl.edu 37 1 181018257 181018257 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001531.1 +1 provisional p.S46L 0.095 122 0% 154 25.3% 2 0% probably_damaging(0.955) tolerated(0.13) deleterious(0.651) HMMPfam_MHC_I,superfamily_MHC antigen-recognition domain RGSL1 353299 genome.wustl.edu 37 1 182499414 182499414 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001137669.1 +1 validated p.E721* 0.202 168 0% 208 37.5% 0 - - - - superfamily_Regulator of G-protein signaling RGS NPL 80896 genome.wustl.edu 37 1 182794932 182794932 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_030769.1 +1 provisional p.F252C 1.000 447 0% 516 47.9% 0 - probably_damaging(0.989) deleterious(0) deleterious(0.884) HMMPfam_DHDPS,superfamily_Aldolase SHCBP1L 81626 genome.wustl.edu 37 1 182872239 182872239 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_030933.2 -1 validated p.H549N 1.000 286 0% 358 37.4% 0 - probably_damaging(0.978) tolerated(0.12) deleterious(0.681) HMMSmart_PbH1,superfamily_Pectin_lyas_like NMNAT2 23057 genome.wustl.edu 37 1 183387373 183387373 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015039.2 -1 reviewed p.I10 1.000 315 0% 465 40.6% 0 - - - - superfamily_Nucleotidylyl transferase RGL1 23179 genome.wustl.edu 37 1 183854066 183854066 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015149.3 +1 validated p.I350 1.000 137 0% 178 43.3% 7 14.2% - - - HMMPfam_RasGEF,HMMSmart_SM00147,superfamily_Ras GEF FAM129A 116496 genome.wustl.edu 37 1 184764666 184764666 + Silent SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_052966.2 -1 validated p.N744 0.000 284 0% 374 48.4% 0 - - - - NULL TRMT1L 81627 genome.wustl.edu 37 1 185094207 185094207 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_030934.4 -1 reviewed p.R543I 1.000 178 0% 237 46% 6 50% possibly_damaging(0.822) deleterious(0) deleterious(0.756) HMMPfam_TRM,superfamily_S-adenosyl-L-methionine-dependent methyltransferases IVNS1ABP 10625 genome.wustl.edu 37 1 185267182 185267182 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006469.4 -1 validated p.K638N 1.000 108 0% 97 40.2% 44 34% benign(0.001) tolerated(0.19) neutral(0.050) HMMSmart_SM00612,superfamily_Galactose oxidase central domain IVNS1ABP 10625 genome.wustl.edu 37 1 185277949 185277949 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006469.4 -1 validated p.M114L 1.000 460 0% 455 43.1% 16 31.2% benign(0) tolerated(0.14) neutral(0.249) HMMSmart_SM00225,superfamily_POZ domain,HMMPfam_BTB HMCN1 83872 genome.wustl.edu 37 1 185833660 185833660 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_031935.2 +1 reviewed p.S133Y 1.000 415 0% 550 15.6% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) superfamily_vWA-like HMCN1 83872 genome.wustl.edu 37 1 185932925 185932925 + Silent SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_031935.2 +1 reviewed p.L666 1.000 175 0% 203 44.8% 0 - - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin HMCN1 83872 genome.wustl.edu 37 1 185985292 185985292 + Silent SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_031935.2 +1 reviewed p.E1704 0.761 197 0% 280 50.7% 0 - - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin HMCN1 83872 genome.wustl.edu 37 1 185987459 185987459 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_031935.2 +1 reviewed p.K1815 0.852 195 0% 297 43.1% 0 - - - - HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin HMCN1 83872 genome.wustl.edu 37 1 185992178 185992178 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_031935.2 +1 reviewed p.R1881Q 1.000 127 0% 162 42% 1 0% probably_damaging(0.999) tolerated(0.68) deleterious(0.492) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin HMCN1 83872 genome.wustl.edu 37 1 186037123 186037123 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_031935.2 +1 reviewed p.N2621K 0.997 158 0% 286 44.8% 0 - probably_damaging(0.996) tolerated(0.89) neutral(0.462) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin HMCN1 83872 genome.wustl.edu 37 1 186120737 186120737 + Splice_Site SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_031935.2 +1 reviewed e95-1 1.000 194 0% 242 26.4% 0 - - - - - PRG4 10216 genome.wustl.edu 37 1 186269222 186269222 + Splice_Site SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005807.3 +1 reviewed e2-1 1.000 104 0% 151 37.7% 0 - - - - - PRG4 10216 genome.wustl.edu 37 1 186275481 186275481 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005807.3 +1 reviewed p.K210N 0.206 155 0% 253 39.5% 0 - unknown(0) - - NULL TPR 7175 genome.wustl.edu 37 1 186327712 186327712 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003292.2 -1 reviewed p.R487Q 1.000 541 0.4% 591 42% 14 28.5% benign(0.002) tolerated(1) - NULL TPR 7175 genome.wustl.edu 37 1 186329990 186329990 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003292.2 -1 reviewed p.D336Y 0.982 463 0% 584 41.4% 2 50% benign(0.296) deleterious(0.02) deleterious(0.475) NULL C1orf27 54953 genome.wustl.edu 37 1 186375247 186375247 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017847.5 +1 validated p.R345* 1.000 279 0.4% 375 42.7% 4 50% - - - NULL PLA2G4A 5321 genome.wustl.edu 37 1 186909113 186909113 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024420.2 +1 reviewed p.R307I 1.000 224 0% 241 13.7% 5 40% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_PLA2_B,HMMSmart_SM00022,superfamily_FabD/lysophospholipase-like TROVE2 6738 genome.wustl.edu 37 1 193045659 193045659 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004600.5 +1 validated p.P277L 1.000 231 0% 257 45.5% 3 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TROVE CDC73 79577 genome.wustl.edu 37 1 193111048 193111048 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024529.4 +1 reviewed p.R194I 1.000 114 0% 115 33.9% 22 40.9% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL CDC73 79577 genome.wustl.edu 37 1 193202142 193202142 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024529.4 +1 reviewed p.K392Q 1.000 176 0% 214 30.8% 9 33.3% probably_damaging(0.996) deleterious(0.04) deleterious(0.810) HMMPfam_CDC73 KCNT2 343450 genome.wustl.edu 37 1 196311227 196311227 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_198503.2 -1 validated p.S512Y 1.000 208 0% 277 26% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_BK_channel_a,superfamily_NAD(P)-binding Rossmann-fold domains CFHR1 3078 genome.wustl.edu 37 1 196794680 196794680 + Missense_Mutation SNP G G T rs41315553 TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002113.2 +1 reviewed p.Q44H 0.000 186 0% 224 31.2% 0 - benign(0.044) deleterious(0.01) neutral(0.408) HMMPfam_Sushi,HMMSmart_CCP,superfamily_Complement_control_module CFHR1 3078 genome.wustl.edu 37 1 196796027 196796027 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002113.2 +1 reviewed p.D108Y 0.023 205 0% 251 85.3% 0 - probably_damaging(0.993) deleterious(0) deleterious(0.895) HMMPfam_Sushi,HMMSmart_CCP,superfamily_Complement_control_module CFHR4 10877 genome.wustl.edu 37 1 196871667 196871667 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006684.2 +1 validated p.F60V 0.158 297 0% 353 41.9% 0 - benign(0.013) deleterious(0.01) neutral(0.406) HMMPfam_Sushi,HMMSmart_CCP,superfamily_Complement_control_module ASPM 259266 genome.wustl.edu 37 1 197069989 197069989 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018136.4 -1 reviewed p.Y2798H 0.015 146 0% 220 44.5% 6 50% benign(0.009) tolerated(0.15) neutral(0.241) NULL ASPM 259266 genome.wustl.edu 37 1 197073350 197073350 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018136.4 -1 reviewed p.S1677 0.000 135 0% 174 23.6% 3 33.3% - - - HMMSmart_SM00015,superfamily_P-loop containing nucleoside triphosphate hydrolases ZBTB41 360023 genome.wustl.edu 37 1 197169031 197169031 + Silent SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_194314.2 -1 validated p.S191 0.989 140 0% 146 13% 0 - - - - NULL DENND1B 163486 genome.wustl.edu 37 1 197509180 197509180 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001142795.1 -1 validated p.T457A 0.113 418 0% 399 27.1% 2 50% benign(0.002) tolerated(0.9) - NULL DENND1B 163486 genome.wustl.edu 37 1 197616218 197616218 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_144977.4 -1 validated p.E158D 1.000 217 0% 281 43.8% 1 0% possibly_damaging(0.812) tolerated(0.55) neutral(0.312) HMMPfam_DENN,HMMSmart_SM00799 LHX9 56956 genome.wustl.edu 37 1 197898252 197898252 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020204.2 +1 reviewed p.L353I 1.000 70 0% 104 32.7% 0 - possibly_damaging(0.645) tolerated(0.15) neutral(0.467) NULL NEK7 140609 genome.wustl.edu 37 1 198262081 198262081 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_133494.2 +1 validated p.T199M 1.000 463 0% 517 43.1% 3 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase PTPRC 5788 genome.wustl.edu 37 1 198719713 198719713 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002838.3 +1 reviewed p.V1053 0.975 185 0% 267 46.8% 4 0% benign(0.301) tolerated(0.26) neutral(0.127) HMMPfam_Y_phosphatase,HMMSmart_SM00194,superfamily_(Phosphotyrosine protein) phosphatases II NR5A2 2494 genome.wustl.edu 37 1 200017938 200017938 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_205860.1 +1 validated p.E368* 1.000 144 0% 144 43.1% 0 - - - - HMMPfam_Hormone_recep,HMMSmart_SM00430,superfamily_Nuclear receptor ligand-binding domain DDX59 83479 genome.wustl.edu 37 1 200635745 200635745 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001031725.4 -1 validated p.V42I 0.000 247 0% 311 43.1% 15 40% benign(0.009) tolerated(0.37) neutral(0.019) NULL CAMSAP2 23271 genome.wustl.edu 37 1 200801964 200801964 + Silent SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_203459.1 +1 validated p.S306 0.883 216 0% 323 39.3% 5 60% - - - superfamily_Calponin-homology domain CH-domain KIF21B 23046 genome.wustl.edu 37 1 200967614 200967614 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017596.2 -1 provisional p.R659W 1.000 72 0% 116 23.3% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_WD40_like CACNA1S 779 genome.wustl.edu 37 1 201016310 201016310 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000069.2 -1 reviewed p.R1534Q 1.000 187 0% 254 47.6% 0 - probably_damaging(1) deleterious(0.05) deleterious(0.845) HMMPfam_Ca_chan_IQ CACNA1S 779 genome.wustl.edu 37 1 201038632 201038632 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000069.2 -1 reviewed p.D820Y 1.000 76 0% 84 52.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF81324 CACNA1S 779 genome.wustl.edu 37 1 201052360 201052360 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000069.2 -1 reviewed p.I441 0.435 98 0% 94 41.5% 0 - - - - superfamily_SSF81324 TMEM9 252839 genome.wustl.edu 37 1 201120888 201120888 + Splice_Site SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016456.3 -1 validated e2+1 1.000 170 0% 195 47.7% 0 - - - - - LAD1 3898 genome.wustl.edu 37 1 201352333 201352333 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005558.3 -1 reviewed p.E419* 0.351 69 0% 60 56.7% 63 4.7% - - - NULL NAV1 89796 genome.wustl.edu 37 1 201618225 201618225 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020443.4 +1 reviewed p.E143 1.000 11 0% 41 19.5% 1 0% - - - NULL NAV1 89796 genome.wustl.edu 37 1 201687687 201687687 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020443.4 +1 reviewed p.A344T 0.780 22 0% 33 42.4% 2 0% benign(0.01) tolerated(0.17) neutral(0.059) NULL NAV1 89796 genome.wustl.edu 37 1 201759832 201759832 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020443.4 +1 reviewed p.R1087C 1.000 258 0% 400 46% 3 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL NAV1 89796 genome.wustl.edu 37 1 201780809 201780809 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020443.4 +1 reviewed p.L1623I 1.000 333 0% 433 42.5% 2 0% benign(0) tolerated(1) - HMMSmart_AAA,superfamily_SSF52540 NAV1 89796 genome.wustl.edu 37 1 201786394 201786394 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020443.4 +1 reviewed p.S1837Y 1.000 122 0% 136 39% 6 100% possibly_damaging(0.609) tolerated(0.06) deleterious(0.533) NULL IPO9 55705 genome.wustl.edu 37 1 201826283 201826283 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018085.4 +1 validated p.F394L 0.998 237 0% 314 26.1% 8 25% possibly_damaging(0.676) tolerated(0.21) neutral(0.284) superfamily_ARM repeat KDM5B 10765 genome.wustl.edu 37 1 202698951 202698951 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006618.3 -1 validated p.R1461C 0.740 330 0% 437 39.6% 93 38.7% possibly_damaging(0.804) deleterious(0) deleterious(0.747) NULL KDM5B 10765 genome.wustl.edu 37 1 202705347 202705347 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006618.3 -1 validated p.L1086 0.640 180 0% 233 28.3% 14 21.4% - - - HMMPfam_PLU-1 CYB5R1 51706 genome.wustl.edu 37 1 202933798 202933798 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016243.2 -1 validated p.K167N 1.000 364 0% 480 26.5% 17 17.6% benign(0.226) tolerated(0.06) neutral(0.345) superfamily_Ferredoxin reductase-like C-terminal NADP-linked domain PPFIA4 8497 genome.wustl.edu 37 1 203044869 203044869 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015053.1 +1 validated p.K680N 1.000 3 0.000 14 0.357 0 - benign(0) tolerated(0.1) neutral(0.286) NULL FMOD 2331 genome.wustl.edu 37 1 203316618 203316618 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002023.3 -1 reviewed p.D261N 0.974 89 0% 162 24.7% 25 8% benign(0.045) tolerated(0.37) neutral(0.021) superfamily_SSF52058 LAX1 54900 genome.wustl.edu 37 1 203743062 203743062 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017773.3 +1 validated p.Y150 0.000 67 0% 111 24.3% 2 0% - - - NULL ZC3H11A 9877 genome.wustl.edu 37 1 203797493 203797493 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014827.4 +1 validated p.A81T 1.000 250 0% 294 42.9% 62 35.4% benign(0.02) deleterious(0.02) neutral(0.384) HMMSmart_ZnF_C3H1 MFSD4 148808 genome.wustl.edu 37 1 205566951 205566951 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_181644.4 +1 validated p.E447D 1.000 601 0.3% 701 43.1% 12 33.3% benign(0.273) tolerated(0.15) neutral(0.270) HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter SLC45A3 85414 genome.wustl.edu 37 1 205632076 205632076 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_033102.2 -1 validated p.S281 1.000 18 0% 27 44.4% 2 50% - - - superfamily_MFS general substrate transporter CTSE 1510 genome.wustl.edu 37 1 206319142 206319142 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001910.2 +1 reviewed p.Q89H 1.000 249 0% 290 45.2% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Asp,superfamily_Pept_Aspartic RASSF5 83593 genome.wustl.edu 37 1 206760287 206760287 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_182663.2 +1 reviewed p.E412* 1.000 210 0% 214 46.3% 2 0% - - - NULL DYRK3 8444 genome.wustl.edu 37 1 206820831 206820831 + Silent SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003582.2 +1 reviewed p.K96 0.200 143 0% 218 23.4% 1 0% - - - NULL DYRK3 8444 genome.wustl.edu 37 1 206821546 206821546 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003582.2 +1 reviewed p.D335N 1.000 112 0% 117 21.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase DYRK3 8444 genome.wustl.edu 37 1 206821558 206821558 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003582.2 +1 reviewed p.E339* 1.000 106 0% 118 54.2% 0 - - - - HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase DYRK3 8444 genome.wustl.edu 37 1 206821626 206821626 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003582.2 +1 reviewed p.F361 0.482 82 0% 98 38.8% 1 0% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase DYRK3 8444 genome.wustl.edu 37 1 206821892 206821892 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003582.2 +1 reviewed p.R450H 1.000 51 0% 64 37.5% 4 25% probably_damaging(0.969) deleterious(0.01) deleterious(0.817) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase IL10 3586 genome.wustl.edu 37 1 206944303 206944303 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000572.2 -1 reviewed p.V109 1.000 156 0% 286 43.7% 1 0% - - - superfamily_4-helical cytokines,HMMPfam_IL10,HMMSmart_SM00188 FAIM3 9214 genome.wustl.edu 37 1 207087293 207087293 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001142472.1 -1 validated p.V62I 0.998 75 0% 162 45.7% 1 0% possibly_damaging(0.824) tolerated(0.43) neutral(0.326) HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin FCAMR 83953 genome.wustl.edu 37 1 207134251 207134251 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000324852 -1 known p.E324* 0.005 220 0% 303 40.3% 0 - - - - NULL YOD1 55432 genome.wustl.edu 37 1 207222905 207222905 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018566.3 -1 validated p.V169 0.753 178 0% 202 49% 5 60% - - - HMMPfam_OTU,superfamily_Cysteine proteinases PFKFB2 5208 genome.wustl.edu 37 1 207245617 207245617 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006212.2 +1 reviewed p.S473 1.000 97 0% 153 36.6% 3 0% - - - NULL CR2 1380 genome.wustl.edu 37 1 207658858 207658858 + Nonsense_Mutation SNP C C T rs185689791 by1000genomes TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001006658.2 +1 reviewed p.R1080* 0.014 92 0% 131 42% 0 - - - - NULL CR1 1378 genome.wustl.edu 37 1 207753757 207753757 + Silent SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000651.4 +1 reviewed p.C1703 0.999 160 0% 192 40.1% 0 - - - - HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain PLXNA2 5362 genome.wustl.edu 37 1 208315711 208315711 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_025179.3 -1 reviewed p.I490T 0.996 59 0% 56 42.9% 12 41.6% benign(0) tolerated(0.21) neutral(0.044) HMMPfam_Sema,HMMSmart_SM00630,superfamily_Sema domain DIEXF 27042 genome.wustl.edu 37 1 210024637 210024637 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014388.5 +1 validated p.A706T 0.994 157 0% 217 39.6% 14 28.5% benign(0.106) tolerated(0.28) neutral(0.040) HMMPfam_DUF1253 SYT14 255928 genome.wustl.edu 37 1 210329130 210329130 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_153262.2 +1 validated p.S410Y 1.000 276 0.4% 330 38.5% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL KCNH1 3756 genome.wustl.edu 37 1 210857239 210857239 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_172362.2 -1 reviewed p.A785V 1.000 45 0% 53 43.4% 0 - benign(0.078) tolerated(0.14) neutral(0.255) NULL KCNH1 3756 genome.wustl.edu 37 1 211307231 211307231 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_172362.2 -1 reviewed p.E19D 1.000 79 0% 111 38.7% 0 - benign(0.259) tolerated(0.45) neutral(0.039) NULL TRAF5 7188 genome.wustl.edu 37 1 211542866 211542866 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001033910.2 +1 reviewed p.L288F 0.998 223 0% 272 43% 1 0% benign(0) tolerated(0.81) neutral(0.001) NULL FAM71A 149647 genome.wustl.edu 37 1 212799534 212799534 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_153606.3 +1 validated p.R439C 0.002 62 0% 99 43.4% 0 - probably_damaging(0.996) deleterious(0.02) deleterious(0.845) NULL TATDN3 128387 genome.wustl.edu 37 1 212968440 212968440 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001042552.2 +1 validated p.L24V 1.000 495 0.2% 584 43.5% 12 33.3% possibly_damaging(0.729) tolerated(0.14) deleterious(0.515) HMMPfam_TatD_DNase,superfamily_Metallo-dependent hydrolases FLVCR1 28982 genome.wustl.edu 37 1 213061290 213061290 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000419102 +1 known p.S217* 1.000 642 0% 792 44.2% 3 66.6% benign(0.047) tolerated(0.31) neutral(0.030) superfamily_MFS general substrate transporter ANGEL2 90806 genome.wustl.edu 37 1 213170562 213170562 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_144567.3 -1 validated p.R473Q 0.994 277 0% 305 40% 10 40% benign(0.269) tolerated(0.28) neutral(0.060) HMMPfam_Exo_endo_phos,superfamily_DNase I-like RPS6KC1 26750 genome.wustl.edu 37 1 213277900 213277900 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_012424.3 +1 validated p.D123Y 1.000 271 0% 357 47.6% 3 33.3% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_PX,HMMSmart_SM00312,superfamily_PX domain CENPF 1063 genome.wustl.edu 37 1 214816171 214816171 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016343.3 +1 reviewed p.R1497I 0.012 86 0% 112 18.8% 8 12.5% benign(0.056) tolerated(0.06) neutral(0.326) NULL CENPF 1063 genome.wustl.edu 37 1 214818691 214818691 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016343.3 +1 reviewed p.E1926 0.016 61 0% 66 21.2% 11 27.2% - - - NULL CENPF 1063 genome.wustl.edu 37 1 214825104 214825104 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016343.3 +1 reviewed p.D2679N 0.982 209 0% 245 42% 12 25% probably_damaging(0.991) tolerated(0.95) neutral(0.444) NULL USH2A 7399 genome.wustl.edu 37 1 215916640 215916640 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_206933.2 -1 reviewed p.V3809 0.991 99 0% 178 48.3% 0 - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III USH2A 7399 genome.wustl.edu 37 1 215990376 215990376 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_206933.2 -1 reviewed p.S3178Y 0.000 109 0% 149 40.3% 0 - benign(0) deleterious(0.04) neutral(0.349) HMMSmart_SM00060,superfamily_Fibronectin type III USH2A 7399 genome.wustl.edu 37 1 216017715 216017715 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_206933.2 -1 reviewed p.K3060T 0.954 187 0% 275 26.2% 0 - benign(0.174) tolerated(0.25) neutral(0.053) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III USH2A 7399 genome.wustl.edu 37 1 216040513 216040513 + Splice_Site SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_206933.2 -1 reviewed e43-1 1.000 72 0% 142 43% 0 - - - - - USH2A 7399 genome.wustl.edu 37 1 216051103 216051103 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_206933.2 -1 reviewed p.S2893N 1.000 421 0% 484 45.7% 0 - probably_damaging(1) tolerated(0.23) deleterious(0.541) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III USH2A 7399 genome.wustl.edu 37 1 216062187 216062187 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_206933.2 -1 reviewed p.A2602T 1.000 136 0% 199 15.1% 0 - possibly_damaging(0.881) deleterious(0.05) deleterious(0.689) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III USH2A 7399 genome.wustl.edu 37 1 216074160 216074160 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_206933.2 -1 reviewed p.A2463V 1.000 167 0.6% 180 38.9% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III USH2A 7399 genome.wustl.edu 37 1 216420362 216420362 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_206933.2 -1 reviewed p.C792G 0.992 201 0% 304 42.8% 0 - probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_Laminin_EGF,HMMSmart_SM00180,PatternScan_EGF_LAM_1,superfamily_Concanavalin A-like lectins/glucanases,superfamily_EGF/Laminin ESRRG 2104 genome.wustl.edu 37 1 216850783 216850783 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001438.2 -1 validated p.S36L 1.000 111 0.9% 195 46.2% 15 53.3% benign(0.006) deleterious(0.01) neutral(0.406) NULL GPATCH2 55105 genome.wustl.edu 37 1 217793734 217793734 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018040.2 -1 provisional p.R55Q 1.000 120 0% 166 46.4% 10 50% probably_damaging(0.989) tolerated(0.1) deleterious(0.726) NULL SPATA17 128153 genome.wustl.edu 37 1 217947771 217947771 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_138796.2 +1 provisional p.K205N 0.000 116 0% 135 46.7% 6 50% benign(0.014) tolerated(0.42) neutral(0.015) NULL SLC30A10 55532 genome.wustl.edu 37 1 220100482 220100482 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000356609 -1 known p.L215P 1.000 300 0% 333 45% 0 - benign(0) tolerated(0.15) neutral(0.241) NULL EPRS 2058 genome.wustl.edu 37 1 220156644 220156644 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004446.2 -1 reviewed p.F1063V 1.000 144 0% 160 53.1% 13 61.5% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_tRNA-synt_2b,superfamily_SSF55681 IARS2 55699 genome.wustl.edu 37 1 220273983 220273983 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018060.3 +1 validated p.R181I 1.000 137 0% 164 39% 3 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_tRNA-synt_1,superfamily_Nucleotidylyl transferase MARK1 4139 genome.wustl.edu 37 1 220804392 220804392 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018650.3 +1 validated p.R309* 1.000 245 0% 350 43.4% 2 50% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase MARK1 4139 genome.wustl.edu 37 1 220805615 220805615 + Missense_Mutation SNP T T A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018650.3 +1 validated p.V361D 1.000 213 0% 250 44.8% 1 0% possibly_damaging(0.541) deleterious(0) deleterious(0.628) HMMPfam_UBA,HMMSmart_SM00165 MARK1 4139 genome.wustl.edu 37 1 220808827 220808827 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018650.3 +1 validated p.R411I 1.000 182 0% 244 47.1% 1 100% probably_damaging(0.953) deleterious(0.04) deleterious(0.746) NULL HHIPL2 79802 genome.wustl.edu 37 1 222697034 222697034 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024746.3 -1 validated p.R603Q 1.000 183 0% 247 46.2% 1 100% probably_damaging(1) deleterious(0.03) deleterious(0.865) superfamily_Quino_gluc_DH HHIPL2 79802 genome.wustl.edu 37 1 222716939 222716939 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024746.3 -1 validated p.R305Q 0.999 111 0% 118 89% 0 - probably_damaging(1) tolerated(0.17) deleterious(0.559) superfamily_Quino_gluc_DH MIA3 375056 genome.wustl.edu 37 1 222801141 222801141 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_198551.2 +1 validated p.F193 0.032 113 0.9% 103 38.8% 1 0% - - - NULL MIA3 375056 genome.wustl.edu 37 1 222801298 222801298 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_198551.2 +1 validated p.N246D 0.996 116 0% 140 15.7% 3 0% possibly_damaging(0.647) deleterious(0.01) deleterious(0.633) NULL MIA3 375056 genome.wustl.edu 37 1 222803584 222803584 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_198551.2 +1 validated p.E1008K 0.057 113 0% 143 16.1% 7 28.5% possibly_damaging(0.907) tolerated(0.09) deleterious(0.657) NULL MIA3 375056 genome.wustl.edu 37 1 222833086 222833086 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_198551.2 +1 validated p.R1606H 1.000 298 0.3% 328 44.2% 13 46.1% probably_damaging(0.998) deleterious(0.02) deleterious(0.857) NULL C1orf65 164127 genome.wustl.edu 37 1 223567258 223567258 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152610.2 +1 validated p.P147 0.708 9 0.000 12 0.583 0 - - - - NULL TP53BP2 7159 genome.wustl.edu 37 1 223989907 223989907 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001031685.2 -1 reviewed p.D379G 0.998 98 0% 134 43.3% 4 25% possibly_damaging(0.951) tolerated(0.13) deleterious(0.647) NULL TP53BP2 7159 genome.wustl.edu 37 1 224002031 224002031 + Missense_Mutation SNP C C T rs180972416 by1000genomes TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001031685.2 -1 reviewed p.R67Q 0.977 127 0% 146 11.6% 11 0% probably_damaging(0.998) tolerated(0.13) deleterious(0.727) NULL CNIH3 149111 genome.wustl.edu 37 1 224804925 224804925 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152495.1 +1 provisional p.C17R 1.000 294 0% 357 21.3% 0 - benign(0.029) tolerated(0.2) neutral(0.051) HMMPfam_Cornichon DNAH14 127602 genome.wustl.edu 37 1 225428442 225428442 + Silent SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001373.1 +1 validated p.S2200 0.000 284 0% 335 46.9% 0 - - - - NULL DNAH14 127602 genome.wustl.edu 37 1 225521159 225521159 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001373.1 +1 validated p.S3251Y 0.985 187 0% 252 48.8% 0 - possibly_damaging(0.852) deleterious(0) deleterious(0.772) NULL DNAH14 127602 genome.wustl.edu 37 1 225586269 225586269 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000428003 +1 known p.R115* 0.234 313 0% 396 42.7% 1 0% - - - HMMPfam_Dynein_heavy TMEM63A 9725 genome.wustl.edu 37 1 226062033 226062033 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014698.2 -1 validated p.R74I 0.997 114 0% 164 43.9% 38 57.8% benign(0.062) tolerated(0.47) neutral(0.015) NULL C1orf55 163859 genome.wustl.edu 37 1 226182983 226182983 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000366817 -1 known p.F23S 0.008 282 0% 368 40.2% 12 41.6% benign(0.099) - - NULL MIXL1 83881 genome.wustl.edu 37 1 226413318 226413318 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_031944.1 +1 provisional p.T168 0.000 111 0% 142 45.1% 0 - - - - NULL PSEN2 5664 genome.wustl.edu 37 1 227075812 227075812 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000447.2 +1 reviewed p.I173 1.000 360 0% 414 45.2% 71 38% - - - HMMPfam_Presenilin,HMMSmart_SM00730 CDC42BPA 8476 genome.wustl.edu 37 1 227203857 227203857 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003607.3 -1 reviewed p.S1559Y 1.000 490 0% 624 12.8% 6 16.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_PBD PRSS38 339501 genome.wustl.edu 37 1 228005171 228005171 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_183062.2 +1 validated p.V191 0.001 121 0% 158 40.5% 0 - - - - HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys C1orf35 79169 genome.wustl.edu 37 1 228288868 228288868 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024319.2 -1 provisional p.P252 0.000 125 0% 174 39.1% 55 61.8% - - - NULL OBSCN 84033 genome.wustl.edu 37 1 228402664 228402664 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001098623.1 +1 reviewed p.E565K 0.663 82 0% 96 40.6% 0 - possibly_damaging(0.807) - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III OBSCN 84033 genome.wustl.edu 37 1 228529188 228529188 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000441106 +1 known p.R586* 0.009 66 0% 84 39.3% 10 40% - - - HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like URB2 9816 genome.wustl.edu 37 1 229771368 229771368 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014777.2 +1 provisional p.K336N 0.021 29 0% 42 61.9% 4 75% benign(0.072) tolerated(0.48) neutral(0.015) NULL COG2 22796 genome.wustl.edu 37 1 230795218 230795218 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_007357.2 +1 reviewed p.F27 0.995 109 0% 150 52.7% 9 55.5% - - - HMMPfam_COG2 CAPN9 10753 genome.wustl.edu 37 1 230907779 230907779 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006615.2 +1 reviewed p.R270I 0.744 98 0% 116 48.3% 5 60% benign(0.074) tolerated(0.05) neutral(0.350) HMMPfam_Peptidase_C2,HMMSmart_SM00230,superfamily_Cysteine proteinases C1orf198 84886 genome.wustl.edu 37 1 230979246 230979246 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032800.2 -1 validated p.E261K 0.167 72 0% 84 45.2% 372 38.1% probably_damaging(0.995) tolerated(0.1) deleterious(0.744) NULL C1orf198 84886 genome.wustl.edu 37 1 230979496 230979496 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032800.2 -1 validated p.D177 0.005 50 0% 54 48.1% 133 48.8% - - - NULL ARV1 64801 genome.wustl.edu 37 1 231131683 231131683 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_022786.1 +1 provisional p.K209R 0.020 156 0% 232 44.8% 23 47.8% benign(0.001) tolerated(1) - HMMPfam_Arv1 TRIM67 440730 genome.wustl.edu 37 1 231344842 231344842 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001004342.3 +1 validated p.V657M 1.000 44 0% 91 52.7% 0 - possibly_damaging(0.935) deleterious(0) deleterious(0.825) HMMPfam_SPRY,superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00449 C1orf131 128061 genome.wustl.edu 37 1 231362496 231362496 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152379.2 -1 validated p.E228* 0.992 387 0% 490 41.4% 1 0% - - - NULL GNPAT 8443 genome.wustl.edu 37 1 231401139 231401139 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014236.3 +1 reviewed p.F223L 1.000 374 0% 429 29.1% 7 14.2% possibly_damaging(0.924) tolerated(0.19) neutral(0.422) HMMPfam_Acyltransferase,HMMSmart_PlsC,superfamily_SSF69593 GNPAT 8443 genome.wustl.edu 37 1 231406610 231406610 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014236.3 +1 reviewed p.S462 0.022 167 0% 195 48.2% 44 45.4% - - - NULL DISC1 27185 genome.wustl.edu 37 1 231830415 231830415 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018662.2 +1 reviewed p.S304Y 0.000 27 0% 37 27% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL SIPA1L2 57568 genome.wustl.edu 37 1 232575083 232575083 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020808.3 -1 validated p.D1268N 0.999 48 0% 87 46% 44 45.4% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL SIPA1L2 57568 genome.wustl.edu 37 1 232601117 232601117 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020808.3 -1 validated p.P763 0.703 54 0% 54 35.2% 11 27.2% - - - HMMPfam_Rap_GAP,superfamily_Rap/Ran-GAP (Pfam 02145) SIPA1L2 57568 genome.wustl.edu 37 1 232649900 232649900 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020808.3 -1 validated p.D396N 1.000 102 0% 120 42.5% 4 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL KIAA1383 54627 genome.wustl.edu 37 1 232942295 232942295 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_019090.2 +1 validated p.V509A 0.000 134 0% 207 48.3% 5 100% possibly_damaging(0.459) tolerated(0.51) neutral(0.160) NULL PCNXL2 80003 genome.wustl.edu 37 1 233353891 233353891 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014801.3 -1 provisional p.L848 0.997 110 0% 150 42.7% 1 100% - - - NULL TARBP1 6894 genome.wustl.edu 37 1 234582703 234582703 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005646.3 -1 reviewed p.E660D 1.000 198 0% 237 40.5% 6 50% benign(0.028) tolerated(0.38) neutral(0.019) NULL ARID4B 51742 genome.wustl.edu 37 1 235357358 235357358 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016374.5 -1 reviewed p.E699* 1.000 259 0% 314 38.2% 0 - - - - NULL TBCE 6905 genome.wustl.edu 37 1 235599906 235599906 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001079515.1 +1 reviewed p.D316N 0.995 251 0% 336 43.8% 9 33.3% benign(0.02) tolerated(0.36) neutral(0.021) superfamily_SSF52047 LYST 1130 genome.wustl.edu 37 1 235884202 235884202 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000081.2 -1 reviewed p.R3107C 1.000 125 0% 193 16.6% 4 25% probably_damaging(1) - - superfamily_BEACH domain,superfamily_PH domain-like LYST 1130 genome.wustl.edu 37 1 235891377 235891377 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000081.2 -1 reviewed p.S3054L 1.000 232 0% 271 44.6% 3 66.6% possibly_damaging(0.818) - - superfamily_PH domain-like HEATR1 55127 genome.wustl.edu 37 1 236757352 236757352 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018072.4 -1 validated p.K385Q 0.014 431 0% 593 42.7% 3 33.3% benign(0.001) tolerated(0.49) neutral(0.011) NULL HEATR1 55127 genome.wustl.edu 37 1 236766530 236766530 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018072.4 -1 validated p.F97V 1.000 227 0% 290 50.3% 10 30% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL RYR2 6262 genome.wustl.edu 37 1 237754056 237754056 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001035.2 +1 reviewed p.I1308 0.113 187 0% 248 43.5% 0 - - - - NULL FMN2 56776 genome.wustl.edu 37 1 240601399 240601399 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020066.4 +1 validated p.K1650T 1.000 213 0% 272 34.9% 0 - probably_damaging(0.997) tolerated(0.13) deleterious(0.719) HMMSmart_FH2,HMMPfam_FH2,superfamily_FH2_actin_bd FMN2 56776 genome.wustl.edu 37 1 240601497 240601497 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020066.4 +1 validated p.L1683I 1.000 180 0% 200 29% 0 - benign(0.001) tolerated(1) - HMMSmart_FH2,superfamily_FH2_actin_bd RGS7 6000 genome.wustl.edu 37 1 240966279 240966279 + Silent SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002924.4 -1 validated p.K428 1.000 322 0% 365 47.1% 0 - - - - HMMPfam_RGS,HMMSmart_RGS,superfamily_Regulat_G_prot_signal_superfam RGS7 6000 genome.wustl.edu 37 1 241261993 241261993 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002924.4 -1 validated p.L50I 1.000 285 0% 309 46% 0 - benign(0.118) tolerated(0.23) neutral(0.051) HMMPfam_DEP,HMMSmart_DEP,superfamily_SSF46785 KMO 8564 genome.wustl.edu 37 1 241755301 241755301 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003679.3 +1 validated p.S436I 0.106 167 0% 248 47.2% 22 31.8% benign(0.103) tolerated(0.13) neutral(0.261) NULL WDR64 128025 genome.wustl.edu 37 1 241959625 241959625 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_144625.4 +1 validated p.D592N 0.091 185 0% 243 39.9% 0 - probably_damaging(0.959) deleterious(0.03) deleterious(0.767) NULL EXO1 9156 genome.wustl.edu 37 1 242024746 242024746 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006027.4 +1 reviewed p.G328V 1.000 228 0% 218 40.8% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL EXO1 9156 genome.wustl.edu 37 1 242042577 242042577 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006027.4 +1 reviewed p.E681* 0.008 79 1.3% 75 36% 4 25% - - - NULL PLD5 200150 genome.wustl.edu 37 1 242264021 242264021 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152666.1 -1 provisional p.P343T 0.991 412 0% 490 27.1% 5 20% benign(0.133) tolerated(0.29) neutral(0.040) HMMPfam_PLDc,HMMSmart_PLDc,superfamily_SSF56024 CEP170 9859 genome.wustl.edu 37 1 243349608 243349608 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014812.2 -1 reviewed p.K409Q 1.000 365 0% 503 44.7% 5 60% probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL AKT3 10000 genome.wustl.edu 37 1 243727145 243727145 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005465.3 -1 reviewed p.E275D 1.000 307 0% 389 45.8% 1 0% probably_damaging(0.98) deleterious(0) deleterious(0.869) HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase ADSS 159 genome.wustl.edu 37 1 244614960 244614960 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001126.2 -1 reviewed p.A54T 1.000 9 0.000 29 0.276 65 41.5% possibly_damaging(0.689) tolerated(0.35) neutral(0.267) HMMPfam_Adenylsucc_synt,HMMSmart_SM00788,superfamily_P-loop containing nucleoside triphosphate hydrolases HNRNPU-AS1 284702 genome.wustl.edu 37 1 245006276 245006276 + RNA SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NR_026778.1 -1 predicted NULL 0.000 38 0% 43 53.5% 0 - - - - - HNRNPU 3192 genome.wustl.edu 37 1 245018831 245018831 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_031844.2 -1 reviewed p.I749 0.995 131 0.8% 159 56% 908 37.3% - - - NULL KIF26B 55083 genome.wustl.edu 37 1 245530522 245530522 + Silent SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018012.3 +1 provisional p.P284 0.232 62 0% 55 49.1% 5 40% - - - NULL SCCPDH 51097 genome.wustl.edu 37 1 246922348 246922348 + Silent SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016002.2 +1 validated p.S236 0.846 515 0% 685 44.5% 38 63.1% - - - HMMPfam_Saccharop_dh AHCTF1 25909 genome.wustl.edu 37 1 247048970 247048970 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015446.4 -1 validated p.L829I 1.000 157 0% 220 35% 1 100% probably_damaging(0.991) tolerated(0.26) deleterious(0.478) NULL ZNF695 57116 genome.wustl.edu 37 1 247150870 247150870 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020394.3 -1 validated p.R316I 0.996 93 0% 112 44.6% 0 - benign(0.167) tolerated(0.32) neutral(0.039) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF695 57116 genome.wustl.edu 37 1 247151146 247151146 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020394.3 -1 validated p.C224Y 0.000 88 0% 119 47.9% 0 - benign(0) tolerated(1) - HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers OR2W5 441932 genome.wustl.edu 37 1 247654839 247654839 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001004698.2 +1 validated p.R137H 0.142 52 0% 72 11.1% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR14K1 343170 genome.wustl.edu 37 1 247902808 247902808 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000283225 +1 known p.A298T 0.004 171 0% 244 50.4% 0 - benign(0.036) tolerated(0.05) neutral(0.347) superfamily_SSF81321 OR14A16 284532 genome.wustl.edu 37 1 247978950 247978950 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001001966.1 -1 provisional p.L28I 0.000 146 0% 161 49.7% 0 - probably_damaging(0.989) deleterious(0.02) deleterious(0.823) superfamily_SSF81321 TRIM58 25893 genome.wustl.edu 37 1 248023955 248023955 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015431.3 +1 validated p.E153* 0.743 174 0% 166 37.3% 0 - - - - NULL OR2L8 391190 genome.wustl.edu 37 1 248112668 248112668 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001001963.1 +1 provisional p.S170Y 0.023 267 0.4% 380 45.3% 0 - possibly_damaging(0.864) deleterious(0) deleterious(0.779) HMMPfam_7tm_1,superfamily_SSF81321 OR2M2 391194 genome.wustl.edu 37 1 248343836 248343836 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001004688.1 +1 provisional p.S183 0.000 423 0% 483 46.2% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR2M7 391196 genome.wustl.edu 37 1 248487540 248487540 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001004691.1 -1 provisional p.E111K 0.001 419 0% 532 28.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 PGBD2 267002 genome.wustl.edu 37 1 249212425 249212425 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_170725.2 +1 validated p.D548N 0.688 87 0% 111 39.6% 36 38.8% possibly_damaging(0.798) deleterious(0) deleterious(0.745) NULL SH3YL1 26751 genome.wustl.edu 37 2 231054 231054 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015677.2 -1 validated p.R128K 0.070 330 0% 396 42.9% 25 52% benign(0) tolerated(0.49) neutral(0.011) NULL TPO 7173 genome.wustl.edu 37 2 1488484 1488484 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000547.5 +1 reviewed p.F485L 0.997 45 0% 46 26.1% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_An_peroxidase,superfamily_Heme-dependent peroxidases TPO 7173 genome.wustl.edu 37 2 1499887 1499887 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000446278 +1 known p.S186L 0.000 58 0% 86 38.4% 0 - - - - superfamily_Heme-dependent peroxidases PXDN 7837 genome.wustl.edu 37 2 1642656 1642656 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_012293.1 -1 validated p.L1390M 0.198 230 0% 282 42.9% 13 0% benign(0.186) tolerated(0.1) neutral(0.304) NULL PXDN 7837 genome.wustl.edu 37 2 1653238 1653238 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_012293.1 -1 validated p.E772K 1.000 47 0% 81 48.1% 32 0% possibly_damaging(0.522) deleterious(0.01) deleterious(0.582) HMMPfam_An_peroxidase,superfamily_Heme-dependent peroxidases MYT1L 23040 genome.wustl.edu 37 2 1891378 1891378 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015025.2 -1 validated p.E840* 1.000 168 0% 245 43.7% 0 - - - - HMMPfam_MYT1,PatternScan_EF_HAND_1 MYT1L 23040 genome.wustl.edu 37 2 1896007 1896007 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015025.2 -1 validated p.Y693 0.991 15 0% 36 63.9% 0 - - - - HMMPfam_MYT1 KIDINS220 57498 genome.wustl.edu 37 2 8873636 8873636 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020738.2 -1 validated p.E1331K 1.000 99 0% 145 30.3% 26 23% probably_damaging(0.983) deleterious(0) deleterious(0.873) NULL KIDINS220 57498 genome.wustl.edu 37 2 8873637 8873637 + Silent SNP G G A rs193191007 by1000genomes TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020738.2 -1 validated p.F1330 0.984 99 0% 145 42.1% 26 53.8% - - - NULL MBOAT2 129642 genome.wustl.edu 37 2 9098719 9098719 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_138799.2 -1 validated p.R43Q 1.000 184 0% 168 39.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL TAF1B 9014 genome.wustl.edu 37 2 10059908 10059908 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005680.2 +1 reviewed p.K508N 1.000 174 0% 173 46.2% 8 50% possibly_damaging(0.537) tolerated(0.19) neutral(0.231) NULL GRHL1 29841 genome.wustl.edu 37 2 10105499 10105499 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_198182.2 +1 reviewed p.D178N 1.000 253 0% 404 46.8% 17 41.1% possibly_damaging(0.535) deleterious(0.02) deleterious(0.564) HMMPfam_CP2 ATP6V1C2 245973 genome.wustl.edu 37 2 10863099 10863099 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001039362.1 +1 reviewed p.F42V 1.000 192 0% 216 43.5% 28 57.1% benign(0.001) deleterious(0) neutral(0.445) HMMPfam_V-ATPase_C C2orf50 130813 genome.wustl.edu 37 2 11284095 11284095 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_182500.2 +1 validated p.S116L 0.990 64 0% 94 41.5% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ROCK2 9475 genome.wustl.edu 37 2 11332799 11332799 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004850.3 -1 reviewed p.E1243* 1.000 231 0% 288 47.6% 0 - - - - HMMSmart_SM00233,superfamily_PH domain-like GREB1 9687 genome.wustl.edu 37 2 11735397 11735397 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014668.3 +1 reviewed p.L573I 1.000 113 0% 136 47.1% 15 73.3% probably_damaging(0.996) deleterious(0.03) deleterious(0.826) NULL GREB1 9687 genome.wustl.edu 37 2 11761033 11761033 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014668.3 +1 reviewed p.I1349 0.847 217 0% 264 43.9% 37 43.2% - - - NULL GREB1 9687 genome.wustl.edu 37 2 11772132 11772132 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014668.3 +1 reviewed p.H1570R 0.998 142 0% 190 15.8% 63 12.6% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL LPIN1 23175 genome.wustl.edu 37 2 11911551 11911551 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_145693.1 +1 reviewed p.S114 0.000 134 0% 165 52.7% 4 50% - - - HMMPfam_Lipin_N LPIN1 23175 genome.wustl.edu 37 2 11922392 11922392 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_145693.1 +1 reviewed p.S305R 0.002 141 0% 152 42.8% 1 0% benign(0.022) tolerated(0.44) neutral(0.014) NULL NBAS 51594 genome.wustl.edu 37 2 15326950 15326950 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000442506 -1 known p.R1257Q 0.000 361 0% 442 38.7% 52 40.3% - - - PatternScan_RIBOSOMAL_S14 RAD51AP2 729475 genome.wustl.edu 37 2 17695303 17695303 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001099218.2 -1 provisional p.E1102* 0.882 201 0% 215 38.6% 0 - - - - NULL RAD51AP2 729475 genome.wustl.edu 37 2 17697896 17697896 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001099218.2 -1 provisional p.R596I 0.000 40 0% 51 47.1% 0 - possibly_damaging(0.67) tolerated(0.42) neutral(0.252) NULL SMC6 79677 genome.wustl.edu 37 2 17898414 17898414 + Silent SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001142286.1 -1 validated p.Y374 0.993 451 0% 515 10.7% 1 0% - - - HMMPfam_SMC_N,superfamily_P-loop containing nucleoside triphosphate hydrolases GEN1 348654 genome.wustl.edu 37 2 17962734 17962734 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001130009.1 +1 validated p.T752N 0.149 106 0% 133 40.6% 1 0% probably_damaging(0.997) deleterious(0.03) deleterious(0.831) NULL KCNS3 3790 genome.wustl.edu 37 2 18113171 18113171 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002252.3 +1 reviewed p.R299Q 1.000 75 0% 120 39.2% 2 50% possibly_damaging(0.885) deleterious(0) deleterious(0.790) HMMPfam_Ion_trans,superfamily_SSF81324 NT5C1B 93034 genome.wustl.edu 37 2 18745214 18745214 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001002006.1 -1 validated p.E561K 1.000 113 0% 161 46% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_5-nucleotidase TTC32 130502 genome.wustl.edu 37 2 20101548 20101548 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001008237.1 -1 provisional p.E23A 0.024 155 0% 227 41.9% 7 57.1% unknown(0) deleterious(0) - superfamily_SSF48452 MATN3 4148 genome.wustl.edu 37 2 20196919 20196919 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002381.4 -1 reviewed p.N424H 1.000 172 0% 173 45.7% 4 0% possibly_damaging(0.743) deleterious(0.01) deleterious(0.678) HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,PatternScan_EGF_2,superfamily_EGF/Laminin MATN3 4148 genome.wustl.edu 37 2 20201812 20201812 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002381.4 -1 reviewed p.G316* 0.974 126 0% 191 49.7% 3 0% - - - HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,superfamily_EGF/Laminin LAPTM4A 9741 genome.wustl.edu 37 2 20234127 20234127 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014713.4 -1 reviewed p.R193Q 1.000 110 0% 178 49.4% 512 37.3% probably_damaging(0.976) deleterious(0) deleterious(0.863) HMMPfam_Mtp APOB 338 genome.wustl.edu 37 2 21231324 21231324 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000384.2 -1 reviewed p.F2806V 0.997 122 0% 170 43.5% 0 - probably_damaging(0.998) - - NULL APOB 338 genome.wustl.edu 37 2 21232445 21232445 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000384.2 -1 reviewed p.Y2432C 0.999 169 0% 181 39.8% 0 - probably_damaging(1) - - NULL APOB 338 genome.wustl.edu 37 2 21250912 21250912 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000384.2 -1 reviewed p.L619M 0.978 169 0% 228 46.9% 0 - probably_damaging(1) - - superfamily_Lipovitellin-phosvitin complex superhelical domain ATAD2B 54454 genome.wustl.edu 37 2 23980714 23980714 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017552.1 -1 validated p.G1218R 1.000 247 0% 299 47.2% 10 40% benign(0.142) tolerated(0.55) neutral(0.019) NULL ATAD2B 54454 genome.wustl.edu 37 2 24118785 24118785 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017552.1 -1 validated p.R91H 1.000 254 0% 365 38.1% 5 80% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL NCOA1 8648 genome.wustl.edu 37 2 24930431 24930431 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003743.4 +1 reviewed p.S698R 0.997 173 0% 177 40.1% 2 0% possibly_damaging(0.737) deleterious(0.01) deleterious(0.675) HMMPfam_SRC-1 ADCY3 109 genome.wustl.edu 37 2 25045501 25045501 + Splice_Site SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004036.3 -1 reviewed e18-2 1.000 119 0% 193 40.4% 2 50% - - - - ADCY3 109 genome.wustl.edu 37 2 25061314 25061314 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004036.3 -1 reviewed p.S511 1.000 26 0% 46 30.4% 16 6.2% - - - NULL ASXL2 55252 genome.wustl.edu 37 2 25978922 25978922 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018263.4 -1 validated p.S334* 1.000 114 0% 138 52.2% 1 0% - - - NULL CCDC164 92749 genome.wustl.edu 37 2 26654762 26654762 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_145038.2 +1 validated p.L259P 0.985 157 0% 233 46.8% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL OTOF 9381 genome.wustl.edu 37 2 26698885 26698885 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_194248.2 -1 reviewed p.R963Q 0.999 40 0% 50 20% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) AGBL5 60509 genome.wustl.edu 37 2 27277658 27277658 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_021831.5 +1 validated p.R238C 0.970 148 0% 202 37.6% 36 22.2% benign(0.002) tolerated(0.23) neutral(0.042) superfamily_Zn-dependent exopeptidases PREB 10113 genome.wustl.edu 37 2 27357164 27357164 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_013388.4 -1 reviewed p.K42N 1.000 9 0.000 15 0.333 31 54.8% probably_damaging(0.999) tolerated(0.08) deleterious(0.790) NULL TCF23 150921 genome.wustl.edu 37 2 27375564 27375564 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_175769.2 +1 reviewed p.P158 0.391 120 0% 141 48.2% 0 - - - - NULL CAD 790 genome.wustl.edu 37 2 27445793 27445793 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004341.3 +1 reviewed p.V233I 0.998 111 0% 146 46.6% 10 70% benign(0) tolerated(0.65) neutral(0.003) HMMPfam_GATase,superfamily_SSF52317 CAD 790 genome.wustl.edu 37 2 27447678 27447678 + Silent SNP G G C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004341.3 +1 reviewed p.V440 1.000 190 0% 247 21.1% 4 25% - - - HMMPfam_CPSase_L_chain,superfamily_PreATP-grasp-like CAD 790 genome.wustl.edu 37 2 27462205 27462205 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004341.3 +1 reviewed p.L1754M 1.000 48 0% 71 38% 38 50% benign(0.208) tolerated(0.22) neutral(0.062) superfamily_Metalo_hydrolase ZNF513 130557 genome.wustl.edu 37 2 27603339 27603339 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_144631.4 -1 validated p.V19M 1.000 29 0% 42 35.7% 1 100% unknown(0) deleterious(0) - NULL IFT172 26160 genome.wustl.edu 37 2 27671846 27671846 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015662.1 -1 validated p.R1455Q 0.990 102 0% 132 43.2% 51 62.7% possibly_damaging(0.582) tolerated(0.17) neutral(0.259) NULL IFT172 26160 genome.wustl.edu 37 2 27706224 27706224 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015662.1 -1 validated p.L168I 1.000 297 0% 359 43.5% 15 80% benign(0.076) tolerated(0.38) neutral(0.023) HMMSmart_SM00320,superfamily_WD40 repeat-like ZNF512 84450 genome.wustl.edu 37 2 27825393 27825393 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032434.2 +1 validated p.L245I 0.924 319 0% 354 47.2% 6 50% probably_damaging(0.998) tolerated(0.08) deleterious(0.774) NULL CCDC121 79635 genome.wustl.edu 37 2 27850164 27850164 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001142683.2 -1 validated p.R330I 0.000 201 0% 221 45.7% 0 - probably_damaging(0.982) tolerated(0.3) neutral(0.455) NULL SLC4A1AP 22950 genome.wustl.edu 37 2 27892242 27892242 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018158.2 +1 validated p.R445W 1.000 166 0.6% 237 49.4% 3 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PPP1CB 5500 genome.wustl.edu 37 2 29001835 29001835 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002709.2 +1 reviewed p.E115D 1.000 279 0.4% 292 40.8% 14 85.7% benign(0.001) deleterious(0.05) neutral(0.345) HMMPfam_Metallophos,HMMSmart_SM00156,superfamily_Metallo-dependent phosphatases SPDYA 245711 genome.wustl.edu 37 2 29045260 29045260 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001142634.1 +1 validated p.N122H 1.000 377 0% 459 45.5% 0 - probably_damaging(0.975) tolerated(0.21) neutral(0.461) NULL WDR43 23160 genome.wustl.edu 37 2 29140814 29140814 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015131.1 +1 validated p.D268N 1.000 232 0.4% 252 40.5% 5 60% benign(0.094) tolerated(0.37) neutral(0.026) superfamily_WD40_like FAM179A 165186 genome.wustl.edu 37 2 29237410 29237410 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_199280.2 +1 validated p.K343Q 0.126 53 0% 90 52.2% 1 0% possibly_damaging(0.741) deleterious(0.01) deleterious(0.677) NULL CLIP4 79745 genome.wustl.edu 37 2 29390370 29390370 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024692.4 +1 validated p.E563* 1.000 269 0% 339 40.7% 1 0% - - - superfamily_Cap-Gly domain ALK 238 genome.wustl.edu 37 2 29455216 29455216 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004304.3 -1 reviewed p.E862D 0.888 106 0% 117 41% 0 - possibly_damaging(0.445) tolerated(0.3) neutral(0.174) NULL ALK 238 genome.wustl.edu 37 2 29551310 29551310 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004304.3 -1 reviewed p.S440 1.000 48 0% 89 11.2% 0 - - - - HMMSmart_SM00192,superfamily_LDL receptor-like module LCLAT1 253558 genome.wustl.edu 37 2 30756045 30756045 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_182551.3 +1 validated p.E115* 1.000 205 0.5% 298 44% 6 16.6% - - - HMMPfam_Acyltransferase,superfamily_Glycerol-3-phosphate (1)-acyltransferase CAPN14 440854 genome.wustl.edu 37 2 31424760 31424760 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001145122.1 -1 validated p.F173L 1.000 112 0% 128 25.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Peptidase_C2,HMMSmart_SM00230,superfamily_Cysteine proteinases XDH 7498 genome.wustl.edu 37 2 31600058 31600058 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000379.3 -1 reviewed p.D430Y 1.000 274 0% 338 37.3% 3 0% benign(0.348) deleterious(0.01) deleterious(0.516) HMMPfam_CO_deh_flav_C,superfamily_CO_deh_flav_C NLRC4 58484 genome.wustl.edu 37 2 32449622 32449622 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000360906 -1 known p.E999* 0.984 220 0% 268 46.6% 0 - - - - superfamily_RNI-like BIRC6 57448 genome.wustl.edu 37 2 32641122 32641122 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016252.3 +1 reviewed p.E921D 1.000 103 0% 166 28.9% 0 - possibly_damaging(0.882) tolerated(0.15) deleterious(0.585) NULL BIRC6 57448 genome.wustl.edu 37 2 32690221 32690221 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016252.3 +1 reviewed p.R1782Q 1.000 324 0% 340 41.2% 2 0% probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL LTBP1 4052 genome.wustl.edu 37 2 33335648 33335648 + Splice_Site SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_206943.2 +1 reviewed e4-1 1.000 218 0% 248 44.4% 0 - - - - - LTBP1 4052 genome.wustl.edu 37 2 33413722 33413722 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_206943.2 +1 reviewed p.R502I 0.982 113 0% 95 45.3% 9 77.7% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL STRN 6801 genome.wustl.edu 37 2 37076610 37076610 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003162.2 -1 validated p.V778F 1.000 89 0% 120 46.7% 5 80% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 HEATR5B 54497 genome.wustl.edu 37 2 37208730 37208730 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_019024.1 -1 validated p.R2040Q 1.000 123 0.8% 135 50.4% 12 50% probably_damaging(0.997) deleterious(0.02) deleterious(0.849) NULL HEATR5B 54497 genome.wustl.edu 37 2 37208916 37208916 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_019024.1 -1 validated p.L1978S 1.000 55 0% 92 44.6% 2 50% probably_damaging(0.994) deleterious(0) deleterious(0.897) superfamily_ARM repeat CCDC75 253635 genome.wustl.edu 37 2 37315546 37315546 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_174931.2 +1 validated p.E4* 1.000 269 0% 282 37.2% 0 - - - - NULL EIF2AK2 5610 genome.wustl.edu 37 2 37334619 37334619 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001135651.1 -1 validated p.E511* 0.942 282 0% 284 40.1% 0 - - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase EIF2AK2 5610 genome.wustl.edu 37 2 37373999 37373999 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001135651.1 -1 validated p.K79N 0.000 489 0% 582 39.5% 2 100% benign(0) tolerated(1) - superfamily_dsRNA-binding domain-like EIF2AK2 5610 genome.wustl.edu 37 2 37374085 37374085 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001135651.1 -1 validated p.E51* 0.192 362 0% 464 45.9% 1 100% - - - HMMPfam_dsrm,HMMSmart_SM00358,superfamily_dsRNA-binding domain-like PRKD3 23683 genome.wustl.edu 37 2 37487482 37487482 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005813.3 -1 reviewed p.T644P 1.000 316 0% 381 48% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase QPCT 25797 genome.wustl.edu 37 2 37586917 37586917 + Silent SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_012413.3 +1 reviewed p.F154 1.000 113 0% 131 22.1% 9 0% - - - HMMPfam_Peptidase_M28,superfamily_Zn-dependent exopeptidases CDC42EP3 10602 genome.wustl.edu 37 2 37873326 37873326 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006449.3 -1 reviewed p.F135 0.146 69 0% 89 49.4% 2 0% - - - NULL FAM82A1 151393 genome.wustl.edu 37 2 38202433 38202433 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_144713.3 +1 validated p.E414* 0.913 257 0% 368 18.8% 0 - - - - NULL ARHGEF33 100271715 genome.wustl.edu 37 2 39156109 39156109 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001145451.2 +1 validated p.R46I 1.000 331 0% 357 40.9% 0 - probably_damaging(0.991) deleterious(0.01) deleterious(0.850) NULL ARHGEF33 100271715 genome.wustl.edu 37 2 39186985 39186985 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001145451.2 +1 validated p.H513Q 0.056 57 0% 82 32.9% 2 0% possibly_damaging(0.923) deleterious(0) deleterious(0.817) NULL SLC8A1 6546 genome.wustl.edu 37 2 40655938 40655938 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_021097.2 -1 validated p.L495I 1.000 81 0% 118 37.3% 0 - possibly_damaging(0.646) deleterious(0.01) deleterious(0.632) HMMPfam_Calx-beta,HMMSmart_SM00237 EML4 27436 genome.wustl.edu 37 2 42472771 42472771 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_019063.3 +1 validated p.R51H 1.000 237 0% 287 39.4% 12 58.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL EML4 27436 genome.wustl.edu 37 2 42515438 42515438 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_019063.3 +1 validated p.K398N 0.999 422 0% 532 48.1% 18 16.6% possibly_damaging(0.534) deleterious(0.02) deleterious(0.564) HMMSmart_SM00320,superfamily_WD40 repeat-like THADA 63892 genome.wustl.edu 37 2 43655273 43655273 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001083953.1 -1 validated p.L1342I 0.993 128 0% 187 17.6% 54 22.2% probably_damaging(1) tolerated(0.22) deleterious(0.542) NULL DYNC2LI1 51626 genome.wustl.edu 37 2 44023899 44023899 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016008.2 +1 validated p.R207* 1.000 359 0% 405 45.7% 9 0% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases LRPPRC 10128 genome.wustl.edu 37 2 44204165 44204165 + Silent SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_133259.3 -1 reviewed p.S206 0.999 302 0% 386 50% 38 63.1% - - - HMMPfam_PPR,superfamily_SSF48452 PREPL 9581 genome.wustl.edu 37 2 44586846 44586846 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006036.4 -1 reviewed p.Q3H 1.000 216 0% 258 45.3% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL EPAS1 2034 genome.wustl.edu 37 2 46605855 46605855 + Silent SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001430.4 +1 reviewed p.I501 0.049 204 0% 264 42% 56 26.7% - - - NULL PIGF 5281 genome.wustl.edu 37 2 46840918 46840918 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002643.3 -1 reviewed p.G79R 0.978 194 0% 250 37.2% 5 20% benign(0) tolerated(1) - HMMPfam_PIG-F SOCS5 9655 genome.wustl.edu 37 2 46986640 46986640 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014011.4 +1 reviewed p.S324L 0.996 67 0% 118 12.7% 18 5.5% benign(0.002) tolerated(0.06) neutral(0.323) NULL CALM2 805 genome.wustl.edu 37 2 47389720 47389720 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001743.4 -1 validated p.S39Y 1.000 428 0% 572 47.4% 261 36.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00054,HMMPfam_efhand,superfamily_EF-hand MSH2 4436 genome.wustl.edu 37 2 47635556 47635556 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000251.1 +1 reviewed p.Q76H 0.999 123 0% 159 47.2% 7 42.8% benign(0.259) tolerated(0.14) neutral(0.277) HMMPfam_MutS_I MSH6 2956 genome.wustl.edu 37 2 48026290 48026290 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000179.2 +1 reviewed p.D390N 0.998 200 0% 271 42.4% 16 62.5% benign(0.066) tolerated(0.13) neutral(0.257) NULL MSH6 2956 genome.wustl.edu 37 2 48027844 48027844 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000179.2 +1 reviewed p.E908* 1.000 99 0% 112 44.6% 1 0% - - - HMMSmart_SM00533,superfamily_DNA repair protein MutS domain III STON1-GTF2A1L 286749 genome.wustl.edu 37 2 48807852 48807852 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_172311.1 +1 reviewed p.F27C 0.926 147 0% 191 49.7% 1 100% possibly_damaging(0.744) deleterious(0) deleterious(0.718) NULL LHCGR 3973 genome.wustl.edu 37 2 48952834 48952834 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000233.3 -1 reviewed p.L122I 1.000 435 0% 478 24.5% 0 - possibly_damaging(0.657) deleterious(0) deleterious(0.676) superfamily_L domain-like FSHR 2492 genome.wustl.edu 37 2 49190735 49190735 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000145.3 -1 reviewed p.L409I 1.000 169 0% 252 39.3% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like FSHR 2492 genome.wustl.edu 37 2 49216155 49216155 + Missense_Mutation SNP C C A rs111883853 byCluster;byFrequency;by1000genomes TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000145.3 -1 reviewed p.R162I 1.000 298 0% 393 43.5% 0 - benign(0.014) tolerated(0.19) neutral(0.050) superfamily_L domain-like NRXN1 9378 genome.wustl.edu 37 2 50464043 50464043 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001135659.1 -1 reviewed p.R1184* 1.000 190 0% 210 39% 0 - - - - superfamily_ConA_like_lec_gl ERLEC1 27248 genome.wustl.edu 37 2 54035592 54035592 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015701.3 +1 validated p.R346C 1.000 240 0% 328 36.6% 28 46.4% possibly_damaging(0.906) tolerated(0.05) deleterious(0.705) superfamily_Mannose 6-phosphate receptor domain,HMMPfam_PRKCSH GPR75 10936 genome.wustl.edu 37 2 54081282 54081282 + Missense_Mutation SNP C C G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006794.2 -1 validated p.L204F 0.992 132 0% 189 39.2% 2 50% benign(0.293) deleterious(0.03) neutral(0.455) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like GPR75 10936 genome.wustl.edu 37 2 54081656 54081656 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006794.2 -1 validated p.D80Y 1.000 75 0% 113 34.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like PSME4 23198 genome.wustl.edu 37 2 54154547 54154547 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014614.2 -1 validated p.R526I 1.000 240 0% 341 46.3% 4 25% benign(0.025) tolerated(0.15) neutral(0.242) NULL EML6 400954 genome.wustl.edu 37 2 55040396 55040396 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001039753.2 +1 validated p.L75 0.045 176 0% 248 43.1% 0 - - - - HMMSmart_SM00320,superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase EML6 400954 genome.wustl.edu 37 2 55122110 55122110 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001039753.2 +1 validated p.R934K 1.000 274 0% 413 39.5% 0 - probably_damaging(0.988) tolerated(0.71) neutral(0.439) superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase EML6 400954 genome.wustl.edu 37 2 55130604 55130604 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001039753.2 +1 validated p.S1125Y 0.918 314 0% 399 13.3% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_WD40 repeat-like EML6 400954 genome.wustl.edu 37 2 55155458 55155458 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001039753.2 +1 validated p.H1228 0.728 101 0% 97 18.6% 0 - - - - HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 CCDC88A 55704 genome.wustl.edu 37 2 55539676 55539676 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001135597.1 -1 validated p.R1324W 1.000 399 0% 474 40.7% 3 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CCDC88A 55704 genome.wustl.edu 37 2 55562111 55562111 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001135597.1 -1 validated p.E616* 1.000 132 0% 178 41% 1 0% - - - NULL CCDC88A 55704 genome.wustl.edu 37 2 55566697 55566697 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001135597.1 -1 validated p.K474T 1.000 443 0% 541 39.7% 0 - benign(0.007) tolerated(0.42) neutral(0.014) NULL CCDC104 112942 genome.wustl.edu 37 2 55750887 55750887 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_080667.5 +1 validated p.E71* 1.000 233 0% 258 41.5% 32 15.6% - - - NULL FANCL 55120 genome.wustl.edu 37 2 58392950 58392950 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001114636.1 -1 reviewed p.F205 1.000 332 0% 433 43.2% 5 20% - - - HMMPfam_WD-3 PAPOLG 64895 genome.wustl.edu 37 2 61021874 61021874 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_022894.2 +1 reviewed p.D673 0.001 262 0% 304 19.1% 3 66.6% - - - NULL C2orf74 339804 genome.wustl.edu 37 2 61389980 61389980 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001143959.1 +1 validated p.F40 0.000 131 0.8% 217 23% 2 50% - - - NULL USP34 9736 genome.wustl.edu 37 2 61415350 61415350 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014709.3 -1 validated p.L3510F 1.000 83 0% 120 40.8% 44 22.7% probably_damaging(0.959) deleterious(0) deleterious(0.847) NULL USP34 9736 genome.wustl.edu 37 2 61492647 61492647 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014709.3 -1 validated p.R1888H 1.000 187 0% 217 42.9% 12 41.6% probably_damaging(1) - - superfamily_Cysteine proteinases USP34 9736 genome.wustl.edu 37 2 61515949 61515949 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014709.3 -1 validated p.D1538N 1.000 138 0% 172 40.1% 7 42.8% probably_damaging(0.995) - - NULL USP34 9736 genome.wustl.edu 37 2 61597701 61597701 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014709.3 -1 validated p.E364* 1.000 149 0% 177 46.3% 6 0% - - - NULL XPO1 7514 genome.wustl.edu 37 2 61709539 61709539 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003400.3 -1 reviewed p.K983T 1.000 219 0% 313 46% 49 46.9% benign(0) tolerated(0.48) neutral(0.011) HMMPfam_CRM1_C,superfamily_ARM-type_fold XPO1 7514 genome.wustl.edu 37 2 61715367 61715367 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003400.3 -1 reviewed p.R749Q 1.000 171 1.2% 224 42% 31 41.9% probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_CRM1_C,superfamily_ARM-type_fold XPO1 7514 genome.wustl.edu 37 2 61719793 61719793 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003400.3 -1 reviewed p.K492R 1.000 131 0% 155 41.3% 56 37.5% benign(0) tolerated(0.29) neutral(0.029) superfamily_ARM-type_fold FAM161A 84140 genome.wustl.edu 37 2 62067512 62067512 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032180.2 -1 validated p.E209D 0.861 389 0% 529 41.6% 1 0% possibly_damaging(0.535) tolerated(0.33) neutral(0.205) NULL EHBP1 23301 genome.wustl.edu 37 2 63272233 63272233 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015252.3 +1 reviewed p.E1175K 1.000 22 0% 33 51.5% 31 25.8% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL MDH1 4190 genome.wustl.edu 37 2 63824540 63824540 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000421012 +1 known p.S55L 0.981 88 0% 138 15.9% 140 10% unknown(0) deleterious(0.04) - NULL UGP2 7360 genome.wustl.edu 37 2 64113478 64113478 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006759.3 +1 reviewed p.G293R 1.000 135 0% 172 48.3% 49 40.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_UDPGP,superfamily_Nucleotide-diphospho-sugar transferases RAB1A 5861 genome.wustl.edu 37 2 65318185 65318185 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004161.4 -1 reviewed p.R74* 1.000 264 0% 315 41% 124 3.2% - - - HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMSmart_SM00177,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases CNRIP1 25927 genome.wustl.edu 37 2 68521069 68521069 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015463.2 -1 reviewed p.F140L 1.000 184 0% 225 40.4% 13 0% benign(0.142) tolerated(0.76) neutral(0.013) NULL ARHGAP25 9938 genome.wustl.edu 37 2 69009444 69009444 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001007231.2 +1 validated p.I114S 1.000 114 0% 183 42.1% 0 - possibly_damaging(0.583) deleterious(0) deleterious(0.645) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like ARHGAP25 9938 genome.wustl.edu 37 2 69046293 69046293 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001007231.2 +1 validated p.R347G 1.000 61 0% 78 28.2% 8 0% possibly_damaging(0.611) tolerated(0.66) neutral(0.214) HMMSmart_SM00324,superfamily_GTPase activation domain GAP BMP10 27302 genome.wustl.edu 37 2 69098352 69098352 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014482.1 -1 reviewed p.D47N 1.000 184 0% 209 44.5% 0 - possibly_damaging(0.926) deleterious(0.01) deleterious(0.780) NULL GFPT1 2673 genome.wustl.edu 37 2 69556856 69556856 + Silent SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002056.2 -1 reviewed p.E501 0.996 224 0% 249 26.1% 81 29.6% - - - superfamily_SSF53697 AAK1 22848 genome.wustl.edu 37 2 69757231 69757231 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014911.3 -1 reviewed p.L260 1.000 217 0% 249 42.6% 4 75% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase ANXA4 307 genome.wustl.edu 37 2 70015272 70015272 + Silent SNP C C T rs187492712 by1000genomes TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001153.3 +1 reviewed p.L32 0.000 92 0% 155 48.4% 191 49.7% - - - superfamily_Annexin,HMMPfam_Annexin ANXA4 307 genome.wustl.edu 37 2 70033559 70033559 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001153.3 +1 reviewed p.E79K 0.997 154 0% 231 39% 233 50.6% possibly_damaging(0.72) deleterious(0.05) deleterious(0.607) superfamily_Annexin,PatternScan_ANNEXIN,HMMPfam_Annexin,HMMSmart_ANX MXD1 4084 genome.wustl.edu 37 2 70164428 70164428 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002357.2 +1 reviewed p.R127Q 0.999 92 0% 101 51.5% 11 27.2% probably_damaging(1) tolerated(0.22) deleterious(0.542) superfamily_HLH_basic CD207 50489 genome.wustl.edu 37 2 71058271 71058271 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015717.2 -1 validated p.K299N 0.000 343 0% 430 47.4% 0 - benign(0.096) tolerated(0.1) neutral(0.293) HMMPfam_Lectin_C,HMMSmart_CLECT,superfamily_C-type_lectin_fold,PatternScan_C_TYPE_LECTIN_1 MPHOSPH10 10199 genome.wustl.edu 37 2 71360546 71360546 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005791.1 +1 reviewed p.K203T 0.969 277 0% 302 47.7% 7 14.2% benign(0.019) tolerated(0.15) neutral(0.242) HMMPfam_Mpp10 ZNF638 27332 genome.wustl.edu 37 2 71577101 71577101 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001014972.1 +1 reviewed p.S339 0.945 187 0% 232 39.2% 8 50% - - - NULL ZNF638 27332 genome.wustl.edu 37 2 71591296 71591296 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001014972.1 +1 reviewed p.R544Q 1.000 177 0% 232 36.2% 15 46.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL DYSF 8291 genome.wustl.edu 37 2 71825803 71825803 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001130987.1 +1 reviewed p.I1228 1.000 62 0% 85 36.5% 5 0% - - - HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB EXOC6B 23233 genome.wustl.edu 37 2 72707858 72707858 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015189.1 -1 validated p.T563P 1.000 165 0% 245 38.8% 2 0% possibly_damaging(0.945) deleterious(0.02) deleterious(0.772) HMMPfam_Sec15 EXOC6B 23233 genome.wustl.edu 37 2 72725638 72725638 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015189.1 -1 validated p.E428* 1.000 274 0% 355 42.5% 0 - - - - NULL RAB11FIP5 26056 genome.wustl.edu 37 2 73315682 73315682 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015470.2 -1 validated p.R355H 1.000 26 0% 17 70.6% 3 0% probably_damaging(0.999) tolerated(0.11) deleterious(0.762) NULL CCT7 10574 genome.wustl.edu 37 2 73477523 73477523 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006429.3 +1 reviewed p.R387Q 1.000 48 0% 79 53.2% 382 51% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cpn60_TCP1,superfamily_GroEL equatorial domain-like,superfamily_GroEL-intermediate domain like ALMS1 7840 genome.wustl.edu 37 2 73681183 73681183 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015120.4 +1 reviewed p.V2509A 1.000 103 1% 145 51% 2 50% possibly_damaging(0.94) deleterious(0) deleterious(0.830) NULL ALMS1 7840 genome.wustl.edu 37 2 73799932 73799932 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015120.4 +1 reviewed p.S3642Y 0.995 129 0% 188 40.4% 9 55.5% probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL C2orf78 388960 genome.wustl.edu 37 2 74042486 74042486 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001080474.1 +1 predicted p.L379R 0.001 65 0% 78 35.9% 0 - possibly_damaging(0.462) tolerated(0.17) neutral(0.210) NULL WDR54 84058 genome.wustl.edu 37 2 74650048 74650048 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032118.2 +1 provisional p.R92* 0.123 200 0% 268 44.8% 14 0% - - - superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase MOGS 7841 genome.wustl.edu 37 2 74688547 74688547 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006302.2 -1 reviewed p.N790S 1.000 50 0% 46 50% 218 44% benign(0.35) deleterious(0.05) neutral(0.456) HMMPfam_Glyco_hydro_63,superfamily_Six-hairpin glycosidases DQX1 165545 genome.wustl.edu 37 2 74745638 74745638 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_133637.2 -1 validated p.D697Y 0.031 162 0% 180 34.4% 0 - benign(0.345) deleterious(0.03) deleterious(0.473) NULL DQX1 165545 genome.wustl.edu 37 2 74746272 74746272 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_133637.2 -1 validated p.R631Q 0.114 152 0% 197 58.4% 0 - probably_damaging(0.986) tolerated(0.62) neutral(0.439) HMMPfam_DUF1605 AUP1 550 genome.wustl.edu 37 2 74753947 74753947 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_181575.3 -1 reviewed p.R405* 0.997 184 0% 279 38.7% 154 46.1% - - - NULL DNAH6 1768 genome.wustl.edu 37 2 84771451 84771451 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001370.1 +1 validated p.E253K 0.274 132 0% 125 43.2% 0 - benign(0.291) tolerated(0.25) neutral(0.127) NULL DNAH6 1768 genome.wustl.edu 37 2 84880701 84880701 + Silent SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001370.1 +1 validated p.E1779 0.080 108 0% 147 52.4% 0 - - - - HMMSmart_SM00382,HMMPfam_AAA_5,superfamily_P-loop containing nucleoside triphosphate hydrolases TGOLN2 10618 genome.wustl.edu 37 2 85553825 85553825 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006464.2 -1 validated p.E344* 0.114 83 0% 110 24.5% 25 4% - - - NULL SH2D6 284948 genome.wustl.edu 37 2 85662803 85662803 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_198482.1 +1 provisional p.T89 0.565 49 0% 67 46.3% 1 100% - - - HMMPfam_SH2,HMMSmart_SM00252,superfamily_SH2 domain IMMT 10989 genome.wustl.edu 37 2 86371482 86371482 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006839.2 -1 validated p.R729Q 1.000 233 0% 272 40.8% 65 43% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Mitofilin MRPL35 51318 genome.wustl.edu 37 2 86437651 86437651 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016622.3 +1 reviewed p.R143* 1.000 134 0% 146 45.9% 3 100% - - - HMMPfam_MRP-L35 CHMP3 51652 genome.wustl.edu 37 2 86737492 86737492 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016079.2 -1 reviewed p.E133* 1.000 155 0% 255 41.6% 54 7.4% - - - HMMPfam_Snf7 RNF103 7844 genome.wustl.edu 37 2 86847539 86847539 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005667.2 -1 reviewed p.E94K 1.000 160 1.3% 251 16.3% 16 43.7% benign(0.011) tolerated(0.32) neutral(0.025) NULL CD8A 925 genome.wustl.edu 37 2 87016860 87016860 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001768.6 -1 reviewed p.T139 0.001 5 0.000 25 0.560 7 0% - - - NULL LOC730268 730268 genome.wustl.edu 37 2 88037369 88037369 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_002342213.1 +1 model p.K649Q 1.000 605 0% 792 17.9% 7 14.2% - - - NULL FABP1 2168 genome.wustl.edu 37 2 88425856 88425856 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001443.1 -1 reviewed p.E27* 0.998 94 0% 162 25.3% 0 - - - - HMMPfam_Lipocalin,superfamily_Lipocalins C2orf51 200523 genome.wustl.edu 37 2 88828778 88828778 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152670.2 +1 validated p.Y110C 0.023 164 0% 222 43.2% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL IGKV2D-28 28883 genome.wustl.edu 37 2 89999318 89999318 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000453166 +1 known p.S40 0.996 170 0% 187 33.7% 0 - - - - HMMSmart_SM00406,HMMPfam_V-set,superfamily_Immunoglobulin TEKT4 150483 genome.wustl.edu 37 2 95542385 95542385 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_144705.2 +1 provisional p.L393 1.000 85 0% 96 40.6% 20 40% - - - HMMPfam_Tektin MRPS5 64969 genome.wustl.edu 37 2 95780832 95780832 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_031902.3 -1 reviewed p.P86T 0.981 260 0% 278 42.4% 34 61.7% benign(0.029) tolerated(0.43) neutral(0.015) NULL ZNF514 84874 genome.wustl.edu 37 2 95815475 95815475 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032788.1 -1 provisional p.R252I 1.000 178 0% 225 53.8% 1 100% possibly_damaging(0.623) deleterious(0) deleterious(0.661) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 KCNIP3 30818 genome.wustl.edu 37 2 96012842 96012842 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001034914.1 +1 reviewed p.F25 1.000 46 0% 80 40% 1 100% - - - NULL TRIM43 129868 genome.wustl.edu 37 2 96260044 96260044 + Silent SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_138800.1 +1 provisional p.Q91 0.004 230 0% 317 27.4% 3 33.3% - - - HMMPfam_zf-B_box,HMMSmart_BBOX,superfamily_SSF57850 LOC400986 400986 genome.wustl.edu 37 2 96581771 96581771 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_001717763.2 -1 model p.S521 0.000 303 0% 404 41.8% 0 - - - - NULL GPAT2 150763 genome.wustl.edu 37 2 96687988 96687988 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000335448 -1 known p.A826T 0.975 140 0% 169 43.8% 0 - - - - NULL SNRNP200 23020 genome.wustl.edu 37 2 96944017 96944017 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014014.3 -1 reviewed p.E1856 1.000 298 0% 413 41.2% 500 39.2% - - - HMMPfam_Sec63,HMMSmart_SM00611 SNRNP200 23020 genome.wustl.edu 37 2 96944603 96944603 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014014.3 -1 reviewed p.T1756I 1.000 219 0% 259 42.9% 395 46.3% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_P-loop containing nucleoside triphosphate hydrolases SNRNP200 23020 genome.wustl.edu 37 2 96953604 96953604 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014014.3 -1 reviewed p.R1121H 1.000 170 0% 201 11.9% 127 12.5% possibly_damaging(0.847) deleterious(0.03) deleterious(0.690) HMMPfam_Sec63,HMMSmart_SM00611 SNRNP200 23020 genome.wustl.edu 37 2 96958741 96958741 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014014.3 -1 reviewed p.E710A 1.000 313 0% 355 21.4% 12 41.6% possibly_damaging(0.916) deleterious(0.03) deleterious(0.732) superfamily_P-loop containing nucleoside triphosphate hydrolases FER1L5 90342 genome.wustl.edu 37 2 97312145 97312145 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001113382.1 +1 provisional p.K31N 0.968 248 0% 379 45.1% 0 - probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) FER1L5 90342 genome.wustl.edu 37 2 97365783 97365783 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001113382.1 +1 provisional p.F1659L 0.003 39 0% 54 38.9% 0 - benign(0.367) tolerated(0.69) neutral(0.119) NULL FAM178B 51252 genome.wustl.edu 37 2 97636511 97636511 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001122646.2 -1 validated p.S158P 0.000 133 0% 168 45.8% 0 - possibly_damaging(0.674) deleterious(0.02) deleterious(0.623) NULL ANKRD36 375248 genome.wustl.edu 37 2 97810406 97810406 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000461153 +1 known p.S320 0.002 151 0.7% 205 47.3% 1 100% - - - NULL ACTR1B 10120 genome.wustl.edu 37 2 98274437 98274437 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005735.3 -1 reviewed p.I298 0.035 38 0% 43 48.8% 93 43% - - - HMMPfam_Actin,HMMSmart_ACTIN,superfamily_SSF53067 TMEM131 23505 genome.wustl.edu 37 2 98428945 98428945 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015348.1 -1 validated p.R601I 1.000 311 0% 379 15.3% 4 0% probably_damaging(0.992) tolerated(0.24) deleterious(0.485) NULL TMEM131 23505 genome.wustl.edu 37 2 98525139 98525139 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015348.1 -1 validated p.S91I 1.000 291 0% 360 44.7% 10 30% benign(0.189) tolerated(0.17) neutral(0.076) NULL VWA3B 200403 genome.wustl.edu 37 2 98846533 98846533 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_144992.4 +1 provisional p.S724Y 0.012 213 0% 234 38% 1 0% unknown(0) - - NULL TSGA10 80705 genome.wustl.edu 37 2 99688247 99688247 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_025244.2 -1 validated p.I343 0.840 196 0% 250 27.6% 2 0% - - - NULL MITD1 129531 genome.wustl.edu 37 2 99787079 99787079 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_138798.1 -1 provisional p.E172* 1.000 235 0% 253 46.6% 5 0% - - - NULL EIF5B 9669 genome.wustl.edu 37 2 99999328 99999328 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015904.3 +1 reviewed p.E739* 1.000 260 0% 353 36.5% 10 0% - - - HMMPfam_GTP_EFTU,superfamily_P-loop containing nucleoside triphosphate hydrolases NPAS2 4862 genome.wustl.edu 37 2 101549440 101549440 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002518.3 +1 reviewed p.E84* 1.000 151 0% 175 38.9% 6 50% - - - HMMSmart_PAS,HMMPfam_PAS TBC1D8 11138 genome.wustl.edu 37 2 101624350 101624350 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001102426.1 -1 validated p.Q1119P 1.000 239 0% 287 54.7% 57 64.9% possibly_damaging(0.907) deleterious(0.01) deleterious(0.766) NULL MAP4K4 9448 genome.wustl.edu 37 2 102501736 102501736 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_145686.2 +1 reviewed p.F1139C 1.000 234 0% 282 39.7% 56 51.7% unknown(0) deleterious(0) - HMMPfam_CNH,HMMSmart_SM00036 TGFBRAP1 9392 genome.wustl.edu 37 2 105892095 105892095 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001142621.1 -1 validated p.I529 0.227 209 0% 264 43.2% 13 38.4% - - - HMMPfam_Vps39_1 RGPD3 653489 genome.wustl.edu 37 2 107041537 107041537 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001144013.1 -1 validated p.I962M 0.999 1243 0% 1329 27.9% 0 - benign(0.02) deleterious(0.05) neutral(0.346) NULL RGPD3 653489 genome.wustl.edu 37 2 107084678 107084678 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001144013.1 -1 validated p.R23* 0.627 30 0% 78 44.9% 0 - - - - NULL RGPD4 285190 genome.wustl.edu 37 2 108443505 108443505 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_182588.2 +1 validated p.V12 1.000 58 0% 71 39.4% 0 - - - - NULL RGPD4 285190 genome.wustl.edu 37 2 108487472 108487472 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_182588.2 +1 validated p.F1004L 1.000 229 0% 287 34.5% 1 0% possibly_damaging(0.948) tolerated(0.15) deleterious(0.632) NULL RGPD4 285190 genome.wustl.edu 37 2 108488346 108488346 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_182588.2 +1 validated p.F1296V 1.000 479 0% 687 40.6% 3 0% probably_damaging(0.959) tolerated(0.22) neutral(0.445) NULL RGPD4 285190 genome.wustl.edu 37 2 108489043 108489043 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_182588.2 +1 validated p.T1528I 0.964 311 0.3% 365 25.2% 4 0% benign(0.019) tolerated(0.08) neutral(0.301) NULL GCC2 9648 genome.wustl.edu 37 2 109087187 109087187 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_181453.3 +1 reviewed p.N468H 0.995 28 0% 28 64.3% 0 - possibly_damaging(0.648) - - NULL LIMS1 3987 genome.wustl.edu 37 2 109276172 109276172 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004987.3 +1 reviewed p.F36 0.991 305 0% 416 27.2% 98 39.7% - - - HMMPfam_LIM,HMMSmart_LIM,PatternScan_LIM_DOMAIN_1 RANBP2 5903 genome.wustl.edu 37 2 109374979 109374979 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006267.4 +1 reviewed p.Q859 0.992 572 0% 686 42.6% 14 50% - - - NULL RANBP2 5903 genome.wustl.edu 37 2 109384331 109384331 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006267.4 +1 reviewed p.D2446Y 0.532 43 0% 35 22.9% 5 0% probably_damaging(0.965) - - NULL RANBP2 5903 genome.wustl.edu 37 2 109388278 109388278 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006267.4 +1 reviewed p.F2657 1.000 322 0% 360 41.1% 13 30.7% - - - NULL SEPT10 151011 genome.wustl.edu 37 2 110310678 110310678 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_144710.2 -1 reviewed p.E383* 1.000 524 0% 630 41.1% 4 25% - - - NULL BUB1 699 genome.wustl.edu 37 2 111408297 111408297 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004336.3 -1 reviewed p.R677C 0.000 82 0% 140 37.1% 49 36.7% benign(0.007) deleterious(0.03) neutral(0.364) NULL ACOXL 55289 genome.wustl.edu 37 2 111551709 111551709 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001142807.1 +1 validated p.A101 0.998 105 0% 200 46.5% 0 - - - - HMMPfam_Acyl-CoA_dh_M,superfamily_Acyl-CoA dehydrogenase NM domain-like ANAPC1 64682 genome.wustl.edu 37 2 112545857 112545857 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_022662.2 -1 validated p.L1585I 0.996 478 0% 639 19.2% 20 0% possibly_damaging(0.574) tolerated(0.97) neutral(0.197) NULL TMEM87B 84910 genome.wustl.edu 37 2 112858198 112858198 + Splice_Site SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032824.2 +1 validated e15-1 1.000 203 0% 228 35.1% 0 - - - - - ZC3H6 376940 genome.wustl.edu 37 2 113089997 113089997 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_198581.2 +1 validated p.E1168K 1.000 13 0% 13 30.8% 0 - possibly_damaging(0.482) tolerated(0.13) neutral(0.412) superfamily_Multiheme cytochromes POLR1B 84172 genome.wustl.edu 37 2 113332817 113332817 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_019014.4 +1 validated p.F973L 1.000 172 0% 164 48.2% 8 75% benign(0.123) deleterious(0) neutral(0.455) HMMPfam_RNA_pol_Rpb2_6,superfamily_beta and beta-prime subunits of DNA dependent RNA-polymerase SLC20A1 6574 genome.wustl.edu 37 2 113414669 113414669 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000409095 +1 known p.G22D 1.000 324 0% 368 38.3% 0 - unknown(0) deleterious(0) - HMMPfam_PHO4 CBWD2 150472 genome.wustl.edu 37 2 114253267 114253267 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_172003.3 +1 validated p.E379* 0.985 795 0% 944 14.3% 3 100% - - - NULL RABL2A 11159 genome.wustl.edu 37 2 114399682 114399682 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_007082.3 +1 reviewed p.E221D 0.195 153 0% 207 45.9% 2 50% possibly_damaging(0.868) deleterious(0) deleterious(0.782) NULL SLC35F5 80255 genome.wustl.edu 37 2 114480713 114480713 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000447673 -1 known p.S199F 1.000 226 0% 289 41.9% 25 52% - - - NULL DPP10 57628 genome.wustl.edu 37 2 116066930 116066930 + Splice_Site SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020868.3 +1 validated e2+1 1.000 392 0% 487 41.7% 0 - - - - - DPP10 57628 genome.wustl.edu 37 2 116485483 116485483 + Missense_Mutation SNP T T A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020868.3 +1 validated p.F223Y 1.000 169 0% 180 43.9% 0 - benign(0.007) tolerated(0.4) neutral(0.016) HMMPfam_DPPIV_N,superfamily_Dipeptidyl peptidase IV/CD26 N-terminal domain DPP10 57628 genome.wustl.edu 37 2 116598352 116598352 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020868.3 +1 validated p.E737* 1.000 341 0% 410 49.3% 0 - - - - HMMPfam_Peptidase_S9,superfamily_alpha/beta-Hydrolases ENSG00000163075 0 genome.wustl.edu 37 2 120383236 120383236 + Silent SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000443972 +1 known p.L55S 0.000 220 0% 350 42.9% 2 50% - - - NULL PCDP1 200373 genome.wustl.edu 37 2 120388449 120388449 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001029996.3 +1 validated p.S363Y 0.002 251 0.4% 326 16.6% 1 0% probably_damaging(0.968) deleterious(0) deleterious(0.855) NULL PTPN4 5775 genome.wustl.edu 37 2 120718469 120718469 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002830.2 +1 reviewed p.M740I 1.000 233 0% 310 44.8% 21 42.8% possibly_damaging(0.873) deleterious(0.01) deleterious(0.745) HMMPfam_Y_phosphatase,HMMSmart_PTPc,superfamily_SSF52799 GLI2 2736 genome.wustl.edu 37 2 121740294 121740294 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005270.4 +1 reviewed p.F507 0.994 40 0% 51 23.5% 1 0% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers CLASP1 23332 genome.wustl.edu 37 2 122135076 122135076 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015282.2 -1 validated p.I1214T 0.817 518 0% 636 42.5% 23 73.9% benign(0.03) tolerated(0.98) neutral(0.002) superfamily_ARM repeat CLASP1 23332 genome.wustl.edu 37 2 122220152 122220152 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015282.2 -1 validated p.E299* 1.000 292 0% 376 43.6% 0 - - - - superfamily_ARM repeat CNTNAP5 129684 genome.wustl.edu 37 2 125367442 125367442 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_130773.2 +1 reviewed p.I606 0.208 56 0% 59 39% 0 - - - - superfamily_Fibrinogen_a/b/g_C,superfamily_ConA_like_lec_gl CNTNAP5 129684 genome.wustl.edu 37 2 125405470 125405470 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_130773.2 +1 reviewed p.G670D 0.023 21 0% 41 53.7% 0 - benign(0.006) tolerated(0.5) neutral(0.010) superfamily_ConA_like_lec_gl CNTNAP5 129684 genome.wustl.edu 37 2 125530503 125530503 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_130773.2 +1 reviewed p.T886 0.286 166 0% 271 48.3% 0 - - - - HMMSmart_LamG,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_2 CYP27C1 339761 genome.wustl.edu 37 2 127961116 127961116 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001001665.3 -1 reviewed p.V4I 1.000 237 0% 307 45.6% 0 - benign(0.046) tolerated(0.41) neutral(0.017) superfamily_Cytochrome P450 MAP3K2 10746 genome.wustl.edu 37 2 128081548 128081548 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006609.3 -1 reviewed p.E256D 1.000 193 0% 277 24.9% 1 0% benign(0.003) tolerated(0.69) neutral(0.002) NULL PROC 5624 genome.wustl.edu 37 2 128185950 128185950 + Missense_Mutation SNP C C T rs121918154 TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000312.3 +1 reviewed p.R272C 0.015 47 0% 40 55% 5 20% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys MYO7B 4648 genome.wustl.edu 37 2 128331584 128331584 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001080527.1 +1 provisional p.E228K 0.998 104 0% 128 28.1% 0 - benign(0.155) deleterious(0.01) neutral(0.419) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases LIMS2 55679 genome.wustl.edu 37 2 128396954 128396954 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017980.4 -1 validated p.E334K 1.000 98 0% 108 40.7% 29 17.2% possibly_damaging(0.49) deleterious(0.01) deleterious(0.569) HMMPfam_LIM WDR33 55339 genome.wustl.edu 37 2 128520647 128520647 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018383.3 -1 reviewed p.R238I 1.000 197 0% 200 46.5% 15 53.3% benign(0.372) deleterious(0) deleterious(0.563) HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40 WDR33 55339 genome.wustl.edu 37 2 128522104 128522104 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001006622.1 -1 reviewed p.F308L 1.000 83 0% 113 46.9% 5 60% benign(0.002) deleterious(0.01) neutral(0.406) NULL SAP130 79595 genome.wustl.edu 37 2 128699628 128699628 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024545.3 -1 validated p.N1033 0.111 431 0.2% 488 43.6% 9 44.4% - - - NULL POTEF 728378 genome.wustl.edu 37 2 130833023 130833023 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001099771.2 -1 validated p.K674N 0.044 197 0% 307 44.3% 0 - possibly_damaging(0.873) deleterious(0) deleterious(0.784) NULL POTEF 728378 genome.wustl.edu 37 2 130877747 130877747 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001099771.2 -1 validated p.K114N 0.002 89 0% 144 38.2% 2 0% benign(0.123) deleterious(0.01) neutral(0.416) superfamily_ANK SMPD4 55627 genome.wustl.edu 37 2 130913689 130913689 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017951.3 -1 validated p.S442N 1.000 13 0% 18 38.9% 85 36.4% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL LOC653781 653781 genome.wustl.edu 37 2 131414991 131414991 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_929706.3 +1 model p.F886 1.000 73 0% 97 7.2% 0 - - - - HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain ARHGEF4 50649 genome.wustl.edu 37 2 131704102 131704102 + Silent SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015320.2 +1 reviewed p.I107 0.002 179 0% 248 41.5% 2 0% - - - NULL POTEE 445582 genome.wustl.edu 37 2 131976494 131976494 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001083538.1 +1 validated p.K173N 0.004 530 0% 706 13.2% 1 0% possibly_damaging(0.819) deleterious(0) deleterious(0.754) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat POTEE 445582 genome.wustl.edu 37 2 131984452 131984452 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001083538.1 +1 validated p.K289N 0.354 1225 0% 1455 24.7% 0 - possibly_damaging(0.819) deleterious(0) deleterious(0.754) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat POTEE 445582 genome.wustl.edu 37 2 132010655 132010655 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001083538.1 +1 validated p.E587D 0.002 537 0% 755 22.5% 0 - benign(0.395) deleterious(0) deleterious(0.572) NULL CCDC74A 90557 genome.wustl.edu 37 2 132285771 132285771 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_138770.1 +1 provisional p.E76 0.700 54 0% 78 29.5% 11 18.1% - - - NULL ZNF806 646915 genome.wustl.edu 37 2 133070512 133070512 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_001724242.2 +1 model p.Q29R 0.057 325 0% 448 21.9% 0 - - - - HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box NCKAP5 344148 genome.wustl.edu 37 2 133540643 133540643 + Silent SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_207363.2 -1 validated p.D1247 0.105 91 0% 105 48.6% 2 50% - - - NULL CCNT2 905 genome.wustl.edu 37 2 135676526 135676526 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_058241.1 +1 reviewed p.L34 0.981 53 0% 85 43.5% 8 12.5% - - - superfamily_Cyclin-like CCNT2 905 genome.wustl.edu 37 2 135711614 135711614 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_058241.1 +1 reviewed p.S530Y 1.000 53 0% 87 48.3% 11 18.1% possibly_damaging(0.688) deleterious(0) deleterious(0.691) NULL YSK4 80122 genome.wustl.edu 37 2 135738810 135738810 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_025052.3 -1 validated p.T1167 0.942 136 0% 178 34.8% 1 100% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase YSK4 80122 genome.wustl.edu 37 2 135738831 135738831 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_025052.3 -1 validated p.E1160D 0.993 126 0% 172 34.9% 1 0% probably_damaging(0.999) deleterious(0.04) deleterious(0.839) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase YSK4 80122 genome.wustl.edu 37 2 135782210 135782210 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_025052.3 -1 validated p.S3Y 1.000 650 0% 752 45.7% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL RAB3GAP1 22930 genome.wustl.edu 37 2 135878432 135878432 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_012233.2 +1 reviewed p.R231Q 1.000 639 0% 742 41.4% 10 60% probably_damaging(1) tolerated(0.14) deleterious(0.750) NULL LCT 3938 genome.wustl.edu 37 2 136567502 136567502 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002299.2 -1 reviewed p.F805 0.655 120 0% 127 51.2% 0 - - - - HMMPfam_Glyco_hydro_1,superfamily_Glyco_hydro_cat LCT 3938 genome.wustl.edu 37 2 136575123 136575123 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002299.2 -1 reviewed p.D499Y 1.000 36 0% 58 19% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Glyco_hydro_1,superfamily_Glyco_hydro_cat HNMT 3176 genome.wustl.edu 37 2 138727754 138727754 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006895.2 +1 reviewed p.E53* 1.000 270 0% 302 42.4% 3 33.3% - - - superfamily_S-adenosyl-L-methionine-dependent methyltransferases HNMT 3176 genome.wustl.edu 37 2 138771379 138771379 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006895.2 +1 reviewed p.Y186 0.952 118 0% 143 48.3% 16 0% - - - superfamily_S-adenosyl-L-methionine-dependent methyltransferases ARHGAP15 55843 genome.wustl.edu 37 2 144244967 144244967 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018460.3 +1 validated p.S243 0.549 169 0% 179 52.5% 0 - - - - NULL ZEB2 9839 genome.wustl.edu 37 2 145157064 145157064 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014795.3 -1 reviewed p.D564Y 1.000 391 0% 533 43.3% 2 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL ORC4 5000 genome.wustl.edu 37 2 148695960 148695960 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002552.2 -1 reviewed p.L321I 1.000 54 0% 84 41.7% 30 40% probably_damaging(0.957) deleterious(0.03) deleterious(0.765) NULL MBD5 55777 genome.wustl.edu 37 2 149220182 149220182 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018328.4 +1 reviewed p.Q49* 1.000 294 0.3% 378 44.2% 2 100% - - - HMMPfam_MBD,HMMSmart_SM00391 MBD5 55777 genome.wustl.edu 37 2 149227617 149227617 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018328.4 +1 reviewed p.S702Y 1.000 129 0% 186 43% 7 57.1% probably_damaging(0.989) deleterious(0) deleterious(0.884) NULL KIF5C 3800 genome.wustl.edu 37 2 149806436 149806436 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000435030 +1 known p.I266 1.000 298 0% 344 41.9% 0 - - - - HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases KIF5C 3800 genome.wustl.edu 37 2 149818509 149818509 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000435030 +1 known p.V331 0.997 266 0.4% 340 47.9% 0 - - - - HMMSmart_SM00129 RIF1 55183 genome.wustl.edu 37 2 152285358 152285358 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018151.4 +1 reviewed p.R283C 1.000 422 0% 493 42.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ARM repeat RIF1 55183 genome.wustl.edu 37 2 152298448 152298448 + Silent SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000414861 +1 known p.S551P 0.999 154 0% 177 39.5% 0 - - - - NULL NEB 4703 genome.wustl.edu 37 2 152381773 152381773 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004543.4 -1 reviewed p.K5691N 1.000 209 0% 311 44.1% 0 - probably_damaging(0.987) tolerated(0.06) deleterious(0.759) HMMPfam_Nebulin,HMMSmart_SM00227 NEB 4703 genome.wustl.edu 37 2 152388411 152388411 + Splice_Site SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004543.4 -1 reviewed e115-1 1.000 389 0% 538 42% 0 - - - - - NEB 4703 genome.wustl.edu 37 2 152411447 152411447 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004543.4 -1 reviewed p.D4775N 1.000 214 0% 302 38.7% 1 100% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Nebulin,HMMSmart_SM00227 NEB 4703 genome.wustl.edu 37 2 152424842 152424842 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004543.4 -1 reviewed p.R4207 1.000 283 0% 335 43% 0 - - - - HMMPfam_Nebulin,HMMSmart_SM00227 NEB 4703 genome.wustl.edu 37 2 152475991 152475991 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004543.4 -1 reviewed p.R3373W 0.930 92 0% 159 44% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_Nebulin,HMMSmart_SM00227 NEB 4703 genome.wustl.edu 37 2 152492816 152492816 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000397342 -1 known p.K1736N 1.000 239 0% 267 42.3% 0 - probably_damaging(1) - - HMMPfam_Nebulin NEB 4703 genome.wustl.edu 37 2 152525622 152525622 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004543.4 -1 reviewed p.E1510D 1.000 287 0% 356 26.4% 0 - possibly_damaging(0.476) tolerated(0.32) neutral(0.181) HMMPfam_Nebulin,HMMSmart_SM00227 NEB 4703 genome.wustl.edu 37 2 152537333 152537333 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004543.4 -1 reviewed p.R985C 1.000 399 0% 466 24% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Nebulin,HMMSmart_SM00227 CACNB4 785 genome.wustl.edu 37 2 152711848 152711848 + Nonsense_Mutation SNP T T A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000726.3 -1 reviewed p.R304* 1.000 272 0% 372 49.2% 0 - - - - HMMPfam_Ca_channel_B,HMMSmart_SM00072,superfamily_P-loop containing nucleoside triphosphate hydrolases FMNL2 114793 genome.wustl.edu 37 2 153431673 153431673 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_052905.3 +1 reviewed p.R207I 1.000 284 0% 357 42.3% 10 60% probably_damaging(0.985) deleterious(0.01) deleterious(0.838) HMMPfam_Drf_GBD GALNT13 114805 genome.wustl.edu 37 2 155115588 155115588 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_052917.2 +1 validated p.E304D 1.000 406 0% 418 39.2% 0 - benign(0.001) tolerated(0.42) neutral(0.014) superfamily_Nucleotide-diphospho-sugar transferases GALNT13 114805 genome.wustl.edu 37 2 155158059 155158059 + Silent SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_052917.2 +1 validated p.V371 0.333 296 0% 386 15.8% 0 - - - - superfamily_Nucleotide-diphospho-sugar transferases KCNJ3 3760 genome.wustl.edu 37 2 155711567 155711567 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002239.2 +1 reviewed p.L416 0.997 76 0% 96 36.5% 0 - - - - NULL KCNJ3 3760 genome.wustl.edu 37 2 155711814 155711814 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002239.2 +1 reviewed p.R499C 1.000 12 0% 30 30% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL NR4A2 4929 genome.wustl.edu 37 2 157182707 157182707 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006186.3 -1 reviewed p.D499N 1.000 67 1.5% 108 40.7% 5 60% benign(0.023) deleterious(0.03) neutral(0.365) HMMPfam_Hormone_recep,HMMSmart_SM00430,superfamily_Nuclear receptor ligand-binding domain UPP2 151531 genome.wustl.edu 37 2 158971688 158971688 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001135098.1 +1 validated p.E143K 0.012 169 0% 242 47.1% 2 0% benign(0) tolerated(0.87) neutral(0.001) HMMPfam_PNP_UDP_1,superfamily_Purine and uridine phosphorylases PKP4 8502 genome.wustl.edu 37 2 159433885 159433885 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003628.3 +1 reviewed p.A79T 1.000 109 0% 130 45.4% 29 58.6% possibly_damaging(0.816) tolerated(0.35) neutral(0.329) NULL BAZ2B 29994 genome.wustl.edu 37 2 160181375 160181375 + Silent SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_013450.2 -1 validated p.V2100 1.000 135 0% 175 48% 2 0% - - - HMMPfam_Bromodomain,HMMSmart_SM00297,superfamily_Bromodomain,PatternScan_BROMODOMAIN_1 BAZ2B 29994 genome.wustl.edu 37 2 160193530 160193530 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_013450.2 -1 validated p.R1907C 1.000 197 0% 246 39.8% 13 53.8% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL LY75 4065 genome.wustl.edu 37 2 160706517 160706517 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002349.2 -1 validated p.S1042R 0.057 319 0% 424 45.5% 8 12.5% possibly_damaging(0.667) tolerated(0.31) neutral(0.263) HMMSmart_SM00034,superfamily_C-type lectin-like LY75 4065 genome.wustl.edu 37 2 160737752 160737752 + Splice_Site SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002349.2 -1 validated e8-1 1.000 202 0% 207 39.1% 0 - - - - - ITGB6 3694 genome.wustl.edu 37 2 161030579 161030579 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000888.3 -1 provisional p.R222I 0.993 209 0% 309 44.3% 7 42.8% possibly_damaging(0.857) tolerated(0.18) neutral(0.387) HMMPfam_Integrin_beta,HMMSmart_SM00187,superfamily_vWA-like PSMD14 10213 genome.wustl.edu 37 2 162267823 162267823 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005805.4 +1 validated p.R282H 1.000 319 0% 405 46.9% 189 42.8% benign(0.036) deleterious(0.02) neutral(0.385) NULL SLC4A10 57282 genome.wustl.edu 37 2 162761411 162761411 + Missense_Mutation SNP A A T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_022058.3 +1 reviewed p.K551N 0.997 412 0.2% 532 40% 0 - probably_damaging(0.998) tolerated(0.73) deleterious(0.476) HMMPfam_HCO3_cotransp DPP4 1803 genome.wustl.edu 37 2 162870910 162870910 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001935.3 -1 reviewed p.D545Y 1.000 193 0% 242 41.7% 0 - benign(0.202) tolerated(0.2) neutral(0.069) superfamily_alpha/beta-Hydrolases FAP 2191 genome.wustl.edu 37 2 163029382 163029382 + Missense_Mutation SNP A A T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004460.2 -1 reviewed p.F707Y 1.000 198 0.5% 296 48.3% 10 0% probably_damaging(1) tolerated(0.19) deleterious(0.549) HMMPfam_Peptidase_S9,superfamily_SSF53474 KCNH7 90134 genome.wustl.edu 37 2 163241268 163241268 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_033272.2 -1 reviewed p.G964 0.020 313 0% 466 43.3% 0 - - - - NULL FIGN 55137 genome.wustl.edu 37 2 164466645 164466645 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018086.2 -1 validated p.I566S 1.000 105 0% 113 44.2% 1 0% probably_damaging(0.959) deleterious(0) deleterious(0.847) HMMSmart_AAA,HMMPfam_AAA,superfamily_SSF52540 GRB14 2888 genome.wustl.edu 37 2 165350965 165350965 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004490.2 -1 reviewed p.K484N 1.000 422 0% 514 19.1% 1 0% possibly_damaging(0.748) deleterious(0) deleterious(0.719) HMMPfam_SH2,HMMSmart_SH2,superfamily_SSF55550 GRB14 2888 genome.wustl.edu 37 2 165358780 165358780 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004490.2 -1 reviewed p.Q363H 1.000 191 0% 202 39.6% 1 100% possibly_damaging(0.46) tolerated(0.59) neutral(0.155) NULL COBLL1 22837 genome.wustl.edu 37 2 165559658 165559658 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014900.3 -1 validated p.F433C 0.008 72 0% 86 34.9% 1 100% benign(0.132) tolerated(0.11) neutral(0.283) NULL SCN3A 6328 genome.wustl.edu 37 2 165970353 165970353 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006922.3 -1 reviewed p.F1214L 1.000 170 0.6% 221 46.2% 0 - benign(0.016) tolerated(0.18) neutral(0.057) HMMPfam_Na_trans_assoc,superfamily_SSF81324 SCN3A 6328 genome.wustl.edu 37 2 165986560 165986560 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006922.3 -1 reviewed p.R938C 1.000 359 0% 485 41.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ion_trans,superfamily_SSF81324 SCN3A 6328 genome.wustl.edu 37 2 165997322 165997322 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006922.3 -1 reviewed p.R620* 1.000 188 0.5% 279 48% 0 - - - - NULL SCN3A 6328 genome.wustl.edu 37 2 166011072 166011072 + Missense_Mutation SNP C C G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006922.3 -1 reviewed p.A424P 1.000 275 0% 340 47.9% 0 - probably_damaging(0.974) deleterious(0) deleterious(0.861) superfamily_SSF81324 SCN2A 6326 genome.wustl.edu 37 2 166201220 166201220 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001040142.1 +1 reviewed p.S906 1.000 277 0% 367 46.9% 0 - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels SCN2A 6326 genome.wustl.edu 37 2 166245192 166245192 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001040142.1 +1 reviewed p.R1626* 1.000 245 0% 352 40.6% 0 - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels SCN2A 6326 genome.wustl.edu 37 2 166245632 166245632 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001040142.1 +1 reviewed p.I1772 0.956 460 0% 568 41.9% 0 - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels GALNT3 2591 genome.wustl.edu 37 2 166613596 166613596 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004482.3 -1 reviewed p.F451L 1.000 288 0% 417 44.4% 5 80% probably_damaging(0.985) deleterious(0) deleterious(0.877) superfamily_Nucleotide-diphospho-sugar transferases TTC21B 79809 genome.wustl.edu 37 2 166785690 166785690 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024753.3 -1 validated p.F447L 1.000 107 0% 150 51.3% 0 - benign(0.425) deleterious(0) deleterious(0.583) NULL SCN1A 6323 genome.wustl.edu 37 2 166852583 166852583 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006920.4 -1 reviewed p.Y1496* 1.000 571 0% 635 41.4% 0 - - - - superfamily_SSF81324 SCN1A 6323 genome.wustl.edu 37 2 166892666 166892666 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006920.4 -1 reviewed p.N1096 1.000 430 0.5% 500 46.2% 0 - - - - HMMPfam_Na_trans_assoc,superfamily_SSF81324 SCN1A 6323 genome.wustl.edu 37 2 166904240 166904240 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006920.4 -1 reviewed p.R356I 1.000 241 0% 305 46.9% 0 - probably_damaging(0.99) tolerated(0.08) deleterious(0.742) HMMPfam_Ion_trans,superfamily_SSF81324 SCN9A 6335 genome.wustl.edu 37 2 167056188 167056188 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002977.3 -1 reviewed p.V1643A 1.000 470 0% 560 42.5% 1 0% probably_damaging(0.989) deleterious(0) deleterious(0.884) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels SCN9A 6335 genome.wustl.edu 37 2 167056321 167056321 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002977.3 -1 reviewed p.R1599* 1.000 238 0% 309 45% 0 - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels SCN9A 6335 genome.wustl.edu 37 2 167094709 167094709 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002977.3 -1 reviewed p.I1221 1.000 118 0% 202 41.6% 0 - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels SCN7A 6332 genome.wustl.edu 37 2 167289121 167289121 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002976.2 -1 validated p.L767I 0.000 307 0% 325 47.1% 0 - benign(0.018) tolerated(0.31) neutral(0.028) HMMPfam_Na_trans_assoc XIRP2 129446 genome.wustl.edu 37 2 168100755 168100755 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152381.4 +1 validated p.I951 0.069 60 0% 71 33.8% 0 - - - - HMMPfam_Xin XIRP2 129446 genome.wustl.edu 37 2 168102396 168102396 + Silent SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152381.4 +1 validated p.T1498 0.985 95 0% 137 50.4% 0 - - - - HMMPfam_Xin XIRP2 129446 genome.wustl.edu 37 2 168103049 168103049 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152381.4 +1 validated p.T1716I 0.996 245 0.8% 292 40.8% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL XIRP2 129446 genome.wustl.edu 37 2 168106856 168106856 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152381.4 +1 validated p.G2985E 0.001 38 0% 56 32.1% 0 - benign(0.012) tolerated(0.67) neutral(0.003) NULL XIRP2 129446 genome.wustl.edu 37 2 168107285 168107285 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152381.4 +1 validated p.S3128Y 1.000 135 0% 198 37.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL CERS6 253782 genome.wustl.edu 37 2 169571552 169571552 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_203463.1 +1 validated p.F217L 0.252 499 0% 690 42.5% 6 0% benign(0) tolerated(0.87) neutral(0.001) HMMPfam_TRAM_LAG1_CLN8,HMMSmart_TLC G6PC2 57818 genome.wustl.edu 37 2 169763269 169763269 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_021176.2 +1 reviewed p.V179A 1.000 337 0% 459 44.7% 0 - possibly_damaging(0.882) deleterious(0.04) deleterious(0.694) HMMPfam_PAP2,HMMSmart_SM00014,superfamily_Acid phosphatase/Vanadium-dependent haloperoxidase ABCB11 8647 genome.wustl.edu 37 2 169842731 169842731 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003742.2 -1 reviewed p.F324L 0.998 217 0.5% 323 19.5% 0 - benign(0.001) tolerated(0.37) neutral(0.019) HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain LRP2 4036 genome.wustl.edu 37 2 170013914 170013914 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004525.2 -1 reviewed p.E3996K 0.825 320 0.3% 355 26.5% 0 - benign(0) tolerated(1) - HMMSmart_EGF LRP2 4036 genome.wustl.edu 37 2 170058148 170058148 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004525.2 -1 reviewed p.E2814D 1.000 214 0% 311 41.2% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Ldl_recept_a,HMMSmart_LDLa,superfamily_LDL_rcpt_classA_cys-rich LRP2 4036 genome.wustl.edu 37 2 170063710 170063710 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004525.2 -1 reviewed p.L2174M 0.243 82 0% 115 47.8% 0 - probably_damaging(0.99) tolerated(0.16) deleterious(0.501) HMMPfam_Ldl_recept_b,HMMSmart_LY,superfamily_SSF63825 LRP2 4036 genome.wustl.edu 37 2 170099564 170099564 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004525.2 -1 reviewed p.S1190Y 0.673 218 0% 264 51.1% 0 - benign(0.002) tolerated(1) - HMMPfam_Ldl_recept_a,HMMSmart_LDLa,superfamily_LDL_rcpt_classA_cys-rich LRP2 4036 genome.wustl.edu 37 2 170134300 170134300 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004525.2 -1 reviewed p.S576Y 0.646 247 0% 336 45.8% 0 - probably_damaging(0.955) deleterious(0.02) deleterious(0.782) HMMPfam_Ldl_recept_b,HMMSmart_LY,superfamily_Grow_fac_recept,superfamily_SSF63825 PPIG 9360 genome.wustl.edu 37 2 170487353 170487353 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004792.2 +1 validated p.S206N 1.000 75 0% 76 47.4% 14 35.7% unknown(0) deleterious(0.02) - NULL C2orf77 129881 genome.wustl.edu 37 2 170531181 170531181 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001085447.1 -1 validated p.L189F 0.992 426 0% 527 46.5% 0 - benign(0.293) tolerated(0.31) neutral(0.117) NULL KLHL23 151230 genome.wustl.edu 37 2 170592168 170592168 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_144711.4 +1 validated p.R215Q 1.000 68 1.5% 73 45.2% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_BACK METTL5 29081 genome.wustl.edu 37 2 170677648 170677648 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000308099 -1 known p.S119L 1.000 207 0% 267 44.9% 34 38.2% benign(0.002) deleterious(0) neutral(0.445) NULL UBR3 130507 genome.wustl.edu 37 2 170917894 170917894 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_172070.3 +1 validated p.L1654F 1.000 370 0% 409 40.3% 18 44.4% probably_damaging(1) deleterious(0) deleterious(0.945) NULL UBR3 130507 genome.wustl.edu 37 2 170937091 170937091 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_172070.3 +1 validated p.L1816I 1.000 262 0% 345 45.5% 51 25.4% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL GORASP2 26003 genome.wustl.edu 37 2 171806730 171806730 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015530.3 +1 reviewed p.S122Y 1.000 163 0% 170 42.4% 127 44.8% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_PDZ domain-like,HMMPfam_GRASP55_65 TLK1 9874 genome.wustl.edu 37 2 171910356 171910356 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_012290.4 -1 validated p.L216R 1.000 312 0% 332 26.8% 6 50% probably_damaging(0.996) tolerated(0.08) deleterious(0.762) NULL TLK1 9874 genome.wustl.edu 37 2 171939331 171939331 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_012290.4 -1 validated p.S97I 1.000 245 0% 283 45.2% 10 60% probably_damaging(0.994) deleterious(0) deleterious(0.897) NULL SLC25A12 8604 genome.wustl.edu 37 2 172701007 172701007 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003705.3 -1 reviewed p.E113* 1.000 137 0% 172 55.2% 0 - - - - HMMSmart_EFh,superfamily_SSF47473 ITGA6 3655 genome.wustl.edu 37 2 173349546 173349546 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001079818.1 +1 reviewed p.R529I 1.000 52 0% 76 46.1% 6 0% probably_damaging(0.977) deleterious(0) deleterious(0.863) HMMPfam_Integrin_alpha2,superfamily_Integrin domains RAPGEF4 11069 genome.wustl.edu 37 2 173882186 173882186 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_007023.3 +1 validated p.G654 0.344 123 0.8% 124 54.8% 2 0% - - - superfamily_Ras GEF ZAK 51776 genome.wustl.edu 37 2 174081866 174081866 + Missense_Mutation SNP A A T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016653.2 +1 reviewed p.E292V 1.000 149 0% 174 48.3% 16 43.7% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL CDCA7 83879 genome.wustl.edu 37 2 174231942 174231942 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_031942.4 +1 reviewed p.R417Q 1.000 316 0% 408 43.1% 16 31.2% probably_damaging(0.999) tolerated(0.09) deleterious(0.787) HMMPfam_zf-4CXXC_R1 SP3 6670 genome.wustl.edu 37 2 174820423 174820423 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003111.4 -1 reviewed p.D273N 1.000 103 1% 141 43.3% 41 36.5% probably_damaging(0.998) tolerated(0.07) deleterious(0.793) NULL GPR155 151556 genome.wustl.edu 37 2 175300957 175300957 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001033045.2 -1 validated p.L834I 1.000 194 0% 216 53.7% 0 - benign(0.01) tolerated(0.39) neutral(0.017) "HMMSmart_SM00049,superfamily_""Winged helix"" DNA-binding domain" GPR155 151556 genome.wustl.edu 37 2 175324611 175324611 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001033045.2 -1 validated p.E589G 1.000 80 0% 118 54.2% 1 0% possibly_damaging(0.772) tolerated(0.26) neutral(0.321) NULL LOC100133109 100133109 genome.wustl.edu 37 2 175584853 175584853 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_001716442.2 -1 model p.S42L 0.994 69 0% 128 19.5% 447 0% - - - NULL CHRNA1 1134 genome.wustl.edu 37 2 175619034 175619034 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001039523.2 -1 reviewed p.I176 0.919 165 0% 245 40.8% 1 0% - - - HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like,PatternScan_NEUROTR_ION_CHANNEL MIR10B 406903 genome.wustl.edu 37 2 177015104 177015104 + RNA SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000385011 +1 known NULL 1.000 183 0% 296 41.2% 0 - - - - - HOXD4 3233 genome.wustl.edu 37 2 177017368 177017368 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014621.2 +1 reviewed p.R156W 1.000 29 0% 34 44.1% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like HNRNPA3 220988 genome.wustl.edu 37 2 178083827 178083827 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_194247.2 +1 validated p.N342D 1.000 210 0% 290 45.5% 252 41.2% unknown(0) deleterious(0.03) - NULL NFE2L2 4780 genome.wustl.edu 37 2 178095836 178095836 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006164.3 -1 validated p.R499W 1.000 431 0% 506 43.1% 34 32.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00338,superfamily_A DNA-binding domain in eukaryotic transcription factors,HMMPfam_bZIP_1 PDE11A 50940 genome.wustl.edu 37 2 178684986 178684986 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016953.3 -1 reviewed p.L513I 1.000 272 0% 338 42.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_GAF,HMMSmart_SM00065,superfamily_GAF domain-like OSBPL6 114880 genome.wustl.edu 37 2 179196311 179196311 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_145739.1 +1 reviewed p.K96N 1.000 453 0% 570 41.4% 0 - probably_damaging(0.998) deleterious(0.05) deleterious(0.820) HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 OSBPL6 114880 genome.wustl.edu 37 2 179247826 179247826 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_145739.1 +1 reviewed p.T570I 1.000 87 0% 120 48.3% 1 0% probably_damaging(0.989) tolerated(0.12) deleterious(0.700) HMMPfam_Oxysterol_BP FKBP7 51661 genome.wustl.edu 37 2 179343014 179343014 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_181342.2 -1 reviewed p.F71L 1.000 80 0% 128 43% 3 0% benign(0.021) tolerated(0.06) neutral(0.324) HMMPfam_FKBP_C,superfamily_FKBP-like TTN 7273 genome.wustl.edu 37 2 179391829 179391829 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_133378.4 -1 reviewed p.R33394K 1.000 339 0% 478 16.7% 0 - - - - NULL TTN 7273 genome.wustl.edu 37 2 179395948 179395948 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000356127 -1 known p.L32562I 0.962 167 0% 221 43% 0 - benign(0.007) - - HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179397260 179397260 + Silent SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_133378.4 -1 reviewed p.H32126R 0.861 113 0% 156 44.9% 0 - - - - NULL TTN 7273 genome.wustl.edu 37 2 179417670 179417670 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000356127 -1 known p.K27416T 1.000 91 0% 103 32% 0 - probably_damaging(0.99) - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179424301 179424301 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000356127 -1 known p.T26283N 0.000 210 0.5% 266 38.7% 0 - benign(0.144) - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179431220 179431220 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000356127 -1 known p.R23977* 1.000 124 0% 184 37% 0 - - - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179435049 179435049 + Silent SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_133378.4 -1 reviewed p.L22702S 0.917 133 0% 196 20.4% 0 - - - - NULL TTN 7273 genome.wustl.edu 37 2 179435287 179435287 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_133378.4 -1 reviewed p.E22623* 1.000 143 0% 197 52.3% 0 - probably_damaging(0.999) - - NULL TTN 7273 genome.wustl.edu 37 2 179438628 179438628 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000356127 -1 known p.E21507D 1.000 210 0% 259 20.8% 0 - possibly_damaging(0.862) - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179439045 179439045 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000356127 -1 known p.R21368S 1.000 153 0% 172 52.3% 0 - probably_damaging(0.997) - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179442184 179442184 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000356127 -1 known p.A20390S 1.000 144 0% 185 41.1% 1 0% possibly_damaging(0.9) - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179444390 179444390 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000356127 -1 known p.D19942Y 1.000 228 0% 374 41.2% 1 100% probably_damaging(0.964) - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179451434 179451434 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_133378.4 -1 reviewed p.S18830L 0.649 366 0% 516 18% 0 - - - - NULL TTN 7273 genome.wustl.edu 37 2 179453945 179453945 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000356127 -1 known p.R18266Q 1.000 92 0% 148 46.6% 0 - benign(0.098) - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179455521 179455521 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000356127 -1 known p.R17741* 1.000 152 0.7% 156 39.1% 0 - - - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179472162 179472162 + Silent SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000356127 -1 known p.G15183 0.991 342 0% 511 41.7% 0 - - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179476841 179476841 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000356127 -1 known p.R14198Q 1.000 359 0% 512 39.8% 0 - benign(0.098) - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179495967 179495967 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000356127 -1 known p.V12035G 0.997 168 0% 227 44.5% 0 - benign(0.014) - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179496966 179496966 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000356127 -1 known p.S11984L 0.996 306 0% 420 42.6% 1 0% benign(0.29) - - HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179496967 179496967 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000356127 -1 known p.S11984P 0.995 300 0% 417 30.5% 1 0% possibly_damaging(0.539) - - HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179499279 179499279 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000356127 -1 known p.L11509F 0.992 64 0% 69 44.9% 0 - benign(0.04) - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179569660 179569660 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000356127 -1 known p.E8636K 0.998 235 0% 322 41.6% 0 - unknown(0) - - NULL TTN 7273 genome.wustl.edu 37 2 179570056 179570056 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000356127 -1 known p.E8573K 1.000 195 0% 233 43.8% 0 - unknown(0) - - NULL TTN 7273 genome.wustl.edu 37 2 179571252 179571252 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000356127 -1 known p.N8539K 1.000 293 0% 411 47.2% 0 - unknown(0) - - HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179577515 179577515 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000356127 -1 known p.F7835 1.000 103 0% 92 50% 0 - - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179577814 179577814 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000356127 -1 known p.R7772K 1.000 75 0% 91 35.2% 0 - unknown(0) - - HMMSmart_SM00409 TTN 7273 genome.wustl.edu 37 2 179584895 179584895 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000356127 -1 known p.S6581Y 1.000 176 0% 223 43.5% 0 - unknown(0) - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179584978 179584978 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000356127 -1 known p.F6553 1.000 210 0.5% 256 42.6% 0 - - - - HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179585804 179585804 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000356127 -1 known p.E6404K 1.000 143 0% 197 39.1% 0 - unknown(0) - - HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179587562 179587562 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000356127 -1 known p.S6111Y 1.000 122 0% 159 42.1% 0 - unknown(0) - - HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179588290 179588290 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000356127 -1 known p.K5935N 0.976 224 0% 308 46.8% 0 - unknown(0) - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179590625 179590625 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000356127 -1 known p.K5564N 1.000 218 0% 287 23.7% 0 - unknown(0) - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179592510 179592510 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000356127 -1 known p.G5355* 1.000 162 0% 229 37.1% 0 - - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179593264 179593264 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000356127 -1 known p.F5219 1.000 137 0% 152 41.4% 0 - - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179596569 179596569 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000356127 -1 known p.R4434Q 0.981 126 0% 129 40.3% 0 - unknown(0) - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179597813 179597813 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000356127 -1 known p.R4120C 1.000 84 0% 117 45.3% 0 - unknown(0) - - HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179615724 179615724 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_133379.3 -1 reviewed p.I3801M 0.439 215 0% 274 28.1% 0 - benign(0.234) deleterious(0.02) neutral(0.407) NULL TTN 7273 genome.wustl.edu 37 2 179645862 179645862 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_133379.3 -1 reviewed p.S1170F 1.000 216 0% 262 46.2% 0 - possibly_damaging(0.741) - - HMMPfam_I-set,superfamily_SSF48726 TTN 7273 genome.wustl.edu 37 2 179647598 179647598 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_133379.3 -1 reviewed p.R1012Q 1.000 80 0% 111 42.3% 0 - possibly_damaging(0.465) - - HMMSmart_IGc2,HMMPfam_I-set,superfamily_SSF48726 TTN 7273 genome.wustl.edu 37 2 179647680 179647680 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_133379.3 -1 reviewed p.S985R 1.000 101 0% 173 35.8% 0 - possibly_damaging(0.539) - - HMMSmart_IGc2,HMMPfam_I-set,superfamily_SSF48726 CCDC141 285025 genome.wustl.edu 37 2 179730620 179730620 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_173648.2 -1 provisional p.K291N 0.998 79 0% 136 39.7% 0 - probably_damaging(1) tolerated(0.22) deleterious(0.542) NULL CWC22 57703 genome.wustl.edu 37 2 180843000 180843000 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020943.2 -1 validated p.I166M 1.000 344 0% 436 43.8% 2 100% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_MIF4G,HMMSmart_SM00543,superfamily_ARM repeat CERKL 375298 genome.wustl.edu 37 2 182430216 182430216 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001030311.2 -1 reviewed p.F233 0.000 203 0% 287 42.2% 1 0% - - - HMMPfam_DAGK_cat SSFA2 6744 genome.wustl.edu 37 2 182774685 182774685 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001130445.1 +1 validated p.T491 0.790 122 0% 165 47.9% 100 47% - - - NULL DNAJC10 54431 genome.wustl.edu 37 2 183621136 183621136 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018981.1 +1 provisional p.F583 1.000 204 0% 247 18.2% 95 22.1% - - - superfamily_Thioredoxin-like,HMMPfam_Thioredoxin NUP35 129401 genome.wustl.edu 37 2 183995184 183995184 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_138285.3 +1 reviewed p.D84Y 1.000 103 0% 141 46.1% 11 54.5% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL ZNF804A 91752 genome.wustl.edu 37 2 185463727 185463727 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_194250.1 +1 provisional p.S14N 1.000 99 0% 138 39.9% 0 - possibly_damaging(0.832) deleterious(0) deleterious(0.762) NULL ZNF804A 91752 genome.wustl.edu 37 2 185802333 185802333 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_194250.1 +1 provisional p.R737K 0.000 53 0% 73 50.7% 0 - possibly_damaging(0.631) tolerated(0.81) neutral(0.221) NULL FSIP2 401024 genome.wustl.edu 37 2 186671186 186671186 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000424728 +1 known p.I5718S 0.000 96 0% 138 29% 0 - benign(0.25) deleterious(0.01) neutral(0.431) NULL ZSWIM2 151112 genome.wustl.edu 37 2 187712516 187712516 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_182521.2 -1 validated p.L58I 0.914 115 0% 178 12.4% 0 - possibly_damaging(0.595) tolerated(0.32) neutral(0.230) HMMPfam_SWIM COL3A1 1281 genome.wustl.edu 37 2 189862429 189862429 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000090.3 +1 reviewed p.P625S 0.031 312 0% 325 42.5% 571 0% unknown(0) tolerated(0.06) - HMMPfam_Collagen COL5A2 1290 genome.wustl.edu 37 2 189904202 189904202 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000393.3 -1 reviewed p.D1241N 1.000 68 0% 93 39.8% 33 6% possibly_damaging(0.86) - - NULL ASNSD1 54529 genome.wustl.edu 37 2 190532545 190532545 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_019048.2 +1 validated p.R507H 0.993 287 0% 416 17.1% 46 13% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Asn_synthase,superfamily_Adenine nucleotide alpha hydrolases-like OSGEPL1 64172 genome.wustl.edu 37 2 190620230 190620230 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_022353.2 -1 validated p.R93L 0.005 103 0% 146 40.4% 5 40% benign(0.096) tolerated(0.37) neutral(0.026) HMMPfam_Peptidase_M22,superfamily_Actin-like ATPase domain INPP1 3628 genome.wustl.edu 37 2 191236072 191236072 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001128928.1 +1 reviewed p.E382* 1.000 66 1.5% 87 21.8% 7 28.5% - - - superfamily_Carbohydrate phosphatase NAB1 4664 genome.wustl.edu 37 2 191551947 191551947 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005966.3 +1 validated p.R427* 1.000 111 0% 108 44.4% 23 21.7% - - - HMMPfam_Nab1 TMEFF2 23671 genome.wustl.edu 37 2 192922425 192922425 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016192.2 -1 provisional p.D172 0.998 129 0% 167 52.7% 0 - - - - superfamily_Kazal-type serine protease inhibitors DNAH7 56171 genome.wustl.edu 37 2 196636412 196636412 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018897.2 -1 validated p.S3802L 0.998 299 0% 392 43.9% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Dynein_heavy DNAH7 56171 genome.wustl.edu 37 2 196718094 196718094 + Silent SNP G G A rs147463217 by1000genomes TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018897.2 -1 validated p.L2918 0.996 116 0% 155 20% 1 0% - - - NULL DNAH7 56171 genome.wustl.edu 37 2 196865502 196865502 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018897.2 -1 validated p.L427I 0.629 274 0% 276 35.1% 0 - possibly_damaging(0.579) tolerated(0.21) neutral(0.243) NULL STK17B 9262 genome.wustl.edu 37 2 197002222 197002222 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004226.3 -1 validated p.F356 0.991 249 0% 304 40.5% 2 0% - - - NULL HECW2 57520 genome.wustl.edu 37 2 197184345 197184345 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020760.1 -1 provisional p.I423 0.242 63 0% 90 47.8% 0 - - - - NULL HECW2 57520 genome.wustl.edu 37 2 197184586 197184586 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020760.1 -1 provisional p.S343Y 0.025 84 0% 110 46.4% 0 - possibly_damaging(0.861) deleterious(0) deleterious(0.778) NULL CCDC150 284992 genome.wustl.edu 37 2 197594043 197594043 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001080539.1 +1 provisional p.Q895K 0.955 165 0% 198 26.3% 0 - possibly_damaging(0.891) tolerated(0.3) neutral(0.379) NULL PGAP1 80055 genome.wustl.edu 37 2 197767400 197767400 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024989.3 -1 validated p.S239Y 1.000 252 0% 330 36.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PGAP1,superfamily_alpha/beta-Hydrolases ANKRD44 91526 genome.wustl.edu 37 2 198011784 198011784 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_153697.1 -1 provisional p.D28Y 1.000 237 0% 271 41.7% 1 100% benign(0.029) deleterious(0.03) neutral(0.366) HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK SF3B1 23451 genome.wustl.edu 37 2 198266828 198266828 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_012433.2 -1 reviewed p.R702W 1.000 81 0% 90 44.4% 193 41.9% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HEAT,superfamily_ARM repeat PLCL1 5334 genome.wustl.edu 37 2 198948691 198948691 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006226.3 +1 validated p.K52N 1.000 182 0% 178 41.6% 0 - probably_damaging(0.999) tolerated(0.23) deleterious(0.532) HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 TYW5 129450 genome.wustl.edu 37 2 200801182 200801182 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001039693.2 -1 validated p.K174Q 1.000 204 0% 266 44% 3 66.6% benign(0.405) tolerated(0.21) neutral(0.174) HMMSmart_SM00558,superfamily_Clavaminate synthase-like SGOL2 151246 genome.wustl.edu 37 2 201436940 201436940 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152524.5 +1 validated p.S624Y 0.787 17 0% 18 55.6% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL AOX1 316 genome.wustl.edu 37 2 201473767 201473767 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001159.3 +1 reviewed p.V323A 0.021 115 0% 129 55.8% 0 - benign(0.413) deleterious(0.01) deleterious(0.539) HMMPfam_FAD_binding_5,superfamily_FAD-binding domain AOX1 316 genome.wustl.edu 37 2 201485845 201485845 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001159.3 +1 reviewed p.S626Y 0.858 175 0% 266 40.6% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Ald_Xan_dh_C,superfamily_CO dehydrogenase molybdoprotein N-domain-like AOX1 316 genome.wustl.edu 37 2 201515909 201515909 + Silent SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001159.3 +1 reviewed p.S1020 0.000 123 0% 164 38.4% 0 - - - - HMMPfam_Ald_Xan_dh_C2,superfamily_Molybdenum cofactor-binding domain CLK1 1195 genome.wustl.edu 37 2 201724413 201724413 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004071.3 -1 reviewed p.D180N 1.000 212 0% 222 48.6% 42 30.9% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase PPIL3 53938 genome.wustl.edu 37 2 201741706 201741706 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032472.3 -1 reviewed p.S103A 0.999 225 0% 282 40.1% 45 40% probably_damaging(0.964) deleterious(0.04) deleterious(0.755) HMMPfam_Pro_isomerase,superfamily_CSA_PPIase FAM126B 285172 genome.wustl.edu 37 2 201857702 201857702 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_173822.3 -1 validated p.R217 0.999 234 0% 280 41.8% 0 - - - - HMMPfam_Hyccin CFLAR 8837 genome.wustl.edu 37 2 202000975 202000975 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000395148 +1 known p.I193S 0.000 34 0% 39 43.6% 7 14.2% benign(0.001) tolerated(0.1) neutral(0.286) NULL CFLAR 8837 genome.wustl.edu 37 2 202006136 202006136 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001127184.1 +1 validated p.L216I 0.000 346 0% 442 15.6% 1 0% benign(0.265) deleterious(0) deleterious(0.472) NULL CASP10 843 genome.wustl.edu 37 2 202050564 202050564 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032977.3 +1 reviewed p.E22* 0.000 52 0% 90 31.1% 0 - - - - HMMPfam_DED,HMMSmart_DED,superfamily_DEATH_like CASP8 841 genome.wustl.edu 37 2 202131364 202131364 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001080125.1 +1 reviewed p.R111I 0.456 120 0% 172 43% 6 50% possibly_damaging(0.832) deleterious(0.02) deleterious(0.700) HMMPfam_DED,HMMSmart_SM00031,superfamily_DEATH domain CASP8 841 genome.wustl.edu 37 2 202131412 202131412 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001080125.1 +1 reviewed p.R127Q 0.037 127 0% 145 41.4% 10 20% probably_damaging(0.994) tolerated(0.33) deleterious(0.476) HMMPfam_DED,HMMSmart_SM00031,superfamily_DEATH domain CASP8 841 genome.wustl.edu 37 2 202149963 202149963 + Silent SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000444430 +1 known p.C189R 0.912 66 0% 85 16.5% 36 27.7% - - - HMMPfam_Peptidase_C14,HMMSmart_SM00115,superfamily_Caspase-like ALS2CR11 151254 genome.wustl.edu 37 2 202357246 202357246 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000439140 -1 known p.S1273Y 0.008 99 0% 134 41.8% 0 - probably_damaging(0.983) - - NULL MPP4 58538 genome.wustl.edu 37 2 202521071 202521071 + Missense_Mutation SNP G G A rs141592467 by1000genomes TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_033066.2 -1 reviewed p.R384C 1.000 14 0% 24 20.8% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL MPP4 58538 genome.wustl.edu 37 2 202547556 202547556 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_033066.2 -1 reviewed p.L220M 1.000 141 0% 194 36.1% 0 - possibly_damaging(0.916) tolerated(0.09) deleterious(0.663) superfamily_SH3-domain,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like FZD7 8324 genome.wustl.edu 37 2 202900492 202900492 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003507.1 +1 reviewed p.I374 1.000 46 0% 53 49.1% 0 - - - - HMMPfam_Frizzled BMPR2 659 genome.wustl.edu 37 2 203420177 203420177 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001204.6 +1 reviewed p.R597* 1.000 176 0% 230 43.9% 25 24% - - - NULL BMPR2 659 genome.wustl.edu 37 2 203420415 203420415 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001204.6 +1 reviewed p.N676S 1.000 113 0% 107 37.4% 8 12.5% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL WDR12 55759 genome.wustl.edu 37 2 203762044 203762044 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018256.3 -1 reviewed p.D145Y 1.000 291 0% 327 40.4% 23 34.7% possibly_damaging(0.739) tolerated(0.06) deleterious(0.593) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 ALS2CR8 79800 genome.wustl.edu 37 2 203846925 203846925 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001104586.1 +1 validated p.S607Y 1.000 151 0% 213 47.9% 0 - possibly_damaging(0.906) deleterious(0.01) deleterious(0.765) NULL NBEAL1 65065 genome.wustl.edu 37 2 203995185 203995185 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001114132.1 +1 validated p.E1155* 1.000 183 0% 265 46% 0 - - - - NULL NBEAL1 65065 genome.wustl.edu 37 2 203996722 203996722 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001114132.1 +1 validated p.T1168 0.722 172 0% 199 50.3% 1 100% - - - NULL NBEAL1 65065 genome.wustl.edu 37 2 204001463 204001463 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001114132.1 +1 validated p.E1482* 1.000 122 0% 210 44.8% 1 0% - - - NULL CYP20A1 57404 genome.wustl.edu 37 2 204144807 204144807 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_177538.2 +1 reviewed p.S274Y 1.000 340 0% 390 42.8% 3 33.3% possibly_damaging(0.731) tolerated(0.07) deleterious(0.586) superfamily_Cytochrome_P450 ABI2 10152 genome.wustl.edu 37 2 204231627 204231627 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005759.4 +1 validated p.E49* 1.000 284 0% 286 46.9% 8 25% - - - NULL EEF1B2 1933 genome.wustl.edu 37 2 207027283 207027283 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001037663.1 +1 reviewed p.A156 0.981 197 0.5% 253 46.2% 609 41.2% - - - HMMPfam_EF1_GNE,superfamily_eEF-1beta-like ZDBF2 57683 genome.wustl.edu 37 2 207170392 207170392 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020923.1 +1 validated p.E380D 0.000 207 0% 285 43.9% 0 - benign(0.008) tolerated(0.48) neutral(0.011) NULL ZDBF2 57683 genome.wustl.edu 37 2 207172910 207172910 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020923.1 +1 validated p.E1220* 0.131 75 0% 103 49.5% 0 - - - - NULL ZDBF2 57683 genome.wustl.edu 37 2 207174854 207174854 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020923.1 +1 validated p.V1868F 0.000 192 0% 238 46.2% 0 - possibly_damaging(0.824) deleterious(0.03) deleterious(0.676) NULL ZDBF2 57683 genome.wustl.edu 37 2 207175201 207175201 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020923.1 +1 validated p.K1983N 0.050 114 0% 136 46.3% 0 - probably_damaging(0.988) deleterious(0) deleterious(0.882) NULL ZDBF2 57683 genome.wustl.edu 37 2 207175936 207175936 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020923.1 +1 validated p.S2228 0.152 69 0% 108 45.4% 0 - - - - NULL ZDBF2 57683 genome.wustl.edu 37 2 207176043 207176043 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020923.1 +1 validated p.R2264I 0.005 77 0% 115 34.8% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL LOC200726 200726 genome.wustl.edu 37 2 207509209 207509209 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001102659.1 +1 predicted p.E83D 1.000 174 0% 240 43.3% 0 - - - - NULL MDH1B 130752 genome.wustl.edu 37 2 207625718 207625718 + Silent SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001039845.1 -1 validated p.Y14 0.999 197 0% 254 47.2% 0 - - - - NULL PIKFYVE 200576 genome.wustl.edu 37 2 209204755 209204755 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015040.3 +1 reviewed p.L1611 1.000 223 0% 273 16.1% 6 0% - - - NULL PIKFYVE 200576 genome.wustl.edu 37 2 209217386 209217386 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015040.3 +1 reviewed p.T1908 0.775 142 0% 166 47.6% 1 100% - - - HMMPfam_PIP5K,HMMSmart_SM00330,superfamily_SAICAR synthase-like UNC80 285175 genome.wustl.edu 37 2 210802262 210802262 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032504.1 +1 validated p.R2059* 1.000 360 0.3% 461 12.4% 0 - - - - NULL MYL1 4632 genome.wustl.edu 37 2 211163270 211163270 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_079420.2 -1 reviewed p.L60I 1.000 148 0% 163 46.6% 0 - benign(0.005) tolerated(0.15) neutral(0.241) HMMSmart_SM00054,superfamily_EF-hand CPS1 1373 genome.wustl.edu 37 2 211464185 211464185 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001122633.1 +1 reviewed p.Y489* 1.000 155 0% 220 26.4% 0 - - - - HMMPfam_CPSase_L_chain,superfamily_PreATP-grasp domain CPS1 1373 genome.wustl.edu 37 2 211503904 211503904 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001122633.1 +1 reviewed p.V960L 0.996 182 0% 233 47.2% 1 0% benign(0.009) tolerated(0.75) neutral(0.002) HMMPfam_CPSase_L_D3,superfamily_Carbamoyl phosphate synthetase large subunit connection domain CPS1 1373 genome.wustl.edu 37 2 211525259 211525259 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001122633.1 +1 reviewed p.K1275N 1.000 390 0% 501 43.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Glutathione synthetase ATP-binding domain-like CPS1 1373 genome.wustl.edu 37 2 211541813 211541813 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001122633.1 +1 reviewed p.R1459W 1.000 294 0% 453 44.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MGS,superfamily_Methylglyoxal synthase-like ERBB4 2066 genome.wustl.edu 37 2 212285327 212285327 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005235.2 -1 reviewed p.R992C 1.000 173 0% 238 43.3% 1 100% benign(0.156) deleterious(0.01) neutral(0.420) superfamily_Protein kinase-like (PK-like) SPAG16 79582 genome.wustl.edu 37 2 215013945 215013945 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024532.3 +1 validated p.D559N 1.000 242 0% 317 40.4% 0 - probably_damaging(0.988) tolerated(0.24) deleterious(0.475) HMMSmart_SM00320,superfamily_WD40 repeat-like ABCA12 26154 genome.wustl.edu 37 2 215807685 215807685 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_173076.2 -1 reviewed p.F2467C 1.000 173 0% 285 41.1% 4 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases ABCA12 26154 genome.wustl.edu 37 2 215846949 215846949 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_173076.2 -1 reviewed p.R1514H 1.000 186 0% 298 19.8% 4 25% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases ATIC 471 genome.wustl.edu 37 2 216211586 216211586 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000426233 +1 known p.D144N 0.323 213 0% 267 41.9% 147 41.4% - - - superfamily_AICAR transformylase domain of bifunctional purine biosynthesis enzyme ATIC FN1 2335 genome.wustl.edu 37 2 216236733 216236733 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_212482.1 -1 reviewed p.E2205K 1.000 339 0% 431 38.7% 95 0% benign(0.059) tolerated(0.08) neutral(0.304) HMMSmart_SM00060 FN1 2335 genome.wustl.edu 37 2 216241231 216241231 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_212482.1 -1 reviewed p.Y1959 0.999 124 0% 205 50.2% 193 0% - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III FN1 2335 genome.wustl.edu 37 2 216248174 216248174 + Missense_Mutation SNP C C T rs140153061 by1000genomes TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_212482.1 -1 reviewed p.D1643N 0.998 216 0% 294 48% 67 2.9% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III FN1 2335 genome.wustl.edu 37 2 216259388 216259388 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_212482.1 -1 reviewed p.S1220Y 0.571 220 0% 300 44% 26 0% possibly_damaging(0.761) deleterious(0.01) deleterious(0.688) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III FN1 2335 genome.wustl.edu 37 2 216273042 216273042 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_212482.1 -1 reviewed p.L803M 1.000 209 0% 245 40.8% 44 0% probably_damaging(0.986) deleterious(0.01) deleterious(0.840) superfamily_Fibronectin type III FN1 2335 genome.wustl.edu 37 2 216296577 216296577 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_212482.1 -1 reviewed p.E176* 1.000 222 0% 313 39.3% 37 0% - - - HMMPfam_fn1,HMMSmart_SM00058,PatternScan_FN1_1,superfamily_Fibronectin type I module TMEM169 92691 genome.wustl.edu 37 2 216965056 216965056 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001142310.1 +1 validated p.A229T 1.000 216 0% 245 49.8% 0 - benign(0.009) tolerated(0.16) neutral(0.060) NULL TNS1 7145 genome.wustl.edu 37 2 218745638 218745638 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_022648.4 -1 reviewed p.R346Q 0.192 93 0% 133 42.1% 10 30% benign(0.137) tolerated(0.28) neutral(0.043) NULL RUFY4 285180 genome.wustl.edu 37 2 218954022 218954022 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_198483.3 +1 validated p.A344D 0.908 134 0% 137 46.7% 0 - probably_damaging(0.979) deleterious(0) deleterious(0.867) HMMPfam_FYVE,superfamily_FYVE/PHD zinc finger AAMP 14 genome.wustl.edu 37 2 219134243 219134243 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001087.3 -1 reviewed p.E46K 1.000 87 0% 100 52% 102 45% unknown(0) tolerated(0.07) - superfamily_WD40_like PNKD 25953 genome.wustl.edu 37 2 219136109 219136109 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015488.4 +1 reviewed p.L25I 1.000 74 0% 78 44.9% 17 29.4% possibly_damaging(0.942) deleterious(0) deleterious(0.832) NULL C2orf62 375307 genome.wustl.edu 37 2 219222760 219222760 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_198559.1 +1 predicted p.G107D 0.972 75 0% 76 47.4% 1 0% possibly_damaging(0.95) deleterious(0.02) deleterious(0.776) NULL USP37 57695 genome.wustl.edu 37 2 219362522 219362522 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020935.2 -1 validated p.L406V 1.000 266 0% 355 45.9% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_UCH,superfamily_Cysteine proteinases ZNF142 7701 genome.wustl.edu 37 2 219503373 219503373 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001105537.1 -1 validated p.R1585C 1.000 48 0% 77 37.7% 126 38% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers TTLL4 9654 genome.wustl.edu 37 2 219603065 219603065 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014640.4 +1 validated p.F222L 1.000 30 0% 43 44.2% 7 85.7% probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL TTLL4 9654 genome.wustl.edu 37 2 219618318 219618318 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000417855 +1 known p.R114Q 0.001 86 0% 168 44.6% 16 25% - - - NULL CNPPD1 27013 genome.wustl.edu 37 2 220039646 220039646 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000451647 -1 known p.L149F 0.000 133 0% 213 23.5% 0 - unknown(0) - - NULL ANKZF1 55139 genome.wustl.edu 37 2 220096687 220096687 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000416565 +1 known p.S44F 0.108 187 0% 258 40.3% 5 60% unknown(0) - - NULL GLB1L 79411 genome.wustl.edu 37 2 220104727 220104727 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024506.3 -1 provisional p.K212N 0.923 77 0% 117 38.5% 2 0% benign(0) tolerated(0.34) neutral(0.023) HMMPfam_Glyco_hydro_35,superfamily_(Trans)glycosidases DNAJB2 3300 genome.wustl.edu 37 2 220147859 220147859 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006736.5 +1 validated p.F150L 0.961 185 0% 238 42% 81 39.5% benign(0.287) tolerated(0.09) neutral(0.385) NULL PTPRN 5798 genome.wustl.edu 37 2 220166420 220166420 + Missense_Mutation SNP G G A rs146577812 by1000genomes TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002846.2 -1 reviewed p.A339V 0.990 20 0% 19 31.6% 0 - benign(0.027) tolerated(0.32) neutral(0.026) NULL ASIC4 55515 genome.wustl.edu 37 2 220402427 220402427 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018674.4 +1 reviewed p.S619Y 1.000 25 0% 39 61.5% 0 - possibly_damaging(0.894) deleterious(0.02) deleterious(0.735) NULL STK11IP 114790 genome.wustl.edu 37 2 220470430 220470430 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000456909 +1 known p.R240Q 1.000 140 0% 142 48.6% 4 50% benign(0.319) tolerated(0.08) neutral(0.399) superfamily_Outer arm dynein light chain 1 SLC4A3 6508 genome.wustl.edu 37 2 220501492 220501492 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_201574.2 +1 validated p.E838K 1.000 251 0% 339 49.6% 15 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HCO3_cotransp SLC4A3 6508 genome.wustl.edu 37 2 220502412 220502412 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_201574.2 +1 validated p.G909D 0.018 47 0% 51 54.9% 10 30% benign(0.055) tolerated(0.33) neutral(0.028) HMMPfam_HCO3_cotransp EPHA4 2043 genome.wustl.edu 37 2 222290781 222290781 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004438.3 -1 reviewed p.M976I 1.000 242 0% 323 42.1% 2 100% benign(0.002) tolerated(0.21) neutral(0.044) superfamily_SAM_homology EPHA4 2043 genome.wustl.edu 37 2 222291271 222291271 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004438.3 -1 reviewed p.L920P 1.000 76 0% 97 46.4% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SAM,superfamily_SAM_homology,HMMPfam_SAM_2 EPHA4 2043 genome.wustl.edu 37 2 222347302 222347302 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004438.3 -1 reviewed p.N363S 0.999 150 0% 198 42.4% 1 0% benign(0.002) tolerated(0.63) neutral(0.004) HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like FARSB 10056 genome.wustl.edu 37 2 223494887 223494887 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005687.3 -1 reviewed p.I265V 1.000 218 0% 242 38.8% 10 20% benign(0) tolerated(0.28) neutral(0.032) HMMPfam_B3_4,superfamily_B3/B4 domain of PheRS PheT AP1S3 130340 genome.wustl.edu 37 2 224642539 224642539 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001039569.1 -1 validated p.Q17H 1.000 131 0% 130 10% 6 0% benign(0.347) tolerated(0.12) neutral(0.370) HMMPfam_Clat_adaptor_s,superfamily_SNARE-like MRPL44 65080 genome.wustl.edu 37 2 224824263 224824263 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_022915.3 +1 reviewed p.P64 0.985 73 0% 121 20.7% 13 15.3% - - - superfamily_RNase_III DOCK10 55619 genome.wustl.edu 37 2 225750387 225750387 + Splice_Site SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014689.2 -1 validated e7+1 1.000 258 0.4% 308 44.5% 0 - - - - - RHBDD1 84236 genome.wustl.edu 37 2 227729609 227729609 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032276.3 +1 validated p.R67H 1.000 190 0% 261 41.8% 4 25% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Rhomboid COL4A3 1285 genome.wustl.edu 37 2 228104927 228104927 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000091.3 +1 reviewed p.L71 0.107 91 0% 103 22.3% 0 - - - - HMMPfam_Collagen WDR69 164781 genome.wustl.edu 37 2 228756017 228756017 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_178821.1 +1 provisional p.K102T 1.000 402 0% 499 46.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 DNER 92737 genome.wustl.edu 37 2 230453132 230453132 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_139072.3 -1 validated p.V220L 1.000 200 0.5% 272 38.6% 1 0% probably_damaging(0.987) tolerated(0.21) deleterious(0.480) NULL TRIP12 9320 genome.wustl.edu 37 2 230723928 230723928 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004238.1 -1 provisional p.S154N 0.996 159 0% 167 41.9% 9 44.4% possibly_damaging(0.488) deleterious(0) deleterious(0.607) NULL SLC16A14 151473 genome.wustl.edu 37 2 230910392 230910392 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000457406 -1 known p.D484Y 0.005 15 0% 23 47.8% 0 - probably_damaging(0.988) - - NULL ITM2C 81618 genome.wustl.edu 37 2 231741620 231741620 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_030926.4 +1 validated p.E167K 0.999 97 0% 137 43.1% 845 33.4% probably_damaging(0.996) deleterious(0.02) deleterious(0.845) HMMPfam_BRICHOS ALPPL2 251 genome.wustl.edu 37 2 233274362 233274362 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_031313.2 +1 reviewed p.A460V 1.000 19 0% 24 45.8% 45 57.7% probably_damaging(0.971) deleterious(0) deleterious(0.857) HMMPfam_Alk_phosphatase,HMMSmart_alkPPc,superfamily_Alkaline_phosphatase_core GIGYF2 26058 genome.wustl.edu 37 2 233651868 233651868 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001103147.1 +1 reviewed p.N203H 1.000 221 0% 280 40.7% 12 33.3% probably_damaging(0.996) tolerated(0.14) deleterious(0.711) NULL NGEF 25791 genome.wustl.edu 37 2 233744230 233744230 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_019850.2 -1 validated p.R701H 1.000 93 0% 112 50.9% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL INPP5D 3635 genome.wustl.edu 37 2 234098502 234098502 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000359570 +1 known p.P789S 1.000 317 0% 449 45.4% 6 33.3% probably_damaging(1) deleterious(0.05) deleterious(0.845) NULL ATG16L1 55054 genome.wustl.edu 37 2 234173758 234173758 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_030803.6 +1 validated p.R204W 0.998 104 0% 96 39.6% 2 50% benign(0.016) deleterious(0.03) neutral(0.365) superfamily_WD40 repeat-like,HMMPfam_ATG16 ATG16L1 55054 genome.wustl.edu 37 2 234191391 234191391 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_030803.6 +1 validated p.R399* 0.999 284 0% 374 42% 15 20% - - - HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 DGKD 8527 genome.wustl.edu 37 2 234296985 234296985 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152879.2 +1 reviewed p.R80Q 1.000 113 0% 120 28.3% 4 25% probably_damaging(0.998) tolerated(0.45) deleterious(0.486) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like DGKD 8527 genome.wustl.edu 37 2 234358766 234358766 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152879.2 +1 reviewed p.S676N 1.000 27 0% 53 28.3% 3 33.3% benign(0.132) tolerated(0.21) neutral(0.055) NULL UGT1A3 54659 genome.wustl.edu 37 2 234638459 234638459 + Silent SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_019093.2 +1 reviewed p.A229 0.000 448 0% 591 47.4% 0 - - - - HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase HJURP 55355 genome.wustl.edu 37 2 234750256 234750256 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018410.3 -1 validated p.F390 0.000 184 0% 222 15.3% 8 12.5% - - - NULL TRPM8 79054 genome.wustl.edu 37 2 234851300 234851300 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024080.4 +1 validated p.R203G 1.000 286 0% 319 44.8% 0 - benign(0.001) tolerated(0.38) neutral(0.018) NULL SH3BP4 23677 genome.wustl.edu 37 2 235949672 235949672 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014521.2 +1 reviewed p.T87A 0.971 138 0% 195 43.1% 112 45.5% benign(0.159) tolerated(0.17) neutral(0.073) HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain AGAP1 116987 genome.wustl.edu 37 2 236957747 236957747 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001037131.1 +1 validated p.E646K 1.000 181 0% 257 42.4% 13 38.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ArfGap,HMMSmart_SM00105,superfamily_Pyk2-associated protein beta ARF-GAP domain GBX2 2637 genome.wustl.edu 37 2 237074656 237074656 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001485.2 -1 validated p.E316D 1.000 122 0% 160 41.9% 0 - possibly_damaging(0.506) tolerated(0.05) deleterious(0.515) NULL COL6A3 1293 genome.wustl.edu 37 2 238296665 238296665 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004369.3 -1 reviewed p.R291I 0.961 79 0% 116 50.9% 1 0% unknown(0) - - HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like LRRFIP1 9208 genome.wustl.edu 37 2 238661956 238661956 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001137552.1 +1 validated p.S163Y 1.000 77 0% 110 36.4% 30 60% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_DUF2051 RBM44 375316 genome.wustl.edu 37 2 238726400 238726400 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001080504.2 +1 validated p.K281Q 0.000 84 0% 110 42.7% 0 - benign(0.323) tolerated(0.21) neutral(0.145) NULL PASK 23178 genome.wustl.edu 37 2 242054766 242054766 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015148.2 -1 validated p.K1045N 0.231 270 0% 325 44% 10 10% benign(0.05) deleterious(0.04) neutral(0.352) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase ANO7 50636 genome.wustl.edu 37 2 242148759 242148759 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001001891.3 +1 validated p.W433C 1.000 21 0% 24 41.7% 2 100% probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL HDLBP 3069 genome.wustl.edu 37 2 242187665 242187665 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005336.3 -1 validated p.F537L 0.999 252 0% 273 34.8% 312 41.3% probably_damaging(0.995) deleterious(0.03) deleterious(0.822) HMMSmart_KH,HMMPfam_KH_1,superfamily_SSF54791 CHL1 10752 genome.wustl.edu 37 3 396342 396342 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006614.2 +1 reviewed p.K351N 1.000 114 0% 121 38.8% 0 - possibly_damaging(0.869) tolerated(0.48) neutral(0.348) superfamily_Immunoglobulin CHL1 10752 genome.wustl.edu 37 3 403464 403464 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006614.2 +1 reviewed p.F463L 0.975 305 0% 426 43.2% 0 - benign(0.004) tolerated(0.09) neutral(0.296) HMMSmart_SM00408,HMMSmart_SM00409,superfamily_Immunoglobulin CNTN6 27255 genome.wustl.edu 37 3 1394015 1394015 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014461.2 +1 reviewed p.L458I 0.001 125 0% 155 32.3% 0 - benign(0.002) tolerated(1) - HMMSmart_IGc2,HMMPfam_I-set,superfamily_SSF48726 CNTN6 27255 genome.wustl.edu 37 3 1424809 1424809 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014461.2 +1 reviewed p.E784* 0.636 176 0% 270 43.3% 0 - - - - HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like CNTN6 27255 genome.wustl.edu 37 3 1427322 1427322 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014461.2 +1 reviewed p.E849* 0.909 232 0% 292 46.2% 0 - - - - HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like CNTN4 152330 genome.wustl.edu 37 3 3097837 3097837 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_175607.1 +1 reviewed p.S1005L 0.990 217 0% 343 47.8% 1 0% benign(0) tolerated(0.24) neutral(0.037) NULL IL5RA 3568 genome.wustl.edu 37 3 3139688 3139688 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000564.3 -1 reviewed p.R192I 0.782 256 0% 300 51% 0 - possibly_damaging(0.64) deleterious(0.02) deleterious(0.607) superfamily_Fibronectin type III IL5RA 3568 genome.wustl.edu 37 3 3146654 3146654 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000564.3 -1 reviewed p.A5 0.000 273 0.4% 290 45.2% 2 0% - - - NULL TRNT1 51095 genome.wustl.edu 37 3 3188271 3188271 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_182916.2 +1 validated p.H256N 1.000 351 0% 405 44.2% 2 0% benign(0.247) tolerated(0.5) neutral(0.035) superfamily_Poly A polymerase C-terminal region-like LRRN1 57633 genome.wustl.edu 37 3 3887578 3887578 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020873.5 +1 validated p.S418L 0.224 122 0.8% 146 47.3% 5 0% benign(0) tolerated(0.73) neutral(0.002) HMMPfam_LRRCT,HMMSmart_LRRCT ITPR1 3708 genome.wustl.edu 37 3 4687105 4687105 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001099952.2 +1 reviewed p.I220R 0.997 217 0% 279 45.2% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ins145_P3_rec,HMMSmart_SM00472 ITPR1 3708 genome.wustl.edu 37 3 4735356 4735356 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001099952.2 +1 reviewed p.I1395 1.000 50 0% 85 37.6% 5 40% - - - NULL BHLHE40 8553 genome.wustl.edu 37 3 5024644 5024644 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003670.2 +1 reviewed p.S169L 0.929 45 0% 50 40% 100 49% benign(0.268) tolerated(0.09) neutral(0.325) HMMPfam_Hairy_orange,HMMSmart_SM00511 BHLHE40 8553 genome.wustl.edu 37 3 5025196 5025197 + Frame_Shift_Ins INS - - AA novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003670.2 +1 reviewed p.G354fs 0.989:0.000 - - - - - - - - - NULL GRM7 2917 genome.wustl.edu 37 3 7188172 7188172 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_181874.2 +1 reviewed p.E185K 1.000 116 0% 151 45.7% 0 - probably_damaging(0.999) tolerated(0.43) deleterious(0.504) HMMPfam_ANF_receptor,superfamily_SSF53822 SRGAP3 9901 genome.wustl.edu 37 3 9101943 9101943 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014850.2 -1 validated p.Y258C 1.000 324 0.3% 417 43.6% 24 45.8% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SETD5 55209 genome.wustl.edu 37 3 9506277 9506277 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001080517.1 +1 provisional p.R882Q 1.000 158 0% 208 41.3% 57 31.5% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL BRPF1 7862 genome.wustl.edu 37 3 9783109 9783109 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001003694.1 +1 reviewed p.L614F 1.000 76 0% 83 48.2% 8 12.5% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL FANCD2 2177 genome.wustl.edu 37 3 10081522 10081522 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_033084.3 +1 reviewed p.E230* 1.000 77 0% 109 34.9% 3 0% - - - NULL VHL 7428 genome.wustl.edu 37 3 10191620 10191620 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000551.2 +1 reviewed p.R205C 0.951 70 1.4% 95 10.5% 51 9.8% probably_damaging(0.989) deleterious(0.01) deleterious(0.845) HMMPfam_VHL,superfamily_VHL IRAK2 3656 genome.wustl.edu 37 3 10242114 10242114 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001570.3 +1 reviewed p.E113D 0.009 79 0% 98 28.6% 0 - benign(0.011) tolerated(0.44) neutral(0.013) NULL TATDN2 9797 genome.wustl.edu 37 3 10320103 10320103 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014760.3 +1 validated p.R701I 1.000 46 0% 88 56.8% 47 57.4% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_TatD_DNase,PatternScan_TATD_3,superfamily_SSF51556 SLC6A1 6529 genome.wustl.edu 37 3 11060307 11060307 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003042.3 +1 validated p.L132 0.995 199 0% 231 43.7% 0 - - - - HMMPfam_SNF SYN2 6854 genome.wustl.edu 37 3 12182196 12182196 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000426379 +1 known p.S150* 1.000 327 0% 348 42.8% 0 - - - - NULL SYN2 6854 genome.wustl.edu 37 3 12211393 12211393 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000341648 +1 known p.T363I 1.000 34 0% 56 51.8% 0 - probably_damaging(0.98) tolerated(0.16) deleterious(0.483) NULL NUP210 23225 genome.wustl.edu 37 3 13417924 13417924 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024923.2 -1 reviewed p.R387Q 0.999 80 0% 102 43.1% 54 35.1% probably_damaging(1) tolerated(0.43) deleterious(0.513) NULL FBLN2 2199 genome.wustl.edu 37 3 13612435 13612435 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001004019.1 +1 reviewed p.E194K 0.998 25 0% 38 44.7% 8 25% probably_damaging(0.955) deleterious(0) deleterious(0.843) NULL FBLN2 2199 genome.wustl.edu 37 3 13655632 13655632 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001004019.1 +1 reviewed p.R566Q 0.950 24 0% 31 45.2% 13 23% possibly_damaging(0.853) deleterious(0.01) deleterious(0.734) NULL WNT7A 7476 genome.wustl.edu 37 3 13896136 13896136 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004625.3 -1 reviewed p.D155N 1.000 48 0% 49 46.9% 108 45.3% possibly_damaging(0.514) tolerated(0.98) neutral(0.173) HMMPfam_wnt,HMMSmart_SM00097 LSM3 27258 genome.wustl.edu 37 3 14223156 14223156 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000306024 +1 known p.R40* 0.997 93 0% 159 42.8% 49 32.6% - - - HMMPfam_LSM,HMMSmart_SM00651,superfamily_Sm-like ribonucleoproteins FGD5 152273 genome.wustl.edu 37 3 14860648 14860648 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152536.3 +1 validated p.S24G 0.093 55 0% 89 11.2% 4 0% possibly_damaging(0.458) deleterious(0) deleterious(0.595) NULL FGD5 152273 genome.wustl.edu 37 3 14861952 14861952 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152536.3 +1 validated p.S458 0.000 25 0% 38 50% 1 0% - - - NULL FGD5 152273 genome.wustl.edu 37 3 14940274 14940274 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152536.3 +1 validated p.A1032V 0.635 55 0% 76 39.5% 5 0% benign(0) tolerated(0.36) neutral(0.020) HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) NR2C2 7182 genome.wustl.edu 37 3 15064783 15064783 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003298.3 +1 validated p.I230 1.000 136 0% 137 41.6% 2 50% - - - superfamily_Nuclear receptor ligand-binding domain,superfamily_Glucocorticoid receptor-like (DNA-binding domain) MRPS25 64432 genome.wustl.edu 37 3 15094075 15094075 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_022497.3 -1 reviewed p.R132Q 0.728 100 0% 121 40.5% 54 38.8% unknown(0) - - NULL MIR563 693148 genome.wustl.edu 37 3 15915284 15915284 + RNA SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000385080 +1 known NULL 0.320 293 0% 424 44.3% 1 100% - - - - RFTN1 23180 genome.wustl.edu 37 3 16399520 16399520 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015150.1 -1 validated p.I355 1.000 177 0% 223 23.3% 12 0% - - - NULL PLCL2 23228 genome.wustl.edu 37 3 17052909 17052909 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015184.5 +1 validated p.D565Y 1.000 85 0% 111 45.9% 3 66.6% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_PI-PLC-Y,HMMSmart_PLCYc,superfamily_PLC-like_Pdiesterase_TIM-brl SATB1 6304 genome.wustl.edu 37 3 18438719 18438719 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001131010.1 -1 validated p.E235* 1.000 502 0% 682 43.3% 11 63.6% - - - NULL KCNH8 131096 genome.wustl.edu 37 3 19492756 19492756 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_144633.2 +1 reviewed p.S562Y 1.000 159 0% 233 45.1% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMSmart_cNMP,superfamily_cNMP_binding KCNH8 131096 genome.wustl.edu 37 3 19556906 19556906 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_144633.2 +1 reviewed p.S843Y 1.000 163 0% 185 43.2% 0 - possibly_damaging(0.455) tolerated(0.2) neutral(0.198) NULL KCNH8 131096 genome.wustl.edu 37 3 19575403 19575403 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_144633.2 +1 reviewed p.L1046I 1.000 147 0% 231 44.6% 0 - probably_damaging(0.995) tolerated(0.32) deleterious(0.482) NULL KAT2B 8850 genome.wustl.edu 37 3 20187830 20187830 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003884.4 +1 reviewed p.R676I 1.000 261 0% 350 41.7% 0 - probably_damaging(0.956) deleterious(0.01) deleterious(0.805) NULL SGOL1 151648 genome.wustl.edu 37 3 20219761 20219761 + Splice_Site SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001012410.2 -1 provisional e3+2 1.000 153 0% 211 44.5% 0 - - - - - UBE2E2 7325 genome.wustl.edu 37 3 23250267 23250267 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152653.3 +1 validated p.S26I 0.999 174 0% 253 40.3% 8 12.5% unknown(0) deleterious(0.02) - NULL NKIRAS1 28512 genome.wustl.edu 37 3 23934704 23934704 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020345.3 -1 validated p.R154Q 0.984 369 0% 432 39.8% 5 40% probably_damaging(0.997) deleterious(0) deleterious(0.911) superfamily_SSF52540 RARB 5915 genome.wustl.edu 37 3 25637918 25637918 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000965.3 +1 reviewed p.E386 1.000 95 0% 127 47.2% 3 0% - - - HMMPfam_Hormone_recep,superfamily_Str_ncl_receptor TOP2B 7155 genome.wustl.edu 37 3 25639801 25639801 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001068.2 -1 reviewed p.N1621K 1.000 352 0% 443 40.2% 51 47% possibly_damaging(0.911) deleterious(0) deleterious(0.807) NULL TOP2B 7155 genome.wustl.edu 37 3 25648860 25648860 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001068.2 -1 reviewed p.R1362I 1.000 194 0% 227 45.8% 69 46.3% possibly_damaging(0.942) tolerated(0.05) deleterious(0.732) NULL NGLY1 55768 genome.wustl.edu 37 3 25781078 25781078 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018297.3 -1 reviewed p.R291* 1.000 73 0% 85 32.9% 22 4.5% - - - HMMPfam_Transglut_core,superfamily_Cysteine proteinases OXSM 54995 genome.wustl.edu 37 3 25832608 25832608 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017897.2 +1 reviewed p.G33R 0.186 140 0% 171 43.3% 6 50% benign(0.002) tolerated(0.1) neutral(0.286) NULL TGFBR2 7048 genome.wustl.edu 37 3 30715678 30715678 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001024847.2 +1 reviewed p.D471N 1.000 176 0% 238 42.4% 47 31.9% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase OSBPL10 114884 genome.wustl.edu 37 3 31871543 31871543 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017784.4 -1 reviewed p.E240K 1.000 74 0% 86 38.4% 6 83.3% possibly_damaging(0.692) deleterious(0.01) deleterious(0.653) NULL ZNF860 344787 genome.wustl.edu 37 3 32031883 32031883 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001137674.1 +1 provisional p.R438C 0.000 267 0% 325 44% 0 - possibly_damaging(0.925) tolerated(0.23) neutral(0.415) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 CMTM6 54918 genome.wustl.edu 37 3 32533224 32533224 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017801.2 -1 reviewed p.D98G 0.205 193 0% 240 35.8% 12 50% probably_damaging(0.998) tolerated(0.66) deleterious(0.477) HMMPfam_MARVEL CCR4 1233 genome.wustl.edu 37 3 32995122 32995122 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005508.4 +1 reviewed p.L70F 1.000 522 0% 582 44.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like FBXL2 25827 genome.wustl.edu 37 3 33425651 33425651 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_012157.3 +1 reviewed p.Y374 0.923 47 0% 57 42.1% 12 25% - - - superfamily_SSF52047 TRANK1 9881 genome.wustl.edu 37 3 36893783 36893783 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014831.2 -1 provisional p.E941* 1.000 165 0% 209 16.3% 1 0% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases TRANK1 9881 genome.wustl.edu 37 3 36897296 36897296 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014831.2 -1 provisional p.K712T 0.000 245 0% 311 18% 5 20% benign(0.001) tolerated(0.24) neutral(0.037) superfamily_P-loop containing nucleoside triphosphate hydrolases EPM2AIP1 9852 genome.wustl.edu 37 3 37033014 37033014 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014805.3 -1 reviewed p.E519* 0.995 167 0% 185 49.7% 1 0% - - - NULL MLH1 4292 genome.wustl.edu 37 3 37035138 37035138 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000249.3 +1 reviewed p.E34* 1.000 81 0% 87 47.1% 2 0% - - - HMMPfam_HATPase_c,HMMSmart_HATPase_c,superfamily_ATP_bd_ATPase LRRFIP2 9209 genome.wustl.edu 37 3 37095384 37095384 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006309.2 -1 validated p.E708D 1.000 138 0% 204 45.6% 90 47.7% probably_damaging(0.957) tolerated(0.26) neutral(0.434) NULL GOLGA4 2803 genome.wustl.edu 37 3 37367718 37367718 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002078.4 +1 reviewed p.K1447N 0.903 84 0% 80 43.8% 6 50% possibly_damaging(0.905) deleterious(0.02) deleterious(0.742) NULL ITGA9 3680 genome.wustl.edu 37 3 37565011 37565011 + Splice_Site SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002207.2 +1 reviewed e12-1 1.000 223 0% 280 43.2% 0 - - - - - ITGA9 3680 genome.wustl.edu 37 3 37818894 37818894 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002207.2 +1 reviewed p.E851D 1.000 306 0% 347 46.1% 4 0% benign(0) tolerated(0.74) neutral(0.002) HMMPfam_Integrin_alpha2,superfamily_SSF69179 VILL 50853 genome.wustl.edu 37 3 38045822 38045822 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015873.3 +1 reviewed p.E628K 1.000 57 0% 67 44.8% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00262,HMMPfam_Gelsolin,superfamily_Actin depolymerizing proteins PLCD1 5333 genome.wustl.edu 37 3 38052853 38052853 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001130964.1 -1 validated p.I235 0.996 37 0% 38 47.4% 26 42.3% - - - HMMPfam_efhand_like,superfamily_SSF47473 DLEC1 9940 genome.wustl.edu 37 3 38139080 38139080 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_007337.2 +1 reviewed p.I839 0.395 73 0% 122 50% 2 100% - - - NULL OXSR1 9943 genome.wustl.edu 37 3 38263123 38263123 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005109.2 +1 reviewed p.V182A 1.000 448 0% 591 40.3% 1 0% probably_damaging(0.999) tolerated(0.37) deleterious(0.509) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase OXSR1 9943 genome.wustl.edu 37 3 38284249 38284249 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005109.2 +1 reviewed p.E364* 1.000 408 0% 530 46% 4 25% - - - NULL XYLB 9942 genome.wustl.edu 37 3 38442384 38442384 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005108.3 +1 reviewed p.L481I 1.000 192 0% 282 42.2% 0 - benign(0.02) tolerated(0.29) neutral(0.030) HMMPfam_FGGY_C,superfamily_SSF53067 SCN10A 6336 genome.wustl.edu 37 3 38739416 38739416 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006514.2 -1 validated p.S1765 0.005 144 0% 140 45.7% 0 - - - - NULL SCN10A 6336 genome.wustl.edu 37 3 38755465 38755465 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006514.2 -1 validated p.R1263Q 1.000 84 0% 124 44.4% 0 - probably_damaging(0.959) tolerated(0.15) deleterious(0.643) HMMPfam_Ion_trans,superfamily_SSF81324 SCN10A 6336 genome.wustl.edu 37 3 38793901 38793901 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006514.2 -1 validated p.D522Y 0.988 97 0% 136 54.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL CSRNP1 64651 genome.wustl.edu 37 3 39185085 39185085 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_033027.3 -1 reviewed p.E411K 0.991 55 0% 75 42.7% 92 35.8% benign(0.042) tolerated(0.06) neutral(0.325) NULL XIRP1 165904 genome.wustl.edu 37 3 39226414 39226414 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_194293.2 -1 provisional p.A1508V 0.000 19 0% 12 58.3% 0 - possibly_damaging(0.942) tolerated(0.9) neutral(0.387) NULL ENTPD3 956 genome.wustl.edu 37 3 40456208 40456208 + Silent SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001248.2 +1 validated p.E158 0.023 349 0% 384 50.3% 10 60% - - - HMMPfam_GDA1_CD39 ZNF619 285267 genome.wustl.edu 37 3 40529118 40529118 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001145082.2 +1 validated p.E413* 0.000 136 0% 123 39.8% 6 50% - - - HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF620 253639 genome.wustl.edu 37 3 40558019 40558019 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_175888.2 +1 validated p.E312K 0.001 120 0% 131 41.2% 4 50% probably_damaging(0.984) deleterious(0.02) deleterious(0.814) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ULK4 54986 genome.wustl.edu 37 3 41746752 41746752 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017886.2 -1 validated p.A894T 1.000 185 0% 205 39.5% 3 33.3% probably_damaging(0.996) tolerated(0.54) deleterious(0.469) NULL LYZL4 131375 genome.wustl.edu 37 3 42445554 42445554 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_144634.2 -1 provisional p.E119* 0.052 396 0.3% 457 45.7% 0 - - - - HMMPfam_Lys,HMMSmart_LYZ1,superfamily_SSF53955 SEC22C 9117 genome.wustl.edu 37 3 42597456 42597456 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032970.2 -1 reviewed p.A226V 1.000 257 0% 272 16.5% 16 6.2% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL NKTR 4820 genome.wustl.edu 37 3 42661177 42661177 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005385.3 +1 reviewed p.S88L 1.000 489 0.8% 532 44.5% 1 100% possibly_damaging(0.825) deleterious(0) deleterious(0.757) HMMPfam_Pro_isomerase,superfamily_CSA_PPIase NKTR 4820 genome.wustl.edu 37 3 42679402 42679402 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005385.3 +1 reviewed p.S736A 0.995 125 0% 170 35.3% 25 48% unknown(0) deleterious(0.01) - NULL NKTR 4820 genome.wustl.edu 37 3 42679487 42679487 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005385.3 +1 reviewed p.K764T 0.001 117 0% 146 48.6% 10 40% unknown(0) deleterious(0) - NULL ZNF662 389114 genome.wustl.edu 37 3 42956284 42956284 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001134656.1 +1 validated p.R266I 0.904 164 0% 217 39.2% 0 - probably_damaging(0.973) tolerated(0.05) deleterious(0.760) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers C3orf77 375337 genome.wustl.edu 37 3 44284627 44284627 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001145030.1 +1 validated p.S210Y 1.000 33 0% 28 39.3% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL C3orf77 375337 genome.wustl.edu 37 3 44285704 44285704 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001145030.1 +1 validated p.S569Y 0.000 88 0% 100 43% 0 - possibly_damaging(0.563) tolerated(0.08) deleterious(0.492) NULL C3orf77 375337 genome.wustl.edu 37 3 44285720 44285720 + Silent SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001145030.1 +1 validated p.S574 0.417 95 0% 99 40.4% 0 - - - - NULL C3orf77 375337 genome.wustl.edu 37 3 44332375 44332375 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001145030.1 +1 validated p.S1265L 1.000 130 0% 151 43% 0 - possibly_damaging(0.806) tolerated(0.06) deleterious(0.626) NULL ZNF852 285346 genome.wustl.edu 37 3 44541145 44541145 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000436261 -1 known p.R375Q 0.997 81 0% 77 46.8% 1 100% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF167 55888 genome.wustl.edu 37 3 44612305 44612305 + Missense_Mutation SNP G G A rs147008651 by1000genomes TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018651.2 +1 validated p.R568Q 0.004 109 0% 167 42.5% 1 100% benign(0.006) tolerated(0.94) - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF660 285349 genome.wustl.edu 37 3 44635894 44635894 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_173658.1 +1 provisional p.R70Q 1.000 108 0% 178 50% 0 - probably_damaging(0.993) deleterious(0.01) deleterious(0.856) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF197 10168 genome.wustl.edu 37 3 44672649 44672649 + Silent SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006991.3 +1 reviewed p.A162 0.011 101 0% 159 50.3% 21 19% - - - NULL ZNF197 10168 genome.wustl.edu 37 3 44685650 44685650 + Frame_Shift_Del DEL A A - novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006991.3 +1 reviewed p.I1010fs 0.000 - - - - - - - - - NULL ZNF502 91392 genome.wustl.edu 37 3 44762917 44762917 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001134440.1 +1 validated p.R203I 0.028 96 1% 130 44.6% 0 - possibly_damaging(0.561) deleterious(0.03) deleterious(0.556) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 CXCR6 10663 genome.wustl.edu 37 3 45988384 45988384 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006564.1 +1 validated p.A137 0.994 143 0% 151 55% 4 25% - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like CCR1 1230 genome.wustl.edu 37 3 46245228 46245228 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001295.2 -1 reviewed p.R193* 0.000 107 0% 139 51.8% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like CCR2 729230 genome.wustl.edu 37 3 46399167 46399167 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001123041.2 +1 validated p.S50L 0.998 298 0% 371 42.3% 1 0% probably_damaging(1) deleterious(0.05) deleterious(0.845) superfamily_Family A G protein-coupled receptor-like LTF 4057 genome.wustl.edu 37 3 46491357 46491357 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002343.2 -1 reviewed p.Q348 0.005 109 0% 120 20% 0 - - - - HMMPfam_Transferrin,HMMSmart_TR_FER,superfamily_SSF53850 TMIE 259236 genome.wustl.edu 37 3 46750671 46750671 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_147196.2 +1 reviewed p.I89 0.149 74 0% 104 42.3% 0 - - - - NULL SETD2 29072 genome.wustl.edu 37 3 47162718 47162718 + Silent SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000445387 -1 known p.N770H 0.145 277 0% 305 43% 2 0% - - - NULL SETD2 29072 genome.wustl.edu 37 3 47164211 47164211 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014159.6 -1 reviewed p.E639K 1.000 117 0% 143 44.8% 0 - probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL KIF9 64147 genome.wustl.edu 37 3 47307353 47307353 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001134878.1 -1 validated p.V261 0.997 150 0% 222 38.3% 0 - - - - HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases PTPN23 25930 genome.wustl.edu 37 3 47450514 47450514 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015466.2 +1 validated p.R527C 1.000 28 0% 44 34.1% 114 43.8% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PTPN23 25930 genome.wustl.edu 37 3 47452102 47452102 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015466.2 +1 validated p.F938L 0.000 24 0% 29 41.4% 17 47% benign(0.278) tolerated(1) neutral(0.030) NULL PTPN23 25930 genome.wustl.edu 37 3 47452140 47452140 + Missense_Mutation SNP T T A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015466.2 +1 validated p.I951N 0.000 17 0% 18 38.9% 12 41.6% possibly_damaging(0.727) tolerated(0.14) deleterious(0.514) NULL DHX30 22907 genome.wustl.edu 37 3 47890983 47890983 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_138615.2 +1 reviewed p.N1044D 1.000 47 0% 66 36.4% 396 39.1% benign(0.137) tolerated(0.65) neutral(0.014) HMMPfam_DUF1605 MAP4 4134 genome.wustl.edu 37 3 47951832 47951832 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000426837 -1 known p.S1377I 0.651 19 0% 24 62.5% 3 100% benign(0.25) deleterious(0) deleterious(0.470) NULL MAP4 4134 genome.wustl.edu 37 3 47957500 47957500 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002375.4 -1 reviewed p.H606R 0.934 239 0% 288 48.6% 41 56% unknown(0) tolerated(0.15) - NULL MAP4 4134 genome.wustl.edu 37 3 47958045 47958045 + Silent SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002375.4 -1 reviewed p.I424 0.000 147 0% 216 45.8% 90 52.2% - - - NULL CDC25A 993 genome.wustl.edu 37 3 48228208 48228208 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001789.2 -1 reviewed p.E78K 0.993 177 0% 220 46.4% 3 33.3% probably_damaging(0.996) deleterious(0.04) deleterious(0.810) NULL ZNF589 51385 genome.wustl.edu 37 3 48310236 48310236 + Splice_Site SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000296437 +1 known e4+2 0.995 47 0% 77 50.6% 17 35.2% - - - - FBXW12 285231 genome.wustl.edu 37 3 48419843 48419843 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_207102.2 +1 validated p.H148Y 0.000 152 0% 168 44% 0 - benign(0) tolerated(1) - superfamily_WD40_like ATRIP 84126 genome.wustl.edu 37 3 48493159 48493159 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_130384.1 +1 reviewed p.L136I 1.000 117 0% 152 38.8% 2 0% probably_damaging(0.996) deleterious(0.05) deleterious(0.807) NULL COL7A1 1294 genome.wustl.edu 37 3 48630663 48630663 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000094.3 -1 reviewed p.R185Q 0.041 89 0% 101 44.6% 15 0% unknown(0) deleterious(0.02) - HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like QARS 5859 genome.wustl.edu 37 3 49137237 49137237 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005051.1 -1 reviewed p.E449K 1.000 250 0% 425 42.8% 721 43.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_tRNA-synt_1c,superfamily_SSF52374 USP19 10869 genome.wustl.edu 37 3 49146509 49146509 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006677.1 -1 provisional p.G1280D 0.974 26 0% 34 29.4% 8 12.5% benign(0.406) tolerated(0.07) neutral(0.450) NULL LAMB2 3913 genome.wustl.edu 37 3 49159123 49159123 + Silent SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002292.3 -1 reviewed p.A1698 1.000 83 0% 97 49.5% 325 37.5% - - - NULL CCDC71 64925 genome.wustl.edu 37 3 49200413 49200413 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_022903.3 -1 validated p.R410Q 0.000 200 0% 219 38.8% 44 50% benign(0.253) tolerated(0.13) neutral(0.279) NULL CCDC36 339834 genome.wustl.edu 37 3 49294343 49294343 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001135197.1 +1 validated p.F471L 0.000 134 0% 159 30.2% 0 - benign(0) deleterious(0) neutral(0.445) NULL BSN 8927 genome.wustl.edu 37 3 49693791 49693791 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003458.3 +1 reviewed p.P2268S 1.000 30 0% 41 39% 0 - probably_damaging(0.994) - - NULL BSN 8927 genome.wustl.edu 37 3 49702255 49702255 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003458.3 +1 reviewed p.F3922L 1.000 215 0% 260 43.1% 0 - possibly_damaging(0.444) - - NULL FAM212A 389119 genome.wustl.edu 37 3 49841704 49841704 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_203370.1 +1 validated p.L50F 0.759 89 0% 109 43.1% 2 0% benign(0) tolerated(0.71) neutral(0.002) NULL TRAIP 10293 genome.wustl.edu 37 3 49866927 49866927 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005879.2 -1 reviewed p.F417 0.800 108 0% 122 43.4% 25 28% - - - NULL TRAIP 10293 genome.wustl.edu 37 3 49869357 49869357 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005879.2 -1 reviewed p.E343D 0.142 164 0% 248 40.7% 1 0% benign(0.209) tolerated(0.29) neutral(0.050) NULL TRAIP 10293 genome.wustl.edu 37 3 49878496 49878496 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005879.2 -1 reviewed p.E209D 1.000 155 0% 186 33.9% 4 50% probably_damaging(0.996) tolerated(0.34) deleterious(0.485) superfamily_Prefoldin TRAIP 10293 genome.wustl.edu 37 3 49881330 49881330 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005879.2 -1 reviewed p.I104 0.203 185 0.5% 266 46.6% 13 53.8% - - - NULL GNAI2 2771 genome.wustl.edu 37 3 50289947 50289947 + Missense_Mutation SNP G G A rs183955200 by1000genomes TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002070.2 +1 reviewed p.D94N 1.000 45 0% 65 46.2% 1265 37.6% benign(0) tolerated(0.22) neutral(0.042) HMMPfam_G-alpha,superfamily_Transducin (alpha subunit) insertion domain,HMMSmart_SM00275,superfamily_P-loop containing nucleoside triphosphate hydrolases C3orf18 51161 genome.wustl.edu 37 3 50602995 50602995 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016210.3 -1 validated p.D46Y 0.990 97 0% 148 42.6% 0 - probably_damaging(0.999) deleterious(0.03) deleterious(0.855) NULL RAD54L2 23132 genome.wustl.edu 37 3 51624446 51624446 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015106.2 +1 validated p.E4K 1.000 253 0% 335 47.2% 4 50% unknown(0) deleterious(0) - NULL RAD54L2 23132 genome.wustl.edu 37 3 51679609 51679609 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015106.2 +1 validated p.R887W 1.000 187 0% 244 43.4% 8 25% probably_damaging(1) deleterious(0) deleterious(0.945) NULL DUSP7 1849 genome.wustl.edu 37 3 52084904 52084904 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001947.3 -1 validated p.S345L 1.000 121 0.8% 178 43.8% 36 36.1% benign(0.08) tolerated(0.06) neutral(0.328) NULL POC1A 25886 genome.wustl.edu 37 3 52109939 52109939 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015426.4 -1 validated p.E396D 1.000 110 0% 139 38.1% 24 37.5% benign(0) tolerated(0.5) neutral(0.010) NULL ALAS1 211 genome.wustl.edu 37 3 52233360 52233360 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000688.4 +1 validated p.K35E 0.997 57 0% 83 44.6% 30 53.3% probably_damaging(0.98) tolerated(0.14) deleterious(0.673) NULL TWF2 11344 genome.wustl.edu 37 3 52263130 52263130 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_007284.3 -1 reviewed p.A324T 1.000 42 0% 53 22.6% 97 17.5% possibly_damaging(0.791) deleterious(0.01) deleterious(0.702) superfamily_SSF55753 DNAH1 25981 genome.wustl.edu 37 3 52383412 52383412 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015512.4 +1 validated p.K834N 1.000 33 0% 38 50% 5 40% benign(0.124) tolerated(0.17) neutral(0.069) NULL DNAH1 25981 genome.wustl.edu 37 3 52428568 52428568 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015512.4 +1 validated p.R3572* 0.985 128 0% 179 42.5% 5 0% - - - HMMPfam_Dynein_heavy STAB1 23166 genome.wustl.edu 37 3 52550557 52550557 + Splice_Site SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015136.2 +1 reviewed e40-1 1.000 76 0% 108 45.4% 0 - - - - - NEK4 6787 genome.wustl.edu 37 3 52773525 52773525 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003157.3 -1 validated p.R740Q 1.000 319 0.6% 433 43.4% 13 46.1% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL ITIH1 3697 genome.wustl.edu 37 3 52817081 52817081 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002215.2 +1 reviewed p.A347S 0.993 100 0% 150 37.3% 0 - possibly_damaging(0.885) deleterious(0.01) deleterious(0.752) HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like RFT1 91869 genome.wustl.edu 37 3 53153907 53153907 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_052859.3 -1 reviewed p.R230I 0.000 249 0% 258 44.6% 0 - benign(0.022) tolerated(0.18) neutral(0.057) HMMPfam_Rft-1 PRKCD 5580 genome.wustl.edu 37 3 53226261 53226261 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006254.3 +1 reviewed p.F670 0.888 92 0% 90 41.1% 214 47.1% - - - NULL CACNA1D 776 genome.wustl.edu 37 3 53835434 53835434 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000720.2 +1 validated p.R1817I 0.999 43 0% 51 43.1% 1 0% possibly_damaging(0.71) deleterious(0.05) deleterious(0.602) NULL ENSG00000113811 0 genome.wustl.edu 37 3 53922452 53922452 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000488746 -1 known p.F26L 1.000 369 0.3% 428 40.9% 14 64.2% possibly_damaging(0.775) tolerated(0.44) neutral(0.301) NULL CACNA2D3 55799 genome.wustl.edu 37 3 54354493 54354493 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018398.2 +1 reviewed p.V77I 0.993 165 0% 217 45.2% 0 - benign(0.03) tolerated(0.54) neutral(0.009) NULL WNT5A 7474 genome.wustl.edu 37 3 55504179 55504179 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003392.3 -1 reviewed p.C362R 1.000 39 0% 29 34.5% 47 31.9% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_wnt,HMMSmart_SM00097 WNT5A 7474 genome.wustl.edu 37 3 55508583 55508583 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003392.3 -1 reviewed p.E156K 1.000 5 0.000 10 0.400 21 0% benign(0.188) tolerated(0.12) neutral(0.278) HMMPfam_wnt,HMMSmart_SM00097 CCDC66 285331 genome.wustl.edu 37 3 56600787 56600787 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001141947.1 +1 validated p.I237T 0.054 223 0% 255 46.3% 2 50% benign(0) tolerated(0.18) neutral(0.056) NULL FAM208A 23272 genome.wustl.edu 37 3 56667265 56667265 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001112736.1 -1 validated p.E1185G 1.000 217 0.5% 218 49.1% 1 0% probably_damaging(0.99) deleterious(0.03) deleterious(0.806) NULL FAM208A 23272 genome.wustl.edu 37 3 56680718 56680718 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001112736.1 -1 validated p.E683* 1.000 388 0% 546 46.3% 3 0% - - - NULL FAM208A 23272 genome.wustl.edu 37 3 56694944 56694944 + Missense_Mutation SNP T T A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001112736.1 -1 validated p.E421V 1.000 423 0% 568 25.4% 0 - probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL FAM208A 23272 genome.wustl.edu 37 3 56716708 56716708 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001112736.1 -1 validated p.K109N 1.000 133 0% 172 40.1% 8 37.5% probably_damaging(0.99) deleterious(0.04) deleterious(0.790) NULL IL17RD 54756 genome.wustl.edu 37 3 57132051 57132051 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017563.3 -1 validated p.F560 0.717 141 0% 169 46.2% 4 50% - - - NULL IL17RD 54756 genome.wustl.edu 37 3 57148808 57148808 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017563.3 -1 validated p.V74 0.987 121 0% 168 44% 1 100% - - - NULL DNAH12 201625 genome.wustl.edu 37 3 57344933 57344933 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_178504.4 -1 validated p.Y2702H 1.000 165 0% 229 44.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Dynein_heavy DNAH12 201625 genome.wustl.edu 37 3 57419553 57419553 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_178504.4 -1 validated p.F1530C 1.000 162 0.6% 218 41.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_AAA_5,superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH12 201625 genome.wustl.edu 37 3 57443893 57443893 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_178504.4 -1 validated p.E973* 0.998 259 0.4% 328 45.7% 0 - - - - HMMPfam_DHC_N2 DNAH12 201625 genome.wustl.edu 37 3 57454595 57454595 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_178504.4 -1 validated p.K739 1.000 338 0.3% 327 34.3% 0 - - - - HMMPfam_DHC_N2 DNAH12 201625 genome.wustl.edu 37 3 57458364 57458364 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_178504.4 -1 validated p.V562A 0.961 202 0% 228 43.4% 0 - benign(0.001) tolerated(0.48) neutral(0.011) NULL DNAH12 201625 genome.wustl.edu 37 3 57475240 57475240 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_178504.4 -1 validated p.E504K 0.994 290 0% 260 39.2% 0 - benign(0) tolerated(0.78) neutral(0.001) NULL PDE12 201626 genome.wustl.edu 37 3 57542790 57542790 + Silent SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_177966.5 +1 validated p.T228 0.825 120 0% 161 46% 20 30% - - - NULL FAM116A 201627 genome.wustl.edu 37 3 57616518 57616518 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152678.2 -1 validated p.E481* 1.000 311 0% 372 22% 2 0% - - - HMMPfam_DUF1630 FLNB 2317 genome.wustl.edu 37 3 58094270 58094270 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001457.3 +1 reviewed p.G676V 1.000 151 0% 212 44.3% 47 40.4% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_IG_FLMN,superfamily_Ig_E-set,HMMPfam_Filamin ABHD6 57406 genome.wustl.edu 37 3 58255130 58255130 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020676.5 +1 validated p.S120F 1.000 91 0% 134 36.6% 9 33.3% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_Abhydrolase_1,superfamily_SSF53474 CADPS 8618 genome.wustl.edu 37 3 62451072 62451072 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000473635 -1 known p.G194E 0.991 194 0% 234 41.5% 3 0% - - - NULL CADPS 8618 genome.wustl.edu 37 3 62467423 62467423 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003716.3 -1 reviewed p.W1050R 1.000 218 0% 340 40.9% 0 - possibly_damaging(0.667) deleterious(0.01) deleterious(0.641) NULL CADPS 8618 genome.wustl.edu 37 3 62522216 62522216 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000468271 -1 known p.S14Y 1.000 421 0% 512 36.9% 1 0% - - - NULL CADPS 8618 genome.wustl.edu 37 3 62739272 62739272 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003716.3 -1 reviewed p.I244 1.000 60 0% 71 50.7% 0 - - - - NULL ATXN7 6314 genome.wustl.edu 37 3 63968651 63968651 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001128149.2 +1 reviewed p.I350T 1.000 181 0% 242 46.3% 1 100% benign(0.198) deleterious(0.02) neutral(0.402) HMMPfam_SCA7 ADAMTS9 56999 genome.wustl.edu 37 3 64636717 64636717 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_182920.1 -1 reviewed p.R480Q 1.000 272 0% 315 38.1% 6 16.6% probably_damaging(0.977) tolerated(0.46) neutral(0.431) "HMMPfam_Reprolysin,superfamily_Metalloproteases (""zincins"") catalytic domain" MAGI1 9223 genome.wustl.edu 37 3 65342585 65342585 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001033057.1 -1 reviewed p.S1286L 0.799 155 0% 359 47.4% 20 30% benign(0.184) tolerated(0.35) neutral(0.038) NULL LMOD3 56203 genome.wustl.edu 37 3 69169181 69169181 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_198271.3 -1 validated p.E109* 0.000 224 0% 283 49.1% 0 - - - - NULL MITF 4286 genome.wustl.edu 37 3 70014376 70014376 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_198159.2 +1 reviewed p.E514* 1.000 109 0% 131 45% 9 22.2% - - - NULL FOXP1 27086 genome.wustl.edu 37 3 71050158 71050158 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032682.4 -1 reviewed p.V343L 1.000 307 0% 409 45.5% 6 16.6% probably_damaging(0.965) deleterious(0.05) deleterious(0.752) NULL SHQ1 55164 genome.wustl.edu 37 3 72873606 72873606 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018130.2 -1 validated p.K232N 0.969 281 0% 417 17% 8 12.5% benign(0.094) tolerated(0.42) neutral(0.021) HMMPfam_SHQ1 ROBO2 6092 genome.wustl.edu 37 3 77629268 77629268 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001128929.1 +1 reviewed p.R814W 0.859 143 0% 198 46% 21 33.3% - - - NULL ROBO1 6091 genome.wustl.edu 37 3 78680323 78680323 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002941.3 -1 reviewed p.S1205Y 0.994 535 0.2% 795 42.8% 29 20.6% possibly_damaging(0.762) tolerated(0.12) deleterious(0.543) NULL GBE1 2632 genome.wustl.edu 37 3 81692042 81692042 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000264326 -1 known p.K294N 1.000 190 0% 241 47.7% 30 50% possibly_damaging(0.432) tolerated(0.22) neutral(0.183) HMMSmart_SM00642,superfamily_(Trans)glycosidases POU1F1 5449 genome.wustl.edu 37 3 87309193 87309193 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001122757.1 -1 reviewed p.E269* 1.000 181 0% 247 14.6% 0 - - - - HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like ZNF654 55279 genome.wustl.edu 37 3 88188677 88188677 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018293.2 +1 validated p.N73H 0.323 117 0% 171 43.9% 3 66.6% probably_damaging(0.99) tolerated(0.11) deleterious(0.713) NULL EPHA3 2042 genome.wustl.edu 37 3 89390923 89390923 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005233.5 +1 reviewed p.R330I 1.000 129 0% 135 37% 0 - probably_damaging(0.987) deleterious(0.01) deleterious(0.842) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III EPHA3 2042 genome.wustl.edu 37 3 89528618 89528618 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005233.5 +1 reviewed p.E973G 1.000 110 0% 156 39.7% 0 - possibly_damaging(0.661) deleterious(0.04) deleterious(0.583) HMMSmart_SM00454,superfamily_SAM/Pointed domain,HMMPfam_SAM_2 PROS1 5627 genome.wustl.edu 37 3 93619687 93619687 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000313.3 -1 reviewed p.E230K 0.081 273 0% 321 46.7% 2 0% benign(0.002) tolerated(0.42) neutral(0.014) HMMSmart_EGF_CA,PatternScan_EGF_2,HMMPfam_EGF_CA,superfamily_SSF57196 PROS1 5627 genome.wustl.edu 37 3 93624721 93624721 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000313.3 -1 reviewed p.G170C 1.000 254 0% 215 45.6% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMSmart_EGF_CA,PatternScan_EGF_CA,superfamily_SSF57196 CRYBG3 131544 genome.wustl.edu 37 3 97598905 97598905 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_153605.2 +1 validated p.S374Y 0.987 185 0% 253 45.1% 0 - benign(0.029) deleterious(0) neutral(0.446) HMMSmart_SM00247,superfamily_gamma-Crystallin-like GABRR3 200959 genome.wustl.edu 37 3 97705550 97705550 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000329044 -1 known p.F233L 0.996 144 0% 198 46.5% 0 - benign(0.218) tolerated(0.22) neutral(0.064) HMMPfam_Neur_chan_memb,superfamily_Neurotransmitter-gated ion-channel transmembrane pore OR5H14 403273 genome.wustl.edu 37 3 97868537 97868537 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001005514.1 +1 provisional p.S103L 0.000 313 0% 424 46.2% 0 - benign(0.011) tolerated(0.23) neutral(0.042) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like GPR15 2838 genome.wustl.edu 37 3 98251531 98251531 + Silent SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005290.1 +1 provisional p.I218 0.062 289 0% 366 15% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like CPOX 1371 genome.wustl.edu 37 3 98309955 98309955 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000097.5 -1 reviewed p.E201K 1.000 310 0% 357 40.9% 9 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Coprogen_oxidas,superfamily_Coprogen_oxidas FILIP1L 11259 genome.wustl.edu 37 3 99567982 99567982 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_182909.2 -1 validated p.S846 1.000 184 0% 188 45.2% 9 0% - - - NULL C3orf26 84319 genome.wustl.edu 37 3 99879320 99879320 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032359.3 +1 validated p.T67N 0.000 192 0% 234 42.3% 4 0% benign(0.026) tolerated(0.39) neutral(0.017) NULL LNP1 348801 genome.wustl.edu 37 3 100170730 100170730 + Silent SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001085451.1 +1 validated p.I108 0.952 204 0% 215 43.3% 2 50% - - - NULL GPR128 84873 genome.wustl.edu 37 3 100387893 100387893 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032787.2 +1 validated p.D694Y 0.000 174 0% 219 49.8% 0 - possibly_damaging(0.624) deleterious(0.02) deleterious(0.601) HMMPfam_7tm_2 ABI3BP 25890 genome.wustl.edu 37 3 100470399 100470399 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015429.3 -1 validated p.E1037* 1.000 126 0% 192 42.7% 6 33.3% - - - NULL ABI3BP 25890 genome.wustl.edu 37 3 100513809 100513809 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015429.3 -1 validated p.I616L 0.934 258 0% 313 40.9% 5 60% possibly_damaging(0.887) tolerated(0.42) neutral(0.361) NULL ABI3BP 25890 genome.wustl.edu 37 3 100527025 100527025 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000495591 -1 known p.E607* 0.995 624 0% 762 16.9% 12 0% probably_damaging(0.998) deleterious(0.03) deleterious(0.839) NULL RG9MTD1 54931 genome.wustl.edu 37 3 101284608 101284608 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017819.2 +1 provisional p.R328Q 0.993 83 0% 88 39.8% 13 15.3% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_tRNA_m1G_MT ZBTB11 27107 genome.wustl.edu 37 3 101390177 101390177 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014415.3 -1 validated p.S192Y 1.000 183 0% 278 38.1% 8 62.5% probably_damaging(0.995) deleterious(0.04) deleterious(0.806) superfamily_BTB/POZ_fold CBLB 868 genome.wustl.edu 37 3 105397403 105397403 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_170662.3 -1 validated p.F814C 1.000 188 0% 257 45.5% 26 50% probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL CCDC54 84692 genome.wustl.edu 37 3 107096675 107096675 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032600.2 +1 provisional p.F81L 0.000 126 0% 176 44.3% 1 100% benign(0) tolerated(1) - NULL HHLA2 11148 genome.wustl.edu 37 3 108072354 108072354 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_007072.2 +1 provisional p.L49I 0.791 102 0% 118 44.1% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMSmart_IG,HMMPfam_V-set,superfamily_SSF48726 MYH15 22989 genome.wustl.edu 37 3 108117950 108117950 + Missense_Mutation SNP G G A rs187218353 by1000genomes TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014981.1 -1 validated p.S1654F 0.000 111 0% 148 45.9% 0 - possibly_damaging(0.817) deleterious(0.02) deleterious(0.692) HMMPfam_Myosin_tail_1 KIAA1524 57650 genome.wustl.edu 37 3 108295182 108295182 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020890.2 -1 validated p.F277C 1.000 176 0% 202 17.3% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_ARM repeat MORC1 27136 genome.wustl.edu 37 3 108818304 108818304 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014429.3 -1 reviewed p.M108I 1.000 289 0% 324 41.7% 0 - probably_damaging(0.978) deleterious(0.01) deleterious(0.826) superfamily_ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase PLCXD2 257068 genome.wustl.edu 37 3 111439589 111439589 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000312791 +1 known p.D296Y 1.000 221 0.5% 247 42.5% 0 - - - - superfamily_PLC-like phosphodiesterases TMPRSS7 344805 genome.wustl.edu 37 3 111797644 111797644 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001042575.2 +1 validated p.T634 0.012 118 0% 161 38.5% 0 - - - - HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases SLC9A10 285335 genome.wustl.edu 37 3 111927206 111927206 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_183061.1 -1 validated p.R602H 0.000 138 0% 180 42.8% 0 - benign(0.017) tolerated(0.32) neutral(0.025) superfamily_Voltage-gated potassium channels CCDC80 151887 genome.wustl.edu 37 3 112349024 112349024 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000461431 -1 known p.L55I 1.000 264 0.4% 380 44.2% 14 14.2% - - - NULL GTPBP8 29083 genome.wustl.edu 37 3 112714105 112714105 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014170.2 +1 validated p.R187* 1.000 121 0% 174 41.4% 0 - - - - HMMPfam_MMR_HSR1,superfamily_P-loop containing nucleoside triphosphate hydrolases C3orf17 25871 genome.wustl.edu 37 3 112736430 112736430 + Silent SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015412.3 -1 validated p.V42 0.795 193 0% 293 26.6% 10 30% - - - NULL WDR52 55779 genome.wustl.edu 37 3 113082108 113082108 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018338.3 -1 validated p.E940* 1.000 266 0% 327 44.6% 3 66.6% - - - NULL WDR52 55779 genome.wustl.edu 37 3 113145025 113145025 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018338.3 -1 validated p.S118L 0.871 300 0.3% 347 41.8% 1 0% possibly_damaging(0.9) deleterious(0) deleterious(0.801) NULL SPICE1 152185 genome.wustl.edu 37 3 113212951 113212951 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_144718.3 -1 validated p.E110D 1.000 265 0% 343 46.4% 2 50% probably_damaging(0.991) tolerated(0.3) deleterious(0.473) NULL SPICE1 152185 genome.wustl.edu 37 3 113225453 113225453 + Splice_Site SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_144718.3 -1 validated e1-1 0.997 318 0% 329 24.6% 0 - - - - - KIAA2018 205717 genome.wustl.edu 37 3 113375883 113375883 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001009899.2 -1 validated p.R1549Q 1.000 215 0% 289 47.8% 2 100% probably_damaging(0.997) tolerated(0.31) deleterious(0.493) NULL KIAA2018 205717 genome.wustl.edu 37 3 113377932 113377932 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001009899.2 -1 validated p.S866Y 0.266 137 0% 184 45.7% 2 0% probably_damaging(0.97) deleterious(0.01) deleterious(0.818) NULL GRAMD1C 54762 genome.wustl.edu 37 3 113659167 113659167 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017577.4 +1 validated p.R628Q 0.432 183 0% 261 47.1% 8 37.5% benign(0.014) tolerated(0.89) neutral(0.001) NULL ZDHHC23 254887 genome.wustl.edu 37 3 113673236 113673236 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_173570.3 +1 validated p.R284I 1.000 148 0% 190 16.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-DHHC KIAA1407 57577 genome.wustl.edu 37 3 113729857 113729857 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020817.1 -1 predicted p.L392P 1.000 174 0% 199 33.7% 5 20% probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL LSAMP 4045 genome.wustl.edu 37 3 115529252 115529252 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002338.3 -1 reviewed p.S310L 1.000 70 0% 71 33.8% 0 - benign(0.069) deleterious(0.03) neutral(0.369) NULL LSAMP 4045 genome.wustl.edu 37 3 115805287 115805287 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002338.3 -1 reviewed p.S91Y 1.000 133 0.8% 192 46.4% 1 0% benign(0.126) tolerated(0.06) neutral(0.333) HMMSmart_IG,HMMPfam_ig,superfamily_SSF48726 C3orf30 152405 genome.wustl.edu 37 3 118865522 118865522 + Silent SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000460150 +1 known p.*126R 0.000 32 0% 37 18.9% 0 - - - - NULL ARHGAP31 57514 genome.wustl.edu 37 3 119132840 119132840 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020754.2 +1 reviewed p.S688 0.000 112 0% 172 45.3% 1 0% - - - NULL PLA1A 51365 genome.wustl.edu 37 3 119334899 119334899 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015900.2 +1 validated p.F235 0.079 170 0% 251 43% 0 - - - - HMMPfam_Lipase,superfamily_alpha/beta-Hydrolases PLA1A 51365 genome.wustl.edu 37 3 119337023 119337023 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015900.2 +1 validated p.C304 0.917 252 0% 345 48.4% 0 - - - - HMMPfam_Lipase,superfamily_alpha/beta-Hydrolases FSTL1 11167 genome.wustl.edu 37 3 120123703 120123703 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_007085.4 -1 reviewed p.L193R 1.000 442 0.2% 612 17.5% 74 13.5% benign(0.022) deleterious(0) neutral(0.446) superfamily_SSF47473 POLQ 10721 genome.wustl.edu 37 3 121206740 121206740 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_199420.3 -1 validated p.E1680* 0.259 157 0% 149 44.3% 1 100% - - - NULL FBXO40 51725 genome.wustl.edu 37 3 121341991 121341991 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016298.3 +1 validated p.S572Y 0.436 69 0% 84 48.8% 0 - benign(0.308) tolerated(0.26) neutral(0.130) HMMPfam_F-box,superfamily_F-box domain GOLGB1 2804 genome.wustl.edu 37 3 121414006 121414006 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004487.3 -1 validated p.T1783 0.001 344 0% 482 45.6% 47 42.5% - - - NULL GOLGB1 2804 genome.wustl.edu 37 3 121417267 121417267 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000489400 -1 known p.S567L 0.278 110 0% 157 44.6% 4 25% - - - NULL EAF2 55840 genome.wustl.edu 37 3 121573611 121573611 + Silent SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018456.4 +1 validated p.H93 1.000 161 0% 151 39.1% 1 100% - - - HMMPfam_EAF CD86 942 genome.wustl.edu 37 3 121838308 121838308 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_175862.3 +1 reviewed p.R306I 0.000 263 0% 328 40.2% 0 - benign(0.113) deleterious(0) neutral(0.454) NULL CASR 846 genome.wustl.edu 37 3 121980797 121980797 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000388.3 +1 reviewed p.I305 0.896 42 0% 52 28.8% 0 - - - - HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I PARP15 165631 genome.wustl.edu 37 3 122345718 122345718 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001113523.1 +1 validated p.D426N 0.008 217 0% 223 39.9% 0 - benign(0.15) deleterious(0.04) neutral(0.362) superfamily_Macro domain-like PARP14 54625 genome.wustl.edu 37 3 122418537 122418537 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017554.2 +1 validated p.R379I 0.002 119 0% 161 47.8% 6 83.3% benign(0.256) tolerated(0.09) neutral(0.323) NULL PDIA5 10954 genome.wustl.edu 37 3 122869201 122869201 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000316218 +1 known p.F421L 1.000 39 0% 67 47.8% 72 26.3% probably_damaging(0.994) deleterious(0) deleterious(0.897) superfamily_Thiordxn-like_fd,HMMPfam_Thioredoxin,PatternScan_THIOREDOXIN_1 ADCY5 111 genome.wustl.edu 37 3 123066658 123066658 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_183357.1 -1 validated p.K459N 1.000 357 0% 464 41.4% 2 50% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMSmart_CYCc,superfamily_A/G_cyclase MYLK 4638 genome.wustl.edu 37 3 123401112 123401112 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_053025.3 -1 reviewed p.R1204Q 1.000 211 0% 271 49.8% 6 33.3% probably_damaging(0.958) deleterious(0.02) deleterious(0.784) NULL KALRN 8997 genome.wustl.edu 37 3 124103809 124103809 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001024660.3 +1 reviewed p.D628Y 1.000 63 0% 92 39.1% 18 72.2% probably_damaging(0.98) deleterious(0.03) deleterious(0.788) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat MUC13 56667 genome.wustl.edu 37 3 124632489 124632489 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_033049.2 -1 validated p.A334V 0.000 87 0% 94 31.9% 6 50% benign(0.01) tolerated(0.29) neutral(0.030) HMMSmart_SM00181 HEG1 57493 genome.wustl.edu 37 3 124728655 124728655 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020733.1 -1 validated p.C1029 0.999 153 0% 217 42.9% 12 25% - - - HMMSmart_SM00179,HMMSmart_SM00181,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin SNX4 8723 genome.wustl.edu 37 3 125216743 125216743 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003794.2 -1 reviewed p.L162I 1.000 108 0% 133 35.3% 13 38.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PX,HMMSmart_SM00312,superfamily_PX domain OSBPL11 114885 genome.wustl.edu 37 3 125271408 125271408 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_022776.4 -1 reviewed p.R424I 1.000 154 0.6% 224 42.9% 15 40% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Oxysterol_BP MIR548I1 100302204 genome.wustl.edu 37 3 125509337 125509337 + RNA SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000408810 -1 known NULL 0.008 107 0% 183 41% 1 0% - - - - SLC41A3 54946 genome.wustl.edu 37 3 125726032 125726032 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001008485.1 -1 validated p.R431W 0.999 64 0% 81 44.4% 93 44% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) PatternScan_PEROXIDASE_2 SLC41A3 54946 genome.wustl.edu 37 3 125775242 125775242 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001008487.1 -1 validated p.L52V 0.976 77 1.3% 113 44.2% 1 0% benign(0.024) tolerated(0.25) neutral(0.038) NULL KLF15 28999 genome.wustl.edu 37 3 126071738 126071738 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014079.3 -1 validated p.E10K 1.000 16 0% 14 42.9% 2 0% probably_damaging(0.979) deleterious(0) deleterious(0.867) NULL CCDC37 348807 genome.wustl.edu 37 3 126153223 126153223 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_182628.2 +1 validated p.R543G 0.329 18 0% 25 64% 6 50% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL UROC1 131669 genome.wustl.edu 37 3 126236523 126236523 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_144639.2 -1 reviewed p.R14W 0.005 32 0% 51 39.2% 0 - benign(0.198) deleterious(0.01) neutral(0.425) NULL PLXNA1 5361 genome.wustl.edu 37 3 126707994 126707994 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032242.3 +1 validated p.F163 0.986 12 0% 14 42.9% 29 51.7% - - - HMMPfam_Sema,HMMSmart_SM00630,superfamily_Sema domain PLXNA1 5361 genome.wustl.edu 37 3 126732949 126732949 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032242.3 +1 validated p.Q777H 1.000 41 0% 90 15.6% 32 31.2% benign(0.039) tolerated(0.27) neutral(0.036) NULL PLXNA1 5361 genome.wustl.edu 37 3 126737359 126737359 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032242.3 +1 validated p.E1272K 1.000 31 0% 37 48.6% 43 27.9% benign(0.127) deleterious(0) neutral(0.455) NULL PODXL2 50512 genome.wustl.edu 37 3 127390312 127390312 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015720.2 +1 validated p.C487 1.000 33 0% 57 36.8% 159 43.3% - - - HMMPfam_CD34_antigen RPN1 6184 genome.wustl.edu 37 3 128341018 128341018 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002950.3 -1 reviewed p.L544M 0.982 114 0.9% 158 29.7% 496 30.4% probably_damaging(1) tolerated(0.1) deleterious(0.786) NULL ACAD9 28976 genome.wustl.edu 37 3 128603555 128603555 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014049.4 +1 reviewed p.F70L 0.259 310 0% 294 41.2% 1 0% unknown(0) - - HMMPfam_Acyl-CoA_dh_N,superfamily_AcylCoA_dehyd_NM KIAA1257 57501 genome.wustl.edu 37 3 128694621 128694621 + Splice_Site SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020741.2 -1 predicted e6+1 0.872 359 0% 411 42.8% 0 - - - - - KIAA1257 57501 genome.wustl.edu 37 3 128695906 128695906 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020741.2 -1 predicted p.S271F 0.236 252 0% 316 40.8% 0 - benign(0.001) deleterious(0) neutral(0.445) NULL CCDC48 79825 genome.wustl.edu 37 3 128753055 128753055 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024768.2 +1 validated p.F7 0.006 75 0% 79 44.3% 7 0% - - - NULL RHO 6010 genome.wustl.edu 37 3 129247648 129247648 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000539.3 +1 reviewed p.F24 1.000 70 0% 102 18.6% 1 0% - - - HMMPfam_Rhodopsin_N,superfamily_SSF81321 COL6A5 256076 genome.wustl.edu 37 3 130092531 130092531 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_153264.5 +1 validated p.L17S 0.001 202 0% 199 43.7% 0 - probably_damaging(0.965) - - NULL COL6A5 256076 genome.wustl.edu 37 3 130107629 130107629 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_153264.5 +1 validated p.E690* 0.909 92 0% 111 15.3% 0 - - - - HMMPfam_VWA,HMMSmart_VWA,superfamily_SSF53300 ATP2C1 27032 genome.wustl.edu 37 3 130714897 130714897 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001001486.1 +1 reviewed p.E690K 1.000 95 0% 113 46.9% 94 39.3% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Calcium ATPase transmembrane domain M LOC100289095 100289095 genome.wustl.edu 37 3 131245421 131245421 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_002342398.1 +1 model p.T40M 0.454 58 0% 82 35.4% 5 0% - - - NULL DNAJC13 23317 genome.wustl.edu 37 3 132172243 132172243 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015268.3 +1 validated p.L213F 1.000 130 0% 161 46% 2 100% benign(0.217) deleterious(0.03) neutral(0.386) NULL DNAJC13 23317 genome.wustl.edu 37 3 132182620 132182620 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015268.3 +1 validated p.A617 1.000 188 0% 274 48.2% 5 20% - - - superfamily_ARM repeat DNAJC13 23317 genome.wustl.edu 37 3 132221281 132221281 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015268.3 +1 validated p.G1562D 1.000 281 0% 293 43.3% 6 66.6% probably_damaging(0.965) deleterious(0) deleterious(0.851) superfamily_ARM repeat NPHP3 27031 genome.wustl.edu 37 3 132400777 132400777 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_153240.3 -1 reviewed p.F1324L 0.987 281 0% 331 17.5% 4 0% benign(0) tolerated(0.18) neutral(0.056) NULL TMEM108 66000 genome.wustl.edu 37 3 133099396 133099396 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001136469.1 +1 validated p.R281C 0.006 13 0% 25 52% 1 100% possibly_damaging(0.544) tolerated(0.06) deleterious(0.507) NULL TF 7018 genome.wustl.edu 37 3 133467321 133467321 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001063.3 +1 reviewed p.K37E 0.985 186 0% 239 41.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Transferrin,HMMSmart_SM00094,superfamily_Periplasmic binding protein-like II TF 7018 genome.wustl.edu 37 3 133473352 133473352 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001063.3 +1 reviewed p.F113L 0.010 139 0% 147 43.5% 0 - benign(0.05) tolerated(0.65) neutral(0.006) HMMPfam_Transferrin,HMMSmart_SM00094,superfamily_Periplasmic binding protein-like II SLCO2A1 6578 genome.wustl.edu 37 3 133661502 133661502 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005630.2 -1 validated p.F524 0.977 245 0% 321 15.9% 14 7.1% - - - HMMPfam_OATP,superfamily_MFS_gen_substrate_transporter RYK 6259 genome.wustl.edu 37 3 133926324 133926324 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000460933 -1 known p.E192* 1.000 283 0% 322 40.4% 9 100% benign(0.001) tolerated(0.23) neutral(0.042) NULL CEP63 80254 genome.wustl.edu 37 3 134265012 134265012 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_025180.3 +1 reviewed p.E271* 1.000 128 0% 151 45% 1 0% - - - NULL CEP63 80254 genome.wustl.edu 37 3 134269061 134269061 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_025180.3 +1 reviewed p.A447T 0.929 153 0% 211 43.6% 11 54.5% benign(0.001) tolerated(0.4) neutral(0.016) NULL EPHB1 2047 genome.wustl.edu 37 3 134977865 134977865 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004441.4 +1 reviewed p.R953K 1.000 155 0% 188 46.8% 2 0% probably_damaging(0.979) tolerated(0.26) neutral(0.456) HMMPfam_SAM_1,HMMSmart_SM00454,superfamily_SAM/Pointed domain PPP2R3A 5523 genome.wustl.edu 37 3 135789364 135789364 + Silent SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000492624 +1 known p.S132P 1.000 234 0% 277 41.5% 8 25% - - - superfamily_EF-hand MSL2 55167 genome.wustl.edu 37 3 135870724 135870724 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018133.3 -1 validated p.P333 1.000 189 0% 266 48.9% 7 42.8% - - - NULL IL20RB 53833 genome.wustl.edu 37 3 136699423 136699423 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_144717.2 +1 validated p.V68 0.305 351 0% 411 41.8% 1 100% - - - HMMPfam_fn3,superfamily_Fibronectin type III DZIP1L 199221 genome.wustl.edu 37 3 137807238 137807238 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_173543.2 -1 validated p.E328K 0.992 48 0% 69 23.2% 0 - probably_damaging(0.998) deleterious(0.02) deleterious(0.857) NULL NME9 347736 genome.wustl.edu 37 3 138022367 138022367 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_178130.2 -1 provisional p.D243Y 0.000 155 0% 165 39.4% 2 50% benign(0.267) tolerated(0.14) neutral(0.278) NULL ESYT3 83850 genome.wustl.edu 37 3 138153907 138153907 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_031913.3 +1 validated p.F89L 0.995 12 0% 21 42.9% 1 0% benign(0.002) tolerated(0.91) - NULL CEP70 80321 genome.wustl.edu 37 3 138290143 138290143 + Missense_Mutation SNP T T A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024491.2 -1 validated p.K42I 0.999 234 0% 231 46.3% 18 61.1% probably_damaging(0.989) deleterious(0.05) deleterious(0.785) NULL PRR23B 389151 genome.wustl.edu 37 3 138738769 138738769 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001013650.2 -1 validated p.H245 0.000 41 0% 63 54% 0 - - - - HMMPfam_DUF2476 COPB2 9276 genome.wustl.edu 37 3 139085575 139085575 + Silent SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004766.2 -1 validated p.L573 0.922 111 0% 177 45.8% 187 43.8% - - - HMMPfam_Coatomer_WDAD,superfamily_Amine_DH_B_like CLSTN2 64084 genome.wustl.edu 37 3 140122641 140122641 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_022131.2 +1 validated p.E135K 0.996 33 0% 59 40.7% 3 0% benign(0.045) deleterious(0.02) neutral(0.386) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like CLSTN2 64084 genome.wustl.edu 37 3 140123437 140123437 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_022131.2 +1 validated p.F156L 1.000 61 0% 90 48.9% 2 0% probably_damaging(0.977) deleterious(0.02) deleterious(0.802) HMMSmart_SM00112,superfamily_Cadherin-like GK5 256356 genome.wustl.edu 37 3 141891222 141891222 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001039547.2 -1 validated p.R407Q 1.000 204 0% 270 39.3% 8 37.5% probably_damaging(1) deleterious(0) deleterious(0.945) PatternScan_FGGY_KINASES_2,HMMPfam_FGGY_C,superfamily_Actin-like ATPase domain ATR 545 genome.wustl.edu 37 3 142242849 142242849 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001184.3 -1 reviewed p.D1380Y 1.000 223 0% 271 40.6% 3 66.6% benign(0.132) tolerated(0.05) neutral(0.356) superfamily_ARM repeat TRPC1 7220 genome.wustl.edu 37 3 142503718 142503718 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003304.4 +1 validated p.R344I 1.000 303 0% 473 42.7% 0 - benign(0.082) tolerated(0.05) neutral(0.351) NULL PLSCR1 5359 genome.wustl.edu 37 3 146251312 146251312 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000448787 -1 known p.R5Q 0.001 392 0% 379 43% 7 28.5% unknown(0) deleterious(0) - NULL CPB1 1360 genome.wustl.edu 37 3 148552384 148552384 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001871.2 +1 reviewed p.L83I 0.976 153 0% 222 42.8% 0 - probably_damaging(0.967) tolerated(0.11) deleterious(0.680) HMMPfam_Propep_M14,superfamily_Protease propeptides/inhibitors EIF2A 83939 genome.wustl.edu 37 3 150299521 150299521 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032025.3 +1 validated p.K538N 1.000 134 0% 184 44% 15 33.3% possibly_damaging(0.696) deleterious(0.01) deleterious(0.655) NULL GPR87 53836 genome.wustl.edu 37 3 151012145 151012145 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_023915.3 -1 validated p.E297* 1.000 206 0% 240 85.8% 1 100% - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like IGSF10 285313 genome.wustl.edu 37 3 151156050 151156050 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_178822.4 -1 validated p.N2100S 0.935 311 0% 350 44.3% 2 0% benign(0.122) tolerated(0.68) neutral(0.012) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin IGSF10 285313 genome.wustl.edu 37 3 151164689 151164689 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_178822.4 -1 validated p.R1027I 0.872 96 0% 133 45.1% 0 - possibly_damaging(0.945) deleterious(0) deleterious(0.834) NULL IGSF10 285313 genome.wustl.edu 37 3 151164891 151164891 + Nonsense_Mutation SNP C C A rs35983399 byCluster;byFrequency;by1000genomes TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_178822.4 -1 validated p.E960* 0.000 187 0% 294 45.2% 3 66.6% - - - NULL AADACL2 344752 genome.wustl.edu 37 3 151475239 151475239 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_207365.3 +1 validated p.R355* 0.027 106 0% 145 47.6% 0 - - - - HMMPfam_Abhydrolase_3,superfamily_alpha/beta-Hydrolases AADAC 13 genome.wustl.edu 37 3 151535277 151535277 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001086.2 +1 reviewed p.N88D 0.000 234 0% 309 47.2% 4 0% benign(0) tolerated(0.36) neutral(0.020) superfamily_alpha/beta-Hydrolases MME 4311 genome.wustl.edu 37 3 154866379 154866379 + Missense_Mutation SNP A A G rs76264142 TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000902.3 +1 reviewed p.Q513R 0.997 118 0% 160 44.4% 0 - benign(0.257) tolerated(0.63) neutral(0.030) "superfamily_Metalloproteases (""zincins"") catalytic domain" PLCH1 23007 genome.wustl.edu 37 3 155199291 155199291 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001130960.1 -1 validated p.K1516N 1.000 63 0% 82 39% 15 53.3% benign(0.147) deleterious(0) neutral(0.458) NULL SLC33A1 9197 genome.wustl.edu 37 3 155551733 155551733 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004733.2 -1 reviewed p.P354H 1.000 181 0% 201 50.2% 17 64.7% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_MFS general substrate transporter SLC33A1 9197 genome.wustl.edu 37 3 155571238 155571238 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004733.2 -1 reviewed p.F183L 1.000 85 0% 97 39.2% 14 50% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_MFS general substrate transporter GMPS 8833 genome.wustl.edu 37 3 155611436 155611436 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003875.2 +1 reviewed p.E53* 1.000 155 0% 213 45.5% 16 6.2% - - - HMMPfam_GATase,superfamily_Class I glutamine amidotransferase-like CCNL1 57018 genome.wustl.edu 37 3 156866200 156866200 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020307.2 -1 validated p.R471C 1.000 334 0% 432 37% 69 43.4% unknown(0) tolerated(0.05) - NULL C3orf55 152078 genome.wustl.edu 37 3 157288986 157288986 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001130002.1 +1 validated p.R35K 0.004 463 0% 645 41.7% 1 100% benign(0.15) tolerated(1) neutral(0.013) NULL IFT80 57560 genome.wustl.edu 37 3 160099334 160099334 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020800.1 -1 validated p.K72N 1.000 178 0% 265 46.8% 1 0% benign(0.255) tolerated(0.34) neutral(0.050) superfamily_WD40_like SMC4 10051 genome.wustl.edu 37 3 160142748 160142748 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001002800.1 +1 validated p.L807V 0.947 175 0% 187 36.9% 32 46.8% benign(0.103) deleterious(0.02) neutral(0.391) HMMPfam_SMC_N,superfamily_P-loop containing nucleoside triphosphate hydrolases TRIM59 286827 genome.wustl.edu 37 3 160156301 160156301 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_173084.2 -1 validated p.R224I 0.970 192 0% 212 12.7% 0 - possibly_damaging(0.91) tolerated(0.09) deleterious(0.659) NULL PPM1L 151742 genome.wustl.edu 37 3 160786805 160786805 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_139245.2 +1 provisional p.R315* 0.998 87 0% 117 51.3% 0 - - - - HMMSmart_SM00331,HMMSmart_SM00332,superfamily_Protein serine/threonine phosphatase 2C catalytic domain,HMMPfam_PP2C MIR1263 100302148 genome.wustl.edu 37 3 163889339 163889339 + RNA SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000408324 -1 known NULL 0.058 28 0% 46 50% 0 - - - - - SI 6476 genome.wustl.edu 37 3 164724650 164724650 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001041.3 -1 reviewed p.D1454N 1.000 199 0% 256 52% 0 - benign(0.06) tolerated(0.64) neutral(0.007) HMMPfam_Glyco_hydro_31,superfamily_(Trans)glycosidases SI 6476 genome.wustl.edu 37 3 164741519 164741519 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001041.3 -1 reviewed p.D980Y 0.000 220 0% 318 44% 0 - benign(0) tolerated(0.63) neutral(0.004) HMMSmart_SM00018,superfamily_Trefoil SI 6476 genome.wustl.edu 37 3 164748590 164748590 + Silent SNP A A T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001041.3 -1 reviewed p.I934 0.012 121 0% 147 41.5% 0 - - - - HMMSmart_SM00018,superfamily_Trefoil SLITRK3 22865 genome.wustl.edu 37 3 164908165 164908165 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014926.2 -1 validated p.E152* 1.000 94 0% 101 43.6% 0 - - - - superfamily_SSF52058 BCHE 590 genome.wustl.edu 37 3 165491255 165491255 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000055.2 -1 reviewed p.F575C 1.000 359 0% 498 14.5% 0 - possibly_damaging(0.845) deleterious(0) deleterious(0.768) HMMPfam_AChE_tetra BCHE 590 genome.wustl.edu 37 3 165548191 165548191 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000055.2 -1 reviewed p.A211T 1.000 168 0% 183 48.6% 0 - possibly_damaging(0.895) tolerated(0.28) neutral(0.384) HMMPfam_COesterase,superfamily_SSF53474 BCHE 590 genome.wustl.edu 37 3 165548830 165548830 + Splice_Site SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000055.2 -1 reviewed e1-1 1.000 33 0% 44 27.3% 0 - - - - - WDR49 151790 genome.wustl.edu 37 3 167319921 167319921 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_178824.3 -1 provisional p.K82N 1.000 95 0% 108 47.2% 0 - probably_damaging(0.991) tolerated(0.11) deleterious(0.716) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 MECOM 2122 genome.wustl.edu 37 3 168833245 168833245 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000494292 -1 known p.V805 0.000 192 0% 238 45.8% 58 43.1% - - - NULL SEC62 7095 genome.wustl.edu 37 3 169710399 169710399 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003262.3 +1 reviewed p.L250I 1.000 232 0% 257 38.1% 58 41.3% benign(0.066) tolerated(1) neutral(0.004) HMMPfam_Sec62 PRKCI 5584 genome.wustl.edu 37 3 170016826 170016826 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002740.5 +1 reviewed p.S544Y 1.000 210 0% 260 20.8% 8 37.5% possibly_damaging(0.694) deleterious(0) deleterious(0.694) HMMSmart_S_TK_X,superfamily_Kinase_like,HMMPfam_Pkinase_C SKIL 6498 genome.wustl.edu 37 3 170078546 170078546 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005414.3 +1 validated p.E143* 1.000 207 0% 258 40.3% 11 45.4% - - - HMMPfam_Ski_Sno,superfamily_Putative DNA-binding domain SKIL 6498 genome.wustl.edu 37 3 170108956 170108956 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005414.3 +1 validated p.D602Y 1.000 101 0% 114 34.2% 1 0% probably_damaging(0.997) tolerated(0.06) deleterious(0.788) NULL RPL22L1 200916 genome.wustl.edu 37 3 170585926 170585926 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000430925 -1 known p.I56T 1.000 259 0% 305 42.6% 1 0% benign(0) - - NULL TNIK 23043 genome.wustl.edu 37 3 170841442 170841442 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015028.2 -1 validated p.S688Y 1.000 388 0% 476 48.5% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL TNIK 23043 genome.wustl.edu 37 3 170856043 170856043 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015028.2 -1 validated p.K515N 1.000 182 0% 199 53.8% 3 0% probably_damaging(0.996) tolerated(0.12) deleterious(0.722) NULL TMEM212 389177 genome.wustl.edu 37 3 171571415 171571415 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000334567 +1 known p.F106L 1.000 257 0% 365 20.3% 0 - benign(0.368) deleterious(0) deleterious(0.561) NULL FNDC3B 64778 genome.wustl.edu 37 3 172098796 172098796 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001135095.1 +1 validated p.I1072M 0.997 197 0% 266 16.5% 57 43.8% possibly_damaging(0.567) deleterious(0.01) deleterious(0.600) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III NLGN1 22871 genome.wustl.edu 37 3 173996952 173996952 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014932.2 +1 reviewed p.V387 0.997 312 0.3% 414 43.5% 0 - - - - HMMPfam_COesterase,superfamily_SSF53474 NAALADL2 254827 genome.wustl.edu 37 3 174974212 174974212 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_207015.2 +1 validated p.D278N 1.000 169 0% 211 17.1% 2 0% unknown(0) deleterious(0) - superfamily_Transferrin receptor ectodomain apical domain TBL1XR1 79718 genome.wustl.edu 37 3 176771652 176771652 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024665.4 -1 reviewed p.N38S 1.000 326 0% 388 41% 26 57.6% benign(0.092) tolerated(0.33) neutral(0.031) NULL ZMAT3 64393 genome.wustl.edu 37 3 178745563 178745563 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_022470.3 -1 reviewed p.A143D 1.000 88 0% 101 59.4% 1 100% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL PIK3CA 5290 genome.wustl.edu 37 3 178917478 178917478 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006218.2 +1 reviewed p.G118D 1.000 282 0% 323 39.6% 4 50% probably_damaging(0.976) deleterious(0.04) deleterious(0.767) superfamily_SSF54236 MRPL47 57129 genome.wustl.edu 37 3 179310468 179310468 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020409.2 -1 reviewed p.R198L 0.999 281 0% 285 41.1% 30 56.6% probably_damaging(0.999) tolerated(0.12) deleterious(0.751) NULL MRPL47 57129 genome.wustl.edu 37 3 179320488 179320488 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020409.2 -1 reviewed p.E66* 1.000 193 0% 242 54.1% 3 0% - - - HMMPfam_MRP-L47 USP13 8975 genome.wustl.edu 37 3 179418828 179418828 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003940.2 +1 validated p.D130N 1.000 246 0% 268 41% 1 0% benign(0.362) deleterious(0.04) neutral(0.464) NULL USP13 8975 genome.wustl.edu 37 3 179426658 179426658 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003940.2 +1 validated p.G240W 1.000 161 0% 233 39.9% 2 0% possibly_damaging(0.938) deleterious(0) deleterious(0.828) HMMPfam_zf-UBP,HMMSmart_ZnF_UBP USP13 8975 genome.wustl.edu 37 3 179462921 179462921 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003940.2 +1 validated p.S542I 1.000 237 0% 254 41.3% 3 66.6% benign(0.248) tolerated(0.09) neutral(0.322) HMMPfam_UCH,superfamily_SSF54001 CCDC39 339829 genome.wustl.edu 37 3 180372635 180372635 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_181426.1 -1 validated p.R282I 0.889 535 0% 655 44.3% 0 - benign(0.308) deleterious(0.05) neutral(0.442) NULL FXR1 8087 genome.wustl.edu 37 3 180667070 180667070 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005087.2 +1 reviewed p.R190Q 1.000 262 0% 347 15% 34 14.7% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL MCCC1 56922 genome.wustl.edu 37 3 182737979 182737979 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020166.3 -1 reviewed p.S639F 0.081 260 0% 298 11.4% 7 0% benign(0.394) deleterious(0.05) deleterious(0.472) superfamily_Hybrid_motif LAMP3 27074 genome.wustl.edu 37 3 182872169 182872169 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014398.3 -1 validated p.H20 0.000 240 0% 250 42% 0 - - - - NULL MCF2L2 23101 genome.wustl.edu 37 3 182947565 182947565 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015078.2 -1 validated p.Y645C 0.660 254 0% 288 44.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) MCF2L2 23101 genome.wustl.edu 37 3 183056597 183056597 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015078.2 -1 validated p.T159 1.000 250 0% 337 44.5% 0 - - - - HMMSmart_SM00516 KLHL24 54800 genome.wustl.edu 37 3 183382757 183382757 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017644.3 +1 validated p.N385T 1.000 234 0% 338 50.3% 23 82.6% probably_damaging(0.983) deleterious(0.02) deleterious(0.812) HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain PARL 55486 genome.wustl.edu 37 3 183560170 183560170 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018622.5 -1 reviewed p.N225H 1.000 162 0.6% 227 15.4% 31 6.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Rhomboid ABCC5 10057 genome.wustl.edu 37 3 183667837 183667837 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005688.2 -1 reviewed p.I1007 0.898 105 0% 139 45.3% 8 37.5% - - - HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain HTR3D 200909 genome.wustl.edu 37 3 183750660 183750660 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000382489 +1 known p.L14 0.614 100 0% 118 48.3% 0 - - - - NULL HTR3C 170572 genome.wustl.edu 37 3 183778064 183778064 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_130770.2 +1 reviewed p.D423G 1.000 191 0% 219 41.1% 0 - probably_damaging(0.966) deleterious(0) deleterious(0.853) HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM DVL3 1857 genome.wustl.edu 37 3 183882976 183882976 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004423.3 +1 reviewed p.K225 1.000 202 0% 273 43.6% 84 47.6% - - - NULL VWA5B2 90113 genome.wustl.edu 37 3 183956443 183956443 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_138345.1 +1 provisional p.R662W 1.000 47 0% 57 22.8% 15 53.3% probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL ALG3 10195 genome.wustl.edu 37 3 183963027 183963027 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000446569 -1 known p.P92S 0.982 62 0% 72 43.1% 93 51.6% - - - HMMPfam_ALG3 PSMD2 5708 genome.wustl.edu 37 3 184018174 184018174 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002808.3 +1 reviewed p.R100H 1.000 117 0% 150 43.3% 118 46.6% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ARM-type_fold EIF4G1 1981 genome.wustl.edu 37 3 184039537 184039537 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_182917.3 +1 reviewed p.E389K 0.238 106 0% 126 43.7% 185 51.8% possibly_damaging(0.95) tolerated(0.27) neutral(0.427) NULL EPHB3 2049 genome.wustl.edu 37 3 184290682 184290682 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004443.3 +1 reviewed p.A192T 1.000 38 0% 41 41.5% 15 33.3% possibly_damaging(0.911) deleterious(0) deleterious(0.807) HMMPfam_Ephrin_lbd,HMMSmart_EPH_lbd,superfamily_Gal_bind_like EHHADH 1962 genome.wustl.edu 37 3 184966213 184966213 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001966.3 -1 reviewed p.K56T 0.016 423 0% 497 44.1% 2 100% benign(0) tolerated(1) - HMMPfam_ECH,superfamily_SSF52096 MAP3K13 9175 genome.wustl.edu 37 3 185191451 185191451 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004721.3 +1 reviewed p.E778* 0.134 28 0% 48 47.9% 0 - - - - NULL MAP3K13 9175 genome.wustl.edu 37 3 185198226 185198226 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004721.3 +1 reviewed p.S903L 1.000 114 0% 144 44.4% 2 50% probably_damaging(0.978) deleterious(0) deleterious(0.865) NULL LIPH 200879 genome.wustl.edu 37 3 185241916 185241916 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_139248.2 -1 reviewed p.D221Y 1.000 303 0% 335 12.5% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Lipase,superfamily_SSF53474 SENP2 59343 genome.wustl.edu 37 3 185307946 185307946 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_021627.2 +1 validated p.R49I 1.000 59 0% 43 41.9% 3 66.6% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL SENP2 59343 genome.wustl.edu 37 3 185335320 185335320 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_021627.2 +1 validated p.I388T 1.000 253 0% 234 50.4% 10 60% benign(0.021) deleterious(0.02) neutral(0.384) superfamily_SSF54001 DGKG 1608 genome.wustl.edu 37 3 185986640 185986640 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001346.2 -1 reviewed p.K356E 1.000 26 0% 82 25.6% 0 - probably_damaging(0.994) tolerated(0.12) deleterious(0.713) HMMPfam_C1_1,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,superfamily_Cysteine-rich domain DGKG 1608 genome.wustl.edu 37 3 186038212 186038212 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001346.2 -1 reviewed p.E13* 1.000 326 0% 394 43.9% 0 - - - - superfamily_EF-hand DNAJB11 51726 genome.wustl.edu 37 3 186295578 186295578 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016306.4 +1 validated p.N149D 1.000 148 0% 199 42.7% 40 57.5% benign(0.035) tolerated(0.21) neutral(0.046) superfamily_HSP40/DnaJ peptide-binding domain TP63 8626 genome.wustl.edu 37 3 189586504 189586504 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003722.4 +1 reviewed p.R376 1.000 130 0% 172 40.7% 1 0% - - - NULL TP63 8626 genome.wustl.edu 37 3 189612036 189612036 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003722.4 +1 reviewed p.A596 1.000 102 0% 149 47% 5 20% - - - HMMSmart_SM00454,superfamily_SAM/Pointed domain,HMMPfam_SAM_2 LEPREL1 55214 genome.wustl.edu 37 3 189705445 189705445 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018192.3 -1 validated p.V323 0.997 128 0% 179 45.8% 7 42.8% - - - superfamily_TPR-like TMEM207 131920 genome.wustl.edu 37 3 190147512 190147512 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_207316.1 -1 provisional p.A105S 0.581 199 0% 284 44.7% 0 - benign(0.328) tolerated(0.24) neutral(0.140) NULL IL1RAP 3556 genome.wustl.edu 37 3 190373891 190373891 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000317757 +1 known p.S520Y 1.000 121 0% 157 40.8% 0 - possibly_damaging(0.656) deleterious(0.01) deleterious(0.637) HMMPfam_TIR,HMMSmart_TIR,superfamily_TIR ATP13A5 344905 genome.wustl.edu 37 3 192993027 192993027 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_198505.2 -1 provisional p.K1154T 0.998 249 0% 309 19.1% 0 - possibly_damaging(0.932) deleterious(0) deleterious(0.823) NULL ATP13A4 84239 genome.wustl.edu 37 3 193158398 193158398 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000428352 -1 known p.E463* 1.000 135 0% 204 41.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_HAD-like ATP13A4 84239 genome.wustl.edu 37 3 193232548 193232548 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032279.2 -1 validated p.V58A 0.993 118 0% 163 10.4% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL OPA1 4976 genome.wustl.edu 37 3 193360794 193360794 + Silent SNP C C A rs104893753 byCluster TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_130837.2 +1 reviewed p.R421 1.000 238 0% 323 41.8% 12 41.6% - - - HMMPfam_Dynamin_N,HMMSmart_SM00053,superfamily_P-loop containing nucleoside triphosphate hydrolases CPN2 1370 genome.wustl.edu 37 3 194062289 194062289 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001080513.2 -1 validated p.F381 0.061 89 0% 125 42.4% 0 - - - - HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_RNI-like CPN2 1370 genome.wustl.edu 37 3 194062456 194062456 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001080513.2 -1 validated p.T326A 0.000 36 0% 54 40.7% 0 - benign(0) tolerated(0.31) neutral(0.027) HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00364,superfamily_RNI-like ATP13A3 79572 genome.wustl.edu 37 3 194157835 194157835 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024524.3 -1 validated p.Q703H 1.000 313 0% 353 12.5% 7 14.2% probably_damaging(1) tolerated(0.22) deleterious(0.542) HMMPfam_Hydrolase,superfamily_HAD-like,superfamily_Metal cation-transporting ATPase ATP-binding domain N,superfamily_Calcium ATPase transmembrane domain M ATP13A3 79572 genome.wustl.edu 37 3 194180661 194180661 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024524.3 -1 validated p.L89I 0.989 165 0% 215 45.6% 3 33.3% benign(0.008) tolerated(0.39) neutral(0.016) NULL LOC651714 651714 genome.wustl.edu 37 3 195345674 195345674 + RNA SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XR_078298.1 +1 model NULL 0.010 105 0% 128 16.4% 9 0% possibly_damaging(0.605) deleterious(0) deleterious(0.654) - MUC4 4585 genome.wustl.edu 37 3 195507782 195507782 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018406.5 -1 reviewed p.D3429N 0.005 497 0.8% 618 28% 120 37.5% possibly_damaging(0.509) - - NULL MUC4 4585 genome.wustl.edu 37 3 195508538 195508538 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018406.5 -1 reviewed p.V3177I 0.005 241 0% 313 24.6% 73 5.4% benign(0.095) - - NULL MUC4 4585 genome.wustl.edu 37 3 195517946 195517946 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018406.5 -1 reviewed p.V169F 0.000 431 0% 557 43.6% 4 25% possibly_damaging(0.811) deleterious(0.04) deleterious(0.654) NULL OSTalpha 200931 genome.wustl.edu 37 3 195960000 195960000 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152672.5 +1 validated p.R318Q 0.998 131 0% 191 37.7% 6 50% probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL SENP5 205564 genome.wustl.edu 37 3 196627274 196627274 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152699.4 +1 validated p.V599 0.487 374 0% 434 15.7% 3 0% - - - HMMPfam_Peptidase_C48,superfamily_Cysteine proteinases SENP5 205564 genome.wustl.edu 37 3 196650370 196650370 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152699.4 +1 validated p.R657Q 0.999 435 0% 547 43.9% 4 0% possibly_damaging(0.57) deleterious(0.05) deleterious(0.540) HMMPfam_Peptidase_C48,superfamily_Cysteine proteinases NCBP2 22916 genome.wustl.edu 37 3 196663950 196663950 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_007362.3 -1 reviewed p.R135W 1.000 208 0% 309 37.9% 155 44.5% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_RNA-binding domain RBD DLG1 1739 genome.wustl.edu 37 3 196807941 196807941 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004087.2 -1 validated p.S662Y 1.000 545 0% 629 17.6% 10 20% possibly_damaging(0.435) deleterious(0.01) deleterious(0.547) superfamily_SH3-domain KIAA0226 9711 genome.wustl.edu 37 3 197427516 197427516 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001145642.2 -1 validated p.S350L 0.996 72 0% 78 61.5% 10 30% probably_damaging(0.999) deleterious(0.05) deleterious(0.836) NULL KIAA0226 9711 genome.wustl.edu 37 3 197427525 197427525 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001145642.2 -1 validated p.R347H 1.000 72 0% 73 30.1% 12 58.3% probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL FYTTD1 84248 genome.wustl.edu 37 3 197501072 197501072 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032288.6 +1 validated p.R216I 1.000 290 0% 341 48.4% 37 48.6% probably_damaging(0.979) deleterious(0) deleterious(0.867) HMMPfam_FYTT FYTTD1 84248 genome.wustl.edu 37 3 197505281 197505281 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032288.6 +1 validated p.K268N 1.000 191 0% 258 13.2% 57 21% probably_damaging(0.995) tolerated(0.11) deleterious(0.729) HMMPfam_FYTT ENSG00000211553 0 genome.wustl.edu 37 4 130305 130305 + RNA SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000390127 +1 known NULL 0.064 111 0% 127 39.4% 0 - - - - - SLC26A1 10861 genome.wustl.edu 37 4 973204 973204 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_134425.1 -1 reviewed p.R222I 0.045 286 0% 364 36% 2 50% possibly_damaging(0.903) - - NULL RNF212 285498 genome.wustl.edu 37 4 1079723 1079723 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001131034.1 -1 validated p.S108Y 0.476 133 0% 165 47.3% 0 - probably_damaging(0.983) tolerated(0.22) deleterious(0.471) NULL CTBP1-AS1 92070 genome.wustl.edu 37 4 1244706 1244706 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000357591 +1 known p.K115 0.000 43 0% 92 46.7% 18 33.3% - - - NULL SLBP 7884 genome.wustl.edu 37 4 1701798 1701798 + Splice_Site SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006527.2 -1 reviewed e4-1 1.000 434 0.2% 508 16.5% 0 - - - - - TMEM129 92305 genome.wustl.edu 37 4 1719965 1719965 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001127266.1 -1 validated p.E198 0.917 28 0% 25 24% 213 21.5% - - - HMMPfam_Tmpp129 TACC3 10460 genome.wustl.edu 37 4 1729774 1729774 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006342.1 +1 reviewed p.E215 0.000 20 0% 24 50% 24 50% - - - NULL WHSC1 7468 genome.wustl.edu 37 4 1941428 1941428 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001042424.2 +1 reviewed p.R602W 1.000 214 0% 243 46.5% 34 55.8% probably_damaging(1) deleterious(0) deleterious(0.945) NULL WHSC1 7468 genome.wustl.edu 37 4 1978263 1978263 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001042424.2 +1 reviewed p.R1228H 0.982 121 0% 135 14.1% 128 9.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL HAUS3 79441 genome.wustl.edu 37 4 2238105 2238105 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024511.5 -1 provisional p.E476D 1.000 53 0% 83 43.4% 9 33.3% possibly_damaging(0.686) tolerated(0.33) neutral(0.269) NULL FAM193A 8603 genome.wustl.edu 37 4 2733570 2733570 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003704.3 +1 validated p.K1217R 1.000 143 0% 142 45.8% 52 57.6% probably_damaging(0.993) deleterious(0) deleterious(0.895) NULL TNIP2 79155 genome.wustl.edu 37 4 2746501 2746501 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024309.3 -1 validated p.E277K 0.000 37 0% 34 41.2% 53 35.8% benign(0.237) tolerated(0.38) neutral(0.041) NULL GRK4 2868 genome.wustl.edu 37 4 3009500 3009500 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_182982.2 +1 reviewed p.E161* 1.000 298 0% 329 41% 0 - - - - HMMPfam_RGS,HMMSmart_SM00315,superfamily_Regulator of G-protein signaling RGS GRK4 2868 genome.wustl.edu 37 4 3040128 3040128 + Missense_Mutation SNP A A T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_182982.2 +1 reviewed p.D524V 1.000 209 0% 239 23.8% 0 - probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMSmart_SM00133 HTT 3064 genome.wustl.edu 37 4 3210525 3210525 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002111.6 +1 reviewed p.D2060N 1.000 129 0% 177 44.1% 34 52.9% probably_damaging(0.998) tolerated(1) deleterious(0.474) NULL ADRA2C 152 genome.wustl.edu 37 4 3768724 3768724 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000683.3 +1 reviewed p.D131N 1.000 50 0% 61 52.5% 228 5.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OTOP1 133060 genome.wustl.edu 37 4 4207848 4207848 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_177998.1 -1 provisional p.L184I 0.818 254 0% 309 42.7% 0 - probably_damaging(0.999) tolerated(0.08) deleterious(0.790) HMMPfam_DUF270 LYAR 55646 genome.wustl.edu 37 4 4281195 4281195 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001145725.1 -1 validated p.I136 1.000 123 0% 147 12.9% 4 0% - - - NULL STX18 53407 genome.wustl.edu 37 4 4426919 4426919 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016930.2 -1 validated p.E245* 1.000 246 0% 287 39.4% 351 4.8% - - - NULL STX18 53407 genome.wustl.edu 37 4 4436548 4436548 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000503861 -1 known p.V151M 0.065 536 0% 626 40.6% 204 62.2% - - - NULL STK32B 55351 genome.wustl.edu 37 4 5170088 5170088 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018401.1 +1 provisional p.Q57H 1.000 130 0% 216 51.9% 1 0% benign(0.023) tolerated(0.16) neutral(0.060) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase EVC2 132884 genome.wustl.edu 37 4 5624673 5624673 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_147127.4 -1 reviewed p.R698* 0.000 18 0% 36 27.8% 1 0% - - - NULL EVC 2121 genome.wustl.edu 37 4 5811293 5811293 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_153717.2 +1 reviewed p.P913S 0.990 74 0% 80 47.5% 0 - possibly_damaging(0.44) tolerated(0.81) neutral(0.144) NULL JAKMIP1 152789 genome.wustl.edu 37 4 6081969 6081969 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001099433.1 -1 validated p.D391G 0.999 43 0% 81 24.7% 1 0% benign(0.026) deleterious(0.01) neutral(0.407) NULL TBC1D14 57533 genome.wustl.edu 37 4 7012484 7012484 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001113361.1 +1 validated p.A541 0.064 220 0% 322 41.6% 15 53.3% - - - HMMPfam_TBC,HMMSmart_TBC TADA2B 93624 genome.wustl.edu 37 4 7056116 7056116 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152293.2 +1 validated p.E200K 1.000 25 0% 34 17.6% 46 26% possibly_damaging(0.722) tolerated(0.46) neutral(0.274) NULL TADA2B 93624 genome.wustl.edu 37 4 7056664 7056664 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152293.2 +1 validated p.Q382H 1.000 47 0% 54 50% 13 38.4% possibly_damaging(0.443) tolerated(0.16) neutral(0.204) NULL ACOX3 8310 genome.wustl.edu 37 4 8368756 8368756 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003501.2 -1 validated p.R679W 0.865 122 0.8% 178 19.1% 10 10% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ACOX,superfamily_Acyl-CoA dehydrogenase C-terminal domain-like ENSG00000238726 0 genome.wustl.edu 37 4 9025195 9025195 + RNA SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000408553 -1 novel NULL 0.060 91 0% 117 38.5% 0 - - - - - DEFB131 644414 genome.wustl.edu 37 4 9452100 9452100 + Missense_Mutation SNP T T C rs182857763 by1000genomes TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001040448.2 +1 validated p.S25P 0.235 127 0% 132 36.4% 0 - benign(0.005) tolerated(0.36) neutral(0.020) NULL DRD5 1816 genome.wustl.edu 37 4 9784117 9784117 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000798.4 +1 reviewed p.R155H 0.940 20 0% 45 35.6% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like BOD1L 259282 genome.wustl.edu 37 4 13602068 13602068 + Silent SNP G G A rs139854434 by1000genomes TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_148894.2 -1 validated p.F2152 0.011 54 0% 65 52.3% 11 63.6% - - - superfamily_SSF81995 BOD1L 259282 genome.wustl.edu 37 4 13612649 13612649 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_148894.2 -1 validated p.R467Q 1.000 466 0.2% 586 41.1% 2 100% probably_damaging(1) tolerated(0.07) deleterious(0.819) superfamily_SSF81995 CC2D2A 57545 genome.wustl.edu 37 4 15517516 15517516 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001080522.2 +1 reviewed p.E302 1.000 82 0% 83 50.6% 4 25% - - - NULL FBXL5 26234 genome.wustl.edu 37 4 15607391 15607391 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000513163 -1 known p.E598* 1.000 141 0% 151 41.1% 74 44.5% probably_damaging(0.991) deleterious(0) deleterious(0.889) superfamily_RNI-like FGFBP2 83888 genome.wustl.edu 37 4 15964285 15964285 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_031950.3 -1 reviewed p.V156 0.000 88 0% 104 41.3% 0 - - - - HMMPfam_FGF-BP1 LDB2 9079 genome.wustl.edu 37 4 16899996 16899996 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001290.3 -1 validated p.R38I 1.000 185 0% 317 42.9% 12 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_LIM_bind LCORL 254251 genome.wustl.edu 37 4 17885752 17885752 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000382226 -1 known p.S467Y 1.000 122 0% 108 45.4% 1 100% possibly_damaging(0.693) deleterious(0.04) deleterious(0.597) NULL LCORL 254251 genome.wustl.edu 37 4 17910893 17910893 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_153686.7 -1 reviewed p.A169V 1.000 209 0% 340 45% 5 0% probably_damaging(0.979) deleterious(0) deleterious(0.867) NULL SLIT2 9353 genome.wustl.edu 37 4 20270444 20270444 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004787.1 +1 provisional p.R112I 1.000 308 0% 426 44.4% 1 0% probably_damaging(0.981) deleterious(0.03) deleterious(0.790) HMMSmart_SM00369,superfamily_L domain-like SLIT2 9353 genome.wustl.edu 37 4 20541081 20541081 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004787.1 +1 provisional p.R617Q 0.993 394 0% 492 47% 7 14.2% benign(0.008) tolerated(0.4) neutral(0.016) HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00365,superfamily_L domain-like SLIT2 9353 genome.wustl.edu 37 4 20591290 20591290 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004787.1 +1 provisional p.D1038N 1.000 239 0% 329 45.3% 29 31% benign(0.025) tolerated(0.11) neutral(0.273) HMMSmart_SM00179,superfamily_EGF/Laminin SLIT2 9353 genome.wustl.edu 37 4 20620395 20620395 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004787.1 +1 provisional p.I1451 1.000 123 0% 158 43.7% 25 76% - - - superfamily_EGF/Laminin GPR125 166647 genome.wustl.edu 37 4 22414962 22414962 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_145290.2 -1 validated p.R692Q 1.000 150 0% 254 50.4% 28 57.1% probably_damaging(0.985) tolerated(0.36) neutral(0.452) NULL PPARGC1A 10891 genome.wustl.edu 37 4 23816020 23816020 + Silent SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_013261.3 -1 reviewed p.S362 0.053 150 0% 213 14.1% 0 - - - - NULL DHX15 1665 genome.wustl.edu 37 4 24577912 24577912 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001358.2 -1 reviewed p.Q154R 1.000 232 0% 282 11.7% 137 11.6% benign(0.274) deleterious(0.05) neutral(0.375) HMMSmart_AAA,HMMSmart_DEXDc,superfamily_SSF52540 LGI2 55203 genome.wustl.edu 37 4 25005844 25005844 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018176.3 -1 validated p.V289 0.997 63 0% 84 44% 0 - - - - HMMPfam_EPTP LGI2 55203 genome.wustl.edu 37 4 25020815 25020815 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000512108 -1 known p.S144* 1.000 301 0% 415 44.8% 0 - probably_damaging(0.983) tolerated(0.1) deleterious(0.716) HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like ZCCHC4 29063 genome.wustl.edu 37 4 25363884 25363884 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000505412 +1 known p.E255* 0.996 364 0% 424 42.7% 4 0% benign(0.092) tolerated(0.3) neutral(0.036) NULL RBPJ 3516 genome.wustl.edu 37 4 26432585 26432585 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005349.2 +1 validated p.N487D 1.000 61 0% 84 46.4% 33 42.4% unknown(0) tolerated(0.16) - NULL CCKAR 886 genome.wustl.edu 37 4 26483299 26483299 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000730.2 -1 reviewed p.F416L 0.241 78 0% 88 47.7% 0 - benign(0) tolerated(0.57) neutral(0.006) NULL CCKAR 886 genome.wustl.edu 37 4 26487351 26487351 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000730.2 -1 reviewed p.I178M 0.932 223 0% 315 47.3% 0 - possibly_damaging(0.822) deleterious(0.01) deleterious(0.717) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like TBC1D19 55296 genome.wustl.edu 37 4 26638844 26638844 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018317.2 +1 validated p.E102D 1.000 222 0.5% 237 43.9% 0 - probably_damaging(0.988) tolerated(0.4) neutral(0.454) NULL STIM2 57620 genome.wustl.edu 37 4 27019558 27019558 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020860.3 +1 reviewed p.R659Q 1.000 132 0.8% 202 37.1% 53 47.1% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL STIM2 57620 genome.wustl.edu 37 4 27024487 27024487 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020860.3 +1 reviewed p.D791N 0.997 136 0% 184 40.2% 26 46.1% benign(0.318) deleterious(0) deleterious(0.544) NULL PCDH7 5099 genome.wustl.edu 37 4 30921797 30921797 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032457.3 +1 reviewed p.S1019Y 1.000 94 0% 121 24.8% 5 0% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL KIAA1239 57495 genome.wustl.edu 37 4 37446104 37446104 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001144990.1 +1 validated p.R832W 1.000 115 0% 134 49.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL KIAA1239 57495 genome.wustl.edu 37 4 37447429 37447429 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001144990.1 +1 validated p.I1273 1.000 102 0% 133 14.3% 0 - - - - superfamily_WD40_like TLR10 81793 genome.wustl.edu 37 4 38775323 38775323 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001017388.1 -1 reviewed p.R630I 0.487 266 0% 348 37.9% 0 - benign(0.378) deleterious(0.01) deleterious(0.526) superfamily_TIR TLR10 81793 genome.wustl.edu 37 4 38776180 38776180 + Silent SNP C C T rs11096956 byCluster;byFrequency;by2Hit2Allele;byHapMap;by1000genomes TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001017388.1 -1 reviewed p.P344 0.016 221 0.5% 251 37.1% 0 - - - - superfamily_SSF52058 FAM114A1 92689 genome.wustl.edu 37 4 38880038 38880038 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_138389.2 +1 validated p.Q113H 0.959 47 0% 90 15.6% 9 44.4% probably_damaging(0.981) deleterious(0.01) deleterious(0.831) NULL WDR19 57728 genome.wustl.edu 37 4 39233800 39233800 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_025132.3 +1 reviewed p.L721I 1.000 210 0% 263 41.8% 9 55.5% probably_damaging(0.994) deleterious(0.04) deleterious(0.801) NULL WDR19 57728 genome.wustl.edu 37 4 39255649 39255649 + Silent SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_025132.3 +1 reviewed p.I1000 1.000 173 0% 219 40.6% 3 66.6% - - - superfamily_TPR-like RFC1 5981 genome.wustl.edu 37 4 39352997 39352997 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002913.3 -1 reviewed p.K35Q 0.776 624 0% 675 45.3% 2 0% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL PDS5A 23244 genome.wustl.edu 37 4 39846283 39846283 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001100399.1 -1 reviewed p.R1181* 1.000 303 0% 424 46.2% 14 14.2% - - - NULL N4BP2 55728 genome.wustl.edu 37 4 40103837 40103837 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018177.3 +1 reviewed p.E124D 0.001 116 0% 134 38.8% 1 0% possibly_damaging(0.653) deleterious(0) deleterious(0.674) NULL N4BP2 55728 genome.wustl.edu 37 4 40146336 40146336 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018177.3 +1 reviewed p.P1687S 1.000 215 0% 284 44.4% 3 33.3% probably_damaging(0.998) tolerated(0.05) deleterious(0.820) NULL RBM47 54502 genome.wustl.edu 37 4 40440446 40440446 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001098634.1 -1 validated p.I155 1.000 12 0% 21 52.4% 53 39.6% - - - HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD NSUN7 79730 genome.wustl.edu 37 4 40778076 40778076 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024677.4 +1 validated p.R279Q 1.000 243 0% 306 40.8% 1 0% probably_damaging(0.996) tolerated(0.13) deleterious(0.714) superfamily_S-adenosyl-L-methionine-dependent methyltransferases NSUN7 79730 genome.wustl.edu 37 4 40810491 40810491 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024677.4 +1 validated p.M564I 0.721 192 0% 169 40.8% 1 0% benign(0) tolerated(0.17) neutral(0.059) NULL APBB2 323 genome.wustl.edu 37 4 40825744 40825744 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_173075.4 -1 reviewed p.L594I 1.000 84 0% 145 42.8% 26 23% possibly_damaging(0.906) tolerated(0.15) deleterious(0.601) HMMPfam_PID,HMMSmart_SM00462,superfamily_PH domain-like LIMCH1 22998 genome.wustl.edu 37 4 41663459 41663459 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000508466 +1 known p.R470* 0.000 305 0.3% 371 36.4% 13 46.1% benign(0.001) tolerated(0.14) neutral(0.249) NULL ATP8A1 10396 genome.wustl.edu 37 4 42487622 42487622 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006095.2 -1 reviewed p.D739Y 1.000 165 0% 225 40.4% 3 0% possibly_damaging(0.757) deleterious(0) deleterious(0.724) HMMPfam_Hydrolase,superfamily_HAD-like ATP8A1 10396 genome.wustl.edu 37 4 42618085 42618085 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006095.2 -1 reviewed p.K125T 1.000 548 0% 679 45.2% 0 - possibly_damaging(0.897) tolerated(0.28) neutral(0.385) HMMPfam_E1-E2_ATPase GRXCR1 389207 genome.wustl.edu 37 4 43022379 43022379 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001080476.1 +1 provisional p.E212D 1.000 208 0% 274 35.8% 0 - possibly_damaging(0.646) tolerated(0.39) neutral(0.242) superfamily_Thiordxn-like_fd GUF1 60558 genome.wustl.edu 37 4 44688678 44688678 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_021927.2 +1 validated p.E296K 1.000 218 0.9% 280 38.9% 3 100% probably_damaging(0.973) deleterious(0.01) deleterious(0.821) HMMPfam_GTP_EFTU_D2,superfamily_Translat_factor GABRG1 2565 genome.wustl.edu 37 4 46099315 46099315 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_173536.3 -1 reviewed p.T52 0.978 432 0.2% 536 42.9% 0 - - - - NULL GABRB1 2560 genome.wustl.edu 37 4 47034018 47034018 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000812.3 +1 reviewed p.F56 1.000 162 0% 195 45.6% 0 - benign(0.011) deleterious(0.01) neutral(0.406) HMMPfam_Neur_chan_LBD,superfamily_Neur_chan_LBD COMMD8 54951 genome.wustl.edu 37 4 47462214 47462214 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017845.3 -1 provisional p.D57Y 1.000 212 0% 232 38.4% 2 100% probably_damaging(0.979) deleterious(0.05) deleterious(0.767) HMMPfam_HCaRG ATP10D 57205 genome.wustl.edu 37 4 47525216 47525216 + Missense_Mutation SNP C C T rs192815760 by1000genomes TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020453.3 +1 validated p.R225W 0.945 243 0% 277 40.8% 1 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transduction domain A CORIN 10699 genome.wustl.edu 37 4 47628537 47628537 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006587.2 -1 reviewed p.E734* 1.000 218 0% 329 24.9% 0 - - - - HMMSmart_SM00202,superfamily_SRCR-like CORIN 10699 genome.wustl.edu 37 4 47647172 47647172 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006587.2 -1 reviewed p.K628T 0.959 287 0% 304 45.1% 1 0% probably_damaging(1) tolerated(0.12) deleterious(0.760) HMMSmart_SM00192,superfamily_LDL receptor-like module FRYL 285527 genome.wustl.edu 37 4 48611023 48611023 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015030.1 -1 validated p.G185R 1.000 233 0% 306 42.5% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ARM repeat CWH43 80157 genome.wustl.edu 37 4 49005925 49005925 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_025087.2 +1 validated p.E326* 0.015 167 0% 178 46.6% 0 - - - - NULL LRRC66 339977 genome.wustl.edu 37 4 52862253 52862253 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001024611.1 -1 provisional p.R312H 0.000 84 0% 126 50% 0 - benign(0) tolerated(0.4) neutral(0.016) NULL SPATA18 132671 genome.wustl.edu 37 4 52943162 52943162 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_145263.2 +1 provisional p.D326N 0.999 24 0% 24 33.3% 21 42.8% probably_damaging(1) tolerated(0.09) deleterious(0.796) NULL SPATA18 132671 genome.wustl.edu 37 4 52951113 52951113 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_145263.2 +1 provisional p.R504Q 1.000 233 0.4% 268 51.1% 17 52.9% probably_damaging(0.999) tolerated(0.08) deleterious(0.790) NULL FIP1L1 81608 genome.wustl.edu 37 4 54257257 54257257 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_030917.3 +1 reviewed p.R196Q 1.000 167 0% 224 43.8% 4 75% possibly_damaging(0.939) deleterious(0.01) deleterious(0.790) HMMPfam_Fip1 LNX1 84708 genome.wustl.edu 37 4 54327741 54327741 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001126328.1 -1 reviewed p.D638Y 1.000 109 0% 182 39.6% 18 27.7% probably_damaging(0.993) deleterious(0) deleterious(0.895) HMMPfam_PDZ,superfamily_PDZ domain-like PDGFRA 5156 genome.wustl.edu 37 4 55156541 55156541 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006206.4 +1 reviewed p.R981H 0.677 124 0% 184 44% 17 11.7% probably_damaging(0.999) deleterious(0.04) deleterious(0.839) NULL KIT 3815 genome.wustl.edu 37 4 55592144 55592144 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000222.2 +1 reviewed p.E490* 0.942 193 0% 313 41.5% 3 0% - - - NULL KDR 3791 genome.wustl.edu 37 4 55955933 55955933 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002253.2 -1 reviewed p.I1077L 1.000 269 0% 254 48.8% 1 0% probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like KDR 3791 genome.wustl.edu 37 4 55968610 55968610 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002253.2 -1 reviewed p.E685K 0.519 284 0% 358 29.1% 9 0% possibly_damaging(0.712) tolerated(0.77) neutral(0.259) HMMSmart_IGc2,HMMPfam_I-set,superfamily_SSF48726 TMEM165 55858 genome.wustl.edu 37 4 56290758 56290758 + Silent SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018475.3 +1 validated p.G282 0.000 248 0% 329 48% 153 45.7% - - - HMMPfam_UPF0016 PDCL2 132954 genome.wustl.edu 37 4 56435976 56435976 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152401.2 -1 reviewed p.E91* 1.000 392 0% 446 39.5% 0 - - - - HMMPfam_Phosducin,superfamily_Thiordxn-like_fd EXOC1 55763 genome.wustl.edu 37 4 56744100 56744100 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001024924.1 +1 reviewed p.S364 1.000 203 0% 262 46.2% 11 36.3% - - - HMMPfam_Sec3 EXOC1 55763 genome.wustl.edu 37 4 56757483 56757483 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001024924.1 +1 reviewed p.I514 0.999 377 0% 513 43.3% 12 58.3% - - - HMMPfam_Sec3 CEP135 9662 genome.wustl.edu 37 4 56841103 56841103 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_025009.3 +1 validated p.E481* 1.000 121 0% 129 31% 1 0% - - - NULL CEP135 9662 genome.wustl.edu 37 4 56851518 56851518 + Silent SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_025009.3 +1 validated p.N617 1.000 171 0% 235 37.9% 0 - - - - NULL ARL9 132946 genome.wustl.edu 37 4 57384859 57384859 + Missense_Mutation SNP C C T rs61732254 byCluster;byFrequency;by1000genomes TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_206919.1 +1 validated p.P11L 0.994 351 0% 404 44.3% 2 100% benign(0.177) deleterious(0.04) neutral(0.365) HMMPfam_Arf,superfamily_P-loop containing nucleoside triphosphate hydrolases LPHN3 23284 genome.wustl.edu 37 4 62800732 62800732 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015236.4 +1 reviewed p.D695N 1.000 200 0% 204 41.7% 0 - benign(0.012) tolerated(0.25) neutral(0.037) superfamily_Family A G protein-coupled receptor-like TECRL 253017 genome.wustl.edu 37 4 65274861 65274861 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001010874.4 -1 validated p.R70M 0.830 199 0% 246 43.5% 0 - possibly_damaging(0.509) tolerated(0.06) deleterious(0.493) NULL CENPC1 1060 genome.wustl.edu 37 4 68385054 68385054 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001812.2 -1 reviewed p.K166N 0.027 227 0.4% 368 41.8% 1 100% benign(0.347) tolerated(0.56) neutral(0.117) NULL STAP1 26228 genome.wustl.edu 37 4 68456610 68456610 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_012108.2 +1 reviewed p.R223I 1.000 129 0% 165 40.6% 0 - possibly_damaging(0.918) tolerated(0.44) neutral(0.381) HMMSmart_SM00252,superfamily_SH2 domain UBA6 55236 genome.wustl.edu 37 4 68499130 68499130 + Frame_Shift_Del DEL C C - novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018227.5 -1 validated p.R692fs 1.000 - - - - - - - - - superfamily_Activating enzymes of the ubiquitin-like proteins TMPRSS11F 389208 genome.wustl.edu 37 4 68930569 68930569 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_207407.2 -1 validated p.E283D 0.929 217 0% 323 45.2% 0 - benign(0.246) deleterious(0) deleterious(0.470) HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys TMPRSS11F 389208 genome.wustl.edu 37 4 68956303 68956303 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_207407.2 -1 validated p.E74* 1.000 176 0% 223 46.6% 0 - - - - HMMPfam_SEA,HMMSmart_SEA,superfamily_SSF82671 YTHDC1 91746 genome.wustl.edu 37 4 69179917 69179917 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001031732.2 -1 validated p.R695Q 1.000 204 0% 248 39.9% 95 38.9% unknown(0) deleterious(0) - NULL YTHDC1 91746 genome.wustl.edu 37 4 69199099 69199099 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001031732.2 -1 validated p.E300D 1.000 327 0% 399 40.6% 20 50% unknown(0) tolerated(0.38) - NULL UGT2B17 7367 genome.wustl.edu 37 4 69434001 69434001 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001077.3 -1 reviewed p.K68Q 0.000 198 0% 194 50% 1 0% benign(0.022) tolerated(0.35) neutral(0.022) HMMPfam_UDPGT,superfamily_SSF53756 UGT2B15 7366 genome.wustl.edu 37 4 69520866 69520866 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001076.2 -1 validated p.T347N 0.804 311 0% 407 36.6% 0 - benign(0.003) tolerated(0.95) - HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase UGT2B11 10720 genome.wustl.edu 37 4 69870844 69870844 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000381096 -1 known p.E440D 1.000 188 0% 278 32% 0 - - - - HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase UGT2B11 10720 genome.wustl.edu 37 4 69885730 69885730 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000381096 -1 known p.N125H 0.000 196 0% 236 45.3% 0 - - - - HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase UGT2B7 7364 genome.wustl.edu 37 4 69973842 69973842 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001074.2 +1 validated p.F371C 1.000 172 0% 253 43.5% 6 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_UDPGT,PatternScan_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase UGT2B11 10720 genome.wustl.edu 37 4 70080416 70080416 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001073.1 -1 provisional p.L9I 0.016 340 0% 468 41.7% 0 - benign(0.047) tolerated(0.29) neutral(0.032) NULL UGT2B28 54490 genome.wustl.edu 37 4 70146642 70146642 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_053039.1 +1 provisional p.E142* 0.001 277 0% 412 15.5% 0 - - - - HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase UGT2B28 54490 genome.wustl.edu 37 4 70160253 70160253 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_053039.1 +1 provisional p.K439T 1.000 146 0% 212 37.7% 0 - - - - HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase UGT2B28 54490 genome.wustl.edu 37 4 70160509 70160509 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_053039.1 +1 provisional p.K524N 0.988 787 0% 894 43.1% 0 - benign(0.009) deleterious(0.05) neutral(0.346) HMMPfam_UDPGT UGT2B28 54490 genome.wustl.edu 37 4 70284671 70284671 + Silent SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000381079 +1 known p.P366 0.995 149 0% 220 37.3% 0 - - - - HMMPfam_UDPGT,PatternScan_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase UGT2B28 54490 genome.wustl.edu 37 4 70288724 70288724 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000381079 +1 known p.R477Q 0.629 307 0% 495 32.7% 0 - - - - HMMPfam_UDPGT UGT2B4 7363 genome.wustl.edu 37 4 70346619 70346619 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_021139.2 -1 validated p.E440D 1.000 191 0% 241 38.2% 0 - benign(0.001) deleterious(0.01) neutral(0.406) HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase UGT2A2 574537 genome.wustl.edu 37 4 70504700 70504700 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001105677.1 -1 inferred p.K212T 0.991 86 0% 117 41% 0 - possibly_damaging(0.68) tolerated(0.12) deleterious(0.503) HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase MUC7 4589 genome.wustl.edu 37 4 71347468 71347468 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001145006.1 +1 reviewed p.S336L 0.000 492 0% 634 48.7% 0 - possibly_damaging(0.873) tolerated(0.12) deleterious(0.600) NULL ENAM 10117 genome.wustl.edu 37 4 71500177 71500177 + Silent SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_031889.2 +1 reviewed p.E121 0.795 273 0% 256 23% 0 - - - - NULL ENAM 10117 genome.wustl.edu 37 4 71508120 71508120 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_031889.2 +1 reviewed p.R326I 0.000 97 0% 123 19.5% 0 - probably_damaging(0.986) deleterious(0) deleterious(0.879) NULL RUFY3 22902 genome.wustl.edu 37 4 71659518 71659518 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001037442.2 +1 validated p.R452* 1.000 37 0% 45 42.2% 1 0% - - - NULL SLC4A4 8671 genome.wustl.edu 37 4 72215670 72215670 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001134742.1 +1 reviewed p.R144I 1.000 206 0% 206 45.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Band_3_cyto,superfamily_PTrfase/Anion_transptr SLC4A4 8671 genome.wustl.edu 37 4 72425905 72425905 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001134742.1 +1 reviewed p.K1011N 1.000 176 0% 233 54.1% 0 - probably_damaging(0.993) deleterious(0.01) deleterious(0.856) NULL GC 2638 genome.wustl.edu 37 4 72622616 72622616 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000583.2 -1 reviewed p.V283I 0.211 94 0% 106 49.1% 0 - benign(0) tolerated(0.33) neutral(0.024) superfamily_Serum albumin-like,HMMPfam_Serum_albumin,HMMSmart_SM00103 ALB 213 genome.wustl.edu 37 4 74281975 74281975 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000511370 +1 known p.R243* 0.000 276 0% 360 40% 0 - - - - PatternScan_ALBUMIN,superfamily_Serum albumin-like AFM 173 genome.wustl.edu 37 4 74357660 74357660 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001133.2 +1 reviewed p.K305N 0.011 189 0% 259 39.4% 0 - possibly_damaging(0.908) tolerated(0.09) deleterious(0.658) superfamily_Serum albumin-like,HMMPfam_Serum_albumin,HMMSmart_SM00103 RASSF6 166824 genome.wustl.edu 37 4 74453612 74453612 + Silent SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_201431.1 -1 validated p.I141 0.997 234 0% 300 42.7% 0 - - - - NULL EREG 2069 genome.wustl.edu 37 4 75250454 75250454 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001432.2 +1 validated p.R147* 0.224 174 0% 189 45.5% 0 - - - - NULL CDKL2 8999 genome.wustl.edu 37 4 76523386 76523386 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003948.3 -1 reviewed p.E299* 1.000 138 0% 142 42.3% 0 - - - - superfamily_Protein kinase-like (PK-like) CDKL2 8999 genome.wustl.edu 37 4 76525530 76525530 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003948.3 -1 reviewed p.D273E 1.000 297 0.3% 280 42.5% 0 - benign(0.036) tolerated(1) neutral(0.002) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase PPEF2 5470 genome.wustl.edu 37 4 76809434 76809434 + Silent SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006239.2 -1 reviewed p.K155 0.600 182 0% 251 42.2% 0 - - - - HMMSmart_SM00156,HMMPfam_PPP5,superfamily_Metallo-dependent phosphatases CXCL9 4283 genome.wustl.edu 37 4 76925968 76925968 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002416.1 -1 reviewed p.E90D 0.996 293 0% 381 43.8% 0 - unknown(0) tolerated(0.25) - superfamily_Chemokine_IL8 CCDC158 339965 genome.wustl.edu 37 4 77244496 77244496 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001042784.1 -1 validated p.S1075N 1.000 438 0% 621 45.9% 0 - benign(0.04) deleterious(0) neutral(0.447) NULL SHROOM3 57619 genome.wustl.edu 37 4 77660524 77660524 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020859.3 +1 validated p.R400W 0.612 22 0% 33 39.4% 31 38.7% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SOWAHB 345079 genome.wustl.edu 37 4 77818892 77818892 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001029870.1 -1 provisional p.P37 0.441 21 0% 21 38.1% 1 0% - - - NULL CXCL13 10563 genome.wustl.edu 37 4 78528977 78528977 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006419.2 +1 validated p.R62I 0.010 151 0% 179 41.3% 0 - probably_damaging(0.978) deleterious(0.05) deleterious(0.766) HMMPfam_IL8,HMMSmart_SM00199,superfamily_Interleukin 8-like chemokines,PatternScan_SMALL_CYTOKINES_CXC MRPL1 65008 genome.wustl.edu 37 4 78804444 78804444 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000502384 +1 known p.E18* 0.674 171 0% 133 39.1% 1 0% unknown(0) tolerated(0.08) - NULL MRPL1 65008 genome.wustl.edu 37 4 78804460 78804460 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020236.3 +1 reviewed p.E70* 0.991 197 0% 164 42.1% 1 100% - - - NULL FRAS1 80144 genome.wustl.edu 37 4 79359747 79359747 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_025074.6 +1 reviewed p.E1746D 1.000 224 0% 305 13.8% 1 0% possibly_damaging(0.474) tolerated(0.45) neutral(0.169) NULL BMP2K 55589 genome.wustl.edu 37 4 79772099 79772099 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_198892.1 +1 reviewed p.K258E 1.000 146 0% 194 45.4% 5 20% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase PAQR3 152559 genome.wustl.edu 37 4 79847806 79847806 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001040202.1 -1 validated p.H191N 1.000 146 0% 215 43.3% 8 37.5% benign(0.218) tolerated(0.61) neutral(0.025) HMMPfam_HlyIII GK2 2712 genome.wustl.edu 37 4 80328422 80328422 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_033214.2 -1 validated p.E311D 0.996 116 0% 208 47.1% 0 - benign(0) tolerated(1) - HMMPfam_FGGY_C,superfamily_SSF53067 GK2 2712 genome.wustl.edu 37 4 80329180 80329180 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_033214.2 -1 validated p.E59* 1.000 311 0.3% 384 41.4% 0 - - - - HMMPfam_FGGY_N,superfamily_SSF53067 ANTXR2 118429 genome.wustl.edu 37 4 80976367 80976367 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001145794.1 -1 reviewed p.K164N 0.001 232 0% 390 44.1% 5 0% benign(0.004) tolerated(0.63) neutral(0.004) HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like C4orf22 255119 genome.wustl.edu 37 4 81791175 81791175 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152770.1 +1 predicted p.S121Y 1.000 179 0% 274 43.1% 0 - possibly_damaging(0.673) deleterious(0.03) deleterious(0.603) NULL HNRPDL 9987 genome.wustl.edu 37 4 83349583 83349583 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_031372.2 -1 reviewed p.G154C 1.000 250 0% 251 44.2% 248 48.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD HELQ 113510 genome.wustl.edu 37 4 84348760 84348760 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_133636.2 -1 validated p.L878M 0.971 159 0% 234 46.6% 3 0% benign(0) tolerated(0.69) neutral(0.002) NULL FAM175A 84142 genome.wustl.edu 37 4 84384689 84384689 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_139076.2 -1 validated p.R252* 0.005 557 0% 616 42.2% 0 - - - - NULL WDFY3 23001 genome.wustl.edu 37 4 85707234 85707234 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014991.4 -1 reviewed p.E1320D 1.000 184 0% 240 43.8% 7 100% possibly_damaging(0.571) tolerated(0.33) neutral(0.220) NULL WDFY3 23001 genome.wustl.edu 37 4 85731460 85731460 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014991.4 -1 reviewed p.R642I 1.000 79 0% 78 48.7% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ARM repeat ARHGAP24 83478 genome.wustl.edu 37 4 86921732 86921732 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001025616.2 +1 validated p.R702* 1.000 187 0% 196 19.9% 0 - - - - NULL MAPK10 5602 genome.wustl.edu 37 4 87019707 87019707 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_138982.2 -1 reviewed p.R258C 1.000 333 0% 486 45.3% 0 - benign(0.005) tolerated(0.06) neutral(0.323) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase PTPN13 5783 genome.wustl.edu 37 4 87728979 87728979 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_080685.2 +1 reviewed p.R2343* 1.000 154 0% 186 43.5% 3 0% - - - HMMPfam_Y_phosphatase,HMMSmart_PTPc,superfamily_SSF52799 AFF1 4299 genome.wustl.edu 37 4 87968660 87968660 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005935.2 +1 validated p.R318* 0.999 26 0% 46 41.3% 4 25% - - - HMMPfam_AF-4 AFF1 4299 genome.wustl.edu 37 4 88029435 88029435 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005935.2 +1 validated p.E494* 0.994 134 0% 182 14.3% 3 33.3% - - - HMMPfam_AF-4 KLHL8 57563 genome.wustl.edu 37 4 88091294 88091294 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020803.3 -1 validated p.E492* 1.000 156 0% 147 49.7% 10 30% - - - HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain KLHL8 57563 genome.wustl.edu 37 4 88104375 88104375 + Missense_Mutation SNP G G C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020803.3 -1 validated p.T311S 0.920 270 0% 326 42.6% 11 18.1% benign(0.066) tolerated(0.26) neutral(0.038) superfamily_Galactose oxidase central domain DSPP 1834 genome.wustl.edu 37 4 88536764 88536764 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014208.3 +1 reviewed p.D984N 0.115 330 1.8% 470 48.7% 4 25% unknown(0) - - NULL IBSP 3381 genome.wustl.edu 37 4 88723667 88723667 + Missense_Mutation SNP A A T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004967.3 +1 reviewed p.N21I 1.000 122 0% 146 41.8% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMPfam_BSP_II PKD2 5311 genome.wustl.edu 37 4 88957423 88957423 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000297.2 +1 reviewed p.S254* 1.000 157 0% 202 22.3% 3 0% - - - NULL ABCG2 9429 genome.wustl.edu 37 4 89039362 89039362 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004827.2 -1 reviewed p.Y247C 1.000 346 0% 417 42.9% 13 0% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases ENSG00000199326 0 genome.wustl.edu 37 4 89147961 89147961 + RNA SNP C C T rs149925997 by1000genomes TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000362456 +1 novel NULL 0.002 46 0% 43 32.6% 0 - - - - - HERC5 51191 genome.wustl.edu 37 4 89408283 89408283 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016323.2 +1 reviewed p.L639M 0.574 255 0% 326 41.1% 0 - benign(0.238) deleterious(0.04) neutral(0.373) NULL FAM13A 10144 genome.wustl.edu 37 4 89649790 89649790 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014883.2 -1 validated p.R989H 1.000 361 0% 487 43.9% 12 58.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL FAM13A 10144 genome.wustl.edu 37 4 89670943 89670943 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014883.2 -1 validated p.F686 0.999 256 0% 300 42.7% 1 100% - - - NULL MMRN1 22915 genome.wustl.edu 37 4 90857912 90857912 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_007351.2 +1 reviewed p.G1027 0.771 36 0% 45 37.8% 1 0% - - - NULL FAM190A 401145 genome.wustl.edu 37 4 91389414 91389414 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001145065.1 +1 validated p.V545I 0.988 214 0% 338 29.3% 1 100% benign(0.32) tolerated(0.31) neutral(0.127) NULL GRID2 2895 genome.wustl.edu 37 4 94376916 94376916 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001510.2 +1 validated p.R550Q 1.000 164 0% 240 46.3% 0 - benign(0.044) deleterious(0.01) neutral(0.408) HMMSmart_PBPe,superfamily_SSF53850 ADH1B 125 genome.wustl.edu 37 4 100232008 100232008 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000668.4 -1 reviewed p.K339 1.000 362 0.6% 478 50.4% 0 - - - - superfamily_GroES-like C4orf17 84103 genome.wustl.edu 37 4 100434256 100434256 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032149.2 +1 validated p.P6 0.000 112 0% 130 49.2% 0 - - - - NULL DAPP1 27071 genome.wustl.edu 37 4 100774380 100774380 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014395.2 +1 validated p.L122M 1.000 179 0% 229 11.4% 0 - probably_damaging(0.954) tolerated(0.15) deleterious(0.639) superfamily_SH2 domain DDIT4L 115265 genome.wustl.edu 37 4 101109313 101109313 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_145244.2 -1 provisional p.W35R 1.000 57 0% 66 45.5% 0 - probably_damaging(0.981) deleterious(0.02) deleterious(0.808) NULL BANK1 55024 genome.wustl.edu 37 4 102751249 102751249 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017935.4 +1 reviewed p.K119Q 0.112 102 0% 136 46.3% 0 - benign(0.033) tolerated(0.67) neutral(0.004) NULL SLC39A8 64116 genome.wustl.edu 37 4 103228762 103228762 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001135146.1 -1 reviewed p.V128A 1.000 143 0% 174 17.2% 9 11.1% benign(0.172) tolerated(0.37) neutral(0.035) HMMPfam_Zip NFKB1 4790 genome.wustl.edu 37 4 103505872 103505872 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003998.3 +1 reviewed p.D321Y 1.000 166 0% 144 41% 2 0% probably_damaging(0.993) deleterious(0) deleterious(0.895) superfamily_ANK,HMMPfam_TIG,HMMSmart_IPT,superfamily_Ig_E-set SLC9B1 150159 genome.wustl.edu 37 4 103911065 103911065 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_139173.2 -1 reviewed p.E35* 0.013 599 0% 729 44.9% 0 - - - - NULL BDH2 56898 genome.wustl.edu 37 4 104004068 104004068 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020139.3 -1 validated p.S184Y 1.000 475 0% 492 43.1% 53 52.8% probably_damaging(1) tolerated(1) deleterious(0.500) superfamily_NAD(P)-binding Rossmann-fold domains CENPE 1062 genome.wustl.edu 37 4 104035645 104035645 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001813.2 -1 validated p.L2503I 1.000 737 0% 811 42.4% 1 100% probably_damaging(0.993) deleterious(0) deleterious(0.895) NULL CENPE 1062 genome.wustl.edu 37 4 104061027 104061027 + Silent SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001813.2 -1 validated p.R2041 0.485 410 0% 535 23.7% 0 - - - - NULL PPA2 27068 genome.wustl.edu 37 4 106345480 106345480 + Splice_Site SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_176869.2 -1 reviewed e7-1 1.000 135 0% 155 41.9% 0 - - - - - TBCK 93627 genome.wustl.edu 37 4 107157562 107157562 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_033115.3 -1 validated p.F382 1.000 226 0% 275 42.9% 1 0% - - - superfamily_RabGAP_TBC SEC24B 10427 genome.wustl.edu 37 4 110442585 110442585 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006323.2 +1 reviewed p.D771N 1.000 250 0% 266 37.2% 7 71.4% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_Sec23_trunk,superfamily_vWA-like,superfamily_beta-sandwich domain of Sec23/24 EGF 1950 genome.wustl.edu 37 4 110862302 110862302 + Splice_Site SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001963.4 +1 reviewed e2+1 1.000 82 0% 121 42.1% 0 - - - - - C4orf21 55345 genome.wustl.edu 37 4 113540560 113540560 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000505019 -1 known p.F213C 0.070 129 0% 161 44.1% 0 - possibly_damaging(0.894) tolerated(0.05) deleterious(0.698) NULL ANK2 287 genome.wustl.edu 37 4 114277614 114277614 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001148.4 +1 reviewed p.E2614* 0.933 216 0.5% 257 46.3% 0 - - - - NULL ANK2 287 genome.wustl.edu 37 4 114277837 114277837 + Missense_Mutation SNP G G A rs142107156 by1000genomes TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001148.4 +1 reviewed p.R2688Q 1.000 100 0% 145 33.8% 0 - probably_damaging(0.999) - - NULL ANK2 287 genome.wustl.edu 37 4 114279361 114279361 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001148.4 +1 reviewed p.S3196L 0.003 64 0% 61 36.1% 1 100% benign(0.21) - - NULL UGT8 7368 genome.wustl.edu 37 4 115586850 115586850 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001128174.1 +1 validated p.K327R 1.000 355 0% 546 42.1% 18 38.8% probably_damaging(0.965) tolerated(1) neutral(0.407) HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase UGT8 7368 genome.wustl.edu 37 4 115597163 115597163 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001128174.1 +1 validated p.D449Y 1.000 239 0.4% 269 36.1% 31 35.4% possibly_damaging(0.456) deleterious(0) deleterious(0.594) HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase NDST4 64579 genome.wustl.edu 37 4 115769381 115769381 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_022569.1 -1 provisional p.G644* 1.000 545 0% 706 15.9% 0 - - - - HMMPfam_Sulfotransfer_1,superfamily_SSF52540 NDST3 9348 genome.wustl.edu 37 4 119145715 119145715 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004784.2 +1 reviewed p.L537M 1.000 238 0% 295 10.8% 0 - probably_damaging(0.999) deleterious(0.04) deleterious(0.839) NULL PRSS12 8492 genome.wustl.edu 37 4 119229694 119229694 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003619.2 -1 reviewed p.E510* 1.000 436 0.2% 581 42.7% 2 50% - - - HMMPfam_SRCR,PatternScan_SRCR_1,HMMSmart_SM00202,superfamily_SRCR-like SEC24D 9871 genome.wustl.edu 37 4 119649723 119649723 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014822.2 -1 reviewed p.S984* 1.000 490 0% 606 38% 25 52% - - - superfamily_C-terminal gelsolin-like domain of Sec23/24 SYNPO2 171024 genome.wustl.edu 37 4 119978972 119978972 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000504178 +1 known p.A1117T 0.990 59 0% 73 53.4% 1 0% - - - NULL MAD2L1 4085 genome.wustl.edu 37 4 120987821 120987821 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002358.3 -1 reviewed p.F23L 1.000 41 0% 30 36.7% 17 35.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HORMA,superfamily_The spindle assembly checkpoint protein mad2 EXOSC9 5393 genome.wustl.edu 37 4 122723077 122723077 + Splice_Site SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001034194.1 +1 validated e2+1 1.000 160 0% 195 46.2% 0 - - - - - EXOSC9 5393 genome.wustl.edu 37 4 122724099 122724099 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001034194.1 +1 validated p.R104Q 1.000 284 0% 305 36.1% 17 52.9% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RNase_PH,superfamily_Ribosomal_S5_D2-typ_fold TRPC3 7222 genome.wustl.edu 37 4 122825495 122825495 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001130698.1 -1 validated p.S745 1.000 202 0% 221 14.5% 0 - - - - NULL KIAA1109 84162 genome.wustl.edu 37 4 123171613 123171613 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015312.3 +1 reviewed p.S1936Y 1.000 206 0% 239 15.5% 2 0% probably_damaging(0.991) deleterious(0.01) deleterious(0.850) NULL KIAA1109 84162 genome.wustl.edu 37 4 123178643 123178643 + Silent SNP C C T rs79188364 TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000419325 +1 known p.R162* 1.000 190 0% 226 38.5% 12 58.3% - - - NULL IL21 59067 genome.wustl.edu 37 4 123536856 123536856 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_021803.2 -1 validated p.R114I 0.003 577 0% 700 44.9% 0 - possibly_damaging(0.489) deleterious(0.01) deleterious(0.568) NULL SPRY1 10252 genome.wustl.edu 37 4 124322781 124322781 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005841.1 +1 validated p.S12L 0.994 174 0% 220 46.4% 21 23.8% benign(0.04) deleterious(0) neutral(0.447) NULL FAT4 79633 genome.wustl.edu 37 4 126328246 126328246 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024582.4 +1 validated p.K1840T 0.845 83 0% 124 49.2% 1 100% benign(0) tolerated(0.64) neutral(0.003) superfamily_Cadherin-like FAT4 79633 genome.wustl.edu 37 4 126369689 126369689 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024582.4 +1 validated p.S2506 0.000 127 0% 173 14.5% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like FAT4 79633 genome.wustl.edu 37 4 126370448 126370448 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024582.4 +1 validated p.V2759 0.045 60 0% 73 43.8% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like FAT4 79633 genome.wustl.edu 37 4 126370594 126370594 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024582.4 +1 validated p.R2808I 0.899 125 0% 117 42.7% 0 - possibly_damaging(0.77) tolerated(0.38) neutral(0.303) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like FAT4 79633 genome.wustl.edu 37 4 126412861 126412861 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024582.4 +1 validated p.E4962* 1.000 108 0% 125 48.8% 3 33.3% - - - NULL INTU 27152 genome.wustl.edu 37 4 128608887 128608887 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015693.3 +1 validated p.F438L 1.000 264 0% 320 41.9% 2 0% possibly_damaging(0.462) tolerated(0.45) neutral(0.164) NULL INTU 27152 genome.wustl.edu 37 4 128625422 128625422 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015693.3 +1 validated p.L515V 0.739 680 0% 661 44% 2 50% probably_damaging(0.978) deleterious(0.02) deleterious(0.803) NULL HSPA4L 22824 genome.wustl.edu 37 4 128732660 128732660 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014278.2 +1 provisional p.R483C 1.000 290 0% 369 39.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HSP70,superfamily_SSF100920 HSPA4L 22824 genome.wustl.edu 37 4 128753852 128753852 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014278.2 +1 provisional p.F781L 0.996 132 0% 187 35.8% 0 - benign(0) tolerated(0.74) neutral(0.002) superfamily_SSF100934 HSPA4L 22824 genome.wustl.edu 37 4 128754004 128754004 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014278.2 +1 provisional p.S832F 0.005 70 0% 142 45.1% 5 80% benign(0.345) tolerated(0.08) neutral(0.409) NULL SCLT1 132320 genome.wustl.edu 37 4 129857855 129857855 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_144643.2 -1 validated p.T595M 0.997 502 0% 624 39.6% 4 100% probably_damaging(1) deleterious(0.05) deleterious(0.845) NULL SCLT1 132320 genome.wustl.edu 37 4 130003525 130003525 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_144643.2 -1 validated p.R13Q 1.000 178 0% 241 39% 1 100% benign(0.001) tolerated(0.81) neutral(0.001) NULL PCDH18 54510 genome.wustl.edu 37 4 138453049 138453049 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_019035.3 -1 reviewed p.R65Q 0.980 221 0% 260 44.2% 2 0% probably_damaging(1) tolerated(0.1) deleterious(0.786) HMMSmart_SM00112,HMMPfam_Cadherin_2,superfamily_Cadherin-like ENSG00000206722 0 genome.wustl.edu 37 4 140177904 140177904 + RNA SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000383995 -1 novel NULL 0.032 21 0% 32 46.9% 0 - - - - - SCOC 60592 genome.wustl.edu 37 4 141264773 141264773 + Splice_Site SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032547.2 +1 reviewed e1-2 0.286 290 0% 368 39.9% 1 100% - - - - CLGN 1047 genome.wustl.edu 37 4 141311792 141311792 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001130675.1 -1 reviewed p.S581* 1.000 566 0% 689 38.6% 3 0% - - - NULL INPP4B 8821 genome.wustl.edu 37 4 143033799 143033799 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001101669.1 -1 reviewed p.R724S 0.001 227 0% 363 44.4% 6 16.6% benign(0.101) tolerated(0.97) neutral(0.007) NULL GAB1 2549 genome.wustl.edu 37 4 144359708 144359708 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_207123.2 +1 reviewed p.R384C 0.995 175 0% 313 45.7% 8 62.5% probably_damaging(1) deleterious(0) deleterious(0.945) NULL GAB1 2549 genome.wustl.edu 37 4 144381519 144381519 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_207123.2 +1 reviewed p.S591Y 1.000 116 0% 156 51.3% 3 66.6% possibly_damaging(0.712) tolerated(1) neutral(0.258) NULL SMARCA5 8467 genome.wustl.edu 37 4 144449113 144449113 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003601.2 +1 reviewed p.K298N 1.000 199 0% 263 40.7% 4 50% probably_damaging(0.998) deleterious(0.03) deleterious(0.839) HMMPfam_SNF2_N,HMMSmart_DEXDc,superfamily_SSF52540 FREM3 166752 genome.wustl.edu 37 4 144620286 144620286 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000329798 -1 known p.D515Y 1.000 92 0% 126 47.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL FREM3 166752 genome.wustl.edu 37 4 144620823 144620823 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000329798 -1 known p.E336K 0.999 21 0% 27 40.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL GYPE 2996 genome.wustl.edu 37 4 144826644 144826644 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002102.3 -1 reviewed p.I6T 0.000 381 0.3% 497 27% 0 - benign(0.037) deleterious(0) neutral(0.447) NULL GYPB 2994 genome.wustl.edu 37 4 144921578 144921578 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000283128 -1 known p.E63* 0.004 68 0% 48 47.9% 0 - - - - HMMPfam_Glycophorin_A HHIP 64399 genome.wustl.edu 37 4 145567881 145567881 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_022475.1 +1 reviewed p.F18L 1.000 90 0% 114 17.5% 5 0% benign(0.138) tolerated(0.32) neutral(0.036) HMMPfam_Folate_rec ANAPC10 10393 genome.wustl.edu 37 4 146017264 146017264 + Splice_Site SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014885.3 -1 validated e1-1 0.221 186 0% 251 52.2% 0 - - - - - ABCE1 6059 genome.wustl.edu 37 4 146025661 146025661 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001040876.1 +1 reviewed p.R33* 1.000 169 0% 240 40.4% 30 43.3% - - - HMMPfam_RLI,superfamily_4Fe-4S ferredoxins OTUD4 54726 genome.wustl.edu 37 4 146062584 146062584 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001102653.1 -1 reviewed p.R612Q 1.000 201 0% 249 37.3% 17 17.6% possibly_damaging(0.674) deleterious(0.01) deleterious(0.645) NULL C4orf51 646603 genome.wustl.edu 37 4 146651091 146651091 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001080531.1 +1 inferred p.R159* 0.000 179 0% 232 23.3% 0 - - - - NULL EDNRA 1909 genome.wustl.edu 37 4 148461553 148461553 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001957.3 +1 reviewed p.I353 1.000 272 0% 314 37.6% 2 0% - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like PRMT10 90826 genome.wustl.edu 37 4 148594151 148594151 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_138364.2 -1 provisional p.T234 1.000 178 0% 281 42.3% 7 42.8% - - - superfamily_S-adenosyl-L-methionine-dependent methyltransferases PRMT10 90826 genome.wustl.edu 37 4 148601559 148601559 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_138364.2 -1 provisional p.D85Y 1.000 135 0% 163 47.9% 4 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_TPR-like ARHGAP10 79658 genome.wustl.edu 37 4 148796254 148796254 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024605.3 +1 validated p.R262L 1.000 196 0% 213 39.9% 5 60% probably_damaging(0.991) tolerated(0.32) neutral(0.468) NULL MAB21L2 10586 genome.wustl.edu 37 4 151504358 151504358 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006439.4 +1 reviewed p.I59 1.000 35 0% 50 36% 0 - - - - HMMPfam_Mab-21 MAB21L2 10586 genome.wustl.edu 37 4 151504523 151504523 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006439.4 +1 reviewed p.V114 1.000 41 0% 69 36.2% 0 - - - - HMMPfam_Mab-21 LRBA 987 genome.wustl.edu 37 4 151935596 151935596 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006726.2 -1 validated p.E67* 1.000 93 0% 93 44.1% 0 - - - - NULL PET112 5188 genome.wustl.edu 37 4 152629244 152629244 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004564.2 -1 validated p.L258S 1.000 94 0% 129 51.9% 18 38.8% - - - HMMPfam_GatB_N FBXW7 55294 genome.wustl.edu 37 4 153268097 153268097 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_033632.2 -1 reviewed p.W237* 1.000 353 0% 450 43.3% 2 0% - - - superfamily_WD40 repeat-like FBXW7 55294 genome.wustl.edu 37 4 153332524 153332524 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_033632.2 -1 reviewed p.T144 0.997 260 0.4% 303 40.9% 8 75% - - - superfamily_WD40 repeat-like MND1 84057 genome.wustl.edu 37 4 154315478 154315478 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032117.2 +1 validated p.R114Q 0.987 339 0% 392 41.1% 9 44.4% probably_damaging(0.996) tolerated(0.06) deleterious(0.784) HMMPfam_Mnd1 MND1 84057 genome.wustl.edu 37 4 154335942 154335942 + Missense_Mutation SNP T T A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032117.2 +1 validated p.F184Y 1.000 95 0% 151 47.7% 0 - benign(0.016) deleterious(0) neutral(0.445) HMMPfam_Mnd1 KIAA0922 23240 genome.wustl.edu 37 4 154506010 154506010 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015196.3 +1 validated p.I361L 0.001 200 0% 280 12.1% 2 0% benign(0.023) tolerated(0.25) neutral(0.038) NULL TLR2 7097 genome.wustl.edu 37 4 154626240 154626240 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003264.3 +1 reviewed p.E727D 1.000 190 0% 204 47.5% 2 50% probably_damaging(0.995) deleterious(0.02) deleterious(0.841) HMMPfam_TIR,HMMSmart_TIR,superfamily_TIR PLRG1 5356 genome.wustl.edu 37 4 155468997 155468997 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002669.2 -1 provisional p.R42L 0.866 172 0% 235 43.8% 54 50% benign(0) tolerated(1) - NULL FGB 2244 genome.wustl.edu 37 4 155490734 155490734 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005141.4 +1 reviewed p.E343* 1.000 162 0% 181 11.6% 0 - - - - HMMPfam_Fibrinogen_C,HMMSmart_SM00186,superfamily_Fibrinogen C-terminal domain-like FGA 2243 genome.wustl.edu 37 4 155507996 155507996 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000508.3 -1 reviewed p.K195N 0.910 172 0% 280 29.3% 0 - probably_damaging(0.979) deleterious(0.01) deleterious(0.828) HMMPfam_Fib_alpha FGG 2266 genome.wustl.edu 37 4 155528033 155528033 + Missense_Mutation SNP C C T rs121913089 TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_021870.2 -1 reviewed p.G318D 1.000 204 0% 300 42.7% 0 - probably_damaging(1) tolerated(0.07) deleterious(0.819) HMMPfam_Fibrinogen_C,HMMSmart_SM00186,superfamily_Fibrinogen C-terminal domain-like RBM46 166863 genome.wustl.edu 37 4 155717921 155717921 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_144979.3 +1 validated p.I6T 0.235 97 0% 146 50.7% 0 - benign(0) tolerated(1) - NULL MAP9 79884 genome.wustl.edu 37 4 156269057 156269057 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001039580.1 -1 validated p.E608* 1.000 216 0.5% 260 38.1% 2 0% - - - NULL MAP9 79884 genome.wustl.edu 37 4 156281416 156281416 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001039580.1 -1 validated p.K318N 0.003 243 0% 376 47.9% 3 33.3% probably_damaging(0.998) tolerated(0.17) deleterious(0.533) NULL MAP9 79884 genome.wustl.edu 37 4 156294312 156294312 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001039580.1 -1 validated p.L153I 0.059 69 0% 90 13.3% 1 100% benign(0) tolerated(0.19) neutral(0.050) NULL GUCY1B3 2983 genome.wustl.edu 37 4 156698690 156698690 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000857.2 +1 validated p.E65* 1.000 384 0% 492 17.3% 4 0% - - - HMMPfam_HNOB,superfamily_H-NOX domain FAM198B 51313 genome.wustl.edu 37 4 159076935 159076935 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001128424.1 -1 validated p.S318Y 0.065 110 0% 180 42.2% 11 0% benign(0.052) tolerated(1) neutral(0.003) NULL FNIP2 57600 genome.wustl.edu 37 4 159747080 159747080 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020840.1 +1 validated p.S40 0.056 325 0% 416 12.7% 5 20% - - - NULL FNIP2 57600 genome.wustl.edu 37 4 159789744 159789744 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020840.1 +1 validated p.E652D 0.000 81 0% 87 46% 0 - benign(0.083) tolerated(0.41) neutral(0.021) NULL C4orf45 152940 genome.wustl.edu 37 4 159836343 159836343 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152543.2 -1 validated p.P175 0.000 332 0% 445 43.4% 0 - - - - NULL RAPGEF2 9693 genome.wustl.edu 37 4 160253611 160253611 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014247.2 +1 validated p.E472* 1.000 102 0% 89 44.9% 2 0% - - - superfamily_PDZ,superfamily_Ras_GEF FSTL5 56884 genome.wustl.edu 37 4 162459388 162459388 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020116.3 -1 validated p.I414 0.539 279 0% 389 46.5% 0 - - - - HMMSmart_IGc2,HMMPfam_I-set,superfamily_SSF48726 NAF1 92345 genome.wustl.edu 37 4 164050142 164050142 + Silent SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_138386.2 -1 validated p.L464 0.000 21 0% 29 24.1% 3 66.6% - - - NULL NPY1R 4886 genome.wustl.edu 37 4 164246499 164246499 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000909.4 -1 validated p.A371T 0.007 218 0.5% 269 42.8% 0 - benign(0) deleterious(0.03) neutral(0.364) NULL TKTL2 84076 genome.wustl.edu 37 4 164394337 164394337 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032136.4 -1 validated p.D184N 0.980 62 0% 67 37.3% 0 - probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_Transketolase_N,superfamily_SSF52518 TRIM60 166655 genome.wustl.edu 37 4 165961487 165961487 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152620.2 +1 reviewed p.R88I 0.135 175 0% 209 46.4% 0 - probably_damaging(0.993) deleterious(0.01) deleterious(0.856) superfamily_SSF57850 TRIM75 391714 genome.wustl.edu 37 4 165980593 165980593 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000322402 +1 known p.E98D 0.358 55 0% 82 37.8% 0 - - - - HMMPfam_zf-B_box,HMMSmart_BBOX,superfamily_SSF57850 TRIM75 391714 genome.wustl.edu 37 4 165980727 165980727 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000322402 +1 known p.R143I 0.000 86 0% 124 37.9% 0 - - - - NULL TLL1 7092 genome.wustl.edu 37 4 166976235 166976235 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_012464.3 +1 reviewed p.R511I 1.000 190 0% 252 42.1% 0 - possibly_damaging(0.594) tolerated(0.07) deleterious(0.524) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain DDX60 55601 genome.wustl.edu 37 4 169190102 169190102 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017631.5 -1 validated p.E897* 1.000 117 0% 178 43.3% 1 0% - - - HMMPfam_DEAD,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases DDX60 55601 genome.wustl.edu 37 4 169197182 169197182 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017631.5 -1 validated p.S710Y 0.965 224 0% 276 15.6% 1 0% possibly_damaging(0.903) tolerated(0.16) neutral(0.417) superfamily_P-loop containing nucleoside triphosphate hydrolases DDX60L 91351 genome.wustl.edu 37 4 169337909 169337909 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001012967.1 -1 validated p.E884K 1.000 229 0% 255 45.1% 1 100% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_DEAD,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases PALLD 23022 genome.wustl.edu 37 4 169842851 169842851 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016081.3 +1 reviewed p.R989Q 1.000 58 0% 94 51.1% 225 29.7% possibly_damaging(0.927) deleterious(0.01) deleterious(0.780) HMMSmart_IGc2,HMMPfam_I-set,superfamily_SSF48726 PALLD 23022 genome.wustl.edu 37 4 169846183 169846183 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000503290 +1 known p.E141* 1.000 201 0% 242 45.5% 231 31.1% probably_damaging(1) tolerated(0.14) deleterious(0.750) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin AADAT 51166 genome.wustl.edu 37 4 171010819 171010819 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016228.3 -1 reviewed p.T8M 0.931 156 0% 213 46% 16 43.7% probably_damaging(0.995) deleterious(0.02) deleterious(0.841) superfamily_PLP-dependent transferases GALNTL6 442117 genome.wustl.edu 37 4 173269816 173269816 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001034845.2 +1 validated p.L177I 1.000 161 0% 265 19.6% 0 - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_Glycos_transf_2,superfamily_Nucleotide-diphospho-sugar transferases GALNT7 51809 genome.wustl.edu 37 4 174213297 174213297 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000505308 +1 known p.R6* 1.000 169 0% 203 46.8% 62 43.5% benign(0.039) tolerated(0.14) neutral(0.252) superfamily_Nucleotide-diphospho-sugar transferases SAP30 8819 genome.wustl.edu 37 4 174294638 174294638 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003864.3 +1 reviewed p.S138* 1.000 265 0.4% 399 45.6% 10 10% - - - NULL FBXO8 26269 genome.wustl.edu 37 4 175160315 175160315 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_012180.2 -1 reviewed p.T201K 1.000 142 0% 151 37.7% 4 75% benign(0) tolerated(0.12) neutral(0.261) HMMPfam_Sec7,HMMSmart_SM00222,superfamily_Sec7 domain ADAM29 11086 genome.wustl.edu 37 4 175897708 175897708 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001130703.1 +1 reviewed p.E344 0.000 129 0% 183 47.5% 0 - - - - "HMMPfam_Reprolysin,superfamily_Metalloproteases (""zincins"") catalytic domain" WDR17 116966 genome.wustl.edu 37 4 177093634 177093634 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_170710.4 +1 reviewed p.K1110Q 1.000 158 0% 225 44.9% 0 - possibly_damaging(0.578) tolerated(0.28) neutral(0.230) NULL ODZ3 55714 genome.wustl.edu 37 4 183721204 183721204 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001080477.1 +1 provisional p.F2600 0.998 5 0.000 14 0.500 6 0% - - - NULL WWC2 80014 genome.wustl.edu 37 4 184130106 184130106 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024949.5 +1 validated p.F150L 1.000 142 0% 152 43.4% 5 60% benign(0.035) tolerated(0.68) neutral(0.004) NULL CDKN2AIP 55602 genome.wustl.edu 37 4 184366689 184366689 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017632.2 +1 provisional p.Y92H 1.000 117 0% 122 23% 11 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL STOX2 56977 genome.wustl.edu 37 4 184930964 184930964 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020225.1 +1 provisional p.E325K 1.000 38 0% 41 31.7% 1 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL HELT 391723 genome.wustl.edu 37 4 185941891 185941891 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001029887.1 +1 provisional p.N317H 0.941 34 0% 46 45.7% 0 - benign(0.156) deleterious(0.02) neutral(0.397) NULL KIAA1430 57587 genome.wustl.edu 37 4 186111664 186111664 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020827.1 -1 validated p.S229 0.000 358 0.6% 471 11.5% 11 9% - - - NULL KIAA1430 57587 genome.wustl.edu 37 4 186111752 186111752 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020827.1 -1 validated p.S200L 0.123 298 0% 361 40.4% 10 40% possibly_damaging(0.67) tolerated(0.17) neutral(0.296) NULL SNX25 83891 genome.wustl.edu 37 4 186180101 186180101 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_031953.2 +1 validated p.E41A 1.000 189 0% 250 46.4% 1 100% possibly_damaging(0.908) tolerated(0.94) neutral(0.361) HMMPfam_PXA SNX25 83891 genome.wustl.edu 37 4 186253882 186253882 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_031953.2 +1 validated p.S464Y 1.000 137 0% 192 31.2% 4 50% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL LRP2BP 55805 genome.wustl.edu 37 4 186294107 186294107 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018409.3 -1 validated p.E236* 0.831 99 0% 166 41.6% 9 33.3% - - - HMMPfam_Sel1,HMMSmart_SM00671,superfamily_HCP-like UFSP2 55325 genome.wustl.edu 37 4 186339610 186339610 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018359.3 -1 validated p.K106N 1.000 389 0% 450 44.7% 23 65.2% possibly_damaging(0.948) tolerated(0.39) neutral(0.407) NULL SORBS2 8470 genome.wustl.edu 37 4 186544548 186544548 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_021069.4 -1 reviewed p.E675K 1.000 328 0.3% 436 44% 1 0% probably_damaging(0.991) deleterious(0) deleterious(0.889) PatternScan_ZINC_FINGER_C2H2_1 FAT1 2195 genome.wustl.edu 37 4 187538991 187538991 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005245.3 -1 reviewed p.R2917* 0.975 155 0% 278 38.8% 23 0% - - - superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like FAT1 2195 genome.wustl.edu 37 4 187542544 187542544 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005245.3 -1 reviewed p.I1732M 0.001 147 0% 164 47% 4 50% benign(0) tolerated(0.21) neutral(0.044) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like FAT1 2195 genome.wustl.edu 37 4 187549315 187549315 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005245.3 -1 reviewed p.I1601 0.082 62 0% 68 47.1% 3 66.6% - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like FAT1 2195 genome.wustl.edu 37 4 187630313 187630313 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005245.3 -1 reviewed p.L223 0.045 95 0% 121 43% 12 0% - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like ZFP42 132625 genome.wustl.edu 37 4 188924165 188924165 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_174900.3 +1 validated p.F68L 0.001 140 0% 173 37% 0 - probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL ZFP42 132625 genome.wustl.edu 37 4 188924786 188924786 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_174900.3 +1 validated p.F275 0.077 56 0% 71 47.9% 0 - - - - HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers TRIML1 339976 genome.wustl.edu 37 4 189061727 189061727 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_178556.3 +1 provisional p.E152* 1.000 394 0% 487 23.4% 0 - - - - NULL SLC9A3 6550 genome.wustl.edu 37 5 476780 476780 + Missense_Mutation SNP T T A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004174.2 -1 validated p.N590Y 0.954 14 0% 30 56.7% 1 100% benign(0.156) deleterious(0.02) neutral(0.397) NULL TERT 7015 genome.wustl.edu 37 5 1260645 1260645 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_198253.2 -1 reviewed p.R972C 0.004 105 0% 93 39.8% 0 - probably_damaging(1) tolerated(0.23) deleterious(0.541) NULL IRX4 50805 genome.wustl.edu 37 5 1878854 1878854 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016358.2 -1 validated p.F263 0.946 17 0% 22 54.5% 0 - - - - NULL C5orf38 153571 genome.wustl.edu 37 5 2755159 2755159 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000397835 +1 known p.R117Q 0.000 113 0% 194 22.7% 0 - unknown(0) - - NULL IRX1 79192 genome.wustl.edu 37 5 3599732 3599732 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024337.3 +1 validated p.D224N 1.000 48 0% 56 64.3% 22 45.4% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL KIAA0947 23379 genome.wustl.edu 37 5 5461439 5461439 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015325.1 +1 validated p.F664L 0.001 101 0% 127 47.2% 5 60% benign(0.035) tolerated(0.52) neutral(0.011) NULL PAPD7 11044 genome.wustl.edu 37 5 6737711 6737711 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006999.4 +1 reviewed p.E19K 1.000 361 0% 437 45.1% 10 70% benign(0.13) tolerated(0.18) neutral(0.067) HMMPfam_NTP_transf_2,superfamily_Nucleotidyltransferase ADCY2 108 genome.wustl.edu 37 5 7695883 7695883 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020546.2 +1 reviewed p.I296 0.026 289 0.7% 401 46.1% 0 - - - - HMMPfam_Guanylate_cyc,HMMSmart_CYCc,superfamily_A/G_cyclase ADCY2 108 genome.wustl.edu 37 5 7698369 7698369 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020546.2 +1 reviewed p.C331G 1.000 221 0% 257 47.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Guanylate_cyc,HMMSmart_CYCc,superfamily_A/G_cyclase MTRR 4552 genome.wustl.edu 37 5 7895928 7895928 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024010.2 +1 reviewed p.T574P 0.863 199 0% 242 39.3% 12 33.3% probably_damaging(0.973) deleterious(0.01) deleterious(0.821) HMMPfam_NAD_binding_1,superfamily_Ferredoxin reductase-like C-terminal NADP-linked domain SEMA5A 9037 genome.wustl.edu 37 5 9122853 9122853 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003966.2 -1 reviewed p.R566* 0.995 23 0% 25 36% 5 0% - - - HMMSmart_TSP1,superfamily_TSP1 SEMA5A 9037 genome.wustl.edu 37 5 9379964 9379964 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003966.2 -1 reviewed p.R32I 0.959 131 0% 178 48.9% 1 0% possibly_damaging(0.925) deleterious(0.02) deleterious(0.756) superfamily_Sema MARCH6 10299 genome.wustl.edu 37 5 10402236 10402236 + Silent SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005885.2 +1 provisional p.T346 0.414 366 0% 473 13.7% 37 16.2% - - - NULL MARCH6 10299 genome.wustl.edu 37 5 10410378 10410378 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005885.2 +1 provisional p.G561R 1.000 83 0% 130 42.3% 65 52.3% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL DNAH5 1767 genome.wustl.edu 37 5 13717498 13717498 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001369.2 -1 reviewed p.E4211* 1.000 60 0% 79 39.2% 1 100% - - - HMMPfam_Dynein_heavy DNAH5 1767 genome.wustl.edu 37 5 13829814 13829814 + Splice_Site SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001369.2 -1 reviewed e38-1 1.000 67 0% 126 37.3% 0 - - - - - ANKH 56172 genome.wustl.edu 37 5 14745985 14745985 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_054027.4 -1 reviewed p.F303 0.999 72 0% 104 41.3% 89 37% - - - HMMPfam_ANKH FAM134B 54463 genome.wustl.edu 37 5 16479066 16479066 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001034850.1 -1 reviewed p.K234T 0.942 138 0% 194 52.1% 2 100% benign(0.334) tolerated(0.31) neutral(0.132) NULL CDH18 1016 genome.wustl.edu 37 5 19473568 19473568 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004934.3 -1 reviewed p.E714K 1.000 401 0% 493 41.4% 0 - possibly_damaging(0.49) tolerated(0.2) neutral(0.212) HMMPfam_Cadherin_C CDH12 1010 genome.wustl.edu 37 5 21752211 21752211 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004061.3 -1 reviewed p.D674N 1.000 301 0% 367 41.1% 1 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Cadherin_C PRDM9 56979 genome.wustl.edu 37 5 23522457 23522457 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020227.2 +1 provisional p.E185* 0.319 222 0% 261 41% 0 - - - - HMMPfam_SSXRD PRDM9 56979 genome.wustl.edu 37 5 23526445 23526445 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020227.2 +1 provisional p.F416L 0.001 334 0.3% 378 39.2% 0 - possibly_damaging(0.662) tolerated(0.45) neutral(0.246) NULL PRDM9 56979 genome.wustl.edu 37 5 23527432 23527432 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020227.2 +1 provisional p.E745D 1.000 177 0% 193 37.8% 0 - possibly_damaging(0.547) deleterious(0.01) deleterious(0.591) superfamily_SSF57667 CDH10 1008 genome.wustl.edu 37 5 24505263 24505263 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006727.2 -1 reviewed p.L451I 0.983 174 0% 245 44.1% 0 - benign(0) tolerated(0.2) neutral(0.049) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin CDH10 1008 genome.wustl.edu 37 5 24537734 24537734 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006727.2 -1 reviewed p.S94Y 1.000 234 0% 255 49% 0 - possibly_damaging(0.901) deleterious(0) deleterious(0.801) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin CDH9 1007 genome.wustl.edu 37 5 26881360 26881360 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016279.3 -1 reviewed p.S752Y 1.000 160 0% 207 44.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin_C CDH9 1007 genome.wustl.edu 37 5 26881462 26881462 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016279.3 -1 reviewed p.R718Q 1.000 311 0% 438 18.3% 0 - benign(0) tolerated(0.67) neutral(0.003) HMMPfam_Cadherin_C CDH9 1007 genome.wustl.edu 37 5 26906108 26906108 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016279.3 -1 reviewed p.T257 0.179 383 0% 450 41.3% 0 - - - - HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin LOC729862 729862 genome.wustl.edu 37 5 28927181 28927181 + RNA SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XR_040872.2 +1 model NULL 0.999 233 0% 340 43.5% 0 - - - - - C5orf22 55322 genome.wustl.edu 37 5 31538508 31538508 + Silent SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018356.2 +1 validated p.A173 0.004 117 0% 137 49.6% 6 16.6% - - - NULL C5orf22 55322 genome.wustl.edu 37 5 31552951 31552951 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018356.2 +1 validated p.R424H 0.000 189 0% 282 43.6% 15 13.3% benign(0.001) tolerated(0.2) neutral(0.049) NULL PDZD2 23037 genome.wustl.edu 37 5 31995715 31995715 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_178140.2 +1 reviewed p.L338F 1.000 285 0% 338 47.6% 0 - probably_damaging(0.999) deleterious(0.04) deleterious(0.839) HMMPfam_PDZ,superfamily_PDZ domain-like PDZD2 23037 genome.wustl.edu 37 5 32052805 32052805 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_178140.2 +1 reviewed p.S585L 1.000 156 0% 224 39.3% 0 - probably_damaging(0.995) deleterious(0.01) deleterious(0.863) superfamily_PDZ domain-like ADAMTS12 81792 genome.wustl.edu 37 5 33596159 33596159 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_030955.2 -1 reviewed p.R845H 1.000 142 0% 200 49% 4 0% probably_damaging(0.994) deleterious(0.02) deleterious(0.835) HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat ADAMTS12 81792 genome.wustl.edu 37 5 33683135 33683135 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_030955.2 -1 reviewed p.L301 0.991 137 0% 105 38.1% 0 - - - - "HMMPfam_Reprolysin,superfamily_Metalloproteases (""zincins"") catalytic domain" RXFP3 51289 genome.wustl.edu 37 5 33937697 33937697 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016568.3 +1 validated p.I284 0.999 27 0% 35 51.4% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 AMACR 23600 genome.wustl.edu 37 5 33998884 33998884 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_203382.2 -1 reviewed p.I147T 0.000 177 0% 249 22.5% 10 40% benign(0.036) deleterious(0) neutral(0.447) NULL AMACR 23600 genome.wustl.edu 37 5 34005973 34005973 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014324.5 -1 reviewed p.E93D 0.725 92 0% 129 48.1% 5 60% benign(0.084) tolerated(0.34) neutral(0.029) HMMPfam_CoA_transf_3,superfamily_CoA-transferase family III (CaiB/BaiF) RAI14 26064 genome.wustl.edu 37 5 34757620 34757620 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001145525.1 +1 validated p.E31D 1.000 106 0% 115 40.9% 90 36.6% benign(0.002) deleterious(0.05) neutral(0.345) HMMPfam_Ank,superfamily_ANK RAI14 26064 genome.wustl.edu 37 5 34823927 34823927 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001145525.1 +1 validated p.E663 1.000 94 0% 123 45.5% 30 26.6% - - - NULL DNAJC21 134218 genome.wustl.edu 37 5 34939102 34939102 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_194283.3 +1 validated p.D295Y 0.014 151 0% 202 26.7% 42 38% possibly_damaging(0.539) deleterious(0.03) deleterious(0.547) NULL DNAJC21 134218 genome.wustl.edu 37 5 34945048 34945048 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_194283.3 +1 validated p.E354* 1.000 145 0% 218 35.8% 5 20% - - - NULL AGXT2 64902 genome.wustl.edu 37 5 35037140 35037140 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_031900.3 -1 reviewed p.L131 0.002 90 0% 124 47.6% 0 - - - - HMMPfam_Aminotran_3,superfamily_PyrdxlP-dep_Trfase_major PRLR 5618 genome.wustl.edu 37 5 35065569 35065569 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000949.4 -1 validated p.E497D 0.023 121 0% 193 46.6% 0 - benign(0.016) tolerated(0.5) neutral(0.011) NULL PRLR 5618 genome.wustl.edu 37 5 35065792 35065792 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000949.4 -1 validated p.Q423P 0.011 204 0% 260 45% 0 - possibly_damaging(0.444) tolerated(0.2) neutral(0.194) NULL IL7R 3575 genome.wustl.edu 37 5 35867461 35867461 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002185.2 +1 reviewed p.Y92C 0.871 201 0% 258 51.6% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL IL7R 3575 genome.wustl.edu 37 5 35867483 35867483 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002185.2 +1 reviewed p.F99L 0.916 223 0% 270 36.7% 0 - probably_damaging(0.973) tolerated(0.1) deleterious(0.702) NULL IL7R 3575 genome.wustl.edu 37 5 35871249 35871249 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002185.2 +1 reviewed p.K157N 0.862 150 0% 182 40.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_fn3,superfamily_Fibronectin type III IL7R 3575 genome.wustl.edu 37 5 35876393 35876393 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002185.2 +1 reviewed p.K395N 0.001 143 0% 180 56.7% 0 - benign(0.076) deleterious(0.05) neutral(0.351) NULL UGT3A2 167127 genome.wustl.edu 37 5 36051988 36051988 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_174914.3 -1 validated p.E99* 0.016 138 0% 178 43.8% 0 - - - - HMMPfam_UDPGT,superfamily_SSF53756 RANBP3L 202151 genome.wustl.edu 37 5 36257579 36257579 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_145000.3 -1 validated p.F250C 0.154 439 0% 488 45.1% 0 - probably_damaging(0.987) tolerated(0.14) deleterious(0.686) NULL SLC1A3 6507 genome.wustl.edu 37 5 36686290 36686290 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004172.4 +1 reviewed p.E516D 1.000 122 0% 131 48.1% 0 - probably_damaging(1) tolerated(0.51) deleterious(0.509) NULL NIPBL 25836 genome.wustl.edu 37 5 37026330 37026330 + Splice_Site SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_133433.3 +1 reviewed e30-1 1.000 121 0% 154 38.3% 0 - - - - - C5orf42 65250 genome.wustl.edu 37 5 37107881 37107881 + Splice_Site SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_023073.3 -1 predicted e34-1 0.998 25 0% 44 43.2% 1 0% - - - - C5orf42 65250 genome.wustl.edu 37 5 37244664 37244664 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000508244 -1 known p.R128I 1.000 149 0% 183 10.4% 0 - probably_damaging(0.991) deleterious(0.01) deleterious(0.850) NULL WDR70 55100 genome.wustl.edu 37 5 37605190 37605190 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018034.2 +1 provisional p.E314D 1.000 163 0% 174 41.4% 38 47.3% benign(0) tolerated(0.62) neutral(0.004) superfamily_WD40_like LIFR 3977 genome.wustl.edu 37 5 38489264 38489264 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001127671.1 -1 reviewed p.E751K 1.000 251 0% 270 40.4% 0 - possibly_damaging(0.68) tolerated(0.57) neutral(0.248) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III RICTOR 253260 genome.wustl.edu 37 5 38947466 38947466 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152756.3 -1 validated p.R1405Q 1.000 154 0% 188 38.8% 10 20% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_ARM repeat FYB 2533 genome.wustl.edu 37 5 39119000 39119000 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001465.3 -1 validated p.L793I 1.000 486 0% 650 41.8% 2 0% possibly_damaging(0.638) tolerated(0.32) neutral(0.247) superfamily_SH3-domain,HMMPfam_SH3_2 FYB 2533 genome.wustl.edu 37 5 39202696 39202696 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001465.3 -1 validated p.E123* 1.000 260 0.4% 349 47.6% 0 - - - - NULL C9 735 genome.wustl.edu 37 5 39311424 39311424 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001737.3 -1 reviewed p.R309I 1.000 288 0% 355 45.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MACPF,HMMSmart_MACPF C9 735 genome.wustl.edu 37 5 39316047 39316047 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001737.3 -1 reviewed p.N234H 0.001 249 0% 334 45.5% 0 - benign(0.011) tolerated(0.12) neutral(0.261) NULL C9 735 genome.wustl.edu 37 5 39341357 39341357 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001737.3 -1 reviewed p.N123D 1.000 89 0% 160 51.2% 0 - benign(0.392) tolerated(0.28) neutral(0.157) HMMPfam_Ldl_recept_a,HMMSmart_LDLa,PatternScan_LDLRA_1,superfamily_LDL_rcpt_classA_cys-rich CARD6 84674 genome.wustl.edu 37 5 40843637 40843637 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032587.3 +1 reviewed p.D223Y 0.515 118 0% 149 47.7% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL C6 729 genome.wustl.edu 37 5 41181626 41181626 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000065.2 -1 reviewed p.F254L 1.000 238 0% 278 46.8% 0 - benign(0.024) tolerated(0.3) neutral(0.030) NULL OXCT1 5019 genome.wustl.edu 37 5 41749686 41749686 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000436.3 -1 reviewed p.E454D 0.995 412 0% 489 46% 19 42.1% benign(0) tolerated(0.27) neutral(0.034) HMMPfam_CoA_trans,superfamily_SSF100950 ZNF131 7690 genome.wustl.edu 37 5 43162022 43162022 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003432.1 +1 validated p.R314Q 1.000 49 0% 58 39.7% 3 33.3% probably_damaging(0.994) deleterious(0.03) deleterious(0.817) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 C5orf28 64417 genome.wustl.edu 37 5 43446451 43446451 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_022483.4 -1 validated p.S174Y 1.000 178 0% 261 47.1% 14 28.5% benign(0.163) tolerated(0.09) neutral(0.311) NULL HCN1 348980 genome.wustl.edu 37 5 45645425 45645425 + Silent SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_021072.2 -1 validated p.L237 1.000 169 0% 172 46.5% 0 - - - - HMMPfam_Ion_trans,superfamily_SSF81324 ISL1 3670 genome.wustl.edu 37 5 50685598 50685598 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002202.2 +1 reviewed p.C199 1.000 30 0% 55 45.5% 0 - - - - HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like ITGA1 3672 genome.wustl.edu 37 5 52201674 52201674 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_181501.1 +1 reviewed p.Q464R 1.000 194 0% 244 49.2% 6 0% benign(0.106) tolerated(0.26) neutral(0.042) HMMSmart_Int_alpha,superfamily_SSF69318 ITGA1 3672 genome.wustl.edu 37 5 52240815 52240815 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_181501.1 +1 reviewed p.R1110W 0.998 214 0% 258 39.5% 2 0% probably_damaging(0.977) deleterious(0.02) deleterious(0.802) superfamily_SSF69179 ITGA2 3673 genome.wustl.edu 37 5 52360787 52360787 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002203.3 +1 reviewed p.E550* 0.998 245 0% 250 42% 1 0% - - - HMMSmart_SM00191,superfamily_Integrin alpha N-terminal domain ESM1 11082 genome.wustl.edu 37 5 54275225 54275225 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_007036.4 -1 reviewed p.E164* 1.000 196 0% 272 37.5% 1 0% - - - NULL DHX29 54505 genome.wustl.edu 37 5 54572987 54572987 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_019030.2 -1 validated p.Y745H 1.000 235 0% 236 42.4% 4 25% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_DEXDc,superfamily_SSF52540 SKIV2L2 23517 genome.wustl.edu 37 5 54635878 54635878 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015360.4 +1 validated p.I186L 1.000 293 0% 361 49.3% 11 72.7% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_DEAD,HMMSmart_DEXDc,superfamily_SSF52540 IL6ST 3572 genome.wustl.edu 37 5 55237406 55237406 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002184.2 -1 reviewed p.S754L 0.792 297 0% 328 45.4% 38 44.7% possibly_damaging(0.8) deleterious(0.01) deleterious(0.707) NULL MAP3K1 4214 genome.wustl.edu 37 5 56176545 56176545 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005921.1 +1 validated p.S699G 0.999 304 0% 361 46% 17 35.2% possibly_damaging(0.9) deleterious(0.03) deleterious(0.721) NULL MAP3K1 4214 genome.wustl.edu 37 5 56178041 56178041 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005921.1 +1 validated p.R1005I 0.997 152 0% 160 18.1% 22 18.1% benign(0.071) deleterious(0.02) neutral(0.388) NULL GPBP1 65056 genome.wustl.edu 37 5 56531795 56531795 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001127235.2 +1 validated p.P138 0.854 459 0% 506 26.5% 43 23.2% - - - NULL PLK2 10769 genome.wustl.edu 37 5 57750765 57750765 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006622.2 -1 validated p.M613I 1.000 228 0% 282 44.3% 16 18.7% benign(0.042) tolerated(0.54) neutral(0.010) HMMPfam_POLO_box,superfamily_SSF82615 PLK2 10769 genome.wustl.edu 37 5 57751158 57751158 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006622.2 -1 validated p.T570M 1.000 157 0% 188 47.3% 14 28.5% probably_damaging(0.984) deleterious(0.01) deleterious(0.836) HMMPfam_POLO_box,superfamily_SSF82615 PLK2 10769 genome.wustl.edu 37 5 57751604 57751604 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006622.2 -1 validated p.L463I 1.000 126 0% 126 46.8% 23 26% possibly_damaging(0.496) tolerated(0.36) neutral(0.185) NULL PLK2 10769 genome.wustl.edu 37 5 57754906 57754906 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006622.2 -1 validated p.K95T 1.000 372 0% 503 44.5% 4 50% possibly_damaging(0.939) deleterious(0) deleterious(0.829) HMMSmart_S_TKc,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase RAB3C 115827 genome.wustl.edu 37 5 57913579 57913579 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_138453.2 +1 provisional p.S45Y 1.000 102 0% 148 41.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_RAB,HMMPfam_Ras,superfamily_SSF52540 ELOVL7 79993 genome.wustl.edu 37 5 60060157 60060157 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001104558.1 -1 validated p.I132 1.000 147 0% 186 43% 0 - - - - HMMPfam_ELO C5orf43 643155 genome.wustl.edu 37 5 60455812 60455812 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001048249.3 -1 validated p.E63* 1.000 679 0% 900 43.7% 27 37% - - - NULL ZSWIM6 57688 genome.wustl.edu 37 5 60817166 60817166 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020928.1 +1 provisional p.K470N 1.000 191 0% 216 41.2% 17 47% possibly_damaging(0.484) tolerated(0.2) neutral(0.210) NULL TRIM23 373 genome.wustl.edu 37 5 64887675 64887675 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001656.3 -1 reviewed p.R549Q 1.000 164 0% 226 40.3% 10 10% probably_damaging(0.997) tolerated(0.06) deleterious(0.788) HMMSmart_SM00175,HMMSmart_SM00178,HMMSmart_SM00177,PatternScan_ARF,HMMPfam_Arf,superfamily_P-loop containing nucleoside triphosphate hydrolases C5orf44 80006 genome.wustl.edu 37 5 64960034 64960034 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000415825 +1 known p.I4M 1.000 82 0% 149 47% 0 - - - - NULL NLN 57486 genome.wustl.edu 37 5 65105431 65105431 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000509935 +1 known p.R136* 0.291 213 0% 361 38.2% 8 37.5% - - - "HMMPfam_Peptidase_M3,superfamily_Metalloproteases (""zincins"") catalytic domain" ERBB2IP 55914 genome.wustl.edu 37 5 65307885 65307885 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018695.2 +1 reviewed p.E106K 1.000 127 0% 140 39.3% 1 0% probably_damaging(0.999) deleterious(0.04) deleterious(0.839) HMMPfam_LRR_1,superfamily_SSF52058 ERBB2IP 55914 genome.wustl.edu 37 5 65372746 65372746 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018695.2 +1 reviewed p.K1326T 1.000 135 0% 175 45.1% 29 72.4% probably_damaging(0.98) tolerated(0.22) neutral(0.466) HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ SREK1 140890 genome.wustl.edu 37 5 65455141 65455141 + Silent SNP G G T rs72770236 byCluster;byFrequency;by1000genomes TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001077199.1 +1 validated p.P130 0.070 167 0% 198 40.9% 16 56.2% - - - NULL CD180 4064 genome.wustl.edu 37 5 66479210 66479210 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005582.2 -1 validated p.T487 0.000 232 0% 248 41.1% 1 0% - - - superfamily_L domain-like CD180 4064 genome.wustl.edu 37 5 66479404 66479404 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005582.2 -1 validated p.E423K 0.030 316 0% 437 45.5% 1 100% probably_damaging(0.996) tolerated(0.2) deleterious(0.511) superfamily_L domain-like PIK3R1 5295 genome.wustl.edu 37 5 67593425 67593425 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_181523.1 +1 reviewed p.R724Q 1.000 139 0% 204 46.6% 63 38% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SH2 domain RAD17 5884 genome.wustl.edu 37 5 68669671 68669671 + Silent SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_133339.1 +1 reviewed p.V19 0.993 134 0% 141 25.5% 4 50% - - - NULL RAD17 5884 genome.wustl.edu 37 5 68682117 68682117 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_133339.1 +1 reviewed p.S281Y 0.210 111 0% 117 47% 1 0% benign(0.027) deleterious(0.02) neutral(0.385) HMMPfam_Rad17,superfamily_P-loop containing nucleoside triphosphate hydrolases MAP1B 4131 genome.wustl.edu 37 5 71490639 71490639 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005909.3 +1 validated p.R486Q 1.000 41 0% 52 50% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL MAP1B 4131 genome.wustl.edu 37 5 71491249 71491249 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005909.3 +1 validated p.K689 1.000 274 0% 310 45.2% 0 - - - - NULL MAP1B 4131 genome.wustl.edu 37 5 71493725 71493725 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005909.3 +1 validated p.E1515* 1.000 176 0% 201 16.4% 2 0% - - - NULL TNPO1 3842 genome.wustl.edu 37 5 72171523 72171523 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002270.3 +1 reviewed p.R254* 1.000 201 0% 248 40.3% 26 11.5% - - - HMMPfam_HEAT,superfamily_ARM repeat FCHO2 115548 genome.wustl.edu 37 5 72333029 72333029 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_138782.2 +1 validated p.D301Y 1.000 167 0% 176 17.6% 1 100% probably_damaging(0.993) deleterious(0.02) deleterious(0.833) NULL FCHO2 115548 genome.wustl.edu 37 5 72348189 72348189 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_138782.2 +1 validated p.S343I 1.000 241 0.4% 310 41.6% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL UTP15 84135 genome.wustl.edu 37 5 72864327 72864327 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032175.2 +1 validated p.R89Q 1.000 414 0% 481 40.1% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 RGNEF 64283 genome.wustl.edu 37 5 73048854 73048854 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001080479.2 +1 reviewed p.R101H 0.876 40 0% 50 54% 2 100% benign(0.068) deleterious(0) neutral(0.449) NULL HEXB 3074 genome.wustl.edu 37 5 73989527 73989527 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000521.3 +1 reviewed p.R170Q 1.000 228 0% 293 39.9% 75 41.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Glyco_hydro_20b,superfamily_beta-N-acetylhexosaminidase-like domain ANKRD31 256006 genome.wustl.edu 37 5 74442458 74442458 + Silent SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000274361 -1 known p.K926 0.007 50 2% 56 41.1% 0 - - - - superfamily_ANK HMGCR 3156 genome.wustl.edu 37 5 74640079 74640079 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000859.2 +1 reviewed p.G96D 1.000 482 0% 550 38.9% 46 56.5% - - - superfamily_Multidrug efflux transporter AcrB transmembrane domain POLK 51426 genome.wustl.edu 37 5 74882875 74882875 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016218.2 +1 validated p.S417 0.985 580 0% 547 39.1% 6 33.3% - - - HMMPfam_IMS,superfamily_Lesion bypass DNA polymerase (Y-family) little finger domain SV2C 22987 genome.wustl.edu 37 5 75591739 75591739 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014979.1 +1 provisional p.H492N 0.995 122 0.8% 187 46% 0 - benign(0.007) tolerated(0.08) neutral(0.300) HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter IQGAP2 10788 genome.wustl.edu 37 5 75969835 75969835 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006633.2 +1 validated p.D1090N 0.999 242 0.8% 337 42.1% 16 37.5% benign(0.005) tolerated(0.22) neutral(0.042) HMMPfam_RasGAP,HMMSmart_SM00323,superfamily_GTPase activation domain GAP IQGAP2 10788 genome.wustl.edu 37 5 75993836 75993836 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006633.2 +1 validated p.R1411C 1.000 131 0% 163 45.4% 11 18.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RasGAP_C AGGF1 55109 genome.wustl.edu 37 5 76343996 76343996 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018046.3 +1 validated p.K404N 1.000 261 0.4% 335 43.3% 35 54.2% possibly_damaging(0.677) tolerated(0.06) deleterious(0.564) NULL PDE8B 8622 genome.wustl.edu 37 5 76715650 76715650 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003719.2 +1 validated p.T730P 1.000 107 0% 131 30.5% 5 0% probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_PDEase_I,HMMSmart_SM00471,superfamily_HD-domain/PDEase-like WDR41 55255 genome.wustl.edu 37 5 76758930 76758930 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018268.2 -1 validated p.R113I 0.972 239 0% 267 25.5% 20 15% possibly_damaging(0.922) deleterious(0) deleterious(0.816) HMMSmart_WD40,superfamily_WD40_like,PatternScan_WD_REPEATS_1,HMMPfam_WD40 AP3B1 8546 genome.wustl.edu 37 5 77334942 77334942 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003664.3 -1 reviewed p.R912* 0.421 510 0% 651 39% 7 0% - - - NULL JMY 133746 genome.wustl.edu 37 5 78611996 78611996 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152405.4 +1 validated p.E945* 1.000 156 0% 178 33.7% 1 0% - - - NULL CMYA5 202333 genome.wustl.edu 37 5 79028387 79028387 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_153610.3 +1 validated p.E1267* 0.012 57 0% 80 45% 0 - - - - NULL CMYA5 202333 genome.wustl.edu 37 5 79033314 79033314 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_153610.3 +1 validated p.S2909Y 0.022 105 0% 122 44.3% 1 100% probably_damaging(0.988) deleterious(0) deleterious(0.882) NULL CMYA5 202333 genome.wustl.edu 37 5 79034081 79034081 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_153610.3 +1 validated p.L3165I 0.009 56 0% 33 33.3% 3 66.6% possibly_damaging(0.93) deleterious(0) deleterious(0.821) NULL SPZ1 84654 genome.wustl.edu 37 5 79616266 79616266 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032567.3 +1 validated p.D78Y 0.097 109 0% 120 42.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL SPZ1 84654 genome.wustl.edu 37 5 79617154 79617154 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032567.3 +1 validated p.E374* 0.000 59 0% 59 20.3% 0 - - - - NULL ZFYVE16 9765 genome.wustl.edu 37 5 79768693 79768693 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001105251.1 +1 validated p.E1380* 1.000 269 0% 301 42.5% 9 11.1% - - - NULL ANKRD34B 340120 genome.wustl.edu 37 5 79855678 79855678 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001004441.2 -1 validated p.K54R 0.541 107 0% 158 44.3% 0 - benign(0.057) tolerated(0.62) neutral(0.007) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat RASGRF2 5924 genome.wustl.edu 37 5 80388686 80388686 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006909.1 +1 validated p.S486Y 1.000 191 0% 249 43.4% 0 - possibly_damaging(0.822) deleterious(0) deleterious(0.756) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like ACOT12 134526 genome.wustl.edu 37 5 80631636 80631636 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_130767.2 -1 validated p.R405C 0.015 177 0% 151 40.4% 0 - benign(0.001) tolerated(0.19) neutral(0.050) HMMPfam_START,superfamily_Bet v1-like ACOT12 134526 genome.wustl.edu 37 5 80681626 80681626 + Silent SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_130767.2 -1 validated p.V49 0.957 144 0% 182 47.3% 0 - - - - HMMPfam_4HBT,superfamily_Thioesterase/thiol ester dehydrase-isomerase VCAN 1462 genome.wustl.edu 37 5 82817772 82817772 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004385.4 +1 reviewed p.R1216K 0.771 214 0% 272 24.3% 6 16.6% benign(0.001) tolerated(1) - NULL VCAN 1462 genome.wustl.edu 37 5 82833372 82833372 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004385.4 +1 reviewed p.K1517T 0.002 139 0% 148 45.3% 10 50% benign(0.003) - - NULL VCAN 1462 genome.wustl.edu 37 5 82834409 82834409 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004385.4 +1 reviewed p.E1863K 0.000 74 0% 105 44.8% 9 22.2% benign(0) - - NULL RASA1 5921 genome.wustl.edu 37 5 86627206 86627206 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002890.1 +1 reviewed p.R194H 1.000 278 0% 351 44.7% 20 70% probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_SH2,HMMSmart_SM00252,superfamily_SH2 domain RASA1 5921 genome.wustl.edu 37 5 86637124 86637124 + Silent SNP A A C rs188475610 by1000genomes TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002890.1 +1 reviewed p.P345 1.000 54 0% 35 60% 3 0% - - - superfamily_SH2 domain RASA1 5921 genome.wustl.edu 37 5 86665697 86665697 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002890.1 +1 reviewed p.E560* 1.000 166 0% 231 43.7% 7 42.8% - - - HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like RASA1 5921 genome.wustl.edu 37 5 86670076 86670076 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002890.1 +1 reviewed p.V625L 1.000 207 0% 317 42.3% 3 0% possibly_damaging(0.799) tolerated(0.15) deleterious(0.542) HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) RASA1 5921 genome.wustl.edu 37 5 86685312 86685312 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002890.1 +1 reviewed p.R1010* 0.975 81 0% 98 43.9% 40 75% - - - HMMSmart_SM00323,superfamily_GTPase activation domain GAP TMEM161B 153396 genome.wustl.edu 37 5 87494938 87494938 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_153354.3 -1 provisional p.R315Q 1.000 115 0% 151 47.7% 10 40% probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_Tmemb_161AB GPR98 84059 genome.wustl.edu 37 5 89949105 89949105 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000504142 +1 known p.L827I 0.092 139 0% 216 44% 0 - - - - NULL GPR98 84059 genome.wustl.edu 37 5 89979777 89979777 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032119.3 +1 reviewed p.V2013 0.029 171 0% 171 40.9% 0 - - - - HMMPfam_Calx-beta,HMMSmart_SM00237 GPR98 84059 genome.wustl.edu 37 5 90059213 90059213 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032119.3 +1 reviewed p.R4071Q 0.001 93 0% 140 55% 5 40% benign(0.15) tolerated(0.46) neutral(0.025) HMMPfam_Calx-beta,HMMSmart_SM00237 GPR98 84059 genome.wustl.edu 37 5 90087089 90087089 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032119.3 +1 reviewed p.E4815K 0.833 110 0% 140 14.3% 3 0% possibly_damaging(0.614) tolerated(0.2) neutral(0.262) NULL GPR98 84059 genome.wustl.edu 37 5 90101168 90101168 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032119.3 +1 reviewed p.S4910Y 0.504 187 0% 235 43.4% 0 - probably_damaging(0.992) tolerated(0.11) deleterious(0.719) NULL ARRDC3 57561 genome.wustl.edu 37 5 90670044 90670044 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020801.2 -1 validated p.L307R 1.000 248 0% 303 41.3% 41 36.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Arrestin_C,superfamily_Ig_E-set FAM172A 83989 genome.wustl.edu 37 5 93386467 93386467 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032042.5 -1 validated p.W93L 1.000 398 0% 518 37.8% 0 - benign(0.235) tolerated(0.26) neutral(0.058) NULL KIAA0825 285600 genome.wustl.edu 37 5 93722035 93722035 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001145678.1 -1 validated p.T1177 0.114 251 0% 282 25.2% 0 - - - - NULL KIAA0825 285600 genome.wustl.edu 37 5 93731966 93731966 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001145678.1 -1 validated p.E1046* 1.000 165 0% 194 43.3% 0 - - - - NULL LOC100131573 100131573 genome.wustl.edu 37 5 93929100 93929100 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_001716404.1 +1 model p.E227* 0.006 79 0% 85 49.4% 0 - - - - NULL MCTP1 79772 genome.wustl.edu 37 5 94207064 94207064 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024717.4 -1 validated p.R699* 1.000 210 0% 278 41.4% 1 0% - - - HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) FAM81B 153643 genome.wustl.edu 37 5 94785856 94785856 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152548.2 +1 validated p.F410C 1.000 356 0% 427 42.4% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL TTC37 9652 genome.wustl.edu 37 5 94838608 94838608 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014639.2 -1 provisional p.V1106A 0.194 362 0% 470 24.5% 22 36.3% benign(0) tolerated(1) - superfamily_Prenyl_trans TTC37 9652 genome.wustl.edu 37 5 94858991 94858991 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014639.2 -1 provisional p.A558T 1.000 154 0% 222 41.9% 19 36.8% unknown(0) - - superfamily_Prenyl_trans ARSK 153642 genome.wustl.edu 37 5 94927197 94927197 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_198150.2 +1 validated p.R322* 0.998 177 0.6% 276 47.8% 3 0% - - - HMMPfam_Sulfatase,superfamily_Alkaline_phosphatase_core ELL2 22936 genome.wustl.edu 37 5 95242391 95242391 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_012081.5 -1 validated p.R193* 1.000 325 0% 451 43.2% 3 33.3% - - - HMMPfam_ELL PCSK1 5122 genome.wustl.edu 37 5 95733079 95733079 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000439.4 -1 reviewed p.E561 1.000 163 0% 245 45.7% 0 - - - - HMMPfam_P_proprotein,superfamily_Gal_bind_like PCSK1 5122 genome.wustl.edu 37 5 95748142 95748142 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000439.4 -1 reviewed p.I254M 1.000 227 0% 255 38.8% 0 - probably_damaging(0.991) tolerated(0.16) deleterious(0.504) HMMPfam_Peptidase_S8,superfamily_Pept_S8_S53 ERAP1 51752 genome.wustl.edu 37 5 96139390 96139390 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016442.3 -1 validated p.T80 0.000 300 0% 420 44.5% 48 43.7% - - - HMMPfam_Peptidase_M1,superfamily_SSF63737 ERAP2 64167 genome.wustl.edu 37 5 96215677 96215677 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001130140.1 +1 validated p.K96N 1.000 134 0% 151 33.8% 13 0% probably_damaging(0.985) tolerated(0.28) neutral(0.464) HMMPfam_Peptidase_M1,superfamily_Leukotriene A4 hydrolase N-terminal domain LNPEP 4012 genome.wustl.edu 37 5 96333769 96333769 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005575.2 +1 reviewed p.N525H 1.000 230 0% 292 48.3% 2 100% possibly_damaging(0.951) deleterious(0.01) deleterious(0.800) "HMMPfam_Peptidase_M1,superfamily_Metalloproteases (""zincins"") catalytic domain" LIX1 167410 genome.wustl.edu 37 5 96430569 96430569 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_153234.4 -1 validated p.F244L 1.000 138 0% 185 50.3% 1 0% possibly_damaging(0.792) deleterious(0) deleterious(0.742) NULL RIOK2 55781 genome.wustl.edu 37 5 96504510 96504510 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018343.2 -1 validated p.R276C 1.000 177 0% 192 40.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RIO1 CHD1 1105 genome.wustl.edu 37 5 98218901 98218901 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001270.2 -1 reviewed p.G870V 1.000 160 0% 178 19.1% 2 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Helicase_C,HMMSmart_SM00490,superfamily_P-loop containing nucleoside triphosphate hydrolases SLCO4C1 353189 genome.wustl.edu 37 5 101631807 101631807 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_180991.4 -1 validated p.E54* 0.000 148 0% 233 44.2% 0 - - - - NULL PAM 5066 genome.wustl.edu 37 5 102343326 102343326 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000919.3 +1 reviewed p.F727S 1.000 247 0% 309 32% 95 24.2% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF101898 FBXL17 64839 genome.wustl.edu 37 5 107216871 107216871 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000496714 -1 known p.A213V 1.000 134 0% 224 41.1% 12 66.6% probably_damaging(0.959) tolerated(0.06) deleterious(0.725) superfamily_SSF52047 FBXL17 64839 genome.wustl.edu 37 5 107700584 107700584 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000496714 -1 known p.K12T 1.000 137 0% 196 50.5% 9 66.6% probably_damaging(0.983) tolerated(0.38) neutral(0.447) superfamily_SSF52047 MAN2A1 4124 genome.wustl.edu 37 5 109103261 109103261 + Silent SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002372.2 +1 reviewed p.A287 0.729 252 0% 294 45.9% 12 50% - - - HMMPfam_Glyco_hydro_38,superfamily_Glyco_hydro/deAcase_b/a-brl WDR36 134430 genome.wustl.edu 37 5 110446590 110446590 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_139281.2 +1 reviewed p.K571N 0.990 92 0% 182 51.1% 2 50% possibly_damaging(0.94) tolerated(0.24) neutral(0.422) superfamily_WD40_like WDR36 134430 genome.wustl.edu 37 5 110456751 110456751 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_139281.2 +1 reviewed p.S743L 1.000 181 0% 221 38.9% 6 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Utp21 WDR36 134430 genome.wustl.edu 37 5 110461356 110461356 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_139281.2 +1 reviewed p.T857A 1.000 281 0% 373 44% 10 60% benign(0.228) tolerated(0.34) neutral(0.045) HMMPfam_Utp21 CAMK4 814 genome.wustl.edu 37 5 110710561 110710561 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001744.3 +1 reviewed p.I85T 1.000 203 0% 210 44.8% 0 - probably_damaging(0.978) tolerated(0.37) neutral(0.440) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase DCP2 167227 genome.wustl.edu 37 5 112349069 112349069 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000513585 +1 known p.C365* 0.002 264 0% 348 43.7% 6 33.3% benign(0.344) deleterious(0.02) deleterious(0.491) NULL MCC 4163 genome.wustl.edu 37 5 112364657 112364657 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001085377.1 -1 reviewed p.F951 0.187 220 0% 252 48.4% 1 100% - - - HMMPfam_MCC-bdg_PDZ MCC 4163 genome.wustl.edu 37 5 112420989 112420989 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001085377.1 -1 reviewed p.R473* 0.967 210 0.5% 294 44.9% 4 25% - - - HMMPfam_MCC-bdg_PDZ YTHDC2 64848 genome.wustl.edu 37 5 112860844 112860844 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_022828.3 +1 validated p.E149K 1.000 237 0% 305 41.3% 1 0% benign(0.001) tolerated(0.07) neutral(0.319) NULL YTHDC2 64848 genome.wustl.edu 37 5 112862456 112862456 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_022828.3 +1 validated p.E217* 1.000 56 0% 48 54.2% 0 - - - - HMMSmart_DEXDc,superfamily_SSF52540 YTHDC2 64848 genome.wustl.edu 37 5 112889709 112889709 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_022828.3 +1 validated p.K708T 1.000 432 0% 529 21.4% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_Helicase_C,HMMSmart_HELICc,superfamily_SSF52540 PGGT1B 5229 genome.wustl.edu 37 5 114557615 114557615 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005023.3 -1 validated p.R250M 1.000 371 0% 441 40.6% 6 0% probably_damaging(0.953) deleterious(0) deleterious(0.841) HMMPfam_Prenyltrans,superfamily_Terpenoid cyclases/Protein prenyltransferases PGGT1B 5229 genome.wustl.edu 37 5 114573622 114573622 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005023.3 -1 validated p.D138N 1.000 104 0% 103 13.6% 1 0% benign(0.149) deleterious(0.03) neutral(0.378) superfamily_Terpenoid cyclases/Protein prenyltransferases CCDC112 153733 genome.wustl.edu 37 5 114607094 114607094 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001040440.2 -1 validated p.K383T 0.901 515 0% 499 41.9% 2 0% benign(0.155) deleterious(0.03) neutral(0.378) NULL CCDC112 153733 genome.wustl.edu 37 5 114607180 114607180 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001040440.2 -1 validated p.Q354H 0.999 734 0% 764 46.7% 3 66.6% possibly_damaging(0.822) tolerated(0.12) deleterious(0.572) NULL TICAM2 353376 genome.wustl.edu 37 5 114916331 114916331 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_021649.5 -1 validated p.R208I 0.987 199 0% 207 36.7% 0 - possibly_damaging(0.903) deleterious(0) deleterious(0.802) superfamily_TIR AQPEP 206338 genome.wustl.edu 37 5 115323514 115323514 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_173800.4 +1 validated p.R328H 0.998 270 0% 321 49.8% 1 0% probably_damaging(0.999) tolerated(0.08) deleterious(0.790) "HMMPfam_Peptidase_M1,superfamily_Metalloproteases (""zincins"") catalytic domain" DMXL1 1657 genome.wustl.edu 37 5 118450213 118450213 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005509.4 +1 validated p.E181* 1.000 310 0% 356 41.3% 1 0% - - - HMMSmart_SM00320,superfamily_WD40 repeat-like DMXL1 1657 genome.wustl.edu 37 5 118484577 118484577 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005509.4 +1 validated p.L1019I 0.059 161 0% 169 27.2% 2 0% benign(0.001) tolerated(0.58) neutral(0.005) NULL DMXL1 1657 genome.wustl.edu 37 5 118560444 118560444 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005509.4 +1 validated p.S2752Y 1.000 224 0% 275 36.4% 9 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00320,superfamily_WD40 repeat-like HSD17B4 3295 genome.wustl.edu 37 5 118813124 118813124 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000414.2 +1 reviewed p.R121I 0.980 159 0% 180 44.4% 31 41.9% probably_damaging(0.978) deleterious(0.02) deleterious(0.803) HMMPfam_adh_short,superfamily_NAD(P)-bd ZNF474 133923 genome.wustl.edu 37 5 121488107 121488107 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_207317.1 +1 provisional p.S141Y 0.008 75 0% 90 12.2% 0 - possibly_damaging(0.454) deleterious(0.03) deleterious(0.513) NULL ZNF474 133923 genome.wustl.edu 37 5 121488626 121488626 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_207317.1 +1 provisional p.K314T 0.000 121 0% 148 34.5% 1 100% benign(0.004) deleterious(0.03) neutral(0.364) NULL SNX2 6643 genome.wustl.edu 37 5 122137621 122137621 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003100.2 +1 reviewed p.E150* 1.000 339 0% 374 38.8% 20 5% - - - HMMPfam_PX,HMMSmart_SM00312,superfamily_PX domain LMNB1 4001 genome.wustl.edu 37 5 126140499 126140499 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005573.2 +1 reviewed p.A131T 1.000 253 0% 349 39.8% 56 50% benign(0.064) deleterious(0.03) neutral(0.368) HMMPfam_Filament LMNB1 4001 genome.wustl.edu 37 5 126145904 126145904 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005573.2 +1 reviewed p.T225 0.070 176 0% 183 45.9% 108 38.8% - - - HMMPfam_Filament LMNB1 4001 genome.wustl.edu 37 5 126156774 126156774 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005573.2 +1 reviewed p.E445K 1.000 273 0% 358 38% 99 42.4% probably_damaging(0.989) tolerated(0.06) deleterious(0.762) HMMPfam_IF_tail,superfamily_Lamin A/C globular tail domain FBN2 2201 genome.wustl.edu 37 5 127729053 127729053 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001999.3 -1 reviewed p.R414C 1.000 58 0% 65 56.9% 0 - probably_damaging(0.987) deleterious(0.03) deleterious(0.801) HMMPfam_TB,superfamily_TB module/8-cys domain,superfamily_Concanavalin A-like lectins/glucanases ADAMTS19 171019 genome.wustl.edu 37 5 128861998 128861998 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_133638.3 +1 reviewed p.R306I 1.000 132 0% 156 45.5% 1 0% benign(0) tolerated(0.2) neutral(0.049) NULL RAPGEF6 51735 genome.wustl.edu 37 5 130846112 130846112 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016340.5 -1 validated p.E234K 1.000 187 0% 246 44.3% 3 66.6% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL FNIP1 96459 genome.wustl.edu 37 5 131007628 131007628 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_133372.2 -1 validated p.E837K 1.000 102 0% 119 42% 2 0% benign(0.195) deleterious(0.02) neutral(0.402) NULL CSF2 1437 genome.wustl.edu 37 5 131409798 131409798 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000758.2 +1 reviewed p.E62* 0.163 62 0% 86 43% 0 - - - - HMMPfam_GM_CSF,HMMSmart_SM00040,superfamily_4-helical cytokines P4HA2 8974 genome.wustl.edu 37 5 131539816 131539816 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001142599.1 -1 reviewed p.K370N 1.000 269 0.7% 376 28.5% 107 23.3% possibly_damaging(0.617) tolerated(0.47) neutral(0.226) HMMSmart_SM00702 KIF3A 11127 genome.wustl.edu 37 5 132038594 132038594 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_007054.5 -1 validated p.E517* 1.000 441 0% 630 44.1% 0 - - - - NULL SHROOM1 134549 genome.wustl.edu 37 5 132159327 132159327 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_133456.2 -1 validated p.I647 0.563 69 0% 105 16.2% 11 0% - - - HMMPfam_ASD2 GDF9 2661 genome.wustl.edu 37 5 132197744 132197744 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005260.3 -1 reviewed p.P301H 0.000 87 0% 100 50% 1 0% benign(0.006) deleterious(0.02) neutral(0.383) NULL AFF4 27125 genome.wustl.edu 37 5 132222032 132222032 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014423.3 -1 validated p.K1023N 1.000 155 0% 195 13.8% 8 0% probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_AF-4 HSPA4 3308 genome.wustl.edu 37 5 132406147 132406147 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002154.3 +1 validated p.E130K 1.000 306 0.3% 358 29.6% 20 10% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_HSP70,superfamily_SSF53067 HSPA4 3308 genome.wustl.edu 37 5 132412421 132412421 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002154.3 +1 validated p.E247* 1.000 229 0% 298 42.6% 8 12.5% - - - HMMPfam_HSP70,superfamily_SSF53067 HSPA4 3308 genome.wustl.edu 37 5 132412476 132412476 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002154.3 +1 validated p.R265Q 1.000 230 0% 323 29.4% 23 4.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HSP70,superfamily_SSF53067 HSPA4 3308 genome.wustl.edu 37 5 132424147 132424147 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002154.3 +1 validated p.R346Q 1.000 154 0% 241 43.2% 25 4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HSP70,PatternScan_HSP70_3,superfamily_SSF53067 FSTL4 23105 genome.wustl.edu 37 5 132556639 132556639 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000360575 -1 known p.S69Y 0.000 31 0% 48 47.9% 1 100% - - - NULL CDKL3 51265 genome.wustl.edu 37 5 133657506 133657506 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001113575.1 -1 reviewed p.L210I 1.000 186 0% 192 49% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase CDKL3 51265 genome.wustl.edu 37 5 133686005 133686005 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001113575.1 -1 reviewed p.T158 0.354 234 0% 277 11.6% 1 0% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase CDKL3 51265 genome.wustl.edu 37 5 133702067 133702067 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001113575.1 -1 reviewed p.E50* 1.000 233 0% 269 48.3% 0 - - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase PHF15 23338 genome.wustl.edu 37 5 133897983 133897983 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015288.4 +1 provisional p.R260* 1.000 58 0% 73 42.5% 1 0% - - - NULL DDX46 9879 genome.wustl.edu 37 5 134120163 134120163 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014829.2 +1 reviewed p.A425V 1.000 289 0% 378 44.2% 18 61.1% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_DEAD,HMMSmart_DEXDc,superfamily_SSF52540 TXNDC15 79770 genome.wustl.edu 37 5 134235248 134235248 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024715.3 +1 validated p.I319T 0.912 341 0% 414 44.7% 24 50% benign(0) tolerated(0.64) neutral(0.003) NULL ENSG00000145832 0 genome.wustl.edu 37 5 135207497 135207497 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000274513 +1 known p.G257R 0.008 52 0% 55 30.9% 0 - probably_damaging(1) - - NULL FBXL21 26223 genome.wustl.edu 37 5 135276209 135276209 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_012159.4 +1 validated p.F174C 1.000 116 0% 170 52.9% 0 - possibly_damaging(0.823) deleterious(0) deleterious(0.756) superfamily_RNI-like FBXL21 26223 genome.wustl.edu 37 5 135276280 135276280 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_012159.4 +1 validated p.L198I 1.000 155 0% 250 39.2% 0 - probably_damaging(0.987) deleterious(0.01) deleterious(0.842) superfamily_RNI-like LECT2 3950 genome.wustl.edu 37 5 135283138 135283138 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002302.2 -1 reviewed p.P113H 0.601 316 0% 352 42.3% 0 - benign(0.358) tolerated(0.05) neutral(0.459) HMMPfam_Peptidase_M23 KLHL3 26249 genome.wustl.edu 37 5 136997681 136997681 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017415.2 -1 validated p.E226* 0.998 186 0% 260 45.8% 1 100% - - - HMMPfam_BACK FAM13B 51306 genome.wustl.edu 37 5 137289150 137289150 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016603.2 -1 validated p.R553* 1.000 321 0% 397 43.1% 2 50% - - - NULL BRD8 10902 genome.wustl.edu 37 5 137486441 137486441 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_139199.1 -1 reviewed p.S1038N 0.972 187 0% 228 19.7% 0 - benign(0.081) tolerated(0.29) neutral(0.035) NULL BRD8 10902 genome.wustl.edu 37 5 137496686 137496686 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_139199.1 -1 reviewed p.R774H 1.000 153 0% 193 49.2% 79 40.5% possibly_damaging(0.807) deleterious(0) deleterious(0.748) HMMPfam_Bromodomain,HMMSmart_SM00297,superfamily_Bromodomain CDC23 8697 genome.wustl.edu 37 5 137536911 137536911 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004661.3 -1 reviewed p.R180Q 1.000 273 0% 356 44.7% 9 22.2% probably_damaging(0.967) deleterious(0.02) deleterious(0.792) HMMSmart_SM00028,superfamily_TPR-like CDC25C 995 genome.wustl.edu 37 5 137622214 137622214 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001790.3 -1 reviewed p.E378* 1.000 137 0% 194 44.3% 3 0% - - - HMMPfam_Rhodanese,HMMSmart_SM00450,superfamily_Rhodanese/Cell cycle control phosphatase KDM3B 51780 genome.wustl.edu 37 5 137727239 137727239 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016604.3 +1 validated p.F640L 1.000 18 0% 20 45% 18 61.1% possibly_damaging(0.792) deleterious(0.01) deleterious(0.703) NULL LRRTM2 26045 genome.wustl.edu 37 5 138208924 138208924 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015564.2 -1 validated p.F442L 1.000 255 0% 271 16.6% 0 - possibly_damaging(0.496) deleterious(0.01) deleterious(0.571) NULL WDR55 54853 genome.wustl.edu 37 5 140048020 140048020 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017706.4 +1 validated p.D105Y 1.000 142 0.7% 221 11.8% 45 2.2% unknown(0) - - HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 HARS 3035 genome.wustl.edu 37 5 140054387 140054387 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002109.3 -1 reviewed p.N445 1.000 246 0% 320 45.9% 98 69.3% - - - HMMPfam_HGTP_anticodon,superfamily_Anticodon_bd PCDHA1 56147 genome.wustl.edu 37 5 140168122 140168122 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018900.2 +1 reviewed p.S749 0.005 72 0% 109 50.5% 1 0% - - - NULL PCDHA2 56146 genome.wustl.edu 37 5 140175582 140175582 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018905.2 +1 reviewed p.D345Y 1.000 66 0% 103 13.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like PCDHA6 56142 genome.wustl.edu 37 5 140208151 140208151 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018909.2 +1 reviewed p.D159N 0.999 95 0% 131 54.2% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHA6 56142 genome.wustl.edu 37 5 140208403 140208403 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018909.2 +1 reviewed p.E243K 0.002 74 0% 106 18.9% 0 - benign(0.103) deleterious(0.03) neutral(0.372) superfamily_Cadherin-like PCDHA6 56142 genome.wustl.edu 37 5 140208616 140208616 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018909.2 +1 reviewed p.N314H 0.000 106 0% 182 45.1% 0 - possibly_damaging(0.832) tolerated(0.09) deleterious(0.613) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHA6 56142 genome.wustl.edu 37 5 140209591 140209591 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018909.2 +1 reviewed p.E639K 0.982 22 0% 54 22.2% 1 0% possibly_damaging(0.753) deleterious(0) deleterious(0.721) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like ENSG00000249608 0 genome.wustl.edu 37 5 140248633 140248633 + RNA SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000512753 -1 known NULL 0.004 174 0% 210 22.4% 0 - - - - - PCDHA12 56137 genome.wustl.edu 37 5 140256945 140256945 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018903.2 +1 reviewed p.E630K 1.000 68 0% 135 35.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHA13 56136 genome.wustl.edu 37 5 140263893 140263893 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018904.2 +1 reviewed p.S680 0.000 11 0% 45 48.9% 0 - - - - NULL PCDHAC2 56134 genome.wustl.edu 37 5 140389278 140389278 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018899.5 +1 reviewed p.K927T 1.000 85 0% 118 14.4% 7 42.8% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PCDHB1 29930 genome.wustl.edu 37 5 140432091 140432091 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_013340.2 +1 reviewed p.E346K 0.999 155 0.6% 194 44.8% 0 - benign(0.085) tolerated(0.07) neutral(0.325) superfamily_Cadherin PCDHB3 56132 genome.wustl.edu 37 5 140481610 140481610 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018937.2 +1 reviewed p.F459 0.000 64 0% 91 50.5% 5 20% - - - HMMPfam_Cadherin,superfamily_Cadherin-like PCDHB17 54661 genome.wustl.edu 37 5 140536771 140536771 + RNA SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NR_001280.1 +1 provisional NULL 0.007 52 0% 64 28.1% 0 - - - - - PCDHB7 56129 genome.wustl.edu 37 5 140553608 140553608 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018940.2 +1 reviewed p.E398K 0.014 111 0.9% 144 43.1% 2 0% benign(0.001) tolerated(0.83) neutral(0.001) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHB7 56129 genome.wustl.edu 37 5 140553731 140553731 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018940.2 +1 reviewed p.V439M 0.306 167 0% 227 45.4% 6 16.6% probably_damaging(0.968) deleterious(0) deleterious(0.855) HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like PCDHB8 56128 genome.wustl.edu 37 5 140557851 140557851 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_019120.2 +1 reviewed p.N79S 0.079 392 0% 479 10.4% 1 0% benign(0.002) tolerated(0.28) neutral(0.032) HMMSmart_CA,HMMPfam_Cadherin_2,superfamily_Cadherin PCDHB10 56126 genome.wustl.edu 37 5 140572275 140572275 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018930.3 +1 reviewed p.K50N 0.824 278 0% 373 36.5% 1 0% benign(0.011) deleterious(0.03) neutral(0.365) HMMPfam_Cadherin_2,superfamily_Cadherin PCDHB10 56126 genome.wustl.edu 37 5 140572815 140572815 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018930.3 +1 reviewed p.I230 0.000 85 0% 109 46.8% 7 28.5% - - - HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,superfamily_Cadherin PCDHB10 56126 genome.wustl.edu 37 5 140573743 140573743 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018930.3 +1 reviewed p.A540T 0.002 36 0% 100 21% 10 0% possibly_damaging(0.874) tolerated(0.05) deleterious(0.685) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHB11 56125 genome.wustl.edu 37 5 140581716 140581716 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018931.2 +1 reviewed p.R790Q 0.000 155 0% 192 41.1% 1 100% benign(0.001) tolerated(0.2) neutral(0.049) NULL ENSG00000250004 0 genome.wustl.edu 37 5 140605497 140605497 + RNA SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000515856 -1 novel NULL 0.000 60 0% 69 44.9% 1 100% - - - - ENSG00000251462 0 genome.wustl.edu 37 5 140619982 140619982 + RNA SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000503443 -1 known NULL 0.349 8 0.000 9 0.556 0 - - - - - PCDHB15 56121 genome.wustl.edu 37 5 140626585 140626585 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018935.2 +1 reviewed p.S480L 0.069 64 0% 87 50.6% 4 0% benign(0.429) tolerated(0.47) neutral(0.151) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHGA1 56114 genome.wustl.edu 37 5 140712719 140712719 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_031993.1 +1 reviewed p.S823Y 0.000 71 0% 72 36.1% 1 100% possibly_damaging(0.745) - - NULL PCDHGA4 56111 genome.wustl.edu 37 5 140735092 140735092 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018917.2 +1 reviewed p.L109I 0.993 102 0% 141 40.4% 2 50% - - - HMMSmart_SM00112,HMMPfam_Cadherin_2,superfamily_Cadherin-like PCDHGA5 56110 genome.wustl.edu 37 5 140744697 140744697 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018918.2 +1 reviewed p.T267M 0.938 48 0% 49 42.9% 3 33.3% probably_damaging(0.995) deleterious(0.02) deleterious(0.841) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGA5 56110 genome.wustl.edu 37 5 140744961 140744961 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018918.2 +1 reviewed p.S355L 0.004 132 0% 223 29.1% 0 - benign(0.005) deleterious(0.05) neutral(0.345) HMMPfam_Cadherin,superfamily_Cadherin-like PCDHGA5 56110 genome.wustl.edu 37 5 140745998 140745998 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018918.2 +1 reviewed p.S701P 0.992 36 0% 40 47.5% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PCDHGB3 56102 genome.wustl.edu 37 5 140751687 140751687 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018924.2 +1 reviewed p.D576N 1.000 21 0% 35 42.9% 1 100% - - - HMMPfam_Cadherin,superfamily_Cadherin-like PCDHGA6 56109 genome.wustl.edu 37 5 140754184 140754184 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018919.2 +1 reviewed p.F178 1.000 34 0% 51 45.1% 3 33.3% - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGA7 56108 genome.wustl.edu 37 5 140762804 140762804 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018920.2 +1 reviewed p.K113T 0.789 62 0% 78 35.9% 0 - benign(0.002) tolerated(0.05) neutral(0.345) HMMSmart_SM00112,superfamily_Cadherin-like PCDHGB5 56101 genome.wustl.edu 37 5 140779288 140779288 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018925.2 +1 reviewed p.D532N 1.000 22 0% 40 50% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGA9 56107 genome.wustl.edu 37 5 140783438 140783438 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018921.2 +1 reviewed p.L307 0.034 126 0% 160 49.4% 1 100% - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGB6 56100 genome.wustl.edu 37 5 140788217 140788217 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018926.2 +1 reviewed p.T150A 0.000 152 0% 209 45.5% 0 - benign(0) tolerated(1) - HMMPfam_Cadherin,superfamily_Cadherin-like PCDHGA11 56105 genome.wustl.edu 37 5 140800828 140800828 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018914.2 +1 reviewed p.R12W 0.000 13 0% 17 52.9% 2 100% unknown(0) tolerated(0.05) - NULL PCDHGA11 56105 genome.wustl.edu 37 5 140802306 140802306 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018914.2 +1 reviewed p.S504 0.991 139 0% 175 46.3% 2 100% - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGC4 56098 genome.wustl.edu 37 5 140866238 140866238 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018928.2 +1 reviewed p.R500* 0.899 88 0% 120 49.2% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGC4 56098 genome.wustl.edu 37 5 140866769 140866769 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018928.2 +1 reviewed p.R677* 0.988 164 0.6% 224 45.1% 0 - - - - NULL HDAC3 8841 genome.wustl.edu 37 5 141014438 141014438 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003883.3 -1 reviewed p.S74N 1.000 137 0% 152 29.6% 67 53.7% benign(0.23) tolerated(0.18) neutral(0.079) HMMPfam_Hist_deacetyl,superfamily_Arginase/deacetylase ARAP3 64411 genome.wustl.edu 37 5 141059793 141059793 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_022481.5 -1 reviewed p.P87 0.001 103 0% 118 39.8% 10 20% - - - NULL ARHGAP26 23092 genome.wustl.edu 37 5 142421405 142421405 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015071.4 +1 reviewed p.R412Q 1.000 212 0.5% 258 20.9% 38 34.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP KCTD16 57528 genome.wustl.edu 37 5 143586926 143586926 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020768.3 +1 validated p.R217* 1.000 125 0% 105 52.4% 0 - - - - NULL LARS 51520 genome.wustl.edu 37 5 145503616 145503616 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020117.9 -1 reviewed p.D1009Y 1.000 321 0% 376 42% 25 40% possibly_damaging(0.949) tolerated(0.05) deleterious(0.738) NULL LARS 51520 genome.wustl.edu 37 5 145529246 145529246 + Missense_Mutation SNP C C T rs192961740 by1000genomes TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020117.9 -1 reviewed p.G481E 0.939 397 0% 434 37.8% 20 50% benign(0.003) tolerated(1) - superfamily_ValRS/IleRS/LeuRS editing domain,superfamily_Nucleotidylyl transferase RBM27 54439 genome.wustl.edu 37 5 145609354 145609354 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018989.1 +1 validated p.R157H 1.000 233 0.4% 201 47.8% 10 50% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL RBM27 54439 genome.wustl.edu 37 5 145641173 145641173 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018989.1 +1 validated p.R665Q 1.000 131 0% 174 44.8% 26 26.9% probably_damaging(0.988) deleterious(0) deleterious(0.882) HMMSmart_RRM,superfamily_SSF54928 POU4F3 5459 genome.wustl.edu 37 5 145719977 145719977 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002700.2 +1 reviewed p.Q329H 1.000 17 0% 29 62.1% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like,PatternScan_HOMEOBOX_1 TCERG1 10915 genome.wustl.edu 37 5 145883447 145883447 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006706.3 +1 reviewed p.R870* 1.000 216 0% 253 42.7% 7 14.2% - - - NULL TCERG1 10915 genome.wustl.edu 37 5 145888796 145888796 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006706.3 +1 reviewed p.F1028C 1.000 179 0% 259 45.6% 7 42.8% unknown(0) tolerated(0.15) - HMMPfam_FF,HMMSmart_SM00441 PPP2R2B 5521 genome.wustl.edu 37 5 145979966 145979966 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_181676.2 -1 reviewed p.S286L 1.000 258 0% 366 45.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00320,superfamily_WD40 repeat-like SPINK5 11005 genome.wustl.edu 37 5 147499934 147499934 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001127698.1 +1 reviewed p.E840* 0.001 908 0% 1070 23.5% 5 20% - - - NULL SPINK7 84651 genome.wustl.edu 37 5 147692083 147692083 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032566.2 +1 validated p.V13L 0.001 244 0.4% 265 46.4% 2 0% benign(0) tolerated(0.64) neutral(0.003) NULL FBXO38 81545 genome.wustl.edu 37 5 147806803 147806803 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_205836.1 +1 validated p.R649Q 1.000 77 0% 85 38.8% 8 37.5% possibly_damaging(0.939) deleterious(0) deleterious(0.829) NULL GRPEL2 134266 genome.wustl.edu 37 5 148730659 148730659 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152407.3 +1 validated p.E164 1.000 95 0% 146 47.9% 13 46.1% - - - HMMPfam_GrpE,superfamily_GrpE_head PDE6A 5145 genome.wustl.edu 37 5 149247680 149247680 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000440.2 -1 reviewed p.K726T 1.000 138 0% 180 17.8% 0 - probably_damaging(0.989) deleterious(0) deleterious(0.884) HMMPfam_PDEase_I,HMMSmart_HDc,superfamily_SSF109604 CAMK2A 815 genome.wustl.edu 37 5 149631587 149631587 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015981.3 -1 reviewed p.R186W 1.000 95 0% 129 43.4% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase CD74 972 genome.wustl.edu 37 5 149784247 149784247 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001025159.1 -1 validated p.P207 0.001 83 0% 94 50% 701 22.8% - - - superfamily_Thyroglobulin type-1 domain,HMMPfam_MHCassoc_trimer,superfamily_Class II MHC-associated invariant chain ectoplasmic trimerization domain ZNF300 91975 genome.wustl.edu 37 5 150275179 150275179 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_052860.2 -1 reviewed p.R541Q 0.999 141 0% 235 45.1% 0 - probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ANXA6 309 genome.wustl.edu 37 5 150514015 150514015 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001155.3 -1 reviewed p.S173 0.968 298 0% 407 38.6% 102 26.4% - - - superfamily_Annexin SLC36A3 285641 genome.wustl.edu 37 5 150666867 150666867 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001145017.1 -1 validated p.S257 0.000 192 0% 285 47.4% 0 - - - - HMMPfam_Aa_trans SLC36A1 206358 genome.wustl.edu 37 5 150858926 150858926 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_078483.2 +1 reviewed p.F345L 1.000 227 0% 298 44% 14 50% benign(0.019) tolerated(1) neutral(0.001) HMMPfam_Aa_trans FAT2 2196 genome.wustl.edu 37 5 150914015 150914015 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001447.2 -1 reviewed p.V3128M 0.012 47 0% 69 42% 13 92.3% possibly_damaging(0.874) tolerated(0.12) deleterious(0.600) HMMPfam_Cadherin,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like FAT2 2196 genome.wustl.edu 37 5 150920325 150920325 + Splice_Site SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001447.2 -1 reviewed e10-1 1.000 82 0% 126 37.3% 0 - - - - - FAT2 2196 genome.wustl.edu 37 5 150947406 150947406 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001447.2 -1 reviewed p.E363K 1.000 137 0% 168 36.9% 2 100% benign(0.188) tolerated(0.21) neutral(0.061) superfamily_Cadherin-like FAT2 2196 genome.wustl.edu 37 5 150948037 150948037 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001447.2 -1 reviewed p.S152 0.004 112 0% 100 48% 1 100% - - - superfamily_Cadherin-like SPARC 6678 genome.wustl.edu 37 5 151046053 151046053 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003118.2 -1 provisional p.E201D 1.000 63 0% 95 48.4% 674 0% possibly_damaging(0.761) tolerated(0.3) neutral(0.310) HMMPfam_SPARC_Ca_bdg,superfamily_EF-hand GRIA1 2890 genome.wustl.edu 37 5 153026600 153026600 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000827.3 +1 reviewed p.P111 0.113 206 0% 305 43.6% 0 - - - - HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I MFAP3 4238 genome.wustl.edu 37 5 153429120 153429120 + RNA SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NR_024152.1 +1 validated NULL 0.527 19 0% 16 43.8% 0 - - - - - MFAP3 4238 genome.wustl.edu 37 5 153429391 153429391 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005927.4 +1 validated p.R37C 0.004 198 0% 271 43.5% 7 100% benign(0.054) deleterious(0.01) neutral(0.409) NULL GALNT10 55568 genome.wustl.edu 37 5 153765888 153765888 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_198321.3 +1 reviewed p.A318 0.998 135 0% 174 44.3% 30 63.3% - - - HMMPfam_Glycos_transf_2,superfamily_Nucleotide-diphospho-sugar transferases C5orf4 10826 genome.wustl.edu 37 5 154214274 154214274 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032385.3 -1 validated p.F52C 1.000 128 0% 126 46.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL HAVCR1 26762 genome.wustl.edu 37 5 156464342 156464342 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001099414.1 -1 reviewed p.A290T 0.000 180 0% 232 46.1% 0 - benign(0.269) deleterious(0.05) neutral(0.374) NULL ITK 3702 genome.wustl.edu 37 5 156641222 156641222 + Silent SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005546.3 +1 reviewed p.L116 0.989 144 0% 205 47.8% 0 - - - - HMMSmart_SM00107,superfamily_PH domain-like CYFIP2 26999 genome.wustl.edu 37 5 156757852 156757852 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001037332.2 +1 validated p.H753 0.787 207 0% 266 43.6% 21 33.3% - - - HMMPfam_FragX_IP SOX30 11063 genome.wustl.edu 37 5 157065382 157065382 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_178424.1 -1 reviewed p.P579Q 0.828 148 0% 230 46.5% 0 - probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL CLINT1 9685 genome.wustl.edu 37 5 157236642 157236642 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014666.2 -1 validated p.R230I 1.000 185 0% 179 43.6% 30 46.6% probably_damaging(0.986) tolerated(0.1) deleterious(0.721) NULL EBF1 1879 genome.wustl.edu 37 5 158135111 158135111 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024007.3 -1 validated p.I540 1.000 249 0% 389 45.8% 8 0% - - - NULL IL12B 3593 genome.wustl.edu 37 5 158753731 158753731 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002187.2 -1 reviewed p.L20 0.259 175 0% 197 43.1% 0 - - - - NULL PWWP2A 114825 genome.wustl.edu 37 5 159519671 159519671 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001130864.1 -1 validated p.K662N 1.000 72 0% 94 10.6% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PWWP,HMMSmart_SM00293,superfamily_Tudor/PWWP/MBT C1QTNF2 114898 genome.wustl.edu 37 5 159781949 159781949 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_031908.4 -1 validated p.R69C 0.762 53 0% 78 28.2% 3 0% unknown(0) deleterious(0) - NULL ATP10B 23120 genome.wustl.edu 37 5 160034003 160034003 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_025153.2 -1 validated p.R977C 0.000 147 0% 174 38.5% 0 - benign(0.001) tolerated(0.09) neutral(0.296) superfamily_HAD-like GABRA6 2559 genome.wustl.edu 37 5 161116062 161116062 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000811.2 +1 reviewed p.I111 0.999 87 0% 148 12.8% 0 - - - - HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like GABRA6 2559 genome.wustl.edu 37 5 161119083 161119083 + Silent SNP C C T rs148840190 TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000811.2 +1 reviewed p.F321 0.981 220 0% 309 48.2% 0 - - - - HMMPfam_Neur_chan_memb,superfamily_Neurotransmitter-gated ion-channel transmembrane pore GABRA1 2554 genome.wustl.edu 37 5 161300227 161300227 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000806.5 +1 reviewed p.K120N 1.000 99 0% 114 47.4% 0 - benign(0.096) deleterious(0.03) neutral(0.371) HMMPfam_Neur_chan_LBD,superfamily_Neur_chan_LBD GABRA1 2554 genome.wustl.edu 37 5 161309605 161309605 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000806.5 +1 reviewed p.E201* 1.000 196 0% 286 47.6% 0 - - - - HMMPfam_Neur_chan_LBD,superfamily_Neur_chan_LBD GABRG2 2566 genome.wustl.edu 37 5 161530983 161530983 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_198903.2 +1 reviewed p.F280 1.000 284 0% 350 42% 0 - - - - HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like ODZ2 57451 genome.wustl.edu 37 5 166712059 166712059 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001122679.1 +1 inferred p.P73S 1.000 43 0% 83 34.9% 0 - benign(0) tolerated(1) - HMMPfam_Ten_N ODZ2 57451 genome.wustl.edu 37 5 167643874 167643874 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001122679.1 +1 inferred p.D1385Y 1.000 75 0% 103 37.9% 0 - probably_damaging(1) deleterious(0.05) deleterious(0.845) superfamily_Concanavalin A-like lectins/glucanases,superfamily_NHL repeat ODZ2 57451 genome.wustl.edu 37 5 167655130 167655130 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001122679.1 +1 inferred p.L1830I 1.000 47 0% 77 40.3% 0 - probably_damaging(1) tolerated(0.25) deleterious(0.537) superfamily_Concanavalin A-like lectins/glucanases ODZ2 57451 genome.wustl.edu 37 5 167674040 167674040 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001122679.1 +1 inferred p.V2023 0.998 41 0% 68 48.5% 0 - - - - HMMPfam_RHS_repeat,superfamily_Concanavalin A-like lectins/glucanases RARS 5917 genome.wustl.edu 37 5 167943842 167943842 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002887.3 +1 reviewed p.K504N 0.998 187 0% 229 38% 221 49.3% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_tRNA-synt_1d,superfamily_Nucleotidylyl transferase MIR218-2 407001 genome.wustl.edu 37 5 168195225 168195225 + RNA SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000385006 -1 known NULL 1.000 67 0% 80 37.5% 0 - - - - - SLIT3 6586 genome.wustl.edu 37 5 168678418 168678418 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003062.2 -1 validated p.F81 0.921 315 0% 377 19.6% 5 0% - - - HMMSmart_SM00369,superfamily_L domain-like CCDC99 54908 genome.wustl.edu 37 5 169015564 169015564 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017785.4 +1 validated p.M48I 0.996 129 0% 182 44% 0 - benign(0.081) tolerated(0.05) neutral(0.351) NULL DOCK2 1794 genome.wustl.edu 37 5 169483771 169483771 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004946.2 +1 validated p.A1460D 0.997 109 0% 129 43.4% 1 0% possibly_damaging(0.95) deleterious(0.03) deleterious(0.758) NULL NPM1 4869 genome.wustl.edu 37 5 170832405 170832405 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002520.6 +1 reviewed p.K257E 1.000 31 0% 40 40% 147 50.3% benign(0.086) tolerated(0.17) neutral(0.066) NULL UBTD2 92181 genome.wustl.edu 37 5 171638918 171638918 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152277.2 -1 validated p.F207 1.000 87 0% 90 37.8% 17 64.7% - - - HMMPfam_ubiquitin,HMMSmart_UBQ,superfamily_SSF54236 UBTD2 92181 genome.wustl.edu 37 5 171639194 171639194 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152277.2 -1 validated p.R115S 0.950 113 0% 163 43.6% 28 57.1% probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL RPL26L1 51121 genome.wustl.edu 37 5 172396497 172396497 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016093.2 +1 reviewed p.E131* 1.000 529 0% 548 29.9% 19 36.8% - - - NULL CREBRF 153222 genome.wustl.edu 37 5 172518007 172518007 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_153607.2 +1 validated p.E275D 0.965 75 0% 98 50% 0 - benign(0.404) tolerated(0.44) neutral(0.143) NULL NKX2-5 1482 genome.wustl.edu 37 5 172659671 172659671 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004387.3 -1 reviewed p.F292 1.000 16 0% 22 31.8% 0 - - - - NULL ENSG00000251133 0 genome.wustl.edu 37 5 175716588 175716588 + RNA SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000505928 -1 novel NULL 0.000 95 0% 103 38.8% 0 - - - - - CLTB 1212 genome.wustl.edu 37 5 175819939 175819939 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000310418 -1 known p.E176K 1.000 203 1% 256 42.2% 326 48.4% possibly_damaging(0.946) tolerated(0.11) deleterious(0.661) HMMPfam_Clathrin_lg_ch CLTB 1212 genome.wustl.edu 37 5 175843355 175843355 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000310418 -1 known p.D4Y 1.000 2 0.000 11 0.909 37 35.1% possibly_damaging(0.578) deleterious(0) deleterious(0.643) HMMPfam_Clathrin_lg_ch CDHR2 54825 genome.wustl.edu 37 5 176005393 176005393 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017675.4 +1 reviewed p.V534 0.016 45 0% 84 17.9% 1 0% - - - HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin NSD1 64324 genome.wustl.edu 37 5 176631233 176631233 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_022455.4 +1 reviewed p.F392 0.999 243 0% 294 42.5% 8 50% - - - HMMPfam_PWWP,superfamily_Tudor/PWWP/MBT NSD1 64324 genome.wustl.edu 37 5 176721424 176721424 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_022455.4 +1 reviewed p.R2352I 0.997 29 0% 51 43.1% 18 44.4% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL DDX41 51428 genome.wustl.edu 37 5 176940722 176940722 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016222.2 -1 reviewed p.F354 0.457 22 0% 41 48.8% 146 41.7% - - - HMMPfam_DEAD,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases COL23A1 91522 genome.wustl.edu 37 5 177689224 177689224 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_173465.3 -1 validated p.G223 0.012 120 0% 180 37.2% 6 16.6% - - - HMMPfam_Collagen CLK4 57396 genome.wustl.edu 37 5 178044425 178044425 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020666.2 -1 reviewed p.R132Q 1.000 252 0% 370 41.1% 12 16.6% probably_damaging(0.999) tolerated(0.08) deleterious(0.790) NULL ZNF354B 117608 genome.wustl.edu 37 5 178293318 178293318 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_058230.2 +1 validated p.R36I 0.877 350 0% 420 43.8% 7 28.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box ZFP2 80108 genome.wustl.edu 37 5 178358511 178358511 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_030613.2 +1 provisional p.S66N 0.001 158 0% 200 39% 1 100% benign(0.004) tolerated(0.09) neutral(0.296) NULL ZFP2 80108 genome.wustl.edu 37 5 178358667 178358667 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_030613.2 +1 provisional p.L118R 0.998 96 0% 120 45.8% 4 75% benign(0.005) tolerated(0.23) neutral(0.042) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF454 285676 genome.wustl.edu 37 5 178392532 178392532 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_182594.2 +1 validated p.R376I 1.000 77 0% 139 47.5% 0 - possibly_damaging(0.904) deleterious(0) deleterious(0.803) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF879 345462 genome.wustl.edu 37 5 178454500 178454500 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001136116.1 +1 provisional p.A20 0.977 285 0% 351 35.6% 10 50% possibly_damaging(0.737) - - HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF879 345462 genome.wustl.edu 37 5 178459608 178459608 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001136116.1 +1 provisional p.S220N 0.534 102 0% 99 52.5% 0 - probably_damaging(0.965) tolerated(0.17) neutral(0.466) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF879 345462 genome.wustl.edu 37 5 178460292 178460292 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001136116.1 +1 provisional p.R448I 0.996 119 0% 139 53.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF354C 30832 genome.wustl.edu 37 5 178505879 178505879 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014594.1 +1 provisional p.S149L 0.000 165 0% 192 49% 0 - benign(0.304) tolerated(0.25) neutral(0.132) NULL RUFY1 80230 genome.wustl.edu 37 5 178994560 178994560 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_025158.3 +1 validated p.L234S 0.888 258 0% 301 39.9% 12 41.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RUN,HMMSmart_SM00593 HNRNPH1 3187 genome.wustl.edu 37 5 179045265 179045265 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000510678 -1 known p.E153* 0.999 185 0% 242 34.3% 303 42.5% - - - NULL CANX 821 genome.wustl.edu 37 5 179151663 179151663 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001024649.1 +1 reviewed p.Q508H 1.000 251 0% 314 48.4% 211 45.9% benign(0.004) tolerated(0.11) neutral(0.272) NULL TBC1D9B 23061 genome.wustl.edu 37 5 179315191 179315191 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_198868.2 -1 validated p.R389K 0.989 212 0% 295 42% 89 38.2% benign(0.002) tolerated(0.76) neutral(0.001) NULL GFPT2 9945 genome.wustl.edu 37 5 179728595 179728595 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005110.2 -1 provisional p.R673I 1.000 216 0% 280 43.9% 11 9% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF53697 FLT4 2324 genome.wustl.edu 37 5 180036913 180036913 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_182925.4 -1 reviewed p.G1267C 0.999 77 0% 100 48% 8 0% benign(0.001) tolerated(0.07) neutral(0.319) NULL WRNIP1 56897 genome.wustl.edu 37 6 2779674 2779674 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020135.2 +1 reviewed p.E478D 1.000 101 0% 190 51.1% 85 44.7% possibly_damaging(0.861) tolerated(0.46) neutral(0.345) superfamily_P-loop containing nucleoside triphosphate hydrolases SERPINB9 5272 genome.wustl.edu 37 6 2890770 2890770 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004155.4 -1 validated p.A253D 0.807 103 0% 99 40.4% 3 0% benign(0.017) tolerated(0.19) neutral(0.050) HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin RIPK1 8737 genome.wustl.edu 37 6 3111190 3111190 + Splice_Site SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003804.3 +1 validated e9+1 1.000 135 0% 162 46.9% 3 66.6% - - - - BPHL 670 genome.wustl.edu 37 6 3127583 3127583 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004332.2 +1 reviewed p.R107C 0.823 216 0% 302 18.2% 11 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Abhydrolase_1,superfamily_alpha/beta-Hydrolases PXDC1 221749 genome.wustl.edu 37 6 3737393 3737393 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_183373.3 -1 validated p.R129I 1.000 273 0% 337 41.2% 2 0% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) superfamily_PX FAM50B 26240 genome.wustl.edu 37 6 3850774 3850774 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_012135.1 +1 provisional p.I243 0.900 14 0% 27 40.7% 44 93.1% - - - HMMPfam_XAP5 CDYL 9425 genome.wustl.edu 37 6 4716011 4716011 + RNA SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NR_026590.1 +1 reviewed NULL 0.500 104 0% 117 53% 0 - - - - - RREB1 6239 genome.wustl.edu 37 6 7247187 7247187 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001003699.3 +1 reviewed p.E1502K 0.002 5 0.000 18 0.500 1 0% benign(0.014) tolerated(0.23) neutral(0.042) NULL CAGE1 285782 genome.wustl.edu 37 6 7374029 7374029 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_205864.2 -1 validated p.Q205 0.687 340 0.3% 390 45.4% 0 - - - - NULL RIOK1 83732 genome.wustl.edu 37 6 7405221 7405221 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_031480.2 +1 reviewed p.E355K 1.000 127 0% 193 45.1% 43 32.5% probably_damaging(0.995) deleterious(0.01) deleterious(0.863) HMMSmart_SM00090,superfamily_Protein kinase-like (PK-like),HMMPfam_RIO1 RIOK1 83732 genome.wustl.edu 37 6 7417599 7417599 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_031480.2 +1 reviewed p.E544D 1.000 155 0% 157 47.8% 6 16.6% probably_damaging(0.966) deleterious(0.01) deleterious(0.814) NULL DSP 1832 genome.wustl.edu 37 6 7579645 7579645 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004415.2 +1 reviewed p.A1074 0.001 112 0% 141 24.8% 19 21% - - - NULL MUTED 63915 genome.wustl.edu 37 6 8062841 8062841 + Nonsense_Mutation SNP C C A rs9378517 TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_201280.1 -1 reviewed p.E41* 1.000 139 0% 141 34% 0 - - - - NULL TFAP2A 7020 genome.wustl.edu 37 6 10400775 10400775 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003220.2 -1 reviewed p.E311K 1.000 157 0% 191 44% 49 51% possibly_damaging(0.909) deleterious(0) deleterious(0.806) HMMPfam_TF_AP-2 GCNT2 2651 genome.wustl.edu 37 6 10529467 10529467 + Missense_Mutation SNP G G C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_145649.4 +1 reviewed p.G108A 0.735 119 0% 149 42.3% 13 53.8% benign(0) tolerated(0.44) neutral(0.013) HMMPfam_Branch PAK1IP1 55003 genome.wustl.edu 37 6 10709536 10709536 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017906.2 +1 validated p.R344W 0.005 261 0% 270 38.1% 22 40.9% benign(0.081) deleterious(0.02) neutral(0.389) superfamily_WD40_like PAK1IP1 55003 genome.wustl.edu 37 6 10709637 10709637 + Silent SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017906.2 +1 validated p.E377 0.000 131 0% 150 32.7% 20 10% - - - superfamily_WD40_like ERVFRD-1 405754 genome.wustl.edu 37 6 11105354 11105354 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_207582.2 -1 validated p.E64* 0.603 204 0% 263 47.1% 0 - - - - NULL PHACTR1 221692 genome.wustl.edu 37 6 13206092 13206092 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_030948.1 +1 validated p.S237L 1.000 67 0% 77 54.5% 0 - probably_damaging(0.98) deleterious(0.01) deleterious(0.830) NULL NOL7 51406 genome.wustl.edu 37 6 13616699 13616699 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016167.3 +1 provisional p.R111I 1.000 157 0% 165 43% 14 35.7% probably_damaging(0.981) deleterious(0) deleterious(0.870) NULL JARID2 3720 genome.wustl.edu 37 6 15507482 15507482 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004973.2 +1 reviewed p.S886L 1.000 99 0% 153 45.1% 56 44.6% probably_damaging(0.995) deleterious(0.05) deleterious(0.803) HMMSmart_SM00558 CAP2 10486 genome.wustl.edu 37 6 17463261 17463261 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006366.2 +1 reviewed p.R86Q 1.000 189 0.5% 247 45.7% 10 50% probably_damaging(0.99) tolerated(0.2) deleterious(0.490) HMMPfam_CAP_N,superfamily_N-terminal domain of adenylylcyclase associated protein CAP CAP2 10486 genome.wustl.edu 37 6 17543321 17543321 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006366.2 +1 reviewed p.D386Y 1.000 387 0% 458 46.3% 8 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00673,HMMPfam_CAP_C,superfamily_C-terminal domain of adenylylcyclase associated protein NUP153 9972 genome.wustl.edu 37 6 17637461 17637461 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005124.2 -1 reviewed p.S796Y 1.000 146 0% 197 26.9% 10 0% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMPfam_zf-RanBP,HMMSmart_ZnF_RBZ NHLRC1 378884 genome.wustl.edu 37 6 18122093 18122093 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_198586.2 -1 reviewed p.G249W 0.934 28 0% 30 43.3% 5 20% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF101898 NHLRC1 378884 genome.wustl.edu 37 6 18122475 18122475 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_198586.2 -1 reviewed p.G121 0.127 12 0% 24 54.2% 2 100% - - - NULL KDM1B 221656 genome.wustl.edu 37 6 18171678 18171678 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_153042.3 +1 validated p.R168* 1.000 510 0% 636 36.9% 9 0% - - - HMMPfam_zf-CW MBOAT1 154141 genome.wustl.edu 37 6 20128943 20128943 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001080480.1 -1 provisional p.R173* 0.788 364 0% 428 28.7% 15 20% - - - HMMPfam_MBOAT E2F3 1871 genome.wustl.edu 37 6 20490607 20490607 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001949.3 +1 reviewed p.F448 0.689 104 0% 127 50.4% 4 50% - - - NULL PRL 5617 genome.wustl.edu 37 6 22294638 22294638 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000948.4 -1 validated p.F68 0.997 116 0% 168 39.3% 0 - - - - HMMPfam_Hormone_1,superfamily_4-helical cytokines PRL 5617 genome.wustl.edu 37 6 22294643 22294643 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000948.4 -1 validated p.E67K 0.968 126 0% 174 49.4% 0 - probably_damaging(0.993) deleterious(0) deleterious(0.895) HMMPfam_Hormone_1,superfamily_4-helical cytokines GPLD1 2822 genome.wustl.edu 37 6 24447103 24447103 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001503.2 -1 reviewed p.L595 0.997 106 0% 136 39.7% 0 - - - - HMMSmart_SM00191,superfamily_Integrin alpha N-terminal domain GPLD1 2822 genome.wustl.edu 37 6 24450070 24450070 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001503.2 -1 reviewed p.P465S 0.485 54 0% 68 45.6% 1 0% benign(0.001) tolerated(0.84) neutral(0.001) HMMPfam_FG-GAP,HMMSmart_SM00191,superfamily_Integrin alpha N-terminal domain KIAA0319 9856 genome.wustl.edu 37 6 24547493 24547493 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014809.3 -1 reviewed p.I1040S 0.999 321 0% 405 43% 0 - probably_damaging(0.975) deleterious(0) deleterious(0.861) NULL TDP2 51567 genome.wustl.edu 37 6 24658813 24658813 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016614.2 -1 reviewed p.R134Q 1.000 305 0.3% 380 45.5% 10 60% benign(0.281) tolerated(0.07) neutral(0.405) HMMPfam_Exo_endo_phos,superfamily_Exo_endo_phos FAM65B 9750 genome.wustl.edu 37 6 24850070 24850070 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014722.2 -1 validated p.D303Y 1.000 98 0% 124 41.9% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL FAM65B 9750 genome.wustl.edu 37 6 24873875 24873875 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014722.2 -1 validated p.L85R 0.998 442 0% 512 43.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL LRRC16A 55604 genome.wustl.edu 37 6 25538132 25538132 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017640.5 +1 validated p.R706Q 1.000 217 0% 276 39.9% 8 37.5% probably_damaging(0.975) tolerated(0.33) neutral(0.441) NULL SLC17A2 10246 genome.wustl.edu 37 6 25924040 25924040 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005835.2 -1 validated p.A41 0.669 179 0% 298 46.3% 0 - - - - HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter TRIM38 10475 genome.wustl.edu 37 6 25983666 25983666 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006355.2 +1 reviewed p.W383C 1.000 233 0% 250 19.6% 9 11.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SPRY,HMMSmart_SPRY BTN2A1 11120 genome.wustl.edu 37 6 26459970 26459970 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_007049.2 +1 reviewed p.I115S 0.875 153 0% 201 42.3% 36 41.6% benign(0.002) deleterious(0) neutral(0.445) HMMSmart_SM00406,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin PRSS16 10279 genome.wustl.edu 37 6 27215728 27215728 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005865.3 +1 reviewed p.G46 0.000 46 0% 57 26.3% 0 - - - - NULL HIST1H2AM 8336 genome.wustl.edu 37 6 27860662 27860662 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003514.2 -1 reviewed p.R89H 1.000 241 0% 323 44.3% 6 50% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMSmart_SM00414,HMMPfam_Histone,superfamily_Histone-fold NKAPL 222698 genome.wustl.edu 37 6 28227418 28227418 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001007531.1 +1 provisional p.S90L 0.000 47 2.1% 62 37.1% 0 - unknown(0) tolerated(0.41) - NULL NKAPL 222698 genome.wustl.edu 37 6 28228244 28228244 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001007531.1 +1 provisional p.E365D 1.000 291 0% 442 45.7% 0 - probably_damaging(0.996) tolerated(0.07) deleterious(0.780) HMMPfam_DUF926 ZKSCAN3 80317 genome.wustl.edu 37 6 28333471 28333471 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024493.2 +1 validated p.Y342 0.044 183 0% 252 45.2% 8 25% - - - HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,superfamily_SSF57667 GPX6 257202 genome.wustl.edu 37 6 28472081 28472081 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_182701.1 -1 reviewed p.F218L 0.000 293 0% 337 14.2% 0 - benign(0.003) tolerated(0.46) neutral(0.012) NULL SCAND3 114821 genome.wustl.edu 37 6 28540701 28540701 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_052923.1 -1 provisional p.E989* 0.984 156 0% 202 42.6% 0 - - - - NULL SCAND3 114821 genome.wustl.edu 37 6 28543486 28543486 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_052923.1 -1 provisional p.A332 1.000 395 0% 563 42.1% 0 - - - - NULL MDC1 9656 genome.wustl.edu 37 6 30671690 30671690 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014641.2 -1 reviewed p.R1757I 0.825 104 0% 115 42.6% 13 53.8% probably_damaging(0.959) deleterious(0.02) deleterious(0.786) NULL DDR1 780 genome.wustl.edu 37 6 30864593 30864593 + Missense_Mutation SNP G G A rs140296720 TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_013994.2 +1 reviewed p.R607Q 0.995 55 0% 66 43.9% 98 50% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Protein kinase-like (PK-like) MUC21 394263 genome.wustl.edu 37 6 30955424 30955424 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001010909.2 +1 validated p.A491V 0.000 352 0% 476 45.4% 0 - benign(0.176) deleterious(0) neutral(0.461) NULL C6orf25 80739 genome.wustl.edu 37 6 31692658 31692658 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000480039 +1 known p.L220I 0.007 48 0% 44 59.1% 0 - unknown(0) - - NULL MSH5 4439 genome.wustl.edu 37 6 31713026 31713026 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_025259.5 +1 reviewed p.I249M 1.000 201 0% 250 48.8% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MutS_III TNXB 7148 genome.wustl.edu 37 6 32037363 32037363 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_019105.6 -1 reviewed p.R1852C 0.118 20 0% 22 45.5% 1 0% probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III RING1 6015 genome.wustl.edu 37 6 33177558 33177558 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002931.3 +1 reviewed p.R78 0.979 17 0% 22 54.5% 135 42.9% - - - HMMSmart_SM00184,HMMPfam_zf-C3HC4,superfamily_RING/U-box TAPBP 6892 genome.wustl.edu 37 6 33272136 33272136 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003190.4 -1 reviewed p.R383Q 0.885 17 0% 34 38.2% 239 33% probably_damaging(1) tolerated(0.35) deleterious(0.520) HMMPfam_C1-set,superfamily_SSF48726 DAXX 1616 genome.wustl.edu 37 6 33290653 33290653 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001141970.1 -1 reviewed p.E13D 1.000 62 0% 65 46.2% 14 42.8% - - - NULL KIFC1 3833 genome.wustl.edu 37 6 33371102 33371102 + Missense_Mutation SNP T T A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002263.3 +1 validated p.S88T 0.996 149 0% 179 48% 25 36% benign(0.242) tolerated(0.06) neutral(0.347) NULL ZBTB9 221504 genome.wustl.edu 37 6 33423747 33423747 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152735.3 +1 validated p.F290 0.558 58 0% 90 45.6% 11 54.5% - - - NULL ITPR3 3710 genome.wustl.edu 37 6 33662782 33662782 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002224.2 +1 validated p.R2623W 1.000 65 0% 99 11.1% 156 5.7% probably_damaging(1) deleterious(0) deleterious(0.945) NULL UHRF1BP1 54887 genome.wustl.edu 37 6 34826258 34826258 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017754.3 +1 validated p.E709* 1.000 163 0% 189 14.8% 0 - - - - NULL TCP11 6954 genome.wustl.edu 37 6 35096850 35096850 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001093728.1 -1 validated p.E129* 0.987 167 0% 208 50.5% 0 - - - - HMMPfam_Tcp11 SCUBE3 222663 genome.wustl.edu 37 6 35209655 35209655 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152753.2 +1 provisional p.N462S 0.000 40 0% 48 41.7% 17 23.5% benign(0) tolerated(1) - NULL TEAD3 7005 genome.wustl.edu 37 6 35442860 35442860 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000402886 -1 known p.H363 0.929 93 0% 97 53.6% 57 45.6% - - - HMMPfam_TEA FKBP5 2289 genome.wustl.edu 37 6 35587931 35587931 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001145775.1 -1 reviewed p.S124L 1.000 131 0% 165 47.3% 0 - possibly_damaging(0.661) deleterious(0.01) deleterious(0.639) HMMPfam_FKBP_C,superfamily_FKBP-like CLPSL1 340204 genome.wustl.edu 37 6 35755774 35755774 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001010886.3 +1 predicted p.K118T 0.000 553 0% 583 20.1% 3 0% possibly_damaging(0.952) deleterious(0) deleterious(0.840) NULL SRPK1 6732 genome.wustl.edu 37 6 35854589 35854589 + Splice_Site SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003137.3 -1 reviewed e6-1 1.000 295 0% 346 39.3% 1 0% - - - - SLC26A8 116369 genome.wustl.edu 37 6 35945088 35945088 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_052961.2 -1 reviewed p.K356Q 0.000 419 0% 458 44.5% 0 - benign(0.001) tolerated(0.51) neutral(0.009) HMMPfam_Sulfate_transp SLC26A8 116369 genome.wustl.edu 37 6 35967801 35967801 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_052961.2 -1 reviewed p.V138A 0.097 182 0% 215 10.7% 1 0% possibly_damaging(0.442) tolerated(0.22) neutral(0.186) NULL SLC26A8 116369 genome.wustl.edu 37 6 35980079 35980079 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_052961.2 -1 reviewed p.R87* 1.000 217 0% 290 47.2% 0 - - - - NULL ETV7 51513 genome.wustl.edu 37 6 36353349 36353349 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016135.2 -1 provisional p.L35P 0.002 153 0% 162 40.1% 1 0% benign(0.049) tolerated(0.17) neutral(0.062) HMMSmart_SM00251,superfamily_SAM/Pointed domain PXT1 222659 genome.wustl.edu 37 6 36359630 36359630 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152990.3 -1 validated p.D25Y 0.004 176 0% 198 40.9% 0 - benign(0.031) deleterious(0.02) neutral(0.385) NULL KCTD20 222658 genome.wustl.edu 37 6 36437875 36437875 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_173562.3 +1 provisional p.M1V 1.000 143 0% 169 43.2% 12 25% benign(0.382) deleterious(0) deleterious(0.567) NULL MDGA1 266727 genome.wustl.edu 37 6 37611586 37611586 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000418178 -1 known p.S155L 0.214 95 0% 100 36% 1 0% - - - HMMPfam_MAM,HMMSmart_SM00137 MDGA1 266727 genome.wustl.edu 37 6 37614067 37614067 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_153487.3 -1 validated p.L711I 1.000 68 0% 97 43.3% 1 0% probably_damaging(0.995) deleterious(0) deleterious(0.902) superfamily_Fibronectin type III DNAH8 1769 genome.wustl.edu 37 6 38702259 38702259 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000373278 +1 known p.R207Q 0.998 173 0% 240 41.7% 0 - benign(0.011) tolerated(0.13) neutral(0.253) NULL DNAH8 1769 genome.wustl.edu 37 6 38790731 38790731 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001371.2 +1 validated p.R997I 0.060 227 0% 261 44.8% 0 - possibly_damaging(0.804) deleterious(0) deleterious(0.747) NULL DNAH8 1769 genome.wustl.edu 37 6 38818089 38818089 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001371.2 +1 validated p.E1537D 1.000 254 0% 323 43.3% 0 - possibly_damaging(0.523) tolerated(0.2) neutral(0.225) HMMPfam_DHC_N2 DNAH8 1769 genome.wustl.edu 37 6 38905789 38905789 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001371.2 +1 validated p.R3651Q 0.042 131 0% 177 46.9% 0 - benign(0.005) tolerated(0.59) neutral(0.004) NULL KIF6 221458 genome.wustl.edu 37 6 39580978 39580978 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_145027.4 -1 validated p.R209Q 1.000 234 0% 273 28.2% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases DAAM2 23500 genome.wustl.edu 37 6 39828790 39828790 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015345.2 +1 validated p.K85N 1.000 187 0% 208 40.9% 1 0% probably_damaging(0.98) deleterious(0) deleterious(0.869) HMMPfam_Drf_GBD TRERF1 55809 genome.wustl.edu 37 6 42330684 42330684 + Splice_Site SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000340840 -1 known e0+1 0.000 60 0% 69 53.6% 0 - - - - - UBR2 23304 genome.wustl.edu 37 6 42600362 42600362 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015255.2 +1 reviewed p.R452* 0.998 160 0% 209 45.5% 2 50% - - - NULL PPP2R5D 5528 genome.wustl.edu 37 6 42975704 42975704 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006245.2 +1 reviewed p.R253Q 1.000 157 0% 220 44.5% 25 36% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_B56 RRP36 88745 genome.wustl.edu 37 6 42996894 42996894 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_033112.2 +1 provisional p.E236D 1.000 105 0% 100 23% 81 22.2% possibly_damaging(0.931) tolerated(0.25) neutral(0.414) HMMPfam_DUF947 CUL7 9820 genome.wustl.edu 37 6 43006702 43006702 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014780.4 -1 reviewed p.R1440* 0.000 46 0% 78 47.4% 115 21.7% - - - HMMPfam_Cullin,superfamily_Cullin_homology MRPL2 51069 genome.wustl.edu 37 6 43022075 43022075 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015950.3 -1 reviewed p.K285N 1.000 35 0% 40 20% 68 11.7% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_Transl_SH3_like MRPL2 51069 genome.wustl.edu 37 6 43023675 43023675 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015950.3 -1 reviewed p.E197D 1.000 151 0% 160 43.1% 87 57.4% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_Ribosomal_L2_C,superfamily_Transl_SH3_like KLC4 89953 genome.wustl.edu 37 6 43033372 43033372 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_201523.1 +1 validated p.G186 0.006 67 0% 74 37.8% 32 37.5% - - - HMMPfam_Rab5-bind,superfamily_TPR-like CUL9 23113 genome.wustl.edu 37 6 43152128 43152128 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015089.2 +1 validated p.R27Q 1.000 138 0% 156 11.5% 12 8.3% unknown(0) deleterious(0) - NULL SLC22A7 10864 genome.wustl.edu 37 6 43267774 43267774 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_153320.2 +1 reviewed p.L266P 1.000 137 0% 189 13.2% 0 - possibly_damaging(0.637) tolerated(0.25) neutral(0.260) HMMPfam_MFS_1,superfamily_MFS general substrate transporter ZNF318 24149 genome.wustl.edu 37 6 43305315 43305315 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014345.2 -1 validated p.E2141* 0.953 102 0% 126 45.2% 2 50% - - - NULL ABCC10 89845 genome.wustl.edu 37 6 43406475 43406475 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_033450.2 +1 reviewed p.F662C 0.973 110 0% 161 50.9% 18 72.2% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_ABC_tran,HMMSmart_AAA,superfamily_SSF52540 XPO5 57510 genome.wustl.edu 37 6 43495919 43495919 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020750.2 -1 validated p.I934V 1.000 207 0% 194 50% 2 0% unknown(0) deleterious(0) - NULL XPO5 57510 genome.wustl.edu 37 6 43501719 43501719 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020750.2 -1 validated p.E790* 1.000 347 0% 364 39% 5 40% - - - superfamily_ARM repeat XPO5 57510 genome.wustl.edu 37 6 43519110 43519110 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020750.2 -1 validated p.C551 0.999 244 0% 284 45.1% 10 0% - - - superfamily_ARM repeat POLH 5429 genome.wustl.edu 37 6 43578403 43578403 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006502.2 +1 reviewed p.S396I 1.000 67 0% 93 34.4% 11 9% possibly_damaging(0.723) tolerated(0.12) deleterious(0.523) HMMPfam_IMS POLH 5429 genome.wustl.edu 37 6 43581993 43581993 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006502.2 +1 reviewed p.L614P 0.000 78 0% 122 55.7% 11 45.4% benign(0.114) deleterious(0.03) neutral(0.373) NULL GTPBP2 54676 genome.wustl.edu 37 6 43593965 43593965 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_019096.3 -1 validated p.E132D 1.000 46 0% 81 43.2% 26 42.3% benign(0.003) tolerated(0.44) neutral(0.013) NULL RSPH9 221421 genome.wustl.edu 37 6 43618169 43618169 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000417236 +1 known p.V20I 0.800 250 0% 314 43.6% 0 - - - - NULL CAPN11 11131 genome.wustl.edu 37 6 44144711 44144711 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_007058.3 +1 reviewed p.A405T 0.999 60 0% 104 47.1% 0 - benign(0.069) deleterious(0) neutral(0.449) HMMPfam_Calpain_III,HMMSmart_calpain_III,superfamily_Peptidase_C2 HSP90AB1 3326 genome.wustl.edu 37 6 44220885 44220885 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_007355.2 +1 provisional p.R612Q 1.000 78 0% 118 46.6% 1014 47.1% probably_damaging(0.992) deleterious(0) deleterious(0.892) HMMPfam_HSP90,superfamily_HSP90 C-terminal domain (C-terminal part of Pfam 00183) RUNX2 860 genome.wustl.edu 37 6 45514906 45514906 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001024630.3 +1 reviewed p.S545L 1.000 115 0% 153 45.1% 1 0% possibly_damaging(0.527) deleterious(0) deleterious(0.623) HMMPfam_RunxI RUNX2 860 genome.wustl.edu 37 6 45514984 45514984 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001024630.3 +1 reviewed p.S571Y 1.000 82 0% 97 39.2% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_RunxI ENPP4 22875 genome.wustl.edu 37 6 46107981 46107981 + Missense_Mutation SNP C C G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014936.4 +1 validated p.L221V 1.000 127 0% 197 41.6% 19 52.6% possibly_damaging(0.854) tolerated(0.11) deleterious(0.601) HMMPfam_Phosphodiest,superfamily_Alkaline_phosphatase_core ENPP4 22875 genome.wustl.edu 37 6 46108085 46108085 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014936.4 +1 validated p.I255 0.001 150 0% 225 16.9% 18 5.5% - - - HMMPfam_Phosphodiest,superfamily_Alkaline_phosphatase_core RCAN2 10231 genome.wustl.edu 37 6 46214575 46214575 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005822.2 -1 validated p.S115P 0.986 108 0% 131 38.9% 0 - benign(0) tolerated(0.15) neutral(0.241) HMMPfam_Calcipressin CYP39A1 51302 genome.wustl.edu 37 6 46518110 46518110 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016593.3 -1 reviewed p.R468I 0.997 302 0% 368 17.4% 4 50% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Cytochrome P450 TDRD6 221400 genome.wustl.edu 37 6 46659051 46659051 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001010870.2 +1 validated p.V1062 0.815 138 0% 189 41.3% 0 - - - - HMMSmart_TUDOR,HMMPfam_TUDOR,superfamily_SSF63748 PLA2G7 7941 genome.wustl.edu 37 6 46672297 46672297 + Nonstop_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005084.3 -1 reviewed p.*442Y 0.002 168 0% 204 43.1% 0 - - - - NULL PLA2G7 7941 genome.wustl.edu 37 6 46679236 46679236 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005084.3 -1 reviewed p.E220 0.003 456 0% 653 45.3% 0 - - - - HMMPfam_PAF-AH_p_II,superfamily_SSF53474 MEP1A 4224 genome.wustl.edu 37 6 46777242 46777242 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005588.2 +1 validated p.E116D 0.465 302 0% 335 15.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Astacin,HMMSmart_ZnMc,superfamily_SSF55486 GPR116 221395 genome.wustl.edu 37 6 46836803 46836803 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001098518.1 -1 validated p.I480L 1.000 302 0% 356 17.4% 3 0% possibly_damaging(0.946) tolerated(1) neutral(0.390) HMMSmart_SM00409,superfamily_Immunoglobulin GPR111 222611 genome.wustl.edu 37 6 47650309 47650309 + Missense_Mutation SNP G G A rs144129468 by1000genomes TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_153839.6 +1 validated p.D604N 0.000 87 0% 133 41.4% 0 - benign(0) tolerated(0.47) neutral(0.011) HMMPfam_7tm_2 MUT 4594 genome.wustl.edu 37 6 49426914 49426914 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000255.3 -1 reviewed p.K89T 1.000 238 0% 314 43% 29 58.6% benign(0.005) tolerated(0.07) neutral(0.319) HMMPfam_MM_CoA_mutase,superfamily_Cobalamin (vitamin B12)-dependent enzymes CRISP1 167 genome.wustl.edu 37 6 49808636 49808636 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001131.2 -1 reviewed p.L170I 0.000 137 0% 164 45.1% 0 - possibly_damaging(0.439) deleterious(0.05) deleterious(0.488) HMMSmart_SM00198,HMMPfam_SCP,superfamily_PR-1-like,PatternScan_CRISP_2 PKHD1 5314 genome.wustl.edu 37 6 51612726 51612726 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_138694.3 -1 reviewed p.D3230N 0.724 110 0% 168 48.2% 0 - probably_damaging(0.998) tolerated(1) deleterious(0.474) NULL PKHD1 5314 genome.wustl.edu 37 6 51750691 51750691 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_138694.3 -1 reviewed p.V2397F 0.845 101 0% 134 46.3% 0 - probably_damaging(0.991) deleterious(0.03) deleterious(0.808) superfamily_Pectin lyase-like PKHD1 5314 genome.wustl.edu 37 6 51890888 51890888 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_138694.3 -1 reviewed p.V1240 0.073 57 0% 99 42.4% 0 - - - - HMMPfam_TIG,HMMSmart_SM00429,superfamily_E set domains GSTA1 2938 genome.wustl.edu 37 6 52658946 52658946 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_145740.3 -1 reviewed p.R131C 0.000 506 0% 593 42.5% 31 38.7% probably_damaging(0.982) deleterious(0.02) deleterious(0.809) HMMPfam_GST_C,superfamily_Glutathione S-transferase (GST) C-terminal domain GSTA3 2940 genome.wustl.edu 37 6 52768510 52768510 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000847.4 -1 reviewed p.I35V 0.003 333 0.3% 459 39.9% 0 - benign(0) tolerated(0.19) neutral(0.050) HMMPfam_GST_N,superfamily_Thioredoxin-like FBXO9 26268 genome.wustl.edu 37 6 52945803 52945803 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_012347.4 +1 reviewed p.L159F 1.000 182 0% 234 45.3% 51 52.9% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL FBXO9 26268 genome.wustl.edu 37 6 52962583 52962583 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000473318 +1 known p.S182L 0.941 155 0% 218 44.5% 40 37.5% - - - NULL LRRC1 55227 genome.wustl.edu 37 6 53785514 53785514 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018214.4 +1 validated p.A457 0.117 302 0% 381 40.7% 74 50% - - - NULL FAM83B 222584 genome.wustl.edu 37 6 54804760 54804760 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001010872.1 +1 validated p.K331E 0.665 107 0% 159 42.8% 2 50% benign(0.147) deleterious(0.01) neutral(0.419) NULL FAM83B 222584 genome.wustl.edu 37 6 54805141 54805141 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001010872.1 +1 validated p.D458Y 1.000 116 0% 107 42.1% 0 - benign(0.002) deleterious(0.01) neutral(0.406) NULL BMP5 653 genome.wustl.edu 37 6 55739342 55739342 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_021073.2 -1 reviewed p.E108* 1.000 185 0% 219 16% 0 - - - - HMMPfam_TGFb_propeptide COL21A1 81578 genome.wustl.edu 37 6 55922468 55922468 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_030820.3 -1 reviewed p.G954E 1.000 167 0% 204 39.7% 7 57.1% unknown(0) deleterious(0) - NULL COL21A1 81578 genome.wustl.edu 37 6 55923987 55923987 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_030820.3 -1 reviewed p.E888* 0.996 171 0% 292 41.4% 10 10% - - - NULL COL21A1 81578 genome.wustl.edu 37 6 55924868 55924868 + Splice_Site SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000467216 -1 known NULL 0.993 128 0% 170 29.4% 12 50% - - - - DST 667 genome.wustl.edu 37 6 56327871 56327871 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015548.4 -1 reviewed p.C5034* 1.000 235 0% 387 43.4% 235 12.3% - - - NULL DST 667 genome.wustl.edu 37 6 56342186 56342186 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015548.4 -1 reviewed p.T4588I 1.000 462 0.2% 642 42.8% 84 13% possibly_damaging(0.869) - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat DST 667 genome.wustl.edu 37 6 56374626 56374626 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015548.4 -1 reviewed p.V3653M 1.000 256 0% 372 30.1% 44 2.2% possibly_damaging(0.912) - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat DST 667 genome.wustl.edu 37 6 56394442 56394442 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015548.4 -1 reviewed p.V3177G 0.999 296 0% 405 44.9% 14 21.4% benign(0.034) - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat DST 667 genome.wustl.edu 37 6 56458517 56458517 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015548.4 -1 reviewed p.E1601* 1.000 116 0% 144 43.8% 1 100% - - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat DST 667 genome.wustl.edu 37 6 56471862 56471862 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000370769 -1 known p.H2311N 0.000 169 0.6% 239 43.9% 0 - benign(0.073) deleterious(0) neutral(0.450) NULL DST 667 genome.wustl.edu 37 6 56496794 56496794 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015548.4 -1 reviewed p.R747* 1.000 271 0% 349 44.4% 0 - - - - superfamily_Spectrin repeat DST 667 genome.wustl.edu 37 6 56499366 56499366 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015548.4 -1 reviewed p.R593C 1.000 145 0% 203 38.4% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Spectrin repeat DST 667 genome.wustl.edu 37 6 56535494 56535494 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000370769 -1 known p.F176V 1.000 182 0% 187 40.1% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_CH,HMMSmart_SM00033,superfamily_Calponin-homology domain CH-domain DST 667 genome.wustl.edu 37 6 56819234 56819234 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000370754 -1 known p.S51L 1.000 56 0% 76 48.7% 0 - benign(0.076) deleterious(0) neutral(0.450) superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain KIAA1586 57691 genome.wustl.edu 37 6 56919280 56919280 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020931.2 +1 validated p.I661M 0.654 35 0% 33 39.4% 0 - possibly_damaging(0.706) tolerated(0.18) neutral(0.310) NULL ZNF451 26036 genome.wustl.edu 37 6 57012053 57012053 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001031623.2 +1 validated p.V390 0.000 99 0% 114 48.2% 4 0% - - - NULL ZNF451 26036 genome.wustl.edu 37 6 57013005 57013005 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001031623.2 +1 validated p.E708K 0.923 72 0% 71 40.8% 1 0% probably_damaging(0.983) tolerated(0.24) neutral(0.466) NULL ZNF451 26036 genome.wustl.edu 37 6 57013323 57013323 + Missense_Mutation SNP T T A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001031623.2 +1 validated p.F814I 0.998 213 0% 242 43.4% 2 0% benign(0.282) tolerated(0.4) neutral(0.102) NULL PRIM2 5558 genome.wustl.edu 37 6 57512550 57512550 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000425433 +1 known p.D460Y 1.000 1032 0.1% 1236 13.7% 4 50% - - - NULL PRIM2 5558 genome.wustl.edu 37 6 57512666 57512666 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000425433 +1 known p.M498I 0.994 671 0% 742 16.4% 5 0% - - - NULL FKBP1C 642489 genome.wustl.edu 37 6 63921546 63921546 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000370659 +1 known p.G29R 0.995 162 0.6% 203 45.3% 12 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_FKBP_C,superfamily_SSF54534 EYS 346007 genome.wustl.edu 37 6 64940617 64940617 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001142800.1 -1 reviewed p.A2098S 0.000 73 0% 126 38.1% 0 - benign(0.282) - - superfamily_Concanavalin A-like lectins/glucanases EYS 346007 genome.wustl.edu 37 6 65098608 65098608 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001142800.1 -1 reviewed p.F2018C 0.503 269 0% 281 38.1% 0 - probably_damaging(0.989) - - HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 EYS 346007 genome.wustl.edu 37 6 65612390 65612390 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001142800.1 -1 reviewed p.F882C 1.000 182 0% 271 43.2% 0 - possibly_damaging(0.911) - - HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,PatternScan_EGF_1,superfamily_EGF/Laminin EYS 346007 genome.wustl.edu 37 6 66200596 66200596 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001142800.1 -1 reviewed p.K251 0.696 129 0% 153 43.1% 0 - - - - HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_EGF/Laminin BAI3 577 genome.wustl.edu 37 6 69665971 69665971 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001704.2 +1 reviewed p.S417 0.399 155 0% 217 40.1% 1 0% - - - HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat COL19A1 1310 genome.wustl.edu 37 6 70672759 70672759 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001858.4 +1 reviewed p.E341D 1.000 106 0% 153 48.4% 0 - unknown(0) tolerated(0.53) - HMMPfam_Collagen FAM135A 57579 genome.wustl.edu 37 6 71186900 71186900 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001105531.2 +1 validated p.R136Q 1.000 281 0.4% 342 39.5% 4 0% probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL FAM135A 57579 genome.wustl.edu 37 6 71235403 71235403 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001105531.2 +1 validated p.L676F 0.987 95 0% 123 43.9% 0 - benign(0.08) tolerated(0.19) neutral(0.055) NULL SMAP1 60682 genome.wustl.edu 37 6 71442144 71442144 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001044305.1 +1 reviewed p.R61I 1.000 434 0% 521 43.6% 17 17.6% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_ArfGap,HMMSmart_SM00105,superfamily_Pyk2-associated protein beta ARF-GAP domain KCNQ5 56479 genome.wustl.edu 37 6 73905002 73905002 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_019842.3 +1 reviewed p.A888 0.000 78 0% 88 39.8% 0 - - - - NULL COL12A1 1303 genome.wustl.edu 37 6 75831017 75831017 + Splice_Site SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004370.5 -1 reviewed e43+1 1.000 101 0% 106 46.2% 0 - - - - - FILIP1 27145 genome.wustl.edu 37 6 76124542 76124542 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015687.2 -1 validated p.V49 1.000 332 0.3% 434 16.8% 0 - - - - NULL MYO6 4646 genome.wustl.edu 37 6 76595778 76595778 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004999.3 +1 reviewed p.R825Q 1.000 112 0.9% 125 24.8% 7 14.2% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_IQ,superfamily_P-loop containing nucleoside triphosphate hydrolases PHIP 55023 genome.wustl.edu 37 6 79726309 79726309 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017934.5 -1 validated p.R396Q 1.000 295 0% 366 45.9% 8 25% probably_damaging(0.988) tolerated(0.84) neutral(0.438) superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase LCA5 167691 genome.wustl.edu 37 6 80197371 80197371 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001122769.2 -1 reviewed p.R482* 0.001 249 0% 366 38.5% 1 0% - - - NULL LCA5 167691 genome.wustl.edu 37 6 80222980 80222980 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001122769.2 -1 reviewed p.K223N 1.000 322 0% 403 40.9% 0 - probably_damaging(0.999) tolerated(0.09) deleterious(0.787) NULL TTK 7272 genome.wustl.edu 37 6 80736183 80736183 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003318.4 +1 reviewed p.S449Y 0.885 206 0% 234 16.2% 2 50% benign(0.003) tolerated(1) - NULL DOPEY1 23033 genome.wustl.edu 37 6 83847603 83847603 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015018.2 +1 validated p.S1281L 0.992 88 0% 86 41.9% 0 - benign(0.069) deleterious(0.02) neutral(0.388) NULL DOPEY1 23033 genome.wustl.edu 37 6 83866985 83866985 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015018.2 +1 validated p.R2230I 1.000 268 0% 372 41.1% 6 16.6% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL DOPEY1 23033 genome.wustl.edu 37 6 83872589 83872589 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015018.2 +1 validated p.F2348C 1.000 301 0% 357 49.3% 9 66.6% probably_damaging(1) tolerated(0.24) deleterious(0.537) NULL DOPEY1 23033 genome.wustl.edu 37 6 83872624 83872624 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015018.2 +1 validated p.R2360W 1.000 268 0% 345 17.1% 8 25% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL ME1 4199 genome.wustl.edu 37 6 83921787 83921787 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002395.4 -1 reviewed p.K525N 1.000 280 0% 316 42.7% 1 0% benign(0) tolerated(0.26) neutral(0.034) superfamily_NAD(P)-bd ME1 4199 genome.wustl.edu 37 6 84117621 84117621 + Splice_Site SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002395.4 -1 reviewed e2-1 1.000 138 0% 168 47.6% 0 - - - - - SNAP91 9892 genome.wustl.edu 37 6 84371287 84371287 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014841.2 -1 validated p.R129I 1.000 185 0.5% 202 13.9% 0 - benign(0.276) deleterious(0.04) neutral(0.378) superfamily_ENTH/VHS domain,HMMPfam_ANTH,HMMSmart_SM00273 CYB5R4 51167 genome.wustl.edu 37 6 84646049 84646049 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016230.3 +1 validated p.I354 0.997 173 0% 175 44% 0 - - - - HMMPfam_FAD_binding_6,superfamily_Riboflavin_synthase_like_b-brl MRAP2 112609 genome.wustl.edu 37 6 84765113 84765113 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_138409.2 +1 validated p.E26* 1.000 171 0% 219 22.8% 0 - - - - NULL SNX14 57231 genome.wustl.edu 37 6 86275106 86275106 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_153816.3 -1 reviewed p.E165* 1.000 182 0% 225 42.2% 2 0% - - - HMMPfam_PXA,HMMSmart_SM00313 HTR1E 3354 genome.wustl.edu 37 6 87725129 87725129 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000865.2 +1 validated p.C26Y 0.377 101 0% 111 45.9% 0 - benign(0) deleterious(0.02) neutral(0.383) superfamily_SSF81321 ZNF292 23036 genome.wustl.edu 37 6 87964844 87964844 + Silent SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015021.1 +1 validated p.G499 0.575 376 0% 346 43.4% 3 0% - - - NULL ZNF292 23036 genome.wustl.edu 37 6 87967866 87967866 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015021.1 +1 validated p.E1507K 0.980 74 0% 69 40.6% 17 35.2% benign(0.056) deleterious(0) neutral(0.448) NULL ZNF292 23036 genome.wustl.edu 37 6 87969514 87969514 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015021.1 +1 validated p.S2056Y 1.000 123 0% 166 44% 2 100% possibly_damaging(0.716) tolerated(0.05) deleterious(0.605) NULL ZNF292 23036 genome.wustl.edu 37 6 87971059 87971059 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015021.1 +1 validated p.I2571S 1.000 35 0% 54 48.1% 6 83.3% possibly_damaging(0.444) deleterious(0) deleterious(0.590) NULL SLC35A1 10559 genome.wustl.edu 37 6 88218249 88218249 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006416.4 +1 reviewed p.D229A 1.000 279 0% 404 37.1% 5 40% probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_Nuc_sug_transp SLC35A1 10559 genome.wustl.edu 37 6 88218809 88218809 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006416.4 +1 reviewed p.D268N 1.000 200 0% 307 13.7% 46 10.8% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Nuc_sug_transp RARS2 57038 genome.wustl.edu 37 6 88251649 88251649 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020320.3 -1 reviewed p.Q200R 1.000 178 0% 215 34.9% 9 33.3% probably_damaging(0.989) deleterious(0.02) deleterious(0.823) HMMPfam_tRNA-synt_1d,superfamily_Nucleotidylyl transferase SPACA1 81833 genome.wustl.edu 37 6 88757753 88757753 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_030960.2 +1 reviewed p.E44K 0.906 13 0% 17 47.1% 0 - possibly_damaging(0.78) deleterious(0) deleterious(0.736) NULL SPACA1 81833 genome.wustl.edu 37 6 88767344 88767344 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_030960.2 +1 reviewed p.E94K 1.000 315 0% 368 41% 0 - probably_damaging(0.979) deleterious(0) deleterious(0.867) NULL RNGTT 8732 genome.wustl.edu 37 6 89563347 89563347 + Splice_Site SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003800.3 -1 validated e9+1 1.000 131 0% 175 44% 0 - - - - - PM20D2 135293 genome.wustl.edu 37 6 89859027 89859027 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001010853.1 +1 validated p.K170T 1.000 338 0.3% 391 43% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Peptidase_M20,superfamily_Zn-dependent exopeptidases PM20D2 135293 genome.wustl.edu 37 6 89868140 89868140 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001010853.1 +1 validated p.E337* 0.998 233 0% 305 39% 1 0% - - - superfamily_Zn-dependent exopeptidases GABRR1 2569 genome.wustl.edu 37 6 89888502 89888502 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002042.3 -1 reviewed p.S476Y 1.000 146 0% 206 46.1% 0 - possibly_damaging(0.908) tolerated(0.15) deleterious(0.603) superfamily_Neurotransmitter-gated ion-channel transmembrane pore RRAGD 58528 genome.wustl.edu 37 6 90087487 90087487 + Missense_Mutation SNP T T A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_021244.4 -1 validated p.I269F 1.000 174 0% 209 40.2% 0 - probably_damaging(0.989) deleterious(0) deleterious(0.884) HMMPfam_Gtr1_RagA ANKRD6 22881 genome.wustl.edu 37 6 90340305 90340305 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014942.3 +1 validated p.R584I 0.787 41 0% 42 31% 12 75% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL MDN1 23195 genome.wustl.edu 37 6 90359850 90359850 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014611.1 -1 provisional p.R5367W 1.000 218 0% 260 48.1% 34 35.2% unknown(0) deleterious(0) - NULL MDN1 23195 genome.wustl.edu 37 6 90448152 90448152 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014611.1 -1 provisional p.R1539Q 1.000 130 0% 193 39.9% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00382,HMMPfam_AAA_5,superfamily_P-loop containing nucleoside triphosphate hydrolases GJA10 84694 genome.wustl.edu 37 6 90604379 90604379 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032602.1 +1 validated p.I64 1.000 247 0% 300 37.3% 0 - - - - HMMPfam_Connexin,HMMSmart_CNX,PatternScan_CONNEXINS_1 GJA10 84694 genome.wustl.edu 37 6 90604499 90604499 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032602.1 +1 validated p.E104D 1.000 212 0% 245 44.1% 0 - probably_damaging(0.997) deleterious(0.03) deleterious(0.831) HMMPfam_Connexin GPR63 81491 genome.wustl.edu 37 6 97246855 97246855 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001143957.1 -1 validated p.F251L 1.000 55 0% 62 22.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like FBXL4 26235 genome.wustl.edu 37 6 99374572 99374572 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_012160.3 -1 reviewed p.R98Q 1.000 120 0% 155 35.5% 9 44.4% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL PNISR 25957 genome.wustl.edu 37 6 99848733 99848733 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015491.1 -1 validated p.D701Y 1.000 426 0.5% 475 37.7% 13 46.1% possibly_damaging(0.882) deleterious(0.03) deleterious(0.709) NULL USP45 85015 genome.wustl.edu 37 6 99956569 99956569 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001080481.1 -1 provisional p.E64K 1.000 202 0% 256 37.5% 0 - probably_damaging(0.976) deleterious(0.04) deleterious(0.767) HMMPfam_zf-UBP CCNC 892 genome.wustl.edu 37 6 99993053 99993053 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005190.3 -1 reviewed p.F244 1.000 580 0% 629 18.3% 12 8.3% - - - superfamily_Cyclin-like CCNC 892 genome.wustl.edu 37 6 99997420 99997420 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005190.3 -1 reviewed p.L188I 1.000 176 0% 217 40.1% 106 37.7% benign(0.076) tolerated(0.16) neutral(0.065) HMMSmart_SM00385,superfamily_Cyclin-like PRDM13 59336 genome.wustl.edu 37 6 100054978 100054978 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_021620.3 +1 validated p.R23H 1.000 12 0% 28 46.4% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SET PRDM13 59336 genome.wustl.edu 37 6 100062413 100062413 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_021620.3 +1 validated p.F634L 1.000 8 0.000 15 0.400 0 - possibly_damaging(0.888) tolerated(0.15) deleterious(0.589) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 SIM1 6492 genome.wustl.edu 37 6 100911292 100911292 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005068.2 -1 reviewed p.S18N 1.000 438 0% 473 41.6% 0 - possibly_damaging(0.894) tolerated(0.09) deleterious(0.648) HMMPfam_HLH,HMMSmart_HLH ASCC3 10973 genome.wustl.edu 37 6 101248282 101248282 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006828.2 -1 validated p.R341* 1.000 516 0% 685 21.8% 0 - - - - NULL HACE1 57531 genome.wustl.edu 37 6 105232049 105232049 + Splice_Site SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020771.3 -1 validated e14-1 1.000 85 0% 87 35.6% 0 - - - - - POPDC3 64208 genome.wustl.edu 37 6 105606601 105606601 + Missense_Mutation SNP C C G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_022361.4 -1 reviewed p.C207S 1.000 108 0% 136 30.1% 0 - benign(0.294) tolerated(0.22) neutral(0.133) HMMPfam_Popeye,superfamily_cAMP-binding domain-like ATG5 9474 genome.wustl.edu 37 6 106727697 106727697 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004849.2 -1 validated p.S106I 1.000 142 0% 161 41% 17 52.9% benign(0.347) deleterious(0.01) deleterious(0.516) HMMPfam_APG5 AIM1 202 genome.wustl.edu 37 6 106967350 106967350 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001624.2 +1 validated p.S348L 0.000 107 0% 172 43.6% 1 0% benign(0.006) deleterious(0) neutral(0.445) NULL AIM1 202 genome.wustl.edu 37 6 106967862 106967862 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001624.2 +1 validated p.E519* 0.000 42 0% 53 34% 1 0% - - - NULL AIM1 202 genome.wustl.edu 37 6 107003762 107003762 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001624.2 +1 validated p.F1494C 0.837 407 0% 576 44.3% 0 - possibly_damaging(0.794) tolerated(0.19) neutral(0.347) HMMPfam_Crystall,HMMSmart_XTALbg,superfamily_G_crystallin_SF C6orf203 51250 genome.wustl.edu 37 6 107361339 107361339 + Silent SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001142470.1 +1 validated p.D130 1.000 247 0% 343 39.9% 5 60% - - - NULL NR2E1 7101 genome.wustl.edu 37 6 108502102 108502102 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003269.3 +1 validated p.Q277H 0.998 134 0% 154 44.8% 0 - probably_damaging(0.996) tolerated(0.13) deleterious(0.714) HMMPfam_Hormone_recep,HMMSmart_SM00430,superfamily_Nuclear receptor ligand-binding domain LACE1 246269 genome.wustl.edu 37 6 108645173 108645173 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_145315.3 +1 reviewed p.R95I 1.000 139 0% 174 46.6% 0 - benign(0.361) deleterious(0.04) neutral(0.463) superfamily_SSF52540 MICAL1 64780 genome.wustl.edu 37 6 109773593 109773593 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_022765.3 -1 validated p.R230* 0.017 89 0% 139 43.2% 7 14.2% - - - superfamily_FAD/NAD(P)-binding domain AKD1 221264 genome.wustl.edu 37 6 109980458 109980458 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001145128.2 -1 provisional p.E201D 0.997 422 0% 555 26.3% 3 66.6% probably_damaging(0.984) tolerated(0.34) neutral(0.454) HMMPfam_ADK,superfamily_P-loop containing nucleoside triphosphate hydrolases WASF1 8936 genome.wustl.edu 37 6 110434532 110434532 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001024934.1 -1 reviewed p.E89* 1.000 164 0% 207 39.6% 6 66.6% - - - NULL METTL24 728464 genome.wustl.edu 37 6 110567159 110567159 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001123364.1 -1 inferred p.R364I 0.926 227 0% 323 43.3% 28 25% possibly_damaging(0.906) deleterious(0.01) deleterious(0.765) NULL CDK19 23097 genome.wustl.edu 37 6 110935857 110935857 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015076.3 -1 reviewed p.R464C 1.000 156 0% 231 47.2% 16 43.7% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL REV3L 5980 genome.wustl.edu 37 6 111694781 111694781 + Nonsense_Mutation SNP C C A rs138761049 TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002912.3 -1 validated p.E1593* 1.000 237 0% 224 50.4% 3 0% - - - superfamily_Ribonuclease H-like REV3L 5980 genome.wustl.edu 37 6 111696388 111696388 + Missense_Mutation SNP T T A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002912.3 -1 validated p.K1057I 1.000 388 0% 478 14.6% 0 - possibly_damaging(0.901) deleterious(0) deleterious(0.801) superfamily_Ribonuclease H-like REV3L 5980 genome.wustl.edu 37 6 111696995 111696995 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002912.3 -1 validated p.D855Y 1.000 151 0% 153 22.2% 0 - benign(0.001) deleterious(0) neutral(0.445) superfamily_Ribonuclease H-like FYN 2534 genome.wustl.edu 37 6 112020771 112020771 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_153047.1 -1 reviewed p.S267L 0.924 238 0% 311 39.9% 1 0% probably_damaging(0.99) deleterious(0) deleterious(0.886) superfamily_Kinase_like,superfamily_SSF55550 WISP3 8838 genome.wustl.edu 37 6 112390774 112390774 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_198239.1 +1 reviewed p.R357I 1.000 148 0% 161 36.6% 0 - possibly_damaging(0.509) tolerated(0.38) neutral(0.188) HMMSmart_SM00041,HMMPfam_Cys_knot RFPL4B 442247 genome.wustl.edu 37 6 112671427 112671427 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001013734.2 +1 validated p.D173N 0.000 89 0% 82 35.4% 0 - benign(0.305) tolerated(0.57) neutral(0.101) HMMPfam_SPRY HDAC2 3066 genome.wustl.edu 37 6 114264668 114264668 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001527.3 -1 reviewed p.R503* 1.000 198 0% 307 43.6% 36 11.1% - - - NULL RWDD1 51389 genome.wustl.edu 37 6 116910017 116910017 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015952.2 +1 validated p.L95I 1.000 215 0% 273 17.9% 7 14.2% benign(0.041) tolerated(0.28) neutral(0.034) HMMPfam_RWD,HMMSmart_SM00591,superfamily_UBC-like ZUFSP 221302 genome.wustl.edu 37 6 116980078 116980078 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_145062.2 -1 validated p.R227I 0.992 305 0% 347 42.4% 5 20% benign(0.055) tolerated(0.53) neutral(0.011) NULL KPNA5 3841 genome.wustl.edu 37 6 117019939 117019939 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002269.2 +1 reviewed p.R138I 1.000 89 0% 107 37.4% 0 - possibly_damaging(0.482) deleterious(0.01) deleterious(0.566) HMMPfam_Arm,HMMSmart_SM00185,superfamily_ARM repeat RFX6 222546 genome.wustl.edu 37 6 117245873 117245873 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_173560.2 +1 validated p.L533I 1.000 394 0.3% 475 47.8% 0 - probably_damaging(1) tolerated(0.08) deleterious(0.800) NULL ROS1 6098 genome.wustl.edu 37 6 117647426 117647426 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002944.2 -1 reviewed p.E1840* 1.000 215 0% 310 39% 0 - - - - superfamily_FN_III-like ROS1 6098 genome.wustl.edu 37 6 117708133 117708133 + Missense_Mutation SNP T T G rs78135931 TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002944.2 -1 reviewed p.K682Q 1.000 228 0% 245 47.3% 0 - probably_damaging(0.959) tolerated(0.42) neutral(0.417) superfamily_SSF63825 ROS1 6098 genome.wustl.edu 37 6 117718123 117718123 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002944.2 -1 reviewed p.R245I 1.000 296 0% 390 40.3% 0 - possibly_damaging(0.66) tolerated(0.1) deleterious(0.519) HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like SLC35F1 222553 genome.wustl.edu 37 6 118556792 118556792 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001029858.3 +1 validated p.S157I 1.000 204 0% 258 15.9% 0 - possibly_damaging(0.937) deleterious(0) deleterious(0.828) HMMPfam_DUF914 CEP85L 387119 genome.wustl.edu 37 6 118804939 118804939 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001042475.2 -1 validated p.R507I 1.000 722 0% 796 44% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL PLN 5350 genome.wustl.edu 37 6 118880157 118880157 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002667.3 +1 reviewed p.R25C 1.000 262 0% 388 44.1% 0 - possibly_damaging(0.693) deleterious(0) deleterious(0.693) HMMPfam_Phospholamban MCM9 254394 genome.wustl.edu 37 6 119238766 119238766 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_153255.3 -1 reviewed p.F288 1.000 196 0% 234 41.5% 3 0% - - - HMMPfam_MCM,HMMSmart_MCM MAN1A1 4121 genome.wustl.edu 37 6 119669881 119669881 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005907.2 -1 reviewed p.L117P 0.794 23 0% 30 53.3% 0 - benign(0.104) tolerated(0.31) neutral(0.035) NULL C6orf170 221322 genome.wustl.edu 37 6 121434286 121434286 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152730.4 -1 validated p.E1031* 1.000 237 0% 303 41.3% 0 - - - - NULL FABP7 2173 genome.wustl.edu 37 6 123101508 123101508 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001446.3 +1 reviewed p.K49R 1.000 173 0% 252 37.3% 0 - benign(0.08) tolerated(0.16) neutral(0.065) HMMPfam_Lipocalin,superfamily_Lipocalins TRDN 10345 genome.wustl.edu 37 6 123592329 123592329 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006073.2 -1 validated p.E559* 1.000 279 0% 417 41.5% 0 - - - - NULL RNF146 81847 genome.wustl.edu 37 6 127608617 127608617 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_030963.2 +1 provisional p.E286K 1.000 206 0% 330 15.2% 42 19% possibly_damaging(0.892) deleterious(0.02) deleterious(0.734) NULL ECHDC1 55862 genome.wustl.edu 37 6 127651971 127651971 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001139510.1 -1 validated p.R74I 1.000 108 0% 141 44% 30 46.6% benign(0.001) tolerated(0.11) neutral(0.272) HMMPfam_ECH,superfamily_ClpP/crotonase KIAA0408 9729 genome.wustl.edu 37 6 127768383 127768383 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014702.4 -1 validated p.W361R 0.119 224 0% 373 16.9% 0 - possibly_damaging(0.922) deleterious(0) deleterious(0.816) NULL KIAA0408 9729 genome.wustl.edu 37 6 127768692 127768692 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014702.4 -1 validated p.D258N 0.000 201 0% 194 43.3% 0 - possibly_damaging(0.81) tolerated(0.52) neutral(0.314) NULL KIAA0408 9729 genome.wustl.edu 37 6 127771348 127771348 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014702.4 -1 validated p.T95 0.006 385 0% 509 45.6% 0 - - - - NULL THEMIS 387357 genome.wustl.edu 37 6 128134972 128134972 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001010923.2 -1 reviewed p.D272Y 1.000 191 0% 232 25% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL THEMIS 387357 genome.wustl.edu 37 6 128135074 128135074 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001010923.2 -1 reviewed p.R238* 0.300 97 0% 104 46.2% 0 - - - - NULL LAMA2 3908 genome.wustl.edu 37 6 129618885 129618885 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000426.3 +1 reviewed p.S971Y 1.000 135 0% 203 42.9% 4 0% possibly_damaging(0.885) tolerated(0.28) neutral(0.377) HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,superfamily_ConA_like_lec_gl,superfamily_SSF57196 ARHGAP18 93663 genome.wustl.edu 37 6 130031180 130031180 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_033515.2 -1 validated p.E34D 0.997 147 0% 156 29.5% 6 33.3% possibly_damaging(0.476) tolerated(0.59) neutral(0.162) NULL AKAP7 9465 genome.wustl.edu 37 6 131540861 131540861 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016377.2 +1 reviewed p.E233* 1.000 234 0% 254 12.6% 1 0% - - - superfamily_LigT-like,HMMPfam_AKAP7_NLS MED23 9439 genome.wustl.edu 37 6 131943113 131943113 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004830.2 -1 reviewed p.R135* 1.000 82 0% 88 37.5% 2 0% - - - NULL ENPP1 5167 genome.wustl.edu 37 6 132186068 132186068 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006208.2 +1 reviewed p.V385G 1.000 168 0% 224 43.8% 0 - probably_damaging(0.992) tolerated(0.34) deleterious(0.471) HMMPfam_Phosphodiest,superfamily_Alkaline_phosphatase_core VNN2 8875 genome.wustl.edu 37 6 133073750 133073750 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004665.2 -1 reviewed p.D226Y 0.191 155 0.6% 206 42.7% 1 0% probably_damaging(0.976) deleterious(0.01) deleterious(0.824) superfamily_Ntlse/CNhydtse LOC285735 285735 genome.wustl.edu 37 6 133427512 133427512 + RNA SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NR_026969.1 +1 predicted NULL 0.003 19 0% 30 43.3% 0 - - - - - EYA4 2070 genome.wustl.edu 37 6 133782312 133782312 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004100.4 +1 reviewed p.P144H 1.000 271 0% 341 47.2% 0 - probably_damaging(0.993) deleterious(0.01) deleterious(0.856) NULL ALDH8A1 64577 genome.wustl.edu 37 6 135260455 135260455 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_022568.2 -1 reviewed p.E181* 1.000 115 0% 184 42.9% 0 - - - - HMMPfam_Aldedh,superfamily_ALDH-like MYB 4602 genome.wustl.edu 37 6 135524361 135524361 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001130173.1 +1 reviewed p.L690I 1.000 214 0% 266 40.6% 7 42.8% unknown(0) deleterious(0.03) - HMMPfam_Cmyb_C AHI1 54806 genome.wustl.edu 37 6 135776878 135776878 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001134830.1 -1 reviewed p.F446L 1.000 88 0% 111 36.9% 1 100% possibly_damaging(0.921) tolerated(0.76) neutral(0.372) superfamily_WD40 repeat-like PDE7B 27115 genome.wustl.edu 37 6 136268611 136268611 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018945.3 +1 reviewed p.E11K 1.000 317 0% 392 25% 0 - possibly_damaging(0.829) tolerated(0.07) deleterious(0.633) NULL FAM54A 113115 genome.wustl.edu 37 6 136562720 136562720 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001099286.1 -1 validated p.E126* 0.002 369 0% 378 47.1% 0 - - - - HMMPfam_DUF729 MAP7 9053 genome.wustl.edu 37 6 136742865 136742865 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003980.3 -1 reviewed p.N47S 0.054 496 0% 635 17.8% 16 43.7% unknown(0) tolerated(0.14) - NULL MAP3K5 4217 genome.wustl.edu 37 6 136913591 136913591 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005923.3 -1 reviewed p.R1014W 0.960 190 0% 178 46.1% 1 100% probably_damaging(0.997) deleterious(0.03) deleterious(0.831) NULL IL20RA 53832 genome.wustl.edu 37 6 137323265 137323265 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014432.2 -1 reviewed p.S364 0.000 43 0% 81 53.1% 23 65.2% - - - NULL IL20RA 53832 genome.wustl.edu 37 6 137323457 137323457 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014432.2 -1 reviewed p.F300L 0.999 53 0% 53 47.2% 7 57.1% benign(0.001) tolerated(0.18) neutral(0.056) NULL IFNGR1 3459 genome.wustl.edu 37 6 137519306 137519306 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000416.2 -1 reviewed p.E444D 0.001 532 0% 705 21.8% 13 23% benign(0.001) tolerated(0.66) neutral(0.003) HMMPfam_IFNGR1 ECT2L 345930 genome.wustl.edu 37 6 139134419 139134419 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001077706.1 +1 validated p.S3N 1.000 89 0% 118 41.5% 0 - benign(0.184) tolerated(0.09) neutral(0.314) NULL TXLNB 167838 genome.wustl.edu 37 6 139581468 139581468 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_153235.3 -1 validated p.R330L 0.733 326 0% 367 12.3% 0 - possibly_damaging(0.874) tolerated(0.06) deleterious(0.662) HMMPfam_Taxilin VTA1 51534 genome.wustl.edu 37 6 142468515 142468515 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016485.3 +1 provisional p.D31Y 1.000 91 0% 116 22.4% 29 31% possibly_damaging(0.937) deleterious(0) deleterious(0.828) HMMPfam_DUF605 GPR126 57211 genome.wustl.edu 37 6 142723859 142723859 + Missense_Mutation SNP T T A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_198569.2 +1 reviewed p.I616N 1.000 193 0% 267 44.6% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL HIVEP2 3097 genome.wustl.edu 37 6 143082692 143082692 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006734.3 -1 provisional p.T1843 0.985 97 0% 140 47.1% 6 66.6% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 HIVEP2 3097 genome.wustl.edu 37 6 143090970 143090970 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006734.3 -1 provisional p.L1636I 1.000 68 0% 85 51.8% 8 37.5% probably_damaging(0.998) deleterious(0.03) deleterious(0.839) NULL HIVEP2 3097 genome.wustl.edu 37 6 143091920 143091920 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006734.3 -1 provisional p.A1319V 0.940 68 0% 98 14.3% 6 0% benign(0.001) tolerated(0.26) neutral(0.034) NULL FUCA2 2519 genome.wustl.edu 37 6 143828439 143828439 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032020.3 -1 validated p.Q116R 0.188 190 0% 250 12.4% 6 16.6% benign(0.009) tolerated(0.32) neutral(0.025) HMMPfam_Alpha_L_fucos,HMMSmart_Alpha_L_fucos,superfamily_Glyco_hydro_cat PHACTR2 9749 genome.wustl.edu 37 6 144093492 144093492 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001100164.1 +1 validated p.E444* 0.847 151 0% 196 39.8% 9 55.5% - - - NULL PLAGL1 5325 genome.wustl.edu 37 6 144263090 144263090 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001080951.1 -1 reviewed p.S288L 0.000 196 0% 254 47.2% 5 0% benign(0.012) tolerated(0.07) neutral(0.320) NULL UTRN 7402 genome.wustl.edu 37 6 144783844 144783844 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_007124.2 +1 reviewed p.E970* 1.000 160 0.6% 192 41.1% 0 - - - - HMMSmart_SPEC,superfamily_Spectrin UTRN 7402 genome.wustl.edu 37 6 144844318 144844318 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_007124.2 +1 reviewed p.R1967Q 0.942 197 0% 217 39.6% 8 50% probably_damaging(1) tolerated(0.13) deleterious(0.752) superfamily_Spectrin UTRN 7402 genome.wustl.edu 37 6 145110329 145110329 + Splice_Site SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_007124.2 +1 reviewed e61-1 1.000 329 0% 390 17.7% 0 - - - - - GRM1 2911 genome.wustl.edu 37 6 146350772 146350772 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000838.3 +1 reviewed p.R40I 1.000 53 0% 123 46.3% 0 - benign(0.406) tolerated(0.31) neutral(0.158) superfamily_SSF53822 GRM1 2911 genome.wustl.edu 37 6 146480673 146480673 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000838.3 +1 reviewed p.R297Q 1.000 81 0% 112 42% 0 - probably_damaging(0.956) deleterious(0) deleterious(0.844) HMMPfam_ANF_receptor,superfamily_SSF53822 GRM1 2911 genome.wustl.edu 37 6 146673441 146673441 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000838.3 +1 reviewed p.I414 1.000 106 0% 170 47.1% 0 - - - - HMMPfam_ANF_receptor,superfamily_SSF53822 GRM1 2911 genome.wustl.edu 37 6 146755010 146755010 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000838.3 +1 reviewed p.S888Y 1.000 38 0% 64 26.6% 0 - benign(0.187) deleterious(0.02) neutral(0.401) NULL STXBP5 134957 genome.wustl.edu 37 6 147685147 147685147 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001127715.1 +1 reviewed p.L976V 0.969 172 0% 228 43.4% 23 39.1% probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL SASH1 23328 genome.wustl.edu 37 6 148792605 148792605 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015278.3 +1 validated p.K160N 1.000 113 0% 114 37.7% 3 66.6% possibly_damaging(0.917) deleterious(0) deleterious(0.812) NULL SASH1 23328 genome.wustl.edu 37 6 148855026 148855026 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015278.3 +1 validated p.E618D 1.000 36 0% 56 32.1% 3 66.6% probably_damaging(0.969) deleterious(0.01) deleterious(0.817) superfamily_SH3-domain TAB2 23118 genome.wustl.edu 37 6 149700064 149700064 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015093.4 +1 reviewed p.S338Y 1.000 159 0% 176 47.7% 13 30.7% probably_damaging(0.961) deleterious(0.01) deleterious(0.810) NULL PPIL4 85313 genome.wustl.edu 37 6 149826701 149826701 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_139126.2 -1 reviewed p.S456I 0.326 677 0% 772 42% 6 16.6% unknown(0) - - superfamily_RNA-binding domain RBD KATNA1 11104 genome.wustl.edu 37 6 149922848 149922848 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_007044.2 -1 reviewed p.L257P 0.998 152 0% 152 43.4% 15 40% probably_damaging(0.983) deleterious(0) deleterious(0.873) HMMSmart_SM00382,HMMPfam_AAA,superfamily_P-loop containing nucleoside triphosphate hydrolases RAET1G 353091 genome.wustl.edu 37 6 150238093 150238093 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001001788.2 -1 provisional p.N320 0.003 56 0% 41 39% 1 0% - - - NULL MTHFD1L 25902 genome.wustl.edu 37 6 151266647 151266647 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015440.3 +1 validated p.E531D 0.245 416 0% 435 10.8% 0 - benign(0.025) tolerated(0.06) neutral(0.324) HMMPfam_FTHFS,superfamily_P-loop containing nucleoside triphosphate hydrolases AKAP12 9590 genome.wustl.edu 37 6 151670334 151670334 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005100.3 +1 reviewed p.E270* 0.067 76 0% 73 23.3% 3 0% - - - NULL AKAP12 9590 genome.wustl.edu 37 6 151670701 151670701 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005100.3 +1 reviewed p.S392Y 0.189 43 0% 66 31.8% 3 100% possibly_damaging(0.745) deleterious(0.03) deleterious(0.638) NULL C6orf97 80129 genome.wustl.edu 37 6 151859208 151859208 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_025059.3 +1 validated p.S72Y 1.000 70 0% 60 48.3% 0 - probably_damaging(1) tolerated(0.08) deleterious(0.800) NULL ESR1 2099 genome.wustl.edu 37 6 152419977 152419977 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000125.3 +1 reviewed p.R555H 0.000 92 0% 102 47.1% 460 48.6% benign(0.001) tolerated(0.06) neutral(0.323) NULL SYNE1 23345 genome.wustl.edu 37 6 152551809 152551809 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_182961.2 -1 reviewed p.S7023F 1.000 220 0% 247 39.7% 1 0% possibly_damaging(0.952) tolerated(0.3) neutral(0.424) HMMPfam_Spectrin,superfamily_Spectrin repeat SYNE1 23345 genome.wustl.edu 37 6 152552694 152552694 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_182961.2 -1 reviewed p.K6957N 1.000 164 0% 197 38.6% 1 0% benign(0.185) deleterious(0.03) neutral(0.382) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat SYNE1 23345 genome.wustl.edu 37 6 152642451 152642451 + Silent SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_182961.2 -1 reviewed p.L5386 1.000 295 0% 370 45.4% 0 - - - - NULL SYNE1 23345 genome.wustl.edu 37 6 152748871 152748871 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_182961.2 -1 reviewed p.S1686Y 1.000 350 0% 398 48.7% 0 - possibly_damaging(0.492) - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat SYNE1 23345 genome.wustl.edu 37 6 152809548 152809548 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_182961.2 -1 reviewed p.L344V 0.988 442 0.2% 484 44.4% 0 - probably_damaging(0.999) tolerated(0.52) deleterious(0.499) NULL SCAF8 22828 genome.wustl.edu 37 6 155141454 155141454 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014892.3 +1 validated p.E593D 1.000 166 0.6% 208 49.5% 12 16.6% benign(0.337) tolerated(0.22) neutral(0.148) NULL SCAF8 22828 genome.wustl.edu 37 6 155153958 155153958 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014892.3 +1 validated p.R1082I 1.000 64 0% 83 37.3% 12 33.3% probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL ARID1B 57492 genome.wustl.edu 37 6 157517326 157517326 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017519.2 +1 validated p.T1279M 0.995 91 0% 107 43.9% 44 36.3% probably_damaging(0.999) - - NULL TMEM242 729515 genome.wustl.edu 37 6 157714019 157714019 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018452.4 -1 validated p.R114* 1.000 332 0% 399 40.6% 19 42.1% - - - HMMPfam_DUF1358 SYNJ2 8871 genome.wustl.edu 37 6 158480335 158480335 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003898.3 +1 reviewed p.N302H 1.000 29 0% 51 43.1% 8 75% possibly_damaging(0.922) deleterious(0) deleterious(0.816) HMMPfam_Syja_N SYTL3 94120 genome.wustl.edu 37 6 159185627 159185627 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001009991.2 +1 validated p.V540 0.987 67 0% 93 45.2% 30 43.3% unknown(0) - - NULL TAGAP 117289 genome.wustl.edu 37 6 159459250 159459250 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_054114.3 -1 reviewed p.L265P 0.000 163 0% 166 46.4% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMSmart_SM00324,superfamily_GTPase activation domain GAP FNDC1 84624 genome.wustl.edu 37 6 159644677 159644677 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032532.2 +1 validated p.R295I 1.000 421 0.2% 563 45.5% 4 0% unknown(0) deleterious(0) - HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like SOD2 6648 genome.wustl.edu 37 6 160113601 160113601 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000452684 -1 known p.E127 0.000 28 0% 40 40% 0 - - - - NULL WTAP 9589 genome.wustl.edu 37 6 160169304 160169304 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004906.3 +1 reviewed p.L119V 1.000 221 0% 288 15.6% 32 15.6% benign(0.009) tolerated(0.32) neutral(0.025) NULL TCP1 6950 genome.wustl.edu 37 6 160200171 160200171 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_030752.2 -1 reviewed p.R526Q 1.000 183 0% 223 48.4% 93 41.9% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cpn60_TCP1,superfamily_GroEL-ATPase TCP1 6950 genome.wustl.edu 37 6 160201095 160201095 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_030752.2 -1 reviewed p.S374 0.997 106 0% 125 37.6% 128 44.5% - - - HMMPfam_Cpn60_TCP1,superfamily_GroEL-ATPase,superfamily_SSF52029,superfamily_SSF54849 TCP1 6950 genome.wustl.edu 37 6 160205087 160205087 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_030752.2 -1 reviewed p.R228I 1.000 310 0% 440 44.5% 144 57.6% benign(0.003) tolerated(0.06) neutral(0.323) HMMPfam_Cpn60_TCP1,superfamily_GroEL-ATPase,superfamily_SSF52029,superfamily_SSF54849 IGF2R 3482 genome.wustl.edu 37 6 160496999 160496999 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000876.2 +1 reviewed p.A1763T 0.047 159 0% 188 51.6% 173 51.4% benign(0) tolerated(0.71) neutral(0.002) HMMPfam_CIMR,superfamily_Mannose 6-phosphate receptor domain TTLL2 83887 genome.wustl.edu 37 6 167738702 167738702 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_031949.4 +1 validated p.A14V 0.000 60 0% 98 54.1% 0 - unknown(0) - - NULL MLLT4 4301 genome.wustl.edu 37 6 168344128 168344128 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001040001.1 +1 validated p.R1063Q 0.996 377 0% 469 45% 220 53.6% benign(0.088) tolerated(0.73) neutral(0.008) HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ C6orf70 55780 genome.wustl.edu 37 6 170175417 170175417 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018341.1 +1 validated p.E457* 0.000 130 0% 145 42.1% 9 0% - - - NULL LINC00242 401288 genome.wustl.edu 37 6 170190564 170190564 + RNA SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NR_026781.1 -1 validated NULL 0.000 126 0% 177 20.9% 0 - - - - - FAM120B 84498 genome.wustl.edu 37 6 170704611 170704611 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032448.1 +1 provisional p.T879M 0.003 70 0% 111 37.8% 51 47% probably_damaging(0.998) tolerated(0.06) deleterious(0.797) NULL TBP 6908 genome.wustl.edu 37 6 170876051 170876051 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003194.4 +1 reviewed p.A211T 0.998 183 0% 231 49.4% 14 28.5% unknown(0) deleterious(0.01) - HMMPfam_TBP,PatternScan_TFIID,superfamily_TFIID_C/glycos_N PDCD2 5134 genome.wustl.edu 37 6 170887961 170887961 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002598.2 -1 reviewed p.R287I 0.996 213 0% 300 17.3% 30 16.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PDCD2_C SUN1 23353 genome.wustl.edu 37 7 892519 892519 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000457861 +1 known p.E75* 0.000 163 0% 206 19.9% 46 8.6% possibly_damaging(0.942) tolerated(0.07) deleterious(0.706) NULL SUN1 23353 genome.wustl.edu 37 7 909009 909009 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001130965.2 +1 reviewed p.C668 1.000 119 0% 162 50.6% 66 34.8% - - - HMMPfam_Sad1_UNC CYP2W1 54905 genome.wustl.edu 37 7 1024866 1024866 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017781.2 +1 reviewed p.F184 0.872 45 0% 49 44.9% 0 - - - - HMMPfam_p450,superfamily_Cytochrome_P450 CYP2W1 54905 genome.wustl.edu 37 7 1024874 1024874 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017781.2 +1 reviewed p.R187Q 1.000 67 0% 66 48.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_p450,superfamily_Cytochrome_P450 ELFN1 392617 genome.wustl.edu 37 7 1784665 1784665 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001128636.2 +1 validated p.E145K 1.000 20 0% 18 61.1% 2 0% - - - HMMSmart_SM00369,superfamily_L domain-like BRAT1 221927 genome.wustl.edu 37 7 2580628 2580628 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000382467 -1 known p.R427W 0.141 18 0% 18 66.7% 18 44.4% - - - NULL GNA12 2768 genome.wustl.edu 37 7 2834685 2834685 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_007353.2 -1 validated p.F134 0.372 109 0% 111 42.3% 49 38.7% - - - HMMPfam_G-alpha,superfamily_Transducn_insert,superfamily_SSF52540 CARD11 84433 genome.wustl.edu 37 7 2951852 2951852 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032415.3 -1 validated p.A1033V 0.997 209 0% 255 43.9% 2 0% benign(0) tolerated(0.17) neutral(0.059) superfamily_SSF52540 CARD11 84433 genome.wustl.edu 37 7 2998266 2998266 + Splice_Site SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032415.3 -1 validated e1-1 0.088 62 0% 90 30% 0 - - - - - KIAA0415 9907 genome.wustl.edu 37 7 4823396 4823396 + Silent SNP C C T rs146665638 by1000genomes TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014855.1 +1 validated p.S196 0.090 22 0% 20 50% 11 54.5% - - - NULL PAPOLB 56903 genome.wustl.edu 37 7 4900675 4900675 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020144.4 -1 validated p.R256I 1.000 149 0% 161 37.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PAP_central,superfamily_SSF81631 PAPOLB 56903 genome.wustl.edu 37 7 4900991 4900991 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020144.4 -1 validated p.E151K 0.998 154 0% 193 49.2% 0 - probably_damaging(0.997) tolerated(0.08) deleterious(0.766) HMMPfam_NTP_transf_2,HMMPfam_PAP_central,superfamily_SSF81301 TNRC18 84629 genome.wustl.edu 37 7 5410351 5410351 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001080495.2 -1 provisional p.E1292* 0.018 7 0.000 14 0.429 42 14.2% - - - NULL TNRC18 84629 genome.wustl.edu 37 7 5434080 5434080 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001080495.2 -1 provisional p.A112T 0.843 44 0% 64 39.1% 20 75% benign(0.164) tolerated(0.2) neutral(0.064) NULL FBXL18 80028 genome.wustl.edu 37 7 5545075 5545075 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024963.4 -1 validated p.I69V 0.728 104 1% 124 40.3% 8 50% benign(0) tolerated(1) - HMMPfam_F-box,HMMSmart_FBOX,superfamily_SSF81383 RNF216 54476 genome.wustl.edu 37 7 5752360 5752360 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_207111.2 -1 reviewed p.A656 0.748 35 0% 47 31.9% 36 30.5% - - - HMMSmart_IBR,superfamily_SSF57850 USP42 84132 genome.wustl.edu 37 7 6178812 6178812 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032172.2 +1 validated p.N215H 1.000 90 0% 120 36.7% 14 21.4% possibly_damaging(0.563) tolerated(0.24) neutral(0.230) HMMPfam_UCH,superfamily_SSF54001 ZNF12 7559 genome.wustl.edu 37 7 6730837 6730837 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016265.3 -1 reviewed p.C579Y 0.965 184 0% 200 37% 7 28.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF12 7559 genome.wustl.edu 37 7 6731942 6731942 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016265.3 -1 reviewed p.R211C 0.982 131 0% 166 42.2% 0 - possibly_damaging(0.869) deleterious(0.01) deleterious(0.743) NULL CCZ1B 221960 genome.wustl.edu 37 7 6845639 6845639 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_198097.2 -1 predicted p.I328 0.987 1077 0% 1308 24.2% 53 35.8% - - - HMMPfam_DUF2049 LOC100131257 100131257 genome.wustl.edu 37 7 7118240 7118240 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_001716696.1 -1 model p.D322Y 0.037 76 0% 87 43.7% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers COL28A1 340267 genome.wustl.edu 37 7 7412972 7412972 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001037763.2 -1 validated p.F855L 0.730 127 0% 170 42.4% 8 62.5% benign(0.066) tolerated(0.43) neutral(0.018) HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like THSD7A 221981 genome.wustl.edu 37 7 11676214 11676214 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015204.2 -1 validated p.I189V 1.000 105 0% 149 14.8% 5 0% probably_damaging(0.982) tolerated(0.29) neutral(0.456) NULL VWDE 221806 genome.wustl.edu 37 7 12391310 12391310 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001135924.1 -1 provisional p.T1259A 0.008 197 0% 259 42.9% 0 - possibly_damaging(0.649) tolerated(0.57) neutral(0.234) NULL VWDE 221806 genome.wustl.edu 37 7 12414691 12414691 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001135924.1 -1 provisional p.Q396R 0.136 117 0% 156 43.6% 0 - benign(0.011) tolerated(0.48) neutral(0.011) NULL ARL4A 10124 genome.wustl.edu 37 7 12728194 12728194 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001037164.1 +1 reviewed p.V105 0.751 164 0% 225 40.4% 5 40% - - - HMMSmart_SM00173,HMMSmart_SM00175,HMMSmart_SM00178,HMMSmart_SM00177,HMMPfam_Arf,superfamily_P-loop containing nucleoside triphosphate hydrolases ETV1 2115 genome.wustl.edu 37 7 13949261 13949261 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004956.4 -1 validated p.F312 0.755 170 0% 225 40.4% 0 - - - - HMMPfam_ETS_PEA3_N DGKB 1607 genome.wustl.edu 37 7 14384953 14384953 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004080.2 -1 reviewed p.K634N 1.000 233 0% 328 46.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DAGK_acc,HMMSmart_SM00045 DGKB 1607 genome.wustl.edu 37 7 14775741 14775741 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004080.2 -1 reviewed p.L83F 1.000 143 0% 186 47.3% 0 - probably_damaging(0.994) deleterious(0) deleterious(0.897) superfamily_EF-hand AGMO 392636 genome.wustl.edu 37 7 15427115 15427115 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001004320.1 -1 provisional p.F291 1.000 161 0.6% 164 48.2% 0 - - - - NULL AHR 196 genome.wustl.edu 37 7 17379759 17379759 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001621.4 +1 validated p.S770 0.064 106 0% 141 27% 42 14.2% - - - NULL AHR 196 genome.wustl.edu 37 7 17382550 17382550 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001621.4 +1 validated p.Q803H 1.000 286 0.3% 377 47.2% 5 60% possibly_damaging(0.76) deleterious(0) deleterious(0.726) NULL TWIST1 7291 genome.wustl.edu 37 7 19156507 19156507 + Missense_Mutation SNP A A C rs79988208 TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000474.3 -1 reviewed p.I146M 1.000 98 0% 95 40% 11 18.1% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_HLH,HMMSmart_HLH,superfamily_HLH_basic TWISTNB 221830 genome.wustl.edu 37 7 19744536 19744536 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001002926.1 -1 validated p.G88S 1.000 133 0% 133 48.1% 5 80% probably_damaging(0.998) deleterious(0.02) deleterious(0.857) HMMPfam_RNA_pol_Rpb7_N MACC1 346389 genome.wustl.edu 37 7 20198624 20198624 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_182762.3 -1 validated p.E454* 1.000 179 0% 236 21.6% 0 - - - - NULL ABCB5 340273 genome.wustl.edu 37 7 20767947 20767947 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_178559.5 +1 validated p.S467 1.000 221 0% 264 42% 0 - - - - HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain ABCB5 340273 genome.wustl.edu 37 7 20792982 20792982 + Splice_Site SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_178559.5 +1 validated e15-1 1.000 99 0% 168 45.8% 0 - - - - - DNAH11 8701 genome.wustl.edu 37 7 21641127 21641127 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003777.3 +1 reviewed p.R1180I 1.000 146 0% 172 43.6% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL DNAH11 8701 genome.wustl.edu 37 7 21698460 21698460 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003777.3 +1 reviewed p.T1718 0.039 117 0% 117 40.2% 4 50% - - - HMMPfam_DHC_N2 DNAH11 8701 genome.wustl.edu 37 7 21751342 21751342 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003777.3 +1 reviewed p.A2290T 1.000 122 0% 123 46.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00382,HMMPfam_AAA_5,superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH11 8701 genome.wustl.edu 37 7 21818607 21818607 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003777.3 +1 reviewed p.Q3130R 1.000 195 0% 227 40.5% 1 100% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH11 8701 genome.wustl.edu 37 7 21827195 21827195 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003777.3 +1 reviewed p.F3313L 1.000 114 0% 178 41% 0 - possibly_damaging(0.903) deleterious(0.01) deleterious(0.764) NULL DNAH11 8701 genome.wustl.edu 37 7 21857911 21857911 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003777.3 +1 reviewed p.P3556S 1.000 261 0% 322 12.1% 1 0% probably_damaging(1) tolerated(0.09) deleterious(0.796) NULL DNAH11 8701 genome.wustl.edu 37 7 21920330 21920330 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003777.3 +1 reviewed p.E4076G 1.000 175 0% 233 13.7% 0 - probably_damaging(0.976) deleterious(0) deleterious(0.863) HMMPfam_Dynein_heavy RAPGEF5 9771 genome.wustl.edu 37 7 22348031 22348031 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_012294.3 -1 validated p.E50* 0.970 193 0% 293 11.6% 3 0% - - - "superfamily_""Winged helix"" DNA-binding domain" ENSG00000105889 0 genome.wustl.edu 37 7 22534480 22534480 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000441815 -1 known p.E146* 0.992 497 0% 498 21.1% 0 - - - - NULL IL6 3569 genome.wustl.edu 37 7 22767143 22767143 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000600.3 +1 reviewed p.E34* 0.011 121 0% 123 35.8% 0 - - - - NULL NUPL2 11097 genome.wustl.edu 37 7 23236306 23236306 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_007342.2 +1 validated p.S177Y 0.977 311 0.3% 381 44.6% 6 16.6% probably_damaging(0.982) deleterious(0.02) deleterious(0.809) NULL IGF2BP3 10643 genome.wustl.edu 37 7 23383377 23383377 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006547.2 -1 reviewed p.K346T 1.000 372 0% 483 43.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00322,superfamily_Eukaryotic type KH-domain (KH-domain type I) STK31 56164 genome.wustl.edu 37 7 23775209 23775209 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_031414.3 +1 reviewed p.I179S 1.000 150 0% 203 41.9% 0 - benign(0.002) deleterious(0.03) neutral(0.364) NULL STK31 56164 genome.wustl.edu 37 7 23811831 23811831 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_031414.3 +1 reviewed p.K633N 1.000 135 0% 150 40% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL STK31 56164 genome.wustl.edu 37 7 23826129 23826129 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_031414.3 +1 reviewed p.G759 1.000 117 0% 142 26.8% 2 50% - - - HMMSmart_SM00220 STK31 56164 genome.wustl.edu 37 7 23871808 23871808 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_031414.3 +1 reviewed p.M961I 1.000 390 0.3% 462 41.3% 0 - benign(0) tolerated(0.08) neutral(0.300) HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) MPP6 51678 genome.wustl.edu 37 7 24689294 24689294 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016447.2 +1 provisional p.E112* 1.000 243 0% 292 43.5% 2 0% - - - superfamily_PDZ domain-like NFE2L3 9603 genome.wustl.edu 37 7 26224306 26224306 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004289.6 +1 reviewed p.D330Y 0.845 181 0% 220 47.7% 5 40% benign(0.255) deleterious(0.01) neutral(0.432) NULL C7orf71 285941 genome.wustl.edu 37 7 26686086 26686086 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001145531.1 +1 predicted p.P146H 0.856 192 0% 239 41.8% 0 - probably_damaging(0.984) - - NULL HOXA6 3203 genome.wustl.edu 37 7 27185314 27185314 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024014.2 -1 reviewed p.P222H 1.000 155 0% 203 41.4% 7 28.5% possibly_damaging(0.688) tolerated(0.12) deleterious(0.506) superfamily_Homeodomain-like HOXA9 3205 genome.wustl.edu 37 7 27209135 27209135 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000354032 -1 known p.L44P 1.000 20 0% 61 32.8% 12 41.6% unknown(0) deleterious(0) - NULL TAX1BP1 8887 genome.wustl.edu 37 7 27809446 27809446 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006024.5 +1 validated p.E202G 0.863 106 0.9% 160 46.3% 28 60.7% possibly_damaging(0.897) deleterious(0.01) deleterious(0.760) HMMPfam_CALCOCO1 CREB5 9586 genome.wustl.edu 37 7 28547272 28547272 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_182898.2 +1 reviewed p.E70K 1.000 65 0% 106 11.3% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL SCRN1 9805 genome.wustl.edu 37 7 29976225 29976225 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001145514.1 -1 reviewed p.Q304H 0.997 152 0% 190 48.4% 30 60% possibly_damaging(0.944) deleterious(0.05) deleterious(0.734) NULL SCRN1 9805 genome.wustl.edu 37 7 30029821 30029821 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000427249 -1 known p.D29N 0.000 161 0.6% 246 54.1% 0 - - - - NULL GARS 2617 genome.wustl.edu 37 7 30651816 30651816 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002047.2 +1 reviewed p.S329Y 1.000 129 0% 182 43.4% 4 0% probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_tRNA-synt_2b,superfamily_Class II aaRS and biotin synthetases INMT 11185 genome.wustl.edu 37 7 30793430 30793430 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006774.4 +1 reviewed p.D80Y 0.845 96 0% 148 43.2% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_NNMT_PNMT_TEMT,superfamily_SSF53335 FAM188B 84182 genome.wustl.edu 37 7 30825416 30825416 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032222.2 +1 validated p.R157 0.082 138 0% 171 36.8% 3 33.3% - - - NULL GHRHR 2692 genome.wustl.edu 37 7 31013600 31013600 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000823.3 +1 reviewed p.V200I 0.993 64 0% 79 39.2% 0 - benign(0.005) tolerated(0.07) neutral(0.319) HMMPfam_7tm_2,superfamily_SSF81321 FKBP9 11328 genome.wustl.edu 37 7 33016021 33016021 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_007270.3 +1 validated p.G205* 1.000 538 0% 557 42.7% 46 6.5% - - - HMMPfam_FKBP_C,superfamily_SSF54534 FKBP9 11328 genome.wustl.edu 37 7 33039822 33039822 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_007270.3 +1 validated p.K441T 1.000 538 0% 621 36.4% 71 77.4% probably_damaging(0.973) deleterious(0) deleterious(0.859) HMMPfam_FKBP_C,superfamily_SSF54534 BBS9 27241 genome.wustl.edu 37 7 33376216 33376216 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_198428.2 +1 reviewed p.D394Y 1.000 88 0% 123 35.8% 3 0% benign(0.177) deleterious(0.01) neutral(0.422) NULL ANLN 54443 genome.wustl.edu 37 7 36447459 36447459 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018685.2 +1 validated p.S330 0.000 183 0% 216 46.8% 4 75% - - - NULL GPR141 353345 genome.wustl.edu 37 7 37780794 37780794 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_181791.1 +1 provisional p.E267K 1.000 398 0% 467 39.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_SSF81321 TRGV8 6982 genome.wustl.edu 37 7 38370043 38370043 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000390343 -1 known p.K85 0.047 226 0% 300 37.7% 0 - - - - HMMPfam_V-set,superfamily_SSF48726 AMPH 273 genome.wustl.edu 37 7 38534107 38534107 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001635.2 -1 reviewed p.K76Q 1.000 214 0% 280 28.2% 1 0% probably_damaging(0.996) deleterious(0.02) deleterious(0.845) HMMPfam_BAR,HMMSmart_SM00721 CDK13 8621 genome.wustl.edu 37 7 40132607 40132607 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003718.4 +1 reviewed p.S1153 0.976 150 0% 220 50% 23 34.7% - - - NULL GLI3 2737 genome.wustl.edu 37 7 42004153 42004153 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000168.5 -1 reviewed p.F1506 1.000 145 0% 188 12.2% 9 0% - - - NULL GLI3 2737 genome.wustl.edu 37 7 42262770 42262770 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000168.5 -1 reviewed p.D28A 1.000 276 0% 333 47.4% 3 0% probably_damaging(0.987) deleterious(0.01) deleterious(0.842) NULL C7orf25 79020 genome.wustl.edu 37 7 42949502 42949502 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001099858.1 -1 validated p.R391Q 0.997 144 0% 165 43.6% 7 57.1% possibly_damaging(0.756) tolerated(0.07) deleterious(0.598) HMMPfam_DUF1308 PSMA2 5683 genome.wustl.edu 37 7 42961482 42961482 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002787.4 -1 reviewed p.N169D 1.000 194 0% 249 43% 127 41.7% benign(0.01) tolerated(0.1) neutral(0.287) HMMPfam_Proteasome,superfamily_N-terminal nucleophile aminohydrolases (Ntn hydrolases) URGCP 55665 genome.wustl.edu 37 7 43916866 43916866 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001077663.1 -1 validated p.L732 0.002 34 0% 27 33.3% 15 73.3% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases UBE2D4 51619 genome.wustl.edu 37 7 43988248 43988248 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015983.2 +1 provisional p.K72N 1.000 190 0% 232 48.7% 36 47.2% benign(0.134) deleterious(0) neutral(0.456) HMMPfam_UQ_con,HMMSmart_SM00212,superfamily_UBC-like DBNL 28988 genome.wustl.edu 37 7 44098069 44098069 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001122956.1 +1 validated p.R249Q 0.001 152 0% 234 42.7% 171 35.6% benign(0.018) tolerated(0.15) neutral(0.241) NULL CAMK2B 816 genome.wustl.edu 37 7 44260222 44260222 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001220.4 -1 reviewed p.F587 0.996 63 0% 75 41.3% 2 50% - - - HMMPfam_CaMKII_AD,superfamily_SSF54427 MYO1G 64005 genome.wustl.edu 37 7 45007499 45007499 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_033054.2 -1 validated p.R545W 1.000 116 0% 119 48.7% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYO1G 64005 genome.wustl.edu 37 7 45010469 45010469 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_033054.2 -1 validated p.A346S 0.010 33 0% 54 40.7% 4 0% benign(0.004) tolerated(0.76) neutral(0.001) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases IGFBP1 3484 genome.wustl.edu 37 7 45931560 45931560 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000596.2 +1 reviewed p.V183 0.564 151 0% 153 39.9% 0 - - - - HMMPfam_Thyroglobulin_1,superfamily_Thyroglobulin type-1 domain TNS3 64759 genome.wustl.edu 37 7 47333332 47333332 + Missense_Mutation SNP G G T rs75253453 byCluster;byFrequency;by1000genomes TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_022748.10 -1 validated p.F1257L 0.008 195 0% 256 42.6% 40 32.5% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_SH2,HMMSmart_SM00252,superfamily_SH2 domain PKD1L1 168507 genome.wustl.edu 37 7 47860724 47860724 + Silent SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_138295.2 -1 reviewed p.F2305 0.000 255 0% 286 11.5% 0 - - - - NULL UPP1 7378 genome.wustl.edu 37 7 48139305 48139305 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003364.2 +1 validated p.K28R 0.001 316 0% 398 47.7% 5 60% benign(0.003) tolerated(0.6) neutral(0.004) NULL ABCA13 154664 genome.wustl.edu 37 7 48316036 48316036 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152701.3 +1 reviewed p.R2258I 0.000 23 0% 32 56.2% 0 - probably_damaging(0.979) - - NULL ABCA13 154664 genome.wustl.edu 37 7 48375098 48375098 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152701.3 +1 reviewed p.R3360I 0.048 233 0% 207 45.9% 0 - benign(0.327) - - NULL IKZF1 10320 genome.wustl.edu 37 7 50468296 50468296 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000331340 +1 known p.R511* 0.999 14 0% 26 46.2% 2 0% - - - HMMSmart_SM00355 GRB10 2887 genome.wustl.edu 37 7 50673038 50673038 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005311.4 -1 reviewed p.E446D 0.995 117 0% 173 48% 36 44.4% benign(0.012) tolerated(0.6) neutral(0.005) HMMPfam_BPS SEC61G 23480 genome.wustl.edu 37 7 54825203 54825203 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001012456.1 -1 reviewed p.K27E 1.000 250 0% 315 47.3% 123 47.1% benign(0.011) deleterious(0.01) neutral(0.406) HMMPfam_SecE,PatternScan_SECE_SEC61G,superfamily_Preprotein translocase SecE subunit LOC441228 441228 genome.wustl.edu 37 7 56358973 56358973 + RNA SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XR_016387.3 +1 model NULL 1.000 270 0% 339 39.8% 4 0% - - - - ZNF479 90827 genome.wustl.edu 37 7 57187691 57187691 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_033273.1 -1 provisional p.S477 0.000 124 0% 191 37.2% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF479 90827 genome.wustl.edu 37 7 57188759 57188759 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_033273.1 -1 provisional p.E121D 0.002 281 0% 403 38% 1 100% benign(0.008) tolerated(0.37) neutral(0.019) NULL ZNF716 441234 genome.wustl.edu 37 7 57529065 57529065 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000420713 +1 known p.E300* 0.554 77 0% 103 43.7% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF716 441234 genome.wustl.edu 37 7 57529102 57529102 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000420713 +1 known p.T312I 0.000 69 0% 106 18.9% 0 - benign(0.072) tolerated(0.27) neutral(0.038) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF716 441234 genome.wustl.edu 37 7 57529585 57529585 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_002342727.1 +1 model p.F390C 0.585 130 0% 151 46.4% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF736 728927 genome.wustl.edu 37 7 63808608 63808608 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000423484 +1 known p.C123R 0.004 295 0% 342 41.2% 0 - probably_damaging(0.96) tolerated(0.25) neutral(0.440) NULL ZNF736 728927 genome.wustl.edu 37 7 63809384 63809384 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000423484 +1 known p.F381L 0.000 66 0% 79 43% 0 - benign(0) tolerated(0.64) neutral(0.003) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers TYW1 55253 genome.wustl.edu 37 7 66563683 66563683 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018264.2 +1 validated p.A514T 1.000 250 0% 315 46% 9 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Radical_SAM,superfamily_Radical SAM enzymes CALN1 83698 genome.wustl.edu 37 7 71275350 71275350 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_031468.3 -1 validated p.S210L 1.000 231 0% 314 43.9% 0 - benign(0.094) deleterious(0) neutral(0.452) NULL NSUN5 55695 genome.wustl.edu 37 7 72718015 72718015 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_148956.2 -1 reviewed p.L318P 0.811 27 0% 53 45.3% 36 55.5% benign(0.005) tolerated(0.2) neutral(0.049) superfamily_SSF53335 WBSCR22 114049 genome.wustl.edu 37 7 73111952 73111952 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000442099 +1 known p.R100* 0.000 74 0% 128 36.7% 243 47.7% benign(0) tolerated(0.31) neutral(0.027) NULL LIMK1 3984 genome.wustl.edu 37 7 73535593 73535593 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002314.2 +1 reviewed p.E636K 0.965 33 0% 21 52.4% 33 45.4% benign(0.07) tolerated(0.15) neutral(0.246) NULL GTF2IRD2 84163 genome.wustl.edu 37 7 74212066 74212066 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_173537.2 -1 validated p.I595 0.873 184 0% 241 36.9% 10 30% - - - NULL GTF2IRD2B 389524 genome.wustl.edu 37 7 74524847 74524847 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001003795.2 +1 reviewed p.E31K 0.973 316 0% 380 26.3% 50 24% probably_damaging(0.998) deleterious(0.02) deleterious(0.857) NULL TRIM73 375593 genome.wustl.edu 37 7 75034121 75034121 + Splice_Site SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_198924.2 +1 provisional e3-1 0.997 72 0% 68 29.4% 2 0% - - - - CCDC146 57639 genome.wustl.edu 37 7 76903811 76903811 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020879.2 +1 validated p.E428K 0.736 93 0% 103 35.9% 0 - benign(0.011) tolerated(0.82) neutral(0.001) NULL PION 54103 genome.wustl.edu 37 7 76957930 76957930 + Silent SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017439.3 -1 validated p.R586 0.007 209 0% 253 43.9% 3 66.6% - - - NULL PION 54103 genome.wustl.edu 37 7 77010672 77010672 + Splice_Site SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017439.3 -1 validated e8-1 1.000 198 0.5% 247 36% 0 - - - - - MAGI2 9863 genome.wustl.edu 37 7 77973133 77973133 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_012301.3 -1 reviewed p.P457L 1.000 222 0% 310 44.2% 0 - benign(0.012) tolerated(0.48) neutral(0.011) HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like MAGI2 9863 genome.wustl.edu 37 7 77973155 77973155 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_012301.3 -1 reviewed p.L450M 1.000 256 0% 327 23.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like MAGI2 9863 genome.wustl.edu 37 7 78150918 78150918 + Missense_Mutation SNP A A T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_012301.3 -1 reviewed p.L195I 0.938 370 0% 458 41.3% 0 - benign(0.206) tolerated(0.4) neutral(0.036) HMMSmart_SM00072 PCLO 27445 genome.wustl.edu 37 7 82544697 82544697 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_033026.5 -1 validated p.K4202T 1.000 182 0% 213 14.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL PCLO 27445 genome.wustl.edu 37 7 82581432 82581432 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_033026.5 -1 validated p.K2946R 1.000 104 0% 136 41.9% 0 - possibly_damaging(0.829) - - NULL PCLO 27445 genome.wustl.edu 37 7 82595617 82595617 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_033026.5 -1 validated p.E1163* 0.984 396 0.3% 442 41% 0 - - - - NULL PCLO 27445 genome.wustl.edu 37 7 82595743 82595743 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_033026.5 -1 validated p.D1121Y 1.000 240 0% 281 44.1% 0 - probably_damaging(1) - - superfamily_FYVE/PHD zinc finger PCLO 27445 genome.wustl.edu 37 7 82785548 82785548 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_033026.5 -1 validated p.E137* 1.000 185 0% 199 47.2% 0 - - - - NULL SEMA3A 10371 genome.wustl.edu 37 7 83592584 83592584 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006080.2 -1 reviewed p.P599 0.027 249 0% 334 41.6% 1 0% - - - HMMSmart_IG,HMMPfam_ig,superfamily_SSF48726 SEMA3D 223117 genome.wustl.edu 37 7 84629153 84629153 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152754.2 -1 validated p.T646M 1.000 112 0% 152 20.4% 5 20% possibly_damaging(0.949) tolerated(0.15) deleterious(0.634) HMMSmart_IG,HMMPfam_V-set,superfamily_SSF48726 GRM3 2913 genome.wustl.edu 37 7 86416107 86416107 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000840.2 +1 reviewed p.F333 0.995 39 0% 57 45.6% 0 - - - - HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I GRM3 2913 genome.wustl.edu 37 7 86493617 86493617 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000439827 +1 known p.A507T 0.932 346 0% 503 47.7% 0 - unknown(0) - - NULL ABCB1 5243 genome.wustl.edu 37 7 87214830 87214830 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000927.3 -1 reviewed p.R95I 0.000 129 0% 180 36.7% 0 - benign(0) tolerated(0.33) neutral(0.024) HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain RUNDC3B 154661 genome.wustl.edu 37 7 87280143 87280143 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_138290.2 +1 validated p.S43Y 1.000 224 0% 300 47% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL RUNDC3B 154661 genome.wustl.edu 37 7 87399920 87399920 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_138290.2 +1 validated p.E235A 1.000 98 0% 124 41.9% 2 0% probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL SLC25A40 55972 genome.wustl.edu 37 7 87465581 87465581 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018843.2 -1 validated p.R334 0.000 109 0% 132 18.9% 3 0% - - - NULL SLC25A40 55972 genome.wustl.edu 37 7 87476353 87476353 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018843.2 -1 validated p.R181Q 0.000 133 0% 171 40.9% 5 20% benign(0.003) tolerated(0.7) neutral(0.002) superfamily_Mitochondrial carrier,HMMPfam_Mito_carr STEAP4 79689 genome.wustl.edu 37 7 87913503 87913503 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024636.2 -1 validated p.G28C 1.000 102 0% 121 44.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_F420_oxidored,superfamily_NAD(P)-binding Rossmann-fold domains C7orf62 219557 genome.wustl.edu 37 7 88423553 88423553 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152706.2 -1 predicted p.R235I 0.038 248 0% 321 42.7% 0 - benign(0.314) tolerated(0.08) neutral(0.398) NULL C7orf62 219557 genome.wustl.edu 37 7 88423926 88423926 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152706.2 -1 predicted p.L111I 0.620 109 0% 114 36% 0 - possibly_damaging(0.851) tolerated(0.08) deleterious(0.627) NULL ZNF804B 219578 genome.wustl.edu 37 7 88963161 88963161 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_181646.2 +1 provisional p.E289* 1.000 98 0% 92 35.9% 0 - - - - NULL STEAP1 26872 genome.wustl.edu 37 7 89790239 89790239 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_012449.2 +1 reviewed p.P69T 1.000 191 0% 251 20.7% 2 0% possibly_damaging(0.607) tolerated(0.2) neutral(0.260) NULL C7orf63 79846 genome.wustl.edu 37 7 89887435 89887435 + Silent SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001039706.2 +1 validated p.L68 0.965 244 0% 297 40.4% 0 - - - - superfamily_ARM-type_fold C7orf63 79846 genome.wustl.edu 37 7 89915595 89915595 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001039706.2 +1 validated p.G513E 0.997 127 0% 149 46.3% 0 - benign(0.004) tolerated(0.93) - superfamily_ARM-type_fold C7orf63 79846 genome.wustl.edu 37 7 89929311 89929311 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001039706.2 +1 validated p.K663T 1.000 331 0% 401 46.4% 1 0% possibly_damaging(0.833) tolerated(0.07) deleterious(0.637) NULL CDK14 5218 genome.wustl.edu 37 7 90377037 90377037 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_012395.2 +1 validated p.K119N 1.000 259 0% 361 36.3% 0 - possibly_damaging(0.722) deleterious(0) deleterious(0.707) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase AKAP9 10142 genome.wustl.edu 37 7 91625110 91625110 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005751.4 +1 reviewed p.E309A 1.000 90 0% 121 28.9% 0 - probably_damaging(0.998) deleterious(0.03) deleterious(0.839) NULL AKAP9 10142 genome.wustl.edu 37 7 91630473 91630473 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005751.4 +1 reviewed p.F414 1.000 81 0% 99 39.4% 4 75% - - - NULL AKAP9 10142 genome.wustl.edu 37 7 91630925 91630925 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005751.4 +1 reviewed p.L565R 1.000 99 0% 112 52.7% 1 0% probably_damaging(0.999) tolerated(0.23) deleterious(0.532) NULL AKAP9 10142 genome.wustl.edu 37 7 91726345 91726345 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005751.4 +1 reviewed p.R3358C 0.991 138 0% 176 39.8% 7 71.4% probably_damaging(1) deleterious(0) deleterious(0.945) NULL AKAP9 10142 genome.wustl.edu 37 7 91737905 91737905 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005751.4 +1 reviewed p.R3882W 1.000 148 0% 184 47.3% 14 35.7% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ENSG00000240720 0 genome.wustl.edu 37 7 91793060 91793060 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000430130 -1 known p.L486S 0.115 73 0% 91 47.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00369,HMMSmart_SM00364,superfamily_L domain-like ENSG00000240720 0 genome.wustl.edu 37 7 91793492 91793492 + Missense_Mutation SNP G G C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000430130 -1 known p.A342G 1.000 59 0% 78 14.1% 0 - probably_damaging(0.969) deleterious(0.04) deleterious(0.760) HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like ANKIB1 54467 genome.wustl.edu 37 7 91957139 91957139 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_019004.1 +1 validated p.D238Y 1.000 247 0.4% 307 41.7% 8 50% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ANK SAMD9L 219285 genome.wustl.edu 37 7 92762829 92762829 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152703.2 -1 validated p.H819R 0.001 110 0% 129 41.9% 0 - benign(0.024) tolerated(0.08) neutral(0.301) NULL SAMD9L 219285 genome.wustl.edu 37 7 92763756 92763756 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152703.2 -1 validated p.K510T 0.173 114 0% 117 43.6% 0 - possibly_damaging(0.793) deleterious(0) deleterious(0.742) NULL HEPACAM2 253012 genome.wustl.edu 37 7 92837974 92837974 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001039372.1 -1 provisional p.M311L 0.007 175 0% 307 19.5% 0 - benign(0) tolerated(0.88) - HMMSmart_SM00409,superfamily_Immunoglobulin SGCE 8910 genome.wustl.edu 37 7 94217116 94217116 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001099400.1 -1 reviewed p.R427C 1.000 131 0% 147 21.1% 0 - benign(0.001) tolerated(0.14) neutral(0.249) NULL SGCE 8910 genome.wustl.edu 37 7 94228225 94228225 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001099401.1 -1 reviewed p.R372Q 1.000 237 0% 364 17% 3 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Sarcoglycan_2 PPP1R9A 55607 genome.wustl.edu 37 7 94540512 94540512 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017650.2 +1 validated p.E363* 0.000 135 0% 215 18.6% 1 0% - - - NULL PON2 5445 genome.wustl.edu 37 7 95041658 95041658 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000305.2 -1 reviewed p.F111L 0.998 356 0% 446 40.6% 22 50% possibly_damaging(0.844) tolerated(0.12) deleterious(0.584) superfamily_SSF63829 PDK4 5166 genome.wustl.edu 37 7 95222230 95222230 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002612.3 -1 reviewed p.R124Q 1.000 277 0% 336 41.1% 1 100% possibly_damaging(0.92) deleterious(0.02) deleterious(0.754) HMMPfam_BCDHK_Adom3,superfamily_alpha-ketoacid dehydrogenase kinase N-terminal domain SLC25A13 10165 genome.wustl.edu 37 7 95926221 95926221 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014251.2 -1 reviewed p.I20L 1.000 90 0% 136 15.4% 0 - benign(0.169) tolerated(0.68) neutral(0.018) superfamily_SSF47473 LMTK2 22853 genome.wustl.edu 37 7 97821315 97821315 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014916.3 +1 reviewed p.S513L 0.708 42 0% 50 46% 3 66.6% possibly_damaging(0.925) deleterious(0) deleterious(0.818) NULL BAIAP2L1 55971 genome.wustl.edu 37 7 97937172 97937172 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018842.4 -1 reviewed p.S331L 0.992 218 0.5% 318 21.4% 54 9.2% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL TRRAP 8295 genome.wustl.edu 37 7 98508010 98508010 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003496.2 +1 validated p.T561M 1.000 93 0% 107 45.8% 9 33.3% probably_damaging(1) tolerated(0.11) deleterious(0.772) NULL KPNA7 402569 genome.wustl.edu 37 7 98779541 98779541 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001145715.1 -1 validated p.L428I 0.472 92 0% 136 44.9% 0 - benign(0.001) tolerated(0.14) neutral(0.249) HMMSmart_ARM,superfamily_ARM-type_fold ARPC1B 10095 genome.wustl.edu 37 7 98984382 98984382 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005720.2 +1 reviewed p.E47K 1.000 89 0% 139 42.4% 442 34.1% benign(0.073) tolerated(0.12) neutral(0.266) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 ZNF655 79027 genome.wustl.edu 37 7 99170700 99170700 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001083956.1 +1 reviewed p.K358N 0.681 101 0% 133 40.6% 7 42.8% benign(0.244) tolerated(0.08) neutral(0.325) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 CYP3A5 1577 genome.wustl.edu 37 7 99264634 99264634 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000777.2 -1 reviewed p.E125K 0.975 365 0% 458 44.8% 1 100% benign(0.002) tolerated(0.09) neutral(0.296) HMMPfam_p450,superfamily_Cytochrome P450 TRIM4 89122 genome.wustl.edu 37 7 99500861 99500861 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_033017.2 -1 reviewed p.E300G 0.999 228 0% 254 20.9% 14 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL TRIM4 89122 genome.wustl.edu 37 7 99506313 99506313 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000447480 -1 known p.E106* 0.049 421 0% 528 13.1% 2 0% benign(0.017) tolerated(0.36) neutral(0.021) NULL TRIM4 89122 genome.wustl.edu 37 7 99514365 99514365 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_033017.2 -1 reviewed p.R144I 0.028 261 0% 342 44.7% 0 - possibly_damaging(0.815) tolerated(0.23) neutral(0.349) NULL GJC3 349149 genome.wustl.edu 37 7 99526665 99526665 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_181538.2 -1 reviewed p.K193N 0.995 197 0% 261 21.1% 0 - benign(0.009) tolerated(0.11) neutral(0.272) HMMPfam_Connexin_CCC ZNF3 7551 genome.wustl.edu 37 7 99669475 99669475 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032924.3 -1 validated p.R211Q 0.883 133 0% 173 39.3% 6 16.6% benign(0.028) tolerated(0.47) neutral(0.012) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 MCM7 4176 genome.wustl.edu 37 7 99695872 99695872 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005916.3 -1 reviewed p.T254 0.080 109 0% 150 44.7% 148 51.3% - - - HMMSmart_SM00350,superfamily_Nucleic acid-binding proteins C7orf43 55262 genome.wustl.edu 37 7 99755304 99755304 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018275.3 -1 predicted p.S197P 0.997 57 0% 90 13.3% 41 21.9% benign(0.189) tolerated(0.05) neutral(0.363) NULL STAG3 10734 genome.wustl.edu 37 7 99799591 99799591 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_012447.2 +1 validated p.R774K 0.980 163 0% 263 44.1% 3 33.3% benign(0) tolerated(0.58) neutral(0.005) superfamily_ARM repeat PVRIG 79037 genome.wustl.edu 37 7 99818869 99818869 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024070.3 +1 validated p.R326* 0.000 25 0% 42 23.8% 1 0% - - - NULL SPDYE3 441272 genome.wustl.edu 37 7 99917587 99917587 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001004351.4 +1 validated p.A165T 0.016 154 1.3% 204 53.4% 1 100% benign(0) tolerated(0.65) neutral(0.003) NULL FBXO24 26261 genome.wustl.edu 37 7 100187813 100187813 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_033506.2 +1 reviewed p.S52* 1.000 39 0% 79 38% 0 - - - - HMMPfam_F-box,HMMSmart_SM00256,superfamily_F-box domain ZAN 7455 genome.wustl.edu 37 7 100348429 100348429 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003386.1 +1 reviewed p.P477 0.000 41 0% 33 63.6% 0 - - - - HMMPfam_MAM,HMMSmart_SM00137 ZAN 7455 genome.wustl.edu 37 7 100350522 100350522 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003386.1 +1 reviewed p.E932* 0.000 1267 0.1% 1184 42.7% 0 - - - - NULL MUC17 140453 genome.wustl.edu 37 7 100678422 100678422 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001040105.1 +1 provisional p.S1242Y 0.000 239 0% 295 44.1% 0 - unknown(0) - - NULL MUC17 140453 genome.wustl.edu 37 7 100681428 100681428 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001040105.1 +1 provisional p.P2244H 0.002 315 0% 394 40.9% 0 - unknown(0) - - NULL MUC17 140453 genome.wustl.edu 37 7 100686030 100686030 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001040105.1 +1 provisional p.S3778Y 0.001 152 0% 227 32.6% 0 - probably_damaging(0.993) - - NULL MUC17 140453 genome.wustl.edu 37 7 100692640 100692640 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001040105.1 +1 provisional p.V4233 0.000 282 0% 344 43.6% 0 - - - - HMMPfam_SEA,HMMSmart_SM00200,superfamily_SEA domain TRIM56 81844 genome.wustl.edu 37 7 100732713 100732713 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_030961.1 +1 provisional p.P707L 0.939 102 0% 122 49.2% 6 50% probably_damaging(1) deleterious(0.02) deleterious(0.883) superfamily_NHL repeat CLDN15 24146 genome.wustl.edu 37 7 100880775 100880775 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014343.2 -1 reviewed p.R30* 0.984 142 0% 151 47.7% 18 61.1% - - - HMMPfam_PMP22_Claudin RABL5 64792 genome.wustl.edu 37 7 100961433 100961433 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_022777.2 -1 validated p.E60K 0.999 227 0.4% 267 45.3% 80 41.2% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) superfamily_P-loop containing nucleoside triphosphate hydrolases CUX1 1523 genome.wustl.edu 37 7 101559470 101559470 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_181552.2 +1 reviewed p.E36K 1.000 93 0% 118 37.3% 14 78.5% possibly_damaging(0.715) deleterious(0.01) deleterious(0.665) NULL CUX1 1523 genome.wustl.edu 37 7 101758501 101758501 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_181552.2 +1 reviewed p.R208* 1.000 201 0% 252 42.9% 7 0% - - - NULL CUX1 1523 genome.wustl.edu 37 7 101758540 101758540 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_181552.2 +1 reviewed p.E221* 1.000 225 0% 273 10.3% 10 0% - - - NULL LRRC17 10234 genome.wustl.edu 37 7 102575091 102575091 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001031692.2 +1 validated p.N244S 0.970 62 0% 89 36% 5 20% benign(0.032) tolerated(0.65) neutral(0.005) superfamily_RNI-like NAPEPLD 222236 genome.wustl.edu 37 7 102755526 102755526 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001122838.1 -1 validated p.T346N 1.000 283 0% 306 39.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF56281 RELN 5649 genome.wustl.edu 37 7 103136269 103136269 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005045.3 -1 reviewed p.S3090 1.000 405 0.2% 540 17.4% 0 - - - - superfamily_Sialidase RELN 5649 genome.wustl.edu 37 7 103179696 103179696 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005045.3 -1 reviewed p.L2337I 1.000 101 0% 141 51.8% 1 0% possibly_damaging(0.614) tolerated(0.12) deleterious(0.474) NULL RELN 5649 genome.wustl.edu 37 7 103179771 103179771 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005045.3 -1 reviewed p.L2312I 1.000 93 0% 117 44.4% 0 - probably_damaging(0.958) tolerated(0.08) deleterious(0.702) NULL ORC5 5001 genome.wustl.edu 37 7 103838178 103838178 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002553.2 -1 reviewed p.E146* 1.000 191 0% 212 42% 0 - - - - superfamily_P-loop containing nucleoside triphosphate hydrolases MLL5 55904 genome.wustl.edu 37 7 104730515 104730515 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018682.3 +1 reviewed p.R473H 1.000 191 0% 226 19.5% 2 0% possibly_damaging(0.442) tolerated(0.11) neutral(0.416) NULL PUS7 54517 genome.wustl.edu 37 7 105103129 105103129 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_019042.3 -1 validated p.R566* 1.000 292 0% 367 46.3% 6 16.6% - - - HMMPfam_TruD,superfamily_PsdUridine_synth_cat_dom RINT1 60561 genome.wustl.edu 37 7 105204224 105204224 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_021930.4 +1 validated p.E572D 0.819 180 0% 173 38.7% 8 37.5% benign(0.001) tolerated(0.27) neutral(0.034) HMMPfam_RINT1_TIP1 PIK3CG 5294 genome.wustl.edu 37 7 106519979 106519979 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002649.2 +1 reviewed p.V803L 1.000 173 0% 236 44.1% 0 - probably_damaging(0.955) tolerated(0.07) deleterious(0.718) superfamily_Protein kinase-like (PK-like) COG5 10466 genome.wustl.edu 37 7 106851554 106851554 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006348.3 -1 validated p.S793Y 1.000 134 0% 133 41.4% 35 42.8% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL DUS4L 11062 genome.wustl.edu 37 7 107211697 107211697 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_181581.1 +1 validated p.F75C 1.000 174 0% 214 45.3% 4 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Dus,superfamily_FMN-linked oxidoreductases BCAP29 55973 genome.wustl.edu 37 7 107262250 107262250 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000379119 +1 known p.P289L 0.000 201 0% 207 41.1% 16 37.5% unknown(0) - - NULL BCAP29 55973 genome.wustl.edu 37 7 107269274 107269274 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000379121 +1 known p.A233D 0.993 262 0.4% 304 40.1% 1 100% - - - NULL SLC26A4 5172 genome.wustl.edu 37 7 107350565 107350565 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000441.1 +1 reviewed p.F719C 0.993 297 0% 363 17.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_STAS,superfamily_STAS NRCAM 4897 genome.wustl.edu 37 7 107872930 107872930 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001037132.1 -1 reviewed p.I89 1.000 91 0% 150 34% 0 - - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin PNPLA8 50640 genome.wustl.edu 37 7 108155557 108155557 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015723.2 -1 provisional p.A127S 1.000 149 0% 189 45% 4 25% benign(0.01) tolerated(0.28) neutral(0.032) NULL THAP5 168451 genome.wustl.edu 37 7 108205150 108205150 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001130475.1 -1 validated p.L225I 0.008 102 0% 153 49.7% 1 0% benign(0.001) tolerated(0.29) neutral(0.029) NULL DNAJB9 4189 genome.wustl.edu 37 7 108212225 108212225 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_012328.1 +1 provisional p.E19* 1.000 137 0% 169 34.9% 9 22.2% - - - superfamily_Chaperone J-domain IMMP2L 83943 genome.wustl.edu 37 7 110603594 110603594 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032549.2 -1 provisional p.I89 1.000 214 0% 255 38% 3 66.6% - - - superfamily_LexA/Signal peptidase,HMMPfam_Peptidase_S24 LRRN3 54674 genome.wustl.edu 37 7 110764247 110764247 + Missense_Mutation SNP C C A rs11979902 byHapMap TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001099658.1 +1 validated p.F473L 0.999 108 0% 124 38.7% 0 - possibly_damaging(0.822) tolerated(0.2) neutral(0.360) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin ZNF277 11179 genome.wustl.edu 37 7 111936337 111936337 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_021994.2 +1 validated p.L146I 0.996 154 0.6% 186 18.8% 0 - probably_damaging(0.996) tolerated(0.15) deleterious(0.703) NULL C7orf60 154743 genome.wustl.edu 37 7 112462262 112462262 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152556.2 -1 validated p.S252F 1.000 127 0% 152 43.4% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL GPR85 54329 genome.wustl.edu 37 7 112723916 112723916 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018970.6 -1 validated p.F287L 1.000 168 0% 180 46.7% 0 - benign(0.301) tolerated(0.16) neutral(0.152) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like PPP1R3A 5506 genome.wustl.edu 37 7 113518608 113518608 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002711.3 -1 reviewed p.E847* 0.972 354 0.3% 457 11.8% 0 - - - - NULL FOXP2 93986 genome.wustl.edu 37 7 114298281 114298281 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_148898.2 +1 reviewed p.R501Q 1.000 197 0% 319 47% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL FOXP2 93986 genome.wustl.edu 37 7 114329945 114329945 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_148898.2 +1 reviewed p.E729D 1.000 154 0% 161 46% 0 - unknown(0) tolerated(0.93) - NULL CAV2 858 genome.wustl.edu 37 7 116140470 116140470 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001233.3 +1 reviewed p.L103I 0.889 150 0% 168 42.9% 14 0% benign(0.003) tolerated(0.17) neutral(0.059) HMMPfam_Caveolin CAV1 857 genome.wustl.edu 37 7 116199070 116199070 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001753.4 +1 reviewed p.F89S 1.000 214 0% 292 41.8% 116 11.2% benign(0.047) tolerated(0.1) neutral(0.289) HMMPfam_Caveolin ST7 7982 genome.wustl.edu 37 7 116810958 116810958 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_021908.2 +1 reviewed p.E336* 1.000 289 0% 411 32.8% 5 0% - - - HMMPfam_ST7 CTTNBP2 83992 genome.wustl.edu 37 7 117431991 117431991 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_033427.2 -1 reviewed p.S420L 0.001 265 0% 408 44.1% 4 0% benign(0.309) tolerated(0.22) neutral(0.139) HMMPfam_CortBP2 CTTNBP2 83992 genome.wustl.edu 37 7 117432577 117432577 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_033427.2 -1 reviewed p.A225T 1.000 392 0% 529 40.1% 1 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_CortBP2 NAA38 51691 genome.wustl.edu 37 7 117832015 117832015 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016200.4 +1 reviewed p.G84R 1.000 325 0% 323 45.2% 39 48.7% benign(0.025) deleterious(0.03) neutral(0.365) NULL ANKRD7 56311 genome.wustl.edu 37 7 117876922 117876922 + Silent SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_019644.3 +1 validated p.C218 0.000 325 0% 442 48.4% 0 - - - - HMMPfam_Ank,HMMSmart_SM00248 KCND2 3751 genome.wustl.edu 37 7 119915032 119915032 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_012281.2 +1 reviewed p.D116N 1.000 26 0% 42 35.7% 1 100% probably_damaging(0.996) deleterious(0.05) deleterious(0.807) HMMSmart_SM00225,HMMPfam_K_tetra,superfamily_POZ domain ING3 54556 genome.wustl.edu 37 7 120609078 120609078 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_019071.2 +1 reviewed p.R243Q 1.000 175 0% 227 45.8% 1 0% possibly_damaging(0.928) deleterious(0.02) deleterious(0.758) NULL C7orf58 79974 genome.wustl.edu 37 7 120629731 120629731 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024913.4 +1 validated p.L19S 1.000 171 0% 229 41.9% 2 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL C7orf58 79974 genome.wustl.edu 37 7 120906389 120906389 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024913.4 +1 validated p.H807N 0.244 231 0% 329 46.8% 7 0% possibly_damaging(0.624) tolerated(0.94) neutral(0.217) NULL WNT16 51384 genome.wustl.edu 37 7 120979001 120979001 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_057168.1 +1 reviewed p.T234A 1.000 104 0% 137 41.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_wnt,HMMSmart_SM00097 PTPRZ1 5803 genome.wustl.edu 37 7 121652397 121652397 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002851.2 +1 reviewed p.F1099L 0.150 182 0% 225 39.6% 0 - benign(0) tolerated(0.31) neutral(0.027) NULL PTPRZ1 5803 genome.wustl.edu 37 7 121652756 121652756 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002851.2 +1 reviewed p.S1219Y 0.292 183 0% 236 38.6% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL PTPRZ1 5803 genome.wustl.edu 37 7 121652840 121652840 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002851.2 +1 reviewed p.S1247L 0.006 114 0% 177 45.8% 0 - benign(0.271) tolerated(0.82) neutral(0.030) NULL CADPS2 93664 genome.wustl.edu 37 7 122130219 122130219 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017954.10 -1 reviewed p.G590S 1.000 274 0% 392 50.5% 9 22.2% benign(0.104) deleterious(0.04) neutral(0.357) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like RNF148 378925 genome.wustl.edu 37 7 122342644 122342644 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_198085.1 -1 validated p.S54L 0.837 245 0.4% 316 36.4% 0 - benign(0.361) tolerated(0.66) neutral(0.117) superfamily_SSF52025 ASB15 142685 genome.wustl.edu 37 7 123276904 123276904 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_080928.3 +1 validated p.R546* 1.000 120 0% 142 40.1% 0 - - - - HMMPfam_SOCS_box,HMMSmart_SM00253 LMOD2 442721 genome.wustl.edu 37 7 123303072 123303072 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_207163.1 +1 validated p.K478Q 1.000 262 0% 296 13.9% 0 - benign(0.085) tolerated(0.2) neutral(0.055) NULL LMOD2 442721 genome.wustl.edu 37 7 123303228 123303228 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_207163.1 +1 validated p.R530W 1.000 64 0% 83 39.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_WH2 HYAL4 23553 genome.wustl.edu 37 7 123508736 123508736 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_012269.2 +1 reviewed p.D137Y 0.465 61 0% 95 48.4% 0 - probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMPfam_Glyco_hydro_56,superfamily_Glyco_hydro_cat SPAM1 6677 genome.wustl.edu 37 7 123593975 123593975 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003117.4 +1 reviewed p.K117N 0.000 71 0% 53 28.3% 0 - benign(0.011) tolerated(0.4) neutral(0.017) HMMPfam_Glyco_hydro_56,superfamily_Glyco_hydro_cat GPR37 2861 genome.wustl.edu 37 7 124387098 124387098 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005302.2 -1 provisional p.A441 0.000 175 0% 231 44.2% 27 44.4% - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like GPR37 2861 genome.wustl.edu 37 7 124404209 124404209 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005302.2 -1 provisional p.T274 0.948 73 0% 130 48.5% 39 33.3% - - - superfamily_Family A G protein-coupled receptor-like GRM8 2918 genome.wustl.edu 37 7 126173176 126173176 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000845.2 -1 reviewed p.G754* 1.000 195 0% 265 40.8% 2 0% - - - HMMPfam_7tm_3 GRM8 2918 genome.wustl.edu 37 7 126542734 126542734 + Splice_Site SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000845.2 -1 reviewed e5-1 1.000 265 0% 303 42.6% 0 - - - - - ZNF800 168850 genome.wustl.edu 37 7 127013685 127013685 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000265827 -1 known p.L569I 1.000 284 0.4% 390 40.5% 1 100% probably_damaging(0.998) tolerated(0.22) deleterious(0.516) NULL ZNF800 168850 genome.wustl.edu 37 7 127014788 127014788 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000265827 -1 known p.D201G 1.000 121 0% 188 41% 4 50% benign(0) deleterious(0.02) neutral(0.383) NULL SND1 27044 genome.wustl.edu 37 7 127341310 127341310 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014390.2 +1 validated p.R174 0.993 202 0% 298 41.6% 106 76.4% - - - NULL SND1 27044 genome.wustl.edu 37 7 127631005 127631005 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014390.2 +1 validated p.E559* 1.000 110 0% 120 45% 134 1.4% - - - HMMPfam_SNase,HMMSmart_SNc,superfamily_Staphylococal_nuclease_OB-fold RBM28 55131 genome.wustl.edu 37 7 127953322 127953322 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018077.2 -1 reviewed p.R684Q 1.000 269 0% 414 42.8% 16 43.7% probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL IMPDH1 3614 genome.wustl.edu 37 7 128035011 128035011 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000883.3 -1 reviewed p.K494N 1.000 70 0% 79 51.9% 50 42% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_IMPDH,superfamily_SSF51412 CALU 813 genome.wustl.edu 37 7 128409214 128409214 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001130674.1 +1 reviewed p.E314G 1.000 207 0% 282 46.1% 50 18% benign(0.35) deleterious(0) deleterious(0.555) NULL CCDC136 64753 genome.wustl.edu 37 7 128434403 128434403 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_022742.3 +1 validated p.G6 1.000 52 0% 53 43.4% 0 - - - - NULL FLNC 2318 genome.wustl.edu 37 7 128477720 128477720 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001458.4 +1 reviewed p.Q294K 1.000 41 0% 40 45% 1 0% benign(0) tolerated(1) - HMMSmart_SM00557,superfamily_E set domains,HMMPfam_Filamin FLNC 2318 genome.wustl.edu 37 7 128480651 128480651 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001458.4 +1 reviewed p.F533 0.986 207 0% 199 42.2% 5 20% - - - HMMSmart_SM00557,superfamily_E set domains,HMMPfam_Filamin FLNC 2318 genome.wustl.edu 37 7 128482402 128482402 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001458.4 +1 reviewed p.V747I 1.000 23 0% 48 41.7% 4 50% benign(0.38) tolerated(0.05) neutral(0.467) HMMSmart_SM00557,superfamily_E set domains,HMMPfam_Filamin IRF5 3663 genome.wustl.edu 37 7 128588141 128588141 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001098629.1 +1 reviewed p.K382N 1.000 100 0% 181 42.5% 2 50% probably_damaging(0.959) tolerated(0.08) deleterious(0.703) superfamily_SMAD_FHA,HMMPfam_IRF-3 FAM40B 57464 genome.wustl.edu 37 7 129095142 129095142 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020704.2 +1 validated p.K255R 1.000 217 0% 326 27.6% 0 - probably_damaging(0.994) tolerated(0.5) neutral(0.462) HMMPfam_N1221 UBE2H 7328 genome.wustl.edu 37 7 129474806 129474806 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003344.2 -1 reviewed p.E175K 1.000 148 0% 148 41.9% 16 25% probably_damaging(0.991) tolerated(0.06) deleterious(0.766) NULL KLHDC10 23008 genome.wustl.edu 37 7 129769276 129769276 + Splice_Site SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014997.2 +1 validated e9-1 1.000 183 0% 213 42.7% 1 100% - - - - C7orf45 136263 genome.wustl.edu 37 7 129855849 129855849 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_145268.3 +1 validated p.D92N 0.086 240 0% 269 40.9% 0 - possibly_damaging(0.507) deleterious(0.04) deleterious(0.518) NULL KLF14 136259 genome.wustl.edu 37 7 130418270 130418270 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_138693.2 -1 reviewed p.C197 0.998 22 0% 37 56.8% 1 0% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers PODXL 5420 genome.wustl.edu 37 7 131196152 131196152 + Silent SNP C C T rs138137657 by1000genomes TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001018111.2 -1 reviewed p.P47 0.000 486 0.4% 605 44.3% 571 55.6% - - - NULL PLXNA4 91584 genome.wustl.edu 37 7 131831456 131831456 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020911.1 -1 validated p.N1623S 1.000 72 0% 113 48.7% 0 - benign(0) tolerated(0.69) neutral(0.002) superfamily_GTPase activation domain GAP,HMMPfam_Plexin_cytopl PLXNA4 91584 genome.wustl.edu 37 7 131865477 131865477 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020911.1 -1 validated p.I1169 1.000 28 0% 42 26.2% 0 - - - - HMMPfam_TIG,HMMSmart_SM00429,superfamily_E set domains CALD1 800 genome.wustl.edu 37 7 134625911 134625911 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_033138.3 +1 reviewed p.K485N 1.000 142 0% 201 37.3% 8 0% unknown(0) deleterious(0.01) - HMMPfam_Caldesmon AGBL3 340351 genome.wustl.edu 37 7 134719318 134719318 + Missense_Mutation SNP C C T rs192567465 by1000genomes TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_178563.3 +1 provisional p.R326C 1.000 197 0% 239 18.4% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Peptidase_M14,superfamily_Zn-dependent exopeptidases WDR91 29062 genome.wustl.edu 37 7 134878136 134878136 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014149.3 -1 validated p.A502 0.997 53 0% 58 39.7% 17 23.5% - - - superfamily_WD40 repeat-like NUP205 23165 genome.wustl.edu 37 7 135282914 135282914 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015135.2 +1 validated p.L745I 1.000 193 0% 268 25.4% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL NUP205 23165 genome.wustl.edu 37 7 135292084 135292084 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015135.2 +1 validated p.R1054* 0.073 137 0% 185 38.4% 13 23% - - - NULL NUP205 23165 genome.wustl.edu 37 7 135301962 135301962 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015135.2 +1 validated p.K1219N 1.000 313 0% 403 39.2% 8 37.5% benign(0.286) tolerated(0.49) neutral(0.098) NULL CHRM2 1129 genome.wustl.edu 37 7 136699628 136699628 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000739.2 +1 reviewed p.N6H 1.000 233 0% 317 39.1% 0 - unknown(0) tolerated(0.17) - superfamily_Family A G protein-coupled receptor-like DGKI 9162 genome.wustl.edu 37 7 137237214 137237214 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004717.2 -1 reviewed p.P683H 1.000 85 0% 133 45.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DAGK_acc,HMMSmart_DAGKa ATP6V0A4 50617 genome.wustl.edu 37 7 138441268 138441268 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020632.2 -1 reviewed p.K219N 1.000 250 0% 259 44.8% 1 100% possibly_damaging(0.948) deleterious(0.03) deleterious(0.756) HMMPfam_V_ATPase_I LUC7L2 51631 genome.wustl.edu 37 7 139102432 139102432 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016019.2 +1 validated p.R320W 1.000 104 0% 150 50% 64 34.3% unknown(0) deleterious(0.01) - NULL PARP12 64761 genome.wustl.edu 37 7 139754560 139754560 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000491598 -1 known p.E2* 1.000 276 0% 284 41.2% 2 0% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL DENND2A 27147 genome.wustl.edu 37 7 140259550 140259550 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015689.3 -1 validated p.F616C 1.000 262 0% 309 43.4% 13 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_uDENN,HMMSmart_SM00800 DENND2A 27147 genome.wustl.edu 37 7 140273771 140273771 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015689.3 -1 validated p.S428* 1.000 267 0% 386 44.3% 3 0% - - - NULL DENND2A 27147 genome.wustl.edu 37 7 140301333 140301333 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015689.3 -1 validated p.F289V 0.002 122 0.8% 127 48% 1 0% benign(0.253) tolerated(0.49) neutral(0.036) NULL AGK 55750 genome.wustl.edu 37 7 141351366 141351366 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018238.3 +1 validated p.T363M 0.997 63 0% 95 34.7% 30 26.6% possibly_damaging(0.693) deleterious(0.01) deleterious(0.653) NULL TAS2R3 50831 genome.wustl.edu 37 7 141464017 141464017 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016943.2 +1 reviewed p.G20E 0.995 313 0% 380 45.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TAS2R,superfamily_Family A G protein-coupled receptor-like MGAM 8972 genome.wustl.edu 37 7 141727469 141727469 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004668.2 +1 reviewed p.Y385 0.421 141 0% 171 38.6% 0 - - - - HMMPfam_Glyco_hydro_31 MGAM 8972 genome.wustl.edu 37 7 141734096 141734096 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004668.2 +1 reviewed p.L568 0.998 98 0% 119 37% 0 - - - - HMMPfam_Glyco_hydro_31 TRBV7-6 28592 genome.wustl.edu 37 7 142139377 142139377 + Missense_Mutation SNP C C T rs191214614 by1000genomes TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000390374 -1 known p.R83Q 0.000 147 0% 188 41% 0 - probably_damaging(0.995) tolerated(0.08) deleterious(0.758) HMMSmart_SM00406,HMMPfam_V-set,superfamily_Immunoglobulin EPHB6 2051 genome.wustl.edu 37 7 142566827 142566827 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004445.3 +1 reviewed p.S795L 0.928 19 0% 18 44.4% 54 33.3% benign(0.001) deleterious(0) neutral(0.445) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) TAS2R39 259285 genome.wustl.edu 37 7 142880600 142880600 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_176881.2 +1 provisional p.S30L 0.005 216 0% 291 48.8% 0 - benign(0.08) deleterious(0) neutral(0.450) HMMPfam_TAS2R,superfamily_SSF81321 TAS2R40 259286 genome.wustl.edu 37 7 142919941 142919941 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_176882.1 +1 provisional p.I257T 0.027 94 0% 135 12.6% 0 - benign(0.003) tolerated(0.12) neutral(0.261) HMMPfam_TAS2R,superfamily_Family A G protein-coupled receptor-like GSTK1 373156 genome.wustl.edu 37 7 142961700 142961700 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001143679.1 +1 reviewed p.L72F 0.000 180 0% 252 47.6% 142 47.8% possibly_damaging(0.803) tolerated(0.21) neutral(0.346) HMMPfam_DSBA,superfamily_Thiordxn-like_fd CASP2 835 genome.wustl.edu 37 7 142997326 142997326 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032982.2 +1 reviewed p.N302 0.993 115 0% 91 45.1% 23 34.7% - - - HMMPfam_Peptidase_C14,HMMSmart_SM00115,superfamily_Caspase-like FAM131B 9715 genome.wustl.edu 37 7 143054021 143054021 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001031690.2 -1 validated p.S235 0.991 36 0% 30 43.3% 2 0% - - - NULL FAM131B 9715 genome.wustl.edu 37 7 143056656 143056656 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000452076 -1 known p.P30H 0.013 58 0% 57 21.1% 0 - probably_damaging(0.999) - - NULL LOC728377 728377 genome.wustl.edu 37 7 143983587 143983587 + RNA SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XR_078379.1 -1 model NULL 0.095 100 0% 95 36.8% 4 25% - - - - ARHGEF5 7984 genome.wustl.edu 37 7 144060969 144060969 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005435.3 +1 reviewed p.H403Y 0.104 219 0% 286 21% 13 23% benign(0.044) deleterious(0.02) neutral(0.386) NULL ARHGEF5 7984 genome.wustl.edu 37 7 144077105 144077105 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005435.3 +1 reviewed p.R1584* 0.992 100 1% 122 44.3% 21 47.6% - - - NULL CNTNAP2 26047 genome.wustl.edu 37 7 147869528 147869528 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014141.5 +1 reviewed p.D990N 1.000 204 0% 241 43.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases CNTNAP2 26047 genome.wustl.edu 37 7 147926752 147926752 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014141.5 +1 reviewed p.R1088* 0.997 221 0.5% 236 40.3% 1 0% - - - HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 CUL1 8454 genome.wustl.edu 37 7 148494941 148494941 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003592.2 +1 validated p.S646L 1.000 420 0.5% 484 23.8% 23 17.3% possibly_damaging(0.45) tolerated(0.15) neutral(0.388) HMMPfam_Cullin,superfamily_Cullin homology domain CUL1 8454 genome.wustl.edu 37 7 148494942 148494942 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003592.2 +1 validated p.S646 0.003 419 0% 489 46% 25 60% - - - HMMPfam_Cullin,superfamily_Cullin homology domain EZH2 2146 genome.wustl.edu 37 7 148525837 148525837 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004456.3 -1 reviewed p.R207Q 0.078 307 0.7% 355 39.7% 0 - benign(0) tolerated(0.4) neutral(0.016) HMMSmart_SANT ZNF775 285971 genome.wustl.edu 37 7 150093893 150093893 + Silent SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_173680.3 +1 validated p.V108 1.000 8 0.000 19 0.368 4 75% - - - HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,superfamily_SSF57667 GIMAP8 155038 genome.wustl.edu 37 7 150164422 150164422 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_175571.2 +1 reviewed p.Q212H 0.025 43 0% 57 38.6% 1 0% probably_damaging(0.956) tolerated(0.07) deleterious(0.719) HMMPfam_AIG1 GIMAP4 55303 genome.wustl.edu 37 7 150269429 150269429 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018326.2 +1 reviewed p.D91N 0.999 137 0% 199 46.2% 7 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_AIG1,superfamily_SSF52540 GIMAP2 26157 genome.wustl.edu 37 7 150389858 150389858 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015660.2 +1 reviewed p.D162N 0.000 100 0% 160 48.7% 5 40% benign(0) tolerated(0.48) neutral(0.011) HMMPfam_AIG1,superfamily_SSF52540 ABP1 26 genome.wustl.edu 37 7 150554283 150554283 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001091.2 +1 reviewed p.F242S 1.000 89 0% 109 51.4% 74 48.6% benign(0.121) deleterious(0.02) neutral(0.393) superfamily_Amine oxidase N-terminal region ABP1 26 genome.wustl.edu 37 7 150557704 150557704 + Nonsense_Mutation SNP G G T rs150589026 by1000genomes TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001091.2 +1 reviewed p.E658* 1.000 109 0% 165 39.4% 90 46.6% - - - HMMPfam_Cu_amine_oxid,superfamily_Amine oxidase catalytic domain ATG9B 285973 genome.wustl.edu 37 7 150713883 150713883 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_173681.5 -1 validated p.S772L 0.983 118 0% 172 49.4% 0 - benign(0.164) - - NULL SLC4A2 6522 genome.wustl.edu 37 7 150767631 150767631 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003040.3 +1 validated p.N513D 1.000 39 0% 46 41.3% 69 44.9% benign(0.009) tolerated(1) neutral(0.001) HMMPfam_Band_3_cyto,superfamily_Phoshotransferase/anion transport protein ASB10 136371 genome.wustl.edu 37 7 150884266 150884267 + Frame_Shift_Ins INS - - AG novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001142459.1 -1 reviewed p.P30fs 0.000:0.003 - - - - - - - - - NULL GALNTL5 168391 genome.wustl.edu 37 7 151664366 151664366 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_145292.3 +1 validated p.G12E 0.000 140 0% 141 25.5% 0 - probably_damaging(0.974) deleterious(0) deleterious(0.861) NULL GALNTL5 168391 genome.wustl.edu 37 7 151668119 151668119 + Missense_Mutation SNP G G A rs181262306 by1000genomes TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_145292.3 +1 validated p.E113K 0.000 151 0% 168 45.2% 0 - benign(0.054) tolerated(0.11) neutral(0.275) superfamily_Nucleotide-diphospho-sugar transferases GALNT11 63917 genome.wustl.edu 37 7 151802422 151802422 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_022087.2 +1 validated p.R227* 1.000 121 0% 163 50.9% 33 0% - - - HMMPfam_Glycos_transf_2,superfamily_Nucleotide-diphospho-sugar transferases MLL3 58508 genome.wustl.edu 37 7 151917728 151917728 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_170606.2 -1 reviewed p.K1198Q 1.000 321 0.3% 413 41.2% 2 50% probably_damaging(0.999) - - NULL MLL3 58508 genome.wustl.edu 37 7 151960108 151960108 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_170606.2 -1 reviewed p.K431R 1.000 155 0% 229 44.5% 16 50% possibly_damaging(0.722) - - HMMSmart_SM00184,HMMSmart_SM00249,superfamily_FYVE/PHD zinc finger,PatternScan_ZF_PHD_1,HMMPfam_PHD MLL3 58508 genome.wustl.edu 37 7 152055755 152055755 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_170606.2 -1 reviewed p.R56Q 1.000 326 0% 332 42.8% 2 50% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL LOC100132707 100132707 genome.wustl.edu 37 7 154739407 154739407 + RNA SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NR_024476.1 +1 validated NULL 0.000 15 0% 14 35.7% 3 0% - - - - PAXIP1 22976 genome.wustl.edu 37 7 154767529 154767529 + Silent SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_007349.3 -1 reviewed p.Q317 0.079 158 0% 157 38.2% 3 100% - - - NULL CNPY1 285888 genome.wustl.edu 37 7 155301633 155301633 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001103176.1 -1 validated p.K34Q 0.879 110 0% 151 41.7% 0 - benign(0.255) tolerated(0.52) neutral(0.035) NULL RBM33 155435 genome.wustl.edu 37 7 155530841 155530841 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_053043.2 +1 validated p.S494N 0.989 316 0% 386 44.8% 25 48% unknown(0) tolerated(0.39) - NULL SHH 6469 genome.wustl.edu 37 7 155596251 155596251 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000193.2 -1 reviewed p.R244 0.997 15 0.000 7 0.571 0 - - - - HMMPfam_Hint,HMMSmart_HintN,superfamily_SSF51294 PTPRN2 5799 genome.wustl.edu 37 7 157341694 157341694 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002847.3 -1 reviewed p.I974 1.000 130 0% 177 50.8% 2 0% - - - HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II PTPRN2 5799 genome.wustl.edu 37 7 158282442 158282442 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002847.3 -1 reviewed p.E50K 0.827 13 0% 19 42.1% 0 - unknown(0) tolerated(0.24) - NULL FBXO25 26260 genome.wustl.edu 37 8 401290 401290 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_183421.1 +1 reviewed p.P166H 1.000 209 0% 280 16.1% 15 0% probably_damaging(0.993) tolerated(0.13) deleterious(0.703) NULL DLGAP2 9228 genome.wustl.edu 37 8 1645405 1645405 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004745.3 +1 reviewed p.F883 0.950 19 0% 15 60% 0 - - - - HMMPfam_GKAP ARHGEF10 9639 genome.wustl.edu 37 8 1851515 1851515 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014629.2 +1 reviewed p.L573 0.958 143 0% 139 41% 7 28.5% - - - HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_DH-domain MYOM2 9172 genome.wustl.edu 37 8 2000389 2000389 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003970.2 +1 validated p.R74Q 0.248 92 0% 112 50.9% 0 - possibly_damaging(0.865) tolerated(0.2) neutral(0.384) NULL MYOM2 9172 genome.wustl.edu 37 8 2092810 2092810 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003970.2 +1 validated p.V1435M 1.000 42 0% 52 48.1% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_I-set,superfamily_SSF48726 CSMD1 64478 genome.wustl.edu 37 8 3265591 3265591 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_033225.5 -1 validated p.Q635R 1.000 136 0% 177 47.5% 0 - probably_damaging(0.98) tolerated(0.1) deleterious(0.710) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain CSMD1 64478 genome.wustl.edu 37 8 3326298 3326298 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_033225.5 -1 validated p.Q500H 1.000 108 0.9% 131 47.3% 0 - probably_damaging(0.999) tolerated(0.07) deleterious(0.809) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain CSMD1 64478 genome.wustl.edu 37 8 3855460 3855460 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_033225.5 -1 validated p.F261L 0.963 106 0% 144 23.6% 0 - benign(0.008) tolerated(0.11) neutral(0.272) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain CSMD1 64478 genome.wustl.edu 37 8 3855510 3855510 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_033225.5 -1 validated p.T245A 1.000 119 0% 177 36.7% 0 - probably_damaging(0.989) tolerated(0.29) deleterious(0.469) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain CSMD1 64478 genome.wustl.edu 37 8 4494976 4494976 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_033225.5 -1 validated p.T64A 1.000 142 0% 174 45.4% 0 - benign(0.004) tolerated(1) - HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain DEFB107A 245910 genome.wustl.edu 37 8 7673088 7673088 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001037668.1 -1 reviewed p.I21M 0.638 577 0% 675 21% 0 - benign(0.278) deleterious(0.04) neutral(0.379) NULL MFHAS1 9258 genome.wustl.edu 37 8 8748537 8748537 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004225.2 -1 reviewed p.R678* 0.009 66 0% 103 51.5% 13 53.8% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases,superfamily_Polo-box domain PPP1R3B 79660 genome.wustl.edu 37 8 8998916 8998916 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024607.2 -1 validated p.F82 0.231 124 0% 153 22.9% 8 0% - - - NULL SLC35G5 83650 genome.wustl.edu 37 8 11189075 11189075 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_054028.1 +1 reviewed p.L154I 0.992 117 0% 158 47.5% 2 50% probably_damaging(0.987) tolerated(0.29) neutral(0.466) HMMPfam_DUF6,superfamily_SSF103481 BLK 640 genome.wustl.edu 37 8 11412358 11412358 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001715.2 +1 validated p.I193 0.785 31 0% 47 40.4% 0 - - - - HMMPfam_SH2,HMMSmart_SM00252,superfamily_SH2 domain ENSG00000205879 0 genome.wustl.edu 37 8 12031932 12031932 + Nonsense_Mutation SNP G G A rs2898323 TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000382200 -1 known p.R133* 0.007 242 0% 303 19.1% 0 - - - - NULL ENSG00000205879 0 genome.wustl.edu 37 8 12031964 12031964 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000382200 -1 known p.S122F 0.002 251 0% 283 17.7% 1 0% - - - NULL OR7E8P 346708 genome.wustl.edu 37 8 12542102 12542102 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000317826 -1 known p.K195N 0.003 231 0% 397 44.8% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 DLC1 10395 genome.wustl.edu 37 8 12946138 12946138 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_182643.2 -1 reviewed p.R1384C 1.000 137 0% 210 36.7% 2 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_START,HMMSmart_SM00234,superfamily_Bet v1-like C8orf48 157773 genome.wustl.edu 37 8 13424580 13424580 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001007090.2 +1 validated p.N27T 0.001 62 0% 93 45.2% 0 - benign(0.001) tolerated(0.37) neutral(0.019) NULL C8orf48 157773 genome.wustl.edu 37 8 13424891 13424891 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001007090.2 +1 validated p.N131H 0.994 119 0% 159 45.9% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL MSR1 4481 genome.wustl.edu 37 8 16035394 16035394 + Splice_Site SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_138715.2 -1 reviewed e1+1 0.994 106 0% 160 40% 0 - - - - - SLC7A2 6542 genome.wustl.edu 37 8 17409284 17409284 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003046.5 +1 validated p.R322W 1.000 392 0% 538 45.9% 0 - probably_damaging(0.996) deleterious(0.01) deleterious(0.867) HMMPfam_AA_permease SLC7A2 6542 genome.wustl.edu 37 8 17412194 17412194 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001008539.3 +1 validated p.S394L 1.000 232 0% 291 47.8% 5 20% probably_damaging(0.989) tolerated(0.05) deleterious(0.785) HMMPfam_AA_permease MTUS1 57509 genome.wustl.edu 37 8 17504527 17504527 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001001924.2 -1 reviewed p.L1188W 0.023 343 0% 432 41.9% 14 50% probably_damaging(1) deleterious(0) deleterious(0.945) NULL MTUS1 57509 genome.wustl.edu 37 8 17612005 17612005 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001001924.2 -1 reviewed p.V438I 0.000 157 0% 162 42% 5 60% benign(0.073) tolerated(0.34) neutral(0.028) NULL PCM1 5108 genome.wustl.edu 37 8 17871496 17871496 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006197.3 +1 validated p.K1845N 0.999 167 0% 158 19% 33 15.1% benign(0.025) deleterious(0.05) neutral(0.346) NULL ASAH1 427 genome.wustl.edu 37 8 17927368 17927368 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004315.4 -1 reviewed p.S95Y 0.018 309 0% 390 49.5% 138 39.8% benign(0.002) tolerated(0.29) neutral(0.029) NULL NAT1 9 genome.wustl.edu 37 8 18080021 18080021 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000662.5 +1 reviewed p.E155D 0.014 104 0% 132 41.7% 18 16.6% benign(0) tolerated(0.25) neutral(0.037) HMMPfam_Acetyltransf_2,superfamily_SSF54001 INTS10 55174 genome.wustl.edu 37 8 19684059 19684059 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018142.2 +1 validated p.E377* 1.000 237 0% 280 43.2% 12 16.6% - - - NULL LPL 4023 genome.wustl.edu 37 8 19809333 19809333 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000311322 +1 known p.K101N 0.982 196 0% 270 41.9% 7 0% benign(0.19) tolerated(0.15) neutral(0.259) HMMPfam_Lipase,superfamily_alpha/beta-Hydrolases LPL 4023 genome.wustl.edu 37 8 19813470 19813470 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000311322 +1 known p.E298D 0.923 137 0% 173 45.7% 2 0% benign(0.001) tolerated(0.47) neutral(0.011) HMMPfam_Lipase,superfamily_alpha/beta-Hydrolases XPO7 23039 genome.wustl.edu 37 8 21827726 21827726 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001100161.1 +1 validated p.L111V 1.000 183 0% 245 11.8% 49 18.3% benign(0.33) tolerated(0.09) neutral(0.400) superfamily_ARM repeat XPO7 23039 genome.wustl.edu 37 8 21832255 21832255 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001100161.1 +1 validated p.I198 1.000 423 0.2% 604 12.7% 30 13.3% - - - superfamily_ARM repeat PPP3CC 5533 genome.wustl.edu 37 8 22390489 22390489 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005605.3 +1 provisional p.P427S 1.000 59 0% 83 48.2% 13 38.4% probably_damaging(1) deleterious(0.02) deleterious(0.883) superfamily_SSF56300 RHOBTB2 23221 genome.wustl.edu 37 8 22864912 22864912 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015178.2 +1 validated p.V385A 1.000 38 0% 48 10.4% 14 0% benign(0) tolerated(1) - HMMSmart_BTB,superfamily_BTB/POZ_fold TNFRSF10C 8794 genome.wustl.edu 37 8 22969275 22969275 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003841.2 +1 reviewed p.P35S 0.001 135 0% 175 45.7% 1 0% probably_damaging(0.992) - - NULL ADAM7 8756 genome.wustl.edu 37 8 24323245 24323245 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000380789 +1 known p.E116K 0.957 279 0% 277 38.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pep_M12B_propep DOCK5 80005 genome.wustl.edu 37 8 25149670 25149670 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024940.6 +1 validated p.K151T 1.000 96 0% 122 10.7% 4 25% probably_damaging(0.957) tolerated(0.13) deleterious(0.653) NULL DOCK5 80005 genome.wustl.edu 37 8 25253089 25253089 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024940.6 +1 validated p.E1520K 1.000 57 0% 90 46.7% 4 0% probably_damaging(0.988) deleterious(0) deleterious(0.882) NULL PPP2R2A 5520 genome.wustl.edu 37 8 26196414 26196414 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002717.3 +1 reviewed p.I31L 1.000 176 0% 223 48% 4 100% probably_damaging(0.974) deleterious(0.02) deleterious(0.799) HMMSmart_SM00320,superfamily_WD40 repeat-like DPYSL2 1808 genome.wustl.edu 37 8 26441361 26441361 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001386.4 +1 validated p.E59K 1.000 116 0% 181 40.3% 8 0% benign(0.099) deleterious(0) neutral(0.452) superfamily_Composite domain of metallo-dependent hydrolases PTK2B 2185 genome.wustl.edu 37 8 27287616 27287616 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004103.3 +1 reviewed p.F186 1.000 127 0% 152 38.8% 4 50% - - - HMMPfam_FERM_M,superfamily_Second domain of FERM,HMMSmart_SM00295 PTK2B 2185 genome.wustl.edu 37 8 27296913 27296913 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004103.3 +1 reviewed p.F611S 1.000 74 0% 94 33% 4 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) PBK 55872 genome.wustl.edu 37 8 27678168 27678168 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018492.2 -1 reviewed p.S170Y 1.000 196 0% 215 44.7% 4 0% probably_damaging(1) deleterious(0) deleterious(0.945) PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,HMMPfam_Pkinase SCARA5 286133 genome.wustl.edu 37 8 27729483 27729483 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_173833.4 -1 provisional p.E486K 1.000 64 0% 105 46.7% 1 0% possibly_damaging(0.837) deleterious(0) deleterious(0.764) HMMPfam_SRCR,HMMSmart_SM00202,superfamily_SRCR-like C8orf80 389643 genome.wustl.edu 37 8 27886875 27886875 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001010906.1 -1 provisional p.D688Y 0.998 141 0% 186 45.7% 0 - probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL FBXO16 157574 genome.wustl.edu 37 8 28321248 28321248 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_172366.2 -1 reviewed p.R75* 0.652 185 0% 193 17.1% 2 0% - - - NULL EXTL3 2137 genome.wustl.edu 37 8 28574876 28574876 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001440.2 +1 provisional p.I434V 0.999 45 0% 57 52.6% 15 46.6% benign(0.001) tolerated(0.13) neutral(0.253) HMMPfam_Exostosin EXTL3 2137 genome.wustl.edu 37 8 28575316 28575316 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001440.2 +1 provisional p.T580 0.034 57 0% 64 51.6% 18 44.4% - - - NULL KIF13B 23303 genome.wustl.edu 37 8 28989949 28989949 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015254.3 -1 validated p.E940K 1.000 206 0% 251 41.8% 7 28.5% probably_damaging(0.982) tolerated(0.08) deleterious(0.726) NULL TMEM66 51669 genome.wustl.edu 37 8 29921413 29921413 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016127.4 -1 provisional p.R337 1.000 380 0% 437 43% 208 51.4% unknown(0) - - HMMPfam_DUF1183 MBOAT4 619373 genome.wustl.edu 37 8 29990213 29990213 + Missense_Mutation SNP C C T rs146255946 TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001100916.1 -1 validated p.R185Q 0.009 75 0% 89 42.7% 0 - benign(0.11) tolerated(0.25) neutral(0.045) HMMPfam_MBOAT TEX15 56154 genome.wustl.edu 37 8 30704222 30704222 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_031271.3 -1 validated p.P771Q 1.000 128 0% 150 43.3% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL TEX15 56154 genome.wustl.edu 37 8 30705014 30705014 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_031271.3 -1 validated p.S507F 0.001 383 0% 380 41.8% 0 - benign(0.002) tolerated(0.81) neutral(0.001) NULL TEX15 56154 genome.wustl.edu 37 8 30706317 30706317 + Silent SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_031271.3 -1 validated p.L73 0.040 347 0% 468 46.2% 0 - - - - NULL PURG 29942 genome.wustl.edu 37 8 30889580 30889580 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_013357.2 -1 reviewed p.I240T 0.999 74 0% 97 45.4% 1 0% probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_PurA,HMMSmart_SM00712 NRG1 3084 genome.wustl.edu 37 8 32617767 32617767 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_013956.3 +1 reviewed p.I376L 0.013 51 0% 51 52.9% 0 - benign(0) tolerated(0.52) neutral(0.009) HMMPfam_Neuregulin NRG1 3084 genome.wustl.edu 37 8 32621436 32621436 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_013956.3 +1 reviewed p.L485R 0.092 107 0% 145 46.2% 0 - probably_damaging(0.997) tolerated(0.73) neutral(0.468) HMMPfam_Neuregulin KCNU1 157855 genome.wustl.edu 37 8 36793138 36793138 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001031836.2 +1 validated p.F1050L 0.000 149 0% 224 43.3% 0 - benign(0.033) tolerated(0.39) neutral(0.018) NULL GPR124 25960 genome.wustl.edu 37 8 37693214 37693214 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032777.8 +1 validated p.N659T 1.000 32 0% 34 41.2% 20 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL RAB11FIP1 80223 genome.wustl.edu 37 8 37734802 37734802 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001002814.2 -1 validated p.K213N 1.000 282 0% 393 40.7% 17 29.4% possibly_damaging(0.602) deleterious(0.01) deleterious(0.614) NULL ASH2L 9070 genome.wustl.edu 37 8 37972509 37972509 + Silent SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004674.3 +1 validated p.L256 0.975 135 0% 200 47.5% 12 58.3% - - - NULL LSM1 27257 genome.wustl.edu 37 8 38021327 38021327 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014462.1 -1 provisional p.Q88R 1.000 147 0.7% 192 42.7% 28 46.4% benign(0.004) tolerated(0.54) neutral(0.007) NULL TACC1 6867 genome.wustl.edu 37 8 38677639 38677639 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006283.2 +1 reviewed p.E293* 0.003 44 0% 62 41.9% 1 0% - - - NULL GINS4 84296 genome.wustl.edu 37 8 41397471 41397471 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032336.2 +1 validated p.V144 0.013 63 0% 114 46.5% 12 41.6% - - - HMMPfam_Sld5 ANK1 286 genome.wustl.edu 37 8 41550298 41550298 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001142446.1 -1 reviewed p.F1283 1.000 56 0% 79 41.8% 0 - - - - NULL KAT6A 7994 genome.wustl.edu 37 8 41791546 41791546 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001099412.1 -1 validated p.E1398K 1.000 231 0% 285 18.2% 11 0% possibly_damaging(0.916) tolerated(0.29) neutral(0.396) NULL IKBKB 3551 genome.wustl.edu 37 8 42179654 42179654 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001556.1 +1 validated p.V607 0.986 142 0% 141 49.6% 28 53.5% - - - NULL C8orf40 114926 genome.wustl.edu 37 8 42403849 42403849 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001135674.1 +1 validated p.T62N 0.984 239 0% 296 41.2% 47 38.2% benign(0) tolerated(0.18) neutral(0.056) NULL CHRNB3 1142 genome.wustl.edu 37 8 42587271 42587271 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000749.3 +1 validated p.S274Y 1.000 231 0% 324 47.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Neur_chan_memb,superfamily_Neurotransmitter-gated ion-channel transmembrane pore CHRNA6 8973 genome.wustl.edu 37 8 42611573 42611573 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004198.2 -1 provisional p.L257I 1.000 251 0% 282 43.3% 0 - possibly_damaging(0.86) deleterious(0.02) deleterious(0.716) HMMPfam_Neur_chan_memb,superfamily_Neurotransmitter-gated ion-channel transmembrane pore HGSNAT 138050 genome.wustl.edu 37 8 43047494 43047494 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152419.2 +1 reviewed p.N433T 1.000 191 0% 185 47.6% 31 54.8% probably_damaging(0.965) deleterious(0.01) deleterious(0.812) HMMPfam_DUF2261 ENSG00000215179 0 genome.wustl.edu 37 8 47885452 47885452 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000399732 -1 known p.R260I 1.000 127 0% 152 36.8% 0 - - - - HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase PRKDC 5591 genome.wustl.edu 37 8 48695146 48695146 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000314191 -1 known p.A3729V 0.535 22 0% 23 30.4% 266 39.8% benign(0) tolerated(0.27) neutral(0.034) superfamily_Protein kinase-like (PK-like) PRKDC 5591 genome.wustl.edu 37 8 48766729 48766729 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000314191 -1 known p.N2269D 1.000 244 0% 299 39.1% 8 25% probably_damaging(1) tolerated(0.11) deleterious(0.772) superfamily_ARM repeat PRKDC 5591 genome.wustl.edu 37 8 48798608 48798608 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000314191 -1 known p.Y1557S 1.000 128 0% 181 36.5% 12 41.6% probably_damaging(0.996) tolerated(0.11) deleterious(0.733) NULL PRKDC 5591 genome.wustl.edu 37 8 48811087 48811087 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000314191 -1 known p.R1136H 1.000 214 0% 279 44.8% 5 80% benign(0.299) deleterious(0.05) neutral(0.438) superfamily_ARM repeat ENSG00000252710 0 genome.wustl.edu 37 8 49220551 49220551 + RNA SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000516901 -1 novel NULL 0.009 50 0% 48 50% 0 - - - - - PXDNL 137902 genome.wustl.edu 37 8 52284496 52284496 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_144651.4 -1 validated p.D1280N 0.990 127 0% 138 37% 0 - benign(0.007) tolerated(0.33) neutral(0.024) superfamily_Heme-dependent peroxidases LYPLA1 10434 genome.wustl.edu 37 8 54963582 54963582 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006330.2 -1 reviewed p.S210L 1.000 218 0% 264 47% 54 46.2% probably_damaging(0.96) deleterious(0) deleterious(0.848) HMMPfam_Abhydrolase_2,superfamily_alpha/beta-Hydrolases RP1 6101 genome.wustl.edu 37 8 55540686 55540686 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006269.1 +1 reviewed p.S1415N 0.000 85 0% 120 52.5% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL RP1 6101 genome.wustl.edu 37 8 55541108 55541108 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006269.1 +1 reviewed p.E1556* 0.673 145 0% 120 30.8% 0 - - - - NULL CHCHD7 79145 genome.wustl.edu 37 8 57129894 57129894 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001011668.1 +1 validated p.S78Y 0.917 174 0% 237 44.7% 7 42.8% probably_damaging(0.983) deleterious(0.01) deleterious(0.835) NULL SDR16C6P 442388 genome.wustl.edu 37 8 57307732 57307732 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000444271 -1 known p.L65I 0.998 283 0% 369 40.1% 0 - - - - HMMPfam_adh_short,superfamily_NAD(P)-binding Rossmann-fold domains CA8 767 genome.wustl.edu 37 8 61178561 61178561 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004056.4 -1 reviewed p.E114K 1.000 167 0% 211 47.9% 40 40% possibly_damaging(0.918) deleterious(0) deleterious(0.813) HMMPfam_Carb_anhydrase,superfamily_Carbonic anhydrase ENSG00000237810 0 genome.wustl.edu 37 8 63056735 63056735 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000433538 -1 known p.V160 0.994 57 0% 61 49.2% 1 0% - - - HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase CYP7B1 9420 genome.wustl.edu 37 8 65528458 65528458 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004820.3 -1 reviewed p.D214Y 1.000 133 0% 196 44.4% 0 - probably_damaging(0.981) deleterious(0.01) deleterious(0.831) superfamily_Cytochrome P450 MTFR1 9650 genome.wustl.edu 37 8 66620283 66620283 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000424808 +1 known p.E324* 0.001 97 0% 119 42.9% 0 - - - - NULL C8orf44 56260 genome.wustl.edu 37 8 67591962 67591962 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_019607.1 +1 provisional p.E85* 0.022 279 0% 266 35% 0 - - - - NULL SGK3 23678 genome.wustl.edu 37 8 67726120 67726120 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001033578.1 +1 reviewed p.E96K 1.000 168 0% 190 43.7% 1 100% possibly_damaging(0.887) tolerated(0.06) deleterious(0.669) HMMPfam_PX,HMMSmart_SM00312,superfamily_PX domain C8orf45 157777 genome.wustl.edu 37 8 67786473 67786473 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000415737 +1 known p.T33M 0.908 104 1% 111 43.2% 0 - unknown(0) - - NULL C8orf45 157777 genome.wustl.edu 37 8 67786682 67786682 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_173518.4 +1 validated p.V72 0.985 299 0% 340 42.6% 0 - - - - NULL COPS5 10987 genome.wustl.edu 37 8 67971645 67971645 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006837.2 -1 reviewed p.L60S 1.000 177 0% 232 47.8% 137 44.5% probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_Mov34,HMMSmart_JAB_MPN,superfamily_SSF102712 CSPP1 79848 genome.wustl.edu 37 8 68044264 68044264 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001077204.1 +1 validated p.P622 1.000 284 0% 396 44.4% 2 0% - - - NULL ARFGEF1 10565 genome.wustl.edu 37 8 68139756 68139756 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006421.3 -1 reviewed p.E1223D 0.991 138 0% 185 45.4% 4 50% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_DUF1981,superfamily_ARM-type_fold ARFGEF1 10565 genome.wustl.edu 37 8 68200227 68200227 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006421.3 -1 reviewed p.Q330H 1.000 438 0.2% 643 22.6% 21 28.5% benign(0.037) deleterious(0.04) neutral(0.351) superfamily_ARM-type_fold ARFGEF1 10565 genome.wustl.edu 37 8 68255469 68255469 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006421.3 -1 reviewed p.K18N 1.000 130 0% 165 53.3% 2 50% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_ARM-type_fold CPA6 57094 genome.wustl.edu 37 8 68421854 68421854 + Splice_Site SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020361.4 -1 validated e5-1 1.000 183 0% 207 42.5% 0 - - - - - C8orf34 116328 genome.wustl.edu 37 8 69633640 69633640 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_052958.1 +1 predicted p.E347K 0.997 523 0% 566 18.4% 2 0% benign(0.097) tolerated(0.19) neutral(0.057) NULL LOC100288066 100288066 genome.wustl.edu 37 8 70585088 70585088 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_002342855.1 +1 model p.F72 0.350 53 0% 62 48.4% 0 - - - - NULL SLCO5A1 81796 genome.wustl.edu 37 8 70744801 70744801 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_030958.2 -1 reviewed p.K36N 1.000 21 0% 28 35.7% 0 - possibly_damaging(0.946) deleterious(0) deleterious(0.835) NULL NCOA2 10499 genome.wustl.edu 37 8 71044133 71044133 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006540.2 -1 validated p.R1088Q 1.000 183 0% 238 45.4% 8 50% probably_damaging(0.99) tolerated(0.05) deleterious(0.787) superfamily_Nuc_recept_coact,HMMPfam_Nuc_rec_co-act XKR9 389668 genome.wustl.edu 37 8 71646532 71646532 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001011720.1 +1 provisional p.G332V 1.000 218 0% 305 38.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_XK-related TRPA1 8989 genome.wustl.edu 37 8 72959429 72959429 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_007332.2 -1 reviewed p.F640C 0.379 208 0% 248 37.5% 0 - benign(0.001) tolerated(0.15) neutral(0.241) superfamily_Ankyrin repeat TRPA1 8989 genome.wustl.edu 37 8 72969984 72969984 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_007332.2 -1 reviewed p.S354Y 1.000 245 0% 272 42.3% 0 - probably_damaging(0.993) deleterious(0.02) deleterious(0.833) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat RDH10 157506 genome.wustl.edu 37 8 74231354 74231354 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_172037.3 +1 validated p.T183 0.814 308 0% 381 50.9% 78 28.2% - - - HMMPfam_adh_short,superfamily_NAD(P)-binding Rossmann-fold domains TCEB1 6921 genome.wustl.edu 37 8 74858960 74858960 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005648.2 -1 reviewed p.R82C 1.000 253 0% 361 48.2% 256 46.4% benign(0.004) tolerated(0.05) neutral(0.345) HMMSmart_SM00512,superfamily_POZ domain JPH1 56704 genome.wustl.edu 37 8 75227154 75227154 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020647.2 -1 reviewed p.E361* 1.000 124 0% 123 35.8% 1 100% - - - NULL ZFHX4 79776 genome.wustl.edu 37 8 77616422 77616422 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024721.4 +1 validated p.E33D 1.000 80 0% 120 46.7% 0 - possibly_damaging(0.69) tolerated(0.73) neutral(0.248) NULL ZFHX4 79776 genome.wustl.edu 37 8 77616914 77616914 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024721.4 +1 validated p.I197 1.000 128 0% 168 38.1% 0 - - - - NULL ZFHX4 79776 genome.wustl.edu 37 8 77761302 77761302 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024721.4 +1 validated p.E1150* 1.000 127 0% 131 42% 0 - - - - NULL ZFHX4 79776 genome.wustl.edu 37 8 77765032 77765032 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024721.4 +1 validated p.L1914I 1.000 62 0% 60 21.7% 0 - benign(0.076) - - PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZFHX4 79776 genome.wustl.edu 37 8 77766678 77766678 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024721.4 +1 validated p.L2462 1.000 187 0% 179 41.3% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZFHX4 79776 genome.wustl.edu 37 8 77767563 77767563 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024721.4 +1 validated p.E2757D 1.000 61 0% 62 17.7% 0 - benign(0.156) - - NULL ZFHX4 79776 genome.wustl.edu 37 8 77775616 77775616 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024721.4 +1 validated p.I3177 1.000 354 0% 440 38.4% 0 - - - - NULL ZFHX4 79776 genome.wustl.edu 37 8 77775785 77775785 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024721.4 +1 validated p.P3234T 1.000 125 0% 175 41.1% 0 - probably_damaging(0.995) - - NULL ZFHX4 79776 genome.wustl.edu 37 8 77776779 77776779 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024721.4 +1 validated p.R3565Q 1.000 84 0% 89 18% 0 - probably_damaging(0.999) - - NULL PEX2 5828 genome.wustl.edu 37 8 77896042 77896042 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000318.2 -1 reviewed p.R125* 1.000 170 0% 197 42.6% 23 43.4% - - - HMMPfam_Pex2_Pex12 ZC2HC1A 51101 genome.wustl.edu 37 8 79598733 79598733 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016010.2 +1 validated p.R81I 1.000 134 0% 134 39.6% 1 0% probably_damaging(0.992) deleterious(0) deleterious(0.892) NULL TPD52 7163 genome.wustl.edu 37 8 80976724 80976724 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001025252.1 -1 validated p.E82* 0.988 209 0% 231 48.9% 30 30% - - - HMMPfam_TPD52 PMP2 5375 genome.wustl.edu 37 8 82357140 82357140 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002677.3 -1 validated p.R53Q 1.000 496 0.4% 657 44.4% 0 - probably_damaging(0.98) tolerated(0.07) deleterious(0.743) HMMPfam_Lipocalin,superfamily_Lipocalins FABP12 646486 genome.wustl.edu 37 8 82439299 82439299 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001105281.1 -1 provisional p.E102* 0.996 252 0% 354 44.6% 0 - - - - HMMPfam_Lipocalin,superfamily_Lipocalins FABP12 646486 genome.wustl.edu 37 8 82439350 82439350 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001105281.1 -1 provisional p.V85I 0.033 172 0% 266 43.6% 0 - benign(0.002) tolerated(0.53) neutral(0.007) HMMPfam_Lipocalin,superfamily_Lipocalins FABP12 646486 genome.wustl.edu 37 8 82441762 82441762 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001105281.1 -1 provisional p.K53Q 0.999 278 0% 369 42.8% 0 - possibly_damaging(0.76) tolerated(0.06) deleterious(0.604) HMMPfam_Lipocalin,superfamily_Lipocalins SNX16 64089 genome.wustl.edu 37 8 82715429 82715429 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_022133.3 -1 reviewed p.R239H 0.974 591 0.2% 658 44.7% 2 100% benign(0.001) tolerated(0.51) neutral(0.009) NULL RALYL 138046 genome.wustl.edu 37 8 85441628 85441628 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001100391.1 +1 validated p.F37L 1.000 197 0% 223 27.4% 0 - possibly_damaging(0.731) deleterious(0) deleterious(0.712) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD LRRCC1 85444 genome.wustl.edu 37 8 86027783 86027783 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_033402.4 +1 validated p.Q298H 1.000 102 0% 135 20% 1 0% probably_damaging(0.996) deleterious(0.05) deleterious(0.807) NULL LRRCC1 85444 genome.wustl.edu 37 8 86044098 86044098 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_033402.4 +1 validated p.E624* 1.000 284 0% 355 39.7% 0 - - - - NULL E2F5 1875 genome.wustl.edu 37 8 86115490 86115490 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001951.3 +1 reviewed p.R169I 1.000 105 0% 100 42% 3 66.6% possibly_damaging(0.636) tolerated(0.26) neutral(0.257) NULL E2F5 1875 genome.wustl.edu 37 8 86119719 86119719 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001951.3 +1 reviewed p.E204* 1.000 121 0% 139 52.5% 6 50% - - - NULL WWP1 11059 genome.wustl.edu 37 8 87442975 87442975 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_007013.3 +1 validated p.G461D 1.000 216 0% 270 48.5% 11 63.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_WW,HMMSmart_SM00456,superfamily_WW domain WWP1 11059 genome.wustl.edu 37 8 87447886 87447886 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_007013.3 +1 validated p.K568Q 1.000 245 0% 386 46.4% 29 27.5% probably_damaging(0.999) tolerated(0.07) deleterious(0.809) superfamily_Hect E3 ligase catalytic domain OTUD6B 51633 genome.wustl.edu 37 8 92097057 92097057 + Silent SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016023.3 +1 validated p.V311 1.000 184 0% 252 39.7% 3 0% - - - superfamily_Cysteine proteinases SLC26A7 115111 genome.wustl.edu 37 8 92330516 92330516 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_134266.1 +1 reviewed p.T184A 1.000 178 0% 243 37.4% 1 100% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_Sulfate_transp RUNX1T1 862 genome.wustl.edu 37 8 92972720 92972720 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_175634.1 -1 reviewed p.A522V 1.000 48 0% 72 44.4% 4 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-MYND,PatternScan_ZF_MYND_1 RBM12B 389677 genome.wustl.edu 37 8 94748444 94748444 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_203390.2 -1 validated p.K65N 1.000 278 0% 311 48.9% 1 100% probably_damaging(1) tolerated(0.16) deleterious(0.559) HMMSmart_SM00360,superfamily_RNA-binding domain RBD TMEM67 91147 genome.wustl.edu 37 8 94784853 94784853 + Silent SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_153704.5 +1 reviewed p.L230 1.000 262 0% 335 46.9% 3 66.6% - - - HMMPfam_Meckelin GEM 2669 genome.wustl.edu 37 8 95272556 95272556 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005261.3 -1 reviewed p.S59F 1.000 163 0% 284 46.1% 7 0% possibly_damaging(0.835) deleterious(0.04) deleterious(0.667) NULL ESRP1 54845 genome.wustl.edu 37 8 95683795 95683795 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017697.3 +1 validated p.R450* 1.000 242 0% 343 43.1% 10 40% - - - HMMSmart_SM00360,superfamily_RNA-binding domain RBD ESRP1 54845 genome.wustl.edu 37 8 95686698 95686698 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017697.3 +1 validated p.R539* 1.000 159 0% 237 43.9% 11 36.3% - - - NULL INTS8 55656 genome.wustl.edu 37 8 95837290 95837290 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017864.2 +1 provisional p.E100D 1.000 192 0% 212 37.3% 6 50% possibly_damaging(0.787) deleterious(0.02) deleterious(0.677) NULL INTS8 55656 genome.wustl.edu 37 8 95844302 95844302 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017864.2 +1 provisional p.R218I 1.000 168 0% 183 48.6% 5 80% probably_damaging(0.998) tolerated(0.11) deleterious(0.746) NULL INTS8 55656 genome.wustl.edu 37 8 95888474 95888474 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017864.2 +1 provisional p.D930N 1.000 354 0% 439 42.1% 25 40% benign(0.43) tolerated(0.28) neutral(0.172) NULL PTDSS1 9791 genome.wustl.edu 37 8 97316363 97316363 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014754.1 +1 provisional p.S283Y 1.000 331 0.3% 443 35.9% 61 39.3% possibly_damaging(0.942) deleterious(0.01) deleterious(0.792) HMMPfam_PSS CPQ 10404 genome.wustl.edu 37 8 98078360 98078367 + Frame_Shift_Del DEL CAGCCCCT CAGCCCCT - novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 CAGCCCCT CAGCCCCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016134.2 +1 provisional p.P394fs 0.994:0.998:1.000:1.000:1.000:0.960:0.978:1.000 - - - - - - - - - superfamily_SSF53187 MATN2 4147 genome.wustl.edu 37 8 99047896 99047896 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002380.3 +1 reviewed p.T943A 1.000 72 0% 76 51.3% 0 - possibly_damaging(0.442) deleterious(0.03) deleterious(0.509) HMMPfam_Matrilin_ccoil STK3 6788 genome.wustl.edu 37 8 99718796 99718796 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006281.2 -1 validated p.E195* 1.000 198 0.5% 274 40.1% 1 0% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase VPS13B 157680 genome.wustl.edu 37 8 100108577 100108577 + Missense_Mutation SNP G G A rs61754110 TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017890.3 +1 reviewed p.R110H 1.000 148 0.7% 130 38.5% 6 50% benign(0.251) tolerated(0.42) neutral(0.040) NULL VPS13B 157680 genome.wustl.edu 37 8 100168838 100168838 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017890.3 +1 reviewed p.R692Q 1.000 214 0.5% 316 45.3% 4 25% benign(0.001) tolerated(0.88) - NULL VPS13B 157680 genome.wustl.edu 37 8 100443865 100443865 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017890.3 +1 reviewed p.W1061* 1.000 215 0% 259 46.7% 2 0% - - - NULL RGS22 26166 genome.wustl.edu 37 8 100975155 100975155 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015668.3 -1 validated p.L1223I 1.000 208 0% 282 41.1% 0 - probably_damaging(0.971) tolerated(0.05) deleterious(0.758) NULL RGS22 26166 genome.wustl.edu 37 8 100994300 100994300 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015668.3 -1 validated p.K1075N 1.000 187 0% 271 44.3% 1 0% probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_RGS,HMMSmart_SM00315,superfamily_Regulator of G-protein signaling RGS RGS22 26166 genome.wustl.edu 37 8 101014534 101014534 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015668.3 -1 validated p.R896* 0.861 277 0% 344 39% 1 0% - - - HMMSmart_SM00315,superfamily_Regulator of G-protein signaling RGS RGS22 26166 genome.wustl.edu 37 8 101054131 101054131 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015668.3 -1 validated p.S613P 0.011 214 0% 306 45.4% 0 - benign(0.001) tolerated(0.15) neutral(0.241) NULL SPAG1 6674 genome.wustl.edu 37 8 101232527 101232527 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003114.3 +1 reviewed p.F519C 1.000 241 0% 314 44.6% 1 0% probably_damaging(1) tolerated(0.09) deleterious(0.796) HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_Protein prenylyltransferase RNF19A 25897 genome.wustl.edu 37 8 101271084 101271084 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015435.3 -1 reviewed p.M739I 1.000 215 0.5% 216 44.4% 13 38.4% benign(0.13) deleterious(0.01) neutral(0.417) NULL RNF19A 25897 genome.wustl.edu 37 8 101281038 101281038 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015435.3 -1 reviewed p.G389D 1.000 116 0.9% 137 35% 16 31.2% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PABPC1 26986 genome.wustl.edu 37 8 101718929 101718929 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002568.3 -1 validated p.R518C 1.000 102 0% 107 37.4% 1469 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_PABC (PABP) domain PABPC1 26986 genome.wustl.edu 37 8 101730486 101730486 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002568.3 -1 validated p.M72I 1.000 87 0% 108 18.5% 406 15% probably_damaging(0.994) deleterious(0.01) deleterious(0.858) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD GRHL2 79977 genome.wustl.edu 37 8 102611287 102611287 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024915.3 +1 reviewed p.D336N 1.000 268 0% 314 41.7% 30 36.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_CP2 NCALD 83988 genome.wustl.edu 37 8 102701563 102701563 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001040624.1 -1 reviewed p.D186N 1.000 65 0% 99 42.4% 17 29.4% benign(0.033) tolerated(0.06) neutral(0.324) superfamily_EF-hand RRM2B 50484 genome.wustl.edu 37 8 103244465 103244465 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015713.4 -1 reviewed p.S39Y 1.000 244 0% 287 44.9% 3 33.3% possibly_damaging(0.922) deleterious(0) deleterious(0.816) HMMPfam_Ribonuc_red_sm,superfamily_Ferritin-like TM7SF4 81501 genome.wustl.edu 37 8 105361738 105361738 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_030788.2 +1 reviewed p.L320I 1.000 125 0% 137 21.2% 0 - probably_damaging(1) tolerated(0.22) deleterious(0.542) HMMPfam_DC_STAMP LRP12 29967 genome.wustl.edu 37 8 105509844 105509844 + Silent SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_013437.4 -1 reviewed p.G312 0.405 99 0% 85 36.5% 0 - - - - HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain OXR1 55074 genome.wustl.edu 37 8 107531294 107531294 + Silent SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018002.2 +1 validated p.E49 0.999 129 0% 195 42.1% 2 50% - - - NULL OXR1 55074 genome.wustl.edu 37 8 107695484 107695484 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018002.2 +1 validated p.E121K 1.000 245 0% 256 43.4% 9 55.5% probably_damaging(0.974) tolerated(0.1) deleterious(0.702) HMMSmart_SM00257,HMMPfam_LysM,superfamily_LysM domain OXR1 55074 genome.wustl.edu 37 8 107754520 107754520 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018002.2 +1 validated p.V769A 1.000 510 0% 593 42.2% 11 63.6% possibly_damaging(0.625) deleterious(0) deleterious(0.662) HMMPfam_TLD,HMMSmart_SM00584 ABRA 137735 genome.wustl.edu 37 8 107782410 107782410 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_139166.4 -1 validated p.P3 0.001 36 0% 21 61.9% 0 - - - - NULL PKHD1L1 93035 genome.wustl.edu 37 8 110401349 110401349 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_177531.4 +1 validated p.S222Y 0.779 452 0% 571 43.3% 1 0% benign(0.001) tolerated(0.32) neutral(0.024) HMMPfam_TIG,HMMSmart_SM00429,superfamily_E set domains PKHD1L1 93035 genome.wustl.edu 37 8 110437383 110437383 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_177531.4 +1 validated p.H923Y 1.000 150 0% 176 46.6% 0 - benign(0) tolerated(0.42) neutral(0.014) NULL PKHD1L1 93035 genome.wustl.edu 37 8 110455327 110455327 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_177531.4 +1 validated p.E1516* 1.000 201 0% 261 42.9% 2 100% - - - NULL PKHD1L1 93035 genome.wustl.edu 37 8 110492298 110492298 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_177531.4 +1 validated p.K3086T 0.888 239 0% 248 44.4% 0 - benign(0.001) tolerated(0.71) neutral(0.002) superfamily_Pectin lyase-like,HMMPfam_G8 SYBU 55638 genome.wustl.edu 37 8 110655107 110655107 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001099744.1 -1 validated p.R27W 1.000 156 0% 199 50.3% 4 50% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CSMD3 114788 genome.wustl.edu 37 8 113256680 113256680 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_198123.1 -1 validated p.E3449K 1.000 167 0% 227 41.9% 0 - probably_damaging(0.996) deleterious(0.02) deleterious(0.845) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain CSMD3 114788 genome.wustl.edu 37 8 113259259 113259259 + Silent SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_198123.1 -1 validated p.P3404 0.959 168 0% 233 52.4% 0 - - - - HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain CSMD3 114788 genome.wustl.edu 37 8 113317113 113317113 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_198123.1 -1 validated p.I2701 0.069 83 0% 159 53.5% 0 - - - - HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain CSMD3 114788 genome.wustl.edu 37 8 113347615 113347615 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_198123.1 -1 validated p.L2370I 1.000 185 0% 239 51% 0 - probably_damaging(0.998) tolerated(0.1) deleterious(0.761) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain CSMD3 114788 genome.wustl.edu 37 8 113516136 113516136 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_198123.1 -1 validated p.G1656* 1.000 560 0% 688 43.8% 0 - - - - HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain CSMD3 114788 genome.wustl.edu 37 8 113569027 113569027 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_198123.1 -1 validated p.R1400I 1.000 83 0% 106 32.1% 0 - probably_damaging(0.991) tolerated(0.05) deleterious(0.789) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain CSMD3 114788 genome.wustl.edu 37 8 113697959 113697959 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_198123.1 -1 validated p.P720S 1.000 67 0% 84 63.1% 0 - unknown(0) tolerated(0.54) - superfamily_Spermadhesin CUB domain CSMD3 114788 genome.wustl.edu 37 8 114031326 114031326 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_198123.1 -1 validated p.R334* 1.000 291 0% 396 38.6% 0 - - - - HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain TRPS1 7227 genome.wustl.edu 37 8 116426651 116426651 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014112.2 -1 reviewed p.L1162R 1.000 298 0% 336 43.5% 29 48.2% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL SLC30A8 169026 genome.wustl.edu 37 8 118175721 118175721 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_173851.2 +1 reviewed p.A261T 0.998 391 0% 404 42.1% 0 - benign(0.01) tolerated(0.39) neutral(0.017) HMMPfam_Cation_efflux ENPP2 5168 genome.wustl.edu 37 8 120602777 120602777 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006209.3 -1 reviewed p.R444I 1.000 241 0% 357 39.5% 13 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Phosphodiest,superfamily_Alkaline phosphatase-like ENPP2 5168 genome.wustl.edu 37 8 120631537 120631537 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006209.3 -1 reviewed p.S142 0.318 266 0% 291 41.2% 14 0% - - - HMMPfam_Somatomedin_B,HMMSmart_SM00201 COL14A1 7373 genome.wustl.edu 37 8 121210082 121210082 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_021110.1 +1 validated p.E209* 1.000 266 0.8% 331 42.3% 5 0% - - - HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like MTBP 27085 genome.wustl.edu 37 8 121463476 121463476 + Silent SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_022045.3 +1 provisional p.L113 0.999 369 0% 470 46.4% 0 - - - - NULL MTBP 27085 genome.wustl.edu 37 8 121473428 121473428 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_022045.3 +1 provisional p.E304* 0.998 408 0% 466 43.6% 1 0% - - - NULL MTBP 27085 genome.wustl.edu 37 8 121483158 121483158 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_022045.3 +1 provisional p.K382N 0.996 194 0% 288 40.3% 0 - possibly_damaging(0.753) tolerated(0.18) neutral(0.333) NULL HAS2 3037 genome.wustl.edu 37 8 122626853 122626853 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005328.2 -1 reviewed p.F385L 1.000 80 0% 112 48.2% 0 - possibly_damaging(0.465) tolerated(1) neutral(0.153) superfamily_SSF53448 WDR67 93594 genome.wustl.edu 37 8 124164165 124164165 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_145647.3 +1 validated p.L1063I 0.003 78 0% 111 45.9% 1 0% possibly_damaging(0.791) tolerated(0.2) neutral(0.345) NULL ZHX1 11244 genome.wustl.edu 37 8 124267554 124267554 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001017926.1 -1 reviewed p.E211D 0.841 161 0.6% 190 44.7% 1 0% benign(0.003) tolerated(0.61) neutral(0.004) NULL ATAD2 29028 genome.wustl.edu 37 8 124349940 124349940 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014109.3 -1 reviewed p.F992L 1.000 322 0.3% 401 46.1% 5 60% probably_damaging(1) tolerated(0.16) deleterious(0.559) HMMSmart_SM00297,superfamily_Bromodomain,superfamily_P-loop containing nucleoside triphosphate hydrolases ATAD2 29028 genome.wustl.edu 37 8 124351593 124351593 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014109.3 -1 reviewed p.L938I 1.000 320 0.3% 312 41.3% 1 100% possibly_damaging(0.927) tolerated(0.14) deleterious(0.625) superfamily_P-loop containing nucleoside triphosphate hydrolases FAM91A1 157769 genome.wustl.edu 37 8 124796788 124796788 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_144963.2 +1 validated p.S261* 1.000 273 0% 305 43.9% 2 0% - - - NULL RNF139 11236 genome.wustl.edu 37 8 125499628 125499628 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_007218.3 +1 reviewed p.D580Y 1.000 109 0.9% 175 10.3% 59 18.6% probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMSmart_SM00184,HMMSmart_SM00744,HMMPfam_zf-C3HC4,superfamily_RING/U-box KIAA0196 9897 genome.wustl.edu 37 8 126094651 126094651 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014846.3 -1 reviewed p.L131F 1.000 214 0% 242 46.3% 10 60% probably_damaging(0.996) tolerated(0.38) deleterious(0.479) HMMPfam_Strumpellin GSDMC 56169 genome.wustl.edu 37 8 130764132 130764132 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_031415.2 -1 validated p.E298K 0.000 88 0% 94 48.9% 1 0% benign(0.075) tolerated(1) neutral(0.005) HMMPfam_Gasdermin ASAP1 50807 genome.wustl.edu 37 8 131226910 131226910 + Silent SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018482.2 -1 validated p.L99 0.999 152 0% 176 13.1% 2 0% - - - NULL ADCY8 114 genome.wustl.edu 37 8 131922048 131922048 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001115.2 -1 reviewed p.L516 1.000 229 0% 337 50.4% 0 - - - - HMMPfam_Guanylate_cyc,HMMSmart_CYCc,superfamily_A/G_cyclase EFR3A 23167 genome.wustl.edu 37 8 132991256 132991256 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015137.3 +1 validated p.R497* 0.042 135 0% 152 45.4% 6 0% - - - NULL HHLA1 10086 genome.wustl.edu 37 8 133101847 133101847 + Splice_Site SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001145095.1 -1 provisional e7-1 1.000 205 0.5% 275 43.6% 0 - - - - - KCNQ3 3786 genome.wustl.edu 37 8 133153455 133153455 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004519.2 -1 reviewed p.K462N 1.000 255 0% 332 40.4% 0 - possibly_damaging(0.914) deleterious(0.01) deleterious(0.772) HMMPfam_KCNQ_channel TMEM71 137835 genome.wustl.edu 37 8 133734363 133734363 + Splice_Site SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_144649.2 -1 validated e6-2 0.980 138 0% 199 18.6% 0 - - - - - TG 7038 genome.wustl.edu 37 8 133881992 133881992 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003235.4 +1 reviewed p.N65 0.000 54 0% 64 39.1% 0 - - - - HMMPfam_Thyroglobulin_1,HMMSmart_SM00211,PatternScan_THYROGLOBULIN_1_1,superfamily_Thyroglobulin type-1 domain TG 7038 genome.wustl.edu 37 8 133898913 133898913 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003235.4 +1 reviewed p.Q432H 0.000 87 0% 103 46.6% 0 - possibly_damaging(0.456) deleterious(0.02) deleterious(0.532) NULL TG 7038 genome.wustl.edu 37 8 133899206 133899206 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003235.4 +1 reviewed p.S530Y 0.003 68 0% 73 35.6% 0 - possibly_damaging(0.819) deleterious(0) deleterious(0.754) NULL TG 7038 genome.wustl.edu 37 8 133923652 133923652 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003235.4 +1 reviewed p.P1345T 0.923 411 0% 488 39.8% 0 - benign(0.004) tolerated(0.58) neutral(0.005) NULL TG 7038 genome.wustl.edu 37 8 133953756 133953756 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003235.4 +1 reviewed p.C1734 0.531 224 0% 299 39.5% 0 - - - - NULL TG 7038 genome.wustl.edu 37 8 134108577 134108577 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003235.4 +1 reviewed p.S2511Y 0.816 114 0% 180 41.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_COesterase,superfamily_alpha/beta-Hydrolases FAM135B 51059 genome.wustl.edu 37 8 139164587 139164587 + Missense_Mutation SNP G G A rs186109085 by1000genomes TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015912.3 -1 validated p.R711W 0.516 51 0% 66 45.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL COL22A1 169044 genome.wustl.edu 37 8 139611127 139611127 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000341807 -1 known p.Q629K 0.771 70 0% 88 34.1% 0 - - - - HMMPfam_Collagen COL22A1 169044 genome.wustl.edu 37 8 139825239 139825239 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152888.1 -1 validated p.I423 0.987 159 0% 231 40.3% 0 - - - - HMMSmart_SM00210,superfamily_Concanavalin A-like lectins/glucanases PTK2 5747 genome.wustl.edu 37 8 141745480 141745480 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005607.3 -1 reviewed p.R656* 0.994 253 0% 345 44.1% 24 12.5% - - - HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like GPR20 2843 genome.wustl.edu 37 8 142367016 142367016 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005293.2 -1 validated p.G336 0.002 11 0% 33 48.5% 0 - - - - superfamily_Family A G protein-coupled receptor-like BAI1 575 genome.wustl.edu 37 8 143569852 143569852 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001702.2 +1 reviewed p.F812L 1.000 55 0% 87 40.2% 1 0% benign(0.001) tolerated(1) - NULL BAI1 575 genome.wustl.edu 37 8 143602204 143602204 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001702.2 +1 reviewed p.S981Y 1.000 181 0% 257 38.1% 3 33.3% possibly_damaging(0.932) deleterious(0.03) deleterious(0.743) HMMPfam_7tm_2 JRK 8629 genome.wustl.edu 37 8 143746002 143746002 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001077527.1 -1 reviewed p.P492 0.000 7 0.000 18 0.500 9 55.5% - - - NULL JRK 8629 genome.wustl.edu 37 8 143746471 143746471 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001077527.1 -1 reviewed p.R336Q 0.024 21 0% 26 23.1% 2 50% - - - HMMPfam_DDE JRK 8629 genome.wustl.edu 37 8 143747021 143747021 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001077527.1 -1 reviewed p.E153* 0.037 59 0% 74 44.6% 0 - - - - NULL CYP11B2 1585 genome.wustl.edu 37 8 143993988 143993988 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000498.3 -1 reviewed p.G452 0.759 49 0% 63 50.8% 0 - - - - HMMPfam_p450,superfamily_Cytochrome P450,PatternScan_CYTOCHROME_P450 TOP1MT 116447 genome.wustl.edu 37 8 144407637 144407637 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_052963.1 -1 reviewed p.E184* 1.000 234 0% 281 41.6% 6 16.6% - - - HMMPfam_Topoisom_I_N,superfamily_TopoI_DNA_bd_euk EEF1D 1936 genome.wustl.edu 37 8 144669020 144669020 + Splice_Site SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001130054.1 -1 reviewed e2-1 1.000 147 0% 161 41% 178 44.3% - - - - PLEC 5339 genome.wustl.edu 37 8 145007096 145007096 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_201380.2 -1 reviewed p.E671D 1.000 21 0% 22 50% 71 29.5% unknown(0) - - HMMSmart_SM00150,superfamily_Spectrin repeat PLEC 5339 genome.wustl.edu 37 8 145007435 145007435 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_201380.2 -1 reviewed p.R587W 1.000 64 0% 96 44.8% 123 50.4% unknown(0) - - NULL HEATR7A 727957 genome.wustl.edu 37 8 145247303 145247303 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032450.2 +1 provisional p.Q316R 1.000 34 0% 36 44.4% 25 52% probably_damaging(0.996) deleterious(0.04) deleterious(0.810) superfamily_ARM repeat DGAT1 8694 genome.wustl.edu 37 8 145541611 145541611 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_012079.4 -1 validated p.R274Q 1.000 63 0% 58 44.8% 133 51.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MBOAT ZNF251 90987 genome.wustl.edu 37 8 145947064 145947064 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_138367.1 -1 validated p.H661N 0.016 127 0% 149 35.6% 4 50% benign(0.082) tolerated(0.1) neutral(0.292) NULL ZNF251 90987 genome.wustl.edu 37 8 145947691 145947691 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_138367.1 -1 validated p.R452* 0.510 116 0% 164 29.3% 7 0% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF7 7553 genome.wustl.edu 37 8 146054881 146054881 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003416.2 +1 validated p.D8N 0.999 179 0% 207 45.9% 2 50% possibly_damaging(0.921) deleterious(0) deleterious(0.816) HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box ZNF16 7564 genome.wustl.edu 37 8 146156908 146156908 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001029976.2 -1 reviewed p.K422T 0.005 126 0% 189 39.7% 16 43.7% probably_damaging(0.996) tolerated(0.46) deleterious(0.474) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers DOCK8 81704 genome.wustl.edu 37 9 340298 340298 + Silent SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_203447.3 +1 reviewed p.V484 0.004 95 0% 139 43.9% 0 - - - - NULL DOCK8 81704 genome.wustl.edu 37 9 414915 414915 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_203447.3 +1 reviewed p.I1154V 1.000 235 0% 328 43% 2 0% benign(0.012) tolerated(1) neutral(0.001) NULL DOCK8 81704 genome.wustl.edu 37 9 422053 422053 + Missense_Mutation SNP G G A rs182516558 by1000genomes TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_203447.3 +1 reviewed p.D1319N 1.000 197 0% 229 43.2% 1 100% benign(0.045) tolerated(0.22) neutral(0.045) NULL DOCK8 81704 genome.wustl.edu 37 9 446447 446447 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_203447.3 +1 reviewed p.K1818N 1.000 125 0% 143 44.1% 2 50% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Ded_cyto DMRT3 58524 genome.wustl.edu 37 9 990504 990504 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_021240.2 +1 validated p.A306 0.393 118 0% 148 48% 0 - - - - NULL SMARCA2 6595 genome.wustl.edu 37 9 2083404 2083404 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003070.3 +1 reviewed p.I802M 0.997 326 0% 330 41.5% 12 41.6% benign(0.278) deleterious(0) deleterious(0.475) HMMPfam_SNF2_N,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases KIAA0020 9933 genome.wustl.edu 37 9 2810354 2810354 + Silent SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014878.4 -1 validated p.N571 0.001 517 0% 708 43.4% 18 38.8% - - - HMMPfam_CPL RFX3 5991 genome.wustl.edu 37 9 3293151 3293151 + Silent SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_134428.1 -1 reviewed p.P219 1.000 298 0% 368 41.8% 7 42.8% - - - "HMMPfam_RFX_DNA_binding,superfamily_""Winged helix"" DNA-binding domain" GLIS3 169792 genome.wustl.edu 37 9 3829399 3829399 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001042413.1 -1 reviewed p.S856L 1.000 99 0% 147 51.7% 29 58.6% possibly_damaging(0.718) tolerated(0.07) deleterious(0.579) NULL JAK2 3717 genome.wustl.edu 37 9 5044402 5044402 + Splice_Site SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004972.3 +1 reviewed e3-1 1.000 281 0% 330 38.8% 0 - - - - - JAK2 3717 genome.wustl.edu 37 9 5126393 5126393 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004972.3 +1 reviewed p.E1080* 1.000 304 0% 341 47.8% 3 0% - - - HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like C9orf46 55848 genome.wustl.edu 37 9 5361185 5361185 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018465.2 -1 provisional p.A72V 0.999 130 0% 174 28.2% 8 37.5% probably_damaging(0.977) tolerated(0.38) neutral(0.436) HMMPfam_DUF2368 PDCD1LG2 80380 genome.wustl.edu 37 9 5549473 5549473 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_025239.3 +1 validated p.S167F 0.007 72 0% 97 37.1% 1 0% benign(0.118) deleterious(0.02) neutral(0.393) HMMPfam_C2-set_2,superfamily_Immunoglobulin ERMP1 79956 genome.wustl.edu 37 9 5798875 5798875 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024896.2 -1 validated p.R734Q 1.000 170 0% 181 48.6% 15 33.3% benign(0.315) tolerated(0.31) neutral(0.126) NULL ERMP1 79956 genome.wustl.edu 37 9 5805715 5805715 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024896.2 -1 validated p.V540A 0.006 155 0% 206 10.2% 11 18.1% benign(0) tolerated(0.1) neutral(0.286) NULL KIAA2026 158358 genome.wustl.edu 37 9 5920513 5920513 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001017969.2 -1 validated p.S1828F 1.000 390 0% 531 47.6% 10 10% possibly_damaging(0.926) deleterious(0.01) deleterious(0.780) NULL KIAA2026 158358 genome.wustl.edu 37 9 5920974 5920974 + Silent SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001017969.2 -1 validated p.A1674 0.973 97 0% 132 36.4% 8 62.5% - - - NULL RANBP6 26953 genome.wustl.edu 37 9 6012973 6012973 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_012416.2 -1 validated p.L879I 1.000 113 0% 132 24.2% 7 14.2% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_ARM-type_fold RANBP6 26953 genome.wustl.edu 37 9 6013451 6013451 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_012416.2 -1 validated p.L719 1.000 137 0% 145 42.1% 7 28.5% - - - superfamily_ARM-type_fold GLDC 2731 genome.wustl.edu 37 9 6587274 6587274 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000170.2 -1 reviewed p.W573R 1.000 120 0% 116 38.8% 2 50% probably_damaging(0.991) deleterious(0) deleterious(0.889) superfamily_PyrdxlP-dep_Trfase_major GLDC 2731 genome.wustl.edu 37 9 6605162 6605162 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000170.2 -1 reviewed p.T277M 0.991 200 0% 251 44.2% 5 40% possibly_damaging(0.935) deleterious(0.03) deleterious(0.745) superfamily_PyrdxlP-dep_Trfase_major,HMMPfam_GDC-P MPDZ 8777 genome.wustl.edu 37 9 13205073 13205073 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003829.3 -1 validated p.S503L 0.031 272 0% 265 46.4% 3 0% benign(0) tolerated(0.35) neutral(0.021) NULL LOC138864 138864 genome.wustl.edu 37 9 14069071 14069071 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_002342892.1 +1 model p.E47D 0.493 36 0% 42 52.4% 0 - - - - HMMPfam_Mt_ATP-synt_D FREM1 158326 genome.wustl.edu 37 9 14823161 14823161 + Silent SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_144966.5 -1 reviewed p.P778 0.790 166 0% 257 47.5% 1 0% - - - NULL FREM1 158326 genome.wustl.edu 37 9 14823259 14823259 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_144966.5 -1 reviewed p.D746Y 0.324 171 0% 238 21.8% 5 0% benign(0) tolerated(1) - NULL FREM1 158326 genome.wustl.edu 37 9 14859223 14859223 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_144966.5 -1 reviewed p.E197* 0.455 60 0% 77 42.9% 1 0% - - - NULL FREM1 158326 genome.wustl.edu 37 9 14863899 14863899 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_144966.5 -1 reviewed p.V79 0.847 136 0% 164 46.3% 2 50% - - - NULL PSIP1 11168 genome.wustl.edu 37 9 15486857 15486857 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001128217.1 -1 validated p.D121Y 1.000 396 0% 448 45.3% 15 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Tudor/PWWP/MBT PSIP1 11168 genome.wustl.edu 37 9 15490042 15490042 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001128217.1 -1 validated p.F77C 1.000 338 0% 474 40.5% 10 50% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Tudor/PWWP/MBT PSIP1 11168 genome.wustl.edu 37 9 15506596 15506596 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001128217.1 -1 validated p.N38H 1.000 378 0% 507 44.2% 7 57.1% benign(0.258) tolerated(0.09) neutral(0.324) HMMPfam_PWWP,HMMSmart_SM00293,superfamily_Tudor/PWWP/MBT C9orf93 203238 genome.wustl.edu 37 9 15744280 15744280 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_173550.2 +1 predicted p.E687* 1.000 74 0% 93 49.5% 0 - - - - NULL C9orf93 203238 genome.wustl.edu 37 9 15744768 15744768 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_173550.2 +1 predicted p.K849N 0.993 134 0.7% 153 43.1% 1 100% benign(0.119) deleterious(0.01) neutral(0.415) NULL BNC2 54796 genome.wustl.edu 37 9 16419499 16419499 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017637.5 -1 validated p.D930N 1.000 64 0% 76 17.1% 2 0% possibly_damaging(0.459) tolerated(0.74) neutral(0.152) NULL BNC2 54796 genome.wustl.edu 37 9 16436243 16436243 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017637.5 -1 validated p.A650V 1.000 257 0% 339 41.6% 1 0% probably_damaging(0.983) deleterious(0.01) deleterious(0.835) NULL BNC2 54796 genome.wustl.edu 37 9 16436730 16436730 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017637.5 -1 validated p.R488C 1.000 188 0% 222 44.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers CNTLN 54875 genome.wustl.edu 37 9 17330769 17330769 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017738.2 +1 validated p.R494Q 0.064 180 0% 233 41.6% 0 - benign(0) tolerated(0.43) neutral(0.013) NULL CNTLN 54875 genome.wustl.edu 37 9 17464514 17464514 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017738.2 +1 validated p.D1142N 1.000 68 0% 85 43.5% 0 - probably_damaging(1) tolerated(0.4) deleterious(0.516) NULL SH3GL2 6456 genome.wustl.edu 37 9 17791249 17791249 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003026.2 +1 validated p.L215 0.995 93 0% 123 46.3% 1 0% - - - HMMPfam_BAR,HMMSmart_SM00721 ADAMTSL1 92949 genome.wustl.edu 37 9 18680542 18680542 + Nonstop_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000380566 +1 known p.*440Q 0.958 91 0% 151 42.4% 0 - - - - NULL HAUS6 54801 genome.wustl.edu 37 9 19078225 19078225 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017645.3 -1 provisional p.W380* 1.000 247 0% 254 41.3% 1 0% - - - NULL DENND4C 55667 genome.wustl.edu 37 9 19346864 19346864 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017925.4 +1 provisional p.R1081Q 0.227 119 0% 152 40.1% 5 40% possibly_damaging(0.619) deleterious(0.04) deleterious(0.565) NULL RPS6 6194 genome.wustl.edu 37 9 19376343 19376343 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001010.2 -1 reviewed p.R233I 1.000 95 0% 148 33.8% 328 37.8% unknown(0) deleterious(0) - NULL SLC24A2 25769 genome.wustl.edu 37 9 19576983 19576983 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020344.1 -1 provisional p.I389 0.237 283 0% 373 18.5% 0 - - - - NULL SLC24A2 25769 genome.wustl.edu 37 9 19576994 19576994 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020344.1 -1 provisional p.L386I 1.000 266 0% 330 45.8% 0 - possibly_damaging(0.838) tolerated(0.42) neutral(0.334) NULL PTPLAD2 401494 genome.wustl.edu 37 9 21011608 21011608 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001010915.3 -1 validated p.P157H 1.000 125 0% 137 35.8% 4 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_PTPLA IFNB1 3456 genome.wustl.edu 37 9 21077435 21077435 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002176.2 -1 validated p.R145I 0.000 258 0.4% 323 41.5% 0 - possibly_damaging(0.524) deleterious(0.04) deleterious(0.525) HMMPfam_Interferon,HMMSmart_SM00076,superfamily_4-helical cytokines IFNB1 3456 genome.wustl.edu 37 9 21077806 21077806 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002176.2 -1 validated p.S21 0.000 24 0% 54 35.2% 0 - - - - HMMPfam_Interferon IFNW1 3467 genome.wustl.edu 37 9 21141285 21141285 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002177.1 -1 provisional p.R95 0.000 108 0% 157 45.9% 0 - - - - HMMPfam_Interferon,HMMSmart_IFabd,superfamily_4_helix_cytokine IFNA4 3441 genome.wustl.edu 37 9 21187206 21187206 + Missense_Mutation SNP A A G rs80233629 TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_021068.2 -1 validated p.S109P 0.000 561 0% 687 30.9% 0 - benign(0.112) tolerated(0.09) neutral(0.305) HMMPfam_Interferon,HMMSmart_IFabd,superfamily_4_helix_cytokine IFNA17 3451 genome.wustl.edu 37 9 21227960 21227960 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_021268.2 -1 validated p.F71 0.428 253 0% 328 45.1% 0 - - - - HMMPfam_Interferon,HMMSmart_IFabd,superfamily_4_helix_cytokine TEK 7010 genome.wustl.edu 37 9 27158079 27158079 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000459.3 +1 reviewed p.F101L 1.000 215 0.5% 297 18.5% 3 0% benign(0.125) tolerated(0.46) neutral(0.022) HMMPfam_Ig_Tie2_1 LINGO2 158038 genome.wustl.edu 37 9 27949327 27949327 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152570.1 -1 provisional p.R448Q 0.998 96 0% 168 19.6% 1 0% benign(0.4) tolerated(0.77) neutral(0.130) HMMSmart_IGc2,HMMPfam_I-set,superfamily_SSF48726 ACO1 48 genome.wustl.edu 37 9 32418144 32418144 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002197.2 +1 reviewed p.K141N 1.000 205 0% 220 36.4% 1 0% probably_damaging(0.991) tolerated(0.43) neutral(0.458) HMMPfam_Aconitase,superfamily_Aconitase iron-sulfur domain DDX58 23586 genome.wustl.edu 37 9 32489410 32489410 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014314.3 -1 reviewed p.R244I 1.000 264 0% 357 45.9% 0 - - - - HMMPfam_DEAD,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases DDX58 23586 genome.wustl.edu 37 9 32491325 32491325 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014314.3 -1 reviewed p.L222R 0.996 171 0% 268 39.2% 0 - probably_damaging(0.992) deleterious(0) deleterious(0.892) superfamily_P-loop containing nucleoside triphosphate hydrolases TOPORS 10210 genome.wustl.edu 37 9 32542715 32542715 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005802.3 -1 reviewed p.R603H 0.921 268 0% 363 47.1% 7 42.8% unknown(0) deleterious(0.02) - NULL TAF1L 138474 genome.wustl.edu 37 9 32633275 32633275 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_153809.2 -1 provisional p.R768H 1.000 549 0% 683 44.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL KIF24 347240 genome.wustl.edu 37 9 34255112 34255112 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000443226 -1 known p.R260W 0.996 96 0% 125 47.2% 3 0% - - - NULL KIAA1045 23349 genome.wustl.edu 37 9 34971402 34971402 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015297.1 +1 validated p.R36H 0.917 82 0% 113 16.8% 0 - benign(0.001) tolerated(0.06) neutral(0.323) NULL UNC13B 10497 genome.wustl.edu 37 9 35377571 35377571 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006377.3 +1 reviewed p.I565 1.000 87 0% 86 39.5% 3 66.6% - - - superfamily_C2_CaLB CA9 768 genome.wustl.edu 37 9 35676099 35676099 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001216.2 +1 reviewed p.G215S 0.998 14 0% 16 31.2% 2 100% probably_damaging(0.968) tolerated(0.09) deleterious(0.706) HMMPfam_Carb_anhydrase,superfamily_Euk_COanhd GBA2 57704 genome.wustl.edu 37 9 35738221 35738221 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000378088 -1 known p.S10L 0.000 183 0% 235 41.7% 13 53.8% benign(0.002) tolerated(0.75) neutral(0.002) NULL GBA2 57704 genome.wustl.edu 37 9 35738616 35738616 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020944.2 -1 reviewed p.S654F 1.000 161 0% 248 43.1% 105 46.6% probably_damaging(0.983) tolerated(0.65) neutral(0.432) HMMPfam_DUF608,superfamily_Six-hairpin glycosidases SPAG8 26206 genome.wustl.edu 37 9 35810883 35810883 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_172312.1 -1 reviewed p.R346* 0.579 322 0% 396 17.7% 0 - - - - NULL TMEM8B 51754 genome.wustl.edu 37 9 35852877 35852877 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001042589.1 +1 provisional p.Y291 0.992 418 0% 575 42.3% 16 6.2% - - - NULL TMEM8B 51754 genome.wustl.edu 37 9 35853760 35853760 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001042589.1 +1 provisional p.L448 1.000 31 0% 56 51.8% 2 0% - - - NULL OR13J1 392309 genome.wustl.edu 37 9 35869592 35869592 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001004487.1 -1 provisional p.I269 0.001 88 0% 155 50.3% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like MELK 9833 genome.wustl.edu 37 9 36581737 36581737 + Splice_Site SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014791.2 +1 provisional e1+1 1.000 448 0% 561 40.6% 0 - - - - - MELK 9833 genome.wustl.edu 37 9 36671152 36671152 + Silent SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014791.2 +1 provisional p.R555 0.996 142 0.7% 165 44.8% 16 43.7% - - - superfamily_SSF103243 PAX5 5079 genome.wustl.edu 37 9 37006476 37006476 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016734.1 -1 reviewed p.S157G 1.000 664 0% 758 45.1% 0 - benign(0.029) tolerated(0.2) neutral(0.051) NULL ZBTB5 9925 genome.wustl.edu 37 9 37440625 37440625 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014872.2 -1 validated p.A642T 1.000 155 0% 170 15.9% 13 15.3% benign(0.207) deleterious(0.05) neutral(0.365) HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers FBXO10 26267 genome.wustl.edu 37 9 37512665 37512665 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_012166.2 -1 validated p.S917Y 0.994 61 0% 60 20% 2 0% probably_damaging(0.979) deleterious(0.02) deleterious(0.805) NULL FRMPD1 22844 genome.wustl.edu 37 9 37744542 37744542 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014907.2 +1 validated p.R838I 1.000 66 0% 82 35.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL FRMPD1 22844 genome.wustl.edu 37 9 37745225 37745225 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014907.2 +1 validated p.E1066* 0.414 33 0% 54 48.1% 0 - - - - NULL FRMPD1 22844 genome.wustl.edu 37 9 37745940 37745940 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014907.2 +1 validated p.P1304L 0.036 107 0% 150 16% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL RG9MTD3 158234 genome.wustl.edu 37 9 37762667 37762667 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_144964.2 +1 validated p.R94C 0.993 288 0.3% 313 46.3% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL ANKRD18A 253650 genome.wustl.edu 37 9 38596212 38596212 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000399703 -1 known p.L375 0.836 220 0% 278 25.5% 0 - - - - NULL ANKRD18A 253650 genome.wustl.edu 37 9 38596247 38596247 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000399703 -1 known p.E364* 0.273 144 0% 195 44.1% 0 - - - - NULL ANKRD18A 253650 genome.wustl.edu 37 9 38603210 38603210 + Splice_Site SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000399703 -1 known e7-1 0.071 204 0% 274 37.2% 0 - - - - - ZNF658 26149 genome.wustl.edu 37 9 40772990 40772990 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_033160.5 -1 validated p.R762I 1.000 206 0% 297 35% 0 - possibly_damaging(0.81) tolerated(0.14) deleterious(0.554) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF658 26149 genome.wustl.edu 37 9 40773322 40773322 + Silent SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_033160.5 -1 validated p.I651 0.982 290 0% 382 11% 2 0% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers LOC389722 389722 genome.wustl.edu 37 9 43853595 43853595 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_002342910.1 +1 model p.L619I 0.082 132 0% 139 18% 2 0% possibly_damaging(0.568) tolerated(0.24) neutral(0.232) superfamily_Fibrinogen C-terminal domain-like,superfamily_Concanavalin A-like lectins/glucanases LOC642236 642236 genome.wustl.edu 37 9 68435835 68435835 + RNA SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XR_041085.2 -1 model NULL 1.000 21 0% 31 32.3% 0 - - - - - PGM5 5239 genome.wustl.edu 37 9 71002396 71002396 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_021965.3 +1 validated p.V197M 1.000 268 0% 292 13.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Phosphoglucomutase first 3 domains PRKACG 5568 genome.wustl.edu 37 9 71628952 71628952 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002732.3 -1 reviewed p.F19 1.000 83 0% 110 42.7% 0 - - - - superfamily_Kinase_like FXN 2395 genome.wustl.edu 37 9 71668119 71668119 + Missense_Mutation SNP T T A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000144.4 +1 reviewed p.F109L 1.000 264 0% 257 12.1% 10 10% possibly_damaging(0.754) tolerated(0.49) neutral(0.289) HMMPfam_Frataxin_Cyay,superfamily_Frataxin-like TJP2 9414 genome.wustl.edu 37 9 71789298 71789298 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004817.3 +1 reviewed p.R4* 1.000 19 0% 46 41.3% 0 - - - - NULL TJP2 9414 genome.wustl.edu 37 9 71836352 71836352 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004817.3 +1 reviewed p.E298K 0.724 13 0% 21 52.4% 3 33.3% benign(0.309) tolerated(0.79) neutral(0.098) superfamily_PDZ domain-like TRPM3 80036 genome.wustl.edu 37 9 73255514 73255514 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001007471.2 -1 reviewed p.A470T 1.000 168 0% 209 43.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL GDA 9615 genome.wustl.edu 37 9 74828817 74828817 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004293.3 +1 validated p.R163Q 1.000 400 0.3% 466 46.1% 13 53.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Amidohydro_1,superfamily_Metallo-dependent hydrolases TMC1 117531 genome.wustl.edu 37 9 75309557 75309557 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_138691.2 +1 reviewed p.E55* 0.661 530 0% 752 43.8% 0 - - - - NULL TMC1 117531 genome.wustl.edu 37 9 75404060 75404060 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_138691.2 +1 reviewed p.A351S 1.000 89 0% 124 46% 0 - benign(0.221) deleterious(0) neutral(0.467) NULL TMC1 117531 genome.wustl.edu 37 9 75431094 75431094 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_138691.2 +1 reviewed p.V577 1.000 163 0% 197 43.1% 0 - - - - HMMPfam_TMC ALDH1A1 216 genome.wustl.edu 37 9 75524522 75524522 + Missense_Mutation SNP C C T rs185575721 by1000genomes TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000689.3 -1 reviewed p.V452M 1.000 219 0% 306 40.5% 87 1.1% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_Aldedh,superfamily_ALDH-like TRPM6 140803 genome.wustl.edu 37 9 77431618 77431618 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017662.4 -1 reviewed p.K425N 1.000 264 0% 288 44.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL PRUNE2 158471 genome.wustl.edu 37 9 79318531 79318531 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000426088 -1 known p.R1988W 0.000 85 0% 97 49.5% 0 - - - - NULL VPS13A 23230 genome.wustl.edu 37 9 79917862 79917862 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_033305.2 +1 reviewed p.V1282L 0.998 220 0% 242 40.1% 2 100% benign(0.291) tolerated(0.05) neutral(0.435) NULL VPS13A 23230 genome.wustl.edu 37 9 79972723 79972723 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_033305.2 +1 reviewed p.S2641* 0.624 122 0.8% 149 41.6% 5 0% - - - NULL TLE4 7091 genome.wustl.edu 37 9 82321747 82321747 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000417836 +1 known p.R23* 1.000 247 0% 247 53% 2 0% possibly_damaging(0.916) deleterious(0) deleterious(0.811) NULL TLE1 7088 genome.wustl.edu 37 9 84230908 84230908 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005077.3 -1 provisional p.E303* 1.000 113 0% 168 41.7% 26 23% - - - NULL KIF27 55582 genome.wustl.edu 37 9 86457207 86457207 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017576.1 -1 provisional p.K1222N 1.000 293 0% 279 34.4% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL KIF27 55582 genome.wustl.edu 37 9 86523407 86523407 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017576.1 -1 provisional p.M153I 0.800 259 0% 291 40.2% 0 - benign(0) tolerated(0.19) neutral(0.050) HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases NTRK2 4915 genome.wustl.edu 37 9 87359956 87359956 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006180.3 +1 reviewed p.V422I 0.378 212 0.9% 293 42.3% 3 66.6% benign(0.04) tolerated(0.06) neutral(0.325) NULL AGTPBP1 23287 genome.wustl.edu 37 9 88284418 88284418 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015239.2 -1 validated p.K215R 1.000 179 0% 291 46.4% 1 0% benign(0.041) tolerated(0.21) neutral(0.046) superfamily_ARM-type_fold AGTPBP1 23287 genome.wustl.edu 37 9 88307719 88307719 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015239.2 -1 validated p.N14K 1.000 149 0% 203 45.8% 1 0% possibly_damaging(0.455) deleterious(0.03) deleterious(0.513) superfamily_ARM-type_fold LOC100129901 100129901 genome.wustl.edu 37 9 88396185 88396185 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_001716099.2 +1 model p.D17Y 1.000 279 0% 345 29.3% 0 - - - - NULL LOC100129901 100129901 genome.wustl.edu 37 9 88396257 88396257 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_001716099.2 +1 model p.R41W 0.006 194 0% 249 9.6% 0 - - - - NULL C9orf153 389766 genome.wustl.edu 37 9 88842786 88842786 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001010907.1 -1 predicted p.L76F 0.000 262 0% 353 43.1% 0 - possibly_damaging(0.893) tolerated(0.15) deleterious(0.593) NULL DAPK1 1612 genome.wustl.edu 37 9 90263717 90263717 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004938.2 +1 reviewed p.V451M 1.000 73 0% 112 42% 26 42.3% probably_damaging(0.964) deleterious(0.01) deleterious(0.812) HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK DAPK1 1612 genome.wustl.edu 37 9 90321727 90321727 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004938.2 +1 reviewed p.E1247 1.000 7 0.000 10 0.400 121 60.3% - - - NULL DAPK1 1612 genome.wustl.edu 37 9 90322003 90322003 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004938.2 +1 reviewed p.L1339 0.156 54 0% 48 39.6% 65 38.4% - - - HMMPfam_Death,HMMSmart_DEATH,superfamily_DEATH_like C9orf79 286234 genome.wustl.edu 37 9 90501165 90501165 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_178828.4 +1 validated p.S588F 0.000 47 0% 53 56.6% 0 - probably_damaging(0.978) deleterious(0.04) deleterious(0.769) NULL FAM75C1 441452 genome.wustl.edu 37 9 90537366 90537366 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001145124.1 +1 validated p.V848 0.004 215 0% 269 21.9% 0 - - - - NULL SHC3 53358 genome.wustl.edu 37 9 91660706 91660706 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016848.4 -1 validated p.G386* 0.999 426 0% 553 40.7% 0 - - - - NULL SHC3 53358 genome.wustl.edu 37 9 91661837 91661837 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016848.4 -1 validated p.I345 0.965 201 0% 282 45% 1 0% - - - NULL SYK 6850 genome.wustl.edu 37 9 93641235 93641235 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003177.5 +1 reviewed p.K527N 1.000 81 0% 121 45.5% 44 50% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) NFIL3 4783 genome.wustl.edu 37 9 94171833 94171833 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005384.2 -1 validated p.S395L 0.892 172 0% 226 40.3% 5 40% benign(0.071) deleterious(0) neutral(0.450) HMMPfam_Vert_IL3-reg_TF NFIL3 4783 genome.wustl.edu 37 9 94171983 94171983 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005384.2 -1 validated p.F345S 0.920 124 0% 176 44.3% 2 0% benign(0.039) deleterious(0) neutral(0.447) HMMPfam_Vert_IL3-reg_TF SPTLC1 10558 genome.wustl.edu 37 9 94843223 94843223 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006415.2 -1 reviewed p.V95M 1.000 285 0% 384 43.5% 12 58.3% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) superfamily_PLP-dependent transferases NOL8 55035 genome.wustl.edu 37 9 95076694 95076694 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017948.5 -1 validated p.F738S 0.000 156 0.6% 218 46.3% 6 33.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL OMD 4958 genome.wustl.edu 37 9 95177603 95177603 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005014.2 -1 validated p.R366Q 0.878 535 0% 724 45% 0 - benign(0.074) tolerated(0.09) neutral(0.301) superfamily_L domain-like ASPN 54829 genome.wustl.edu 37 9 95219688 95219688 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017680.3 -1 validated p.S342Y 1.000 308 0% 405 44.4% 0 - possibly_damaging(0.609) deleterious(0) deleterious(0.655) NULL BICD2 23299 genome.wustl.edu 37 9 95491390 95491390 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001003800.1 -1 reviewed p.T123 0.769 81 0% 108 47.2% 19 57.8% - - - HMMPfam_BicD FGD3 89846 genome.wustl.edu 37 9 95784648 95784648 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001083536.1 +1 validated p.E512K 0.000 84 0% 88 51.1% 5 60% benign(0.025) tolerated(0.31) neutral(0.028) superfamily_FYVE/PHD zinc finger WNK2 65268 genome.wustl.edu 37 9 96000548 96000548 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006648.3 +1 reviewed p.D423N 0.999 237 0% 294 43.2% 65 58.4% unknown(0) tolerated(0.44) - superfamily_Kinase_like,HMMPfam_Pkinase FAM120A 23196 genome.wustl.edu 37 9 96289454 96289454 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014612.3 +1 validated p.K479R 1.000 100 0% 95 45.3% 236 47.8% benign(0.15) tolerated(0.11) neutral(0.285) NULL PHF2 5253 genome.wustl.edu 37 9 96408059 96408059 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005392.3 +1 reviewed p.E150K 0.998 28 0% 50 48% 37 48.6% probably_damaging(0.969) deleterious(0) deleterious(0.856) superfamily_SSF51197 BARX1 56033 genome.wustl.edu 37 9 96714554 96714554 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_021570.3 -1 reviewed p.K219N 1.000 62 0% 90 43.3% 0 - probably_damaging(1) tolerated(0.18) deleterious(0.556) NULL MIRLET7F1 406888 genome.wustl.edu 37 9 96938698 96938698 + RNA SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000362202 +1 known NULL 1.000 293 0% 451 53% 0 - - - - - FBP1 2203 genome.wustl.edu 37 9 97382706 97382706 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000507.3 -1 reviewed p.D80N 1.000 122 0% 194 12.4% 20 15% benign(0) deleterious(0.03) neutral(0.364) HMMPfam_FBPase,superfamily_Carbohydrate phosphatase MIR27B 407019 genome.wustl.edu 37 9 97847817 97847817 + RNA SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000385129 +1 known NULL 1.000 90 0% 97 40.2% 0 - - - - - C9orf102 375748 genome.wustl.edu 37 9 98728883 98728883 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001010895.2 +1 validated p.R674* 1.000 248 0% 311 41.5% 2 0% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases C9orf102 375748 genome.wustl.edu 37 9 98775222 98775222 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000407474 +1 known p.L445I 0.283 63 0% 69 53.6% 2 100% possibly_damaging(0.923) tolerated(0.37) neutral(0.392) NULL HSD17B3 3293 genome.wustl.edu 37 9 99017151 99017151 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000197.1 -1 reviewed p.I92 1.000 176 0% 227 38.8% 4 25% - - - HMMPfam_adh_short,superfamily_NAD(P)-binding Rossmann-fold domains ZNF367 195828 genome.wustl.edu 37 9 99154788 99154788 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_153695.3 -1 validated p.R241H 1.000 215 0% 258 41.1% 6 50% probably_damaging(1) deleterious(0.02) deleterious(0.883) superfamily_C2H2 and C2HC zinc fingers ZNF510 22869 genome.wustl.edu 37 9 99522515 99522515 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014930.1 -1 provisional p.K199 0.173 93 0% 115 33.9% 0 - - - - NULL FAM22G 441457 genome.wustl.edu 37 9 99700669 99700669 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000372322 +1 known p.S488 0.174 42 0% 60 31.7% 0 - - - - NULL CTSL2 1515 genome.wustl.edu 37 9 99799643 99799643 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001333.2 -1 reviewed p.R96Q 0.469 213 0% 306 49% 84 40.4% benign(0.002) tolerated(0.33) neutral(0.024) superfamily_SSF54001 CTSL2 1515 genome.wustl.edu 37 9 99800319 99800319 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001333.2 -1 reviewed p.L3I 0.125 166 0% 154 48.7% 54 61.1% benign(0.3) tolerated(0.36) neutral(0.113) NULL TMOD1 7111 genome.wustl.edu 37 9 100353693 100353693 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003275.3 +1 reviewed p.A331T 1.000 114 0% 141 48.2% 22 36.3% probably_damaging(0.996) tolerated(0.19) deleterious(0.511) HMMPfam_Tropomodulin,superfamily_SSF52047 XPA 7507 genome.wustl.edu 37 9 100451874 100451874 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000380.3 -1 reviewed p.E111* 1.000 297 0% 410 44.9% 0 - - - - HMMPfam_XPA_N,PatternScan_XPA_1,superfamily_SSF57716 NANS 54187 genome.wustl.edu 37 9 100840569 100840569 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018946.3 +1 reviewed p.F181L 1.000 142 0% 176 41.5% 360 45.5% benign(0) tolerated(1) - HMMPfam_NeuB,superfamily_Aldolase TRIM14 9830 genome.wustl.edu 37 9 100854205 100854205 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014788.2 -1 reviewed p.S260L 0.796 355 0% 419 15% 6 16.6% probably_damaging(0.955) tolerated(0.12) deleterious(0.659) NULL GABBR2 9568 genome.wustl.edu 37 9 101243220 101243220 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005458.7 -1 reviewed p.F264L 1.000 98 0% 112 41.1% 0 - possibly_damaging(0.917) tolerated(0.36) neutral(0.388) HMMPfam_ANF_receptor,superfamily_SSF53822 GALNT12 79695 genome.wustl.edu 37 9 101589121 101589121 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024642.3 +1 validated p.R210Q 1.000 94 0% 115 49.6% 20 45% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) HMMPfam_Glycos_transf_2,superfamily_Nucleotide-diphospho-sugar transferases GALNT12 79695 genome.wustl.edu 37 9 101597633 101597633 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024642.3 +1 validated p.L340 1.000 483 0% 554 43.9% 22 36.3% - - - superfamily_Nucleotide-diphospho-sugar transferases TEX10 54881 genome.wustl.edu 37 9 103091475 103091475 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017746.3 -1 validated p.L524F 0.997 271 0% 322 42.5% 2 100% possibly_damaging(0.8) deleterious(0.03) deleterious(0.665) NULL ZNF189 7743 genome.wustl.edu 37 9 104170433 104170433 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003452.2 +1 validated p.R128I 0.108 135 0% 178 20.8% 5 20% benign(0.132) tolerated(0.21) neutral(0.055) NULL ZNF189 7743 genome.wustl.edu 37 9 104171625 104171625 + Silent SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003452.2 +1 validated p.C525 0.804 192 0% 279 41.9% 5 20% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers SMC2 10592 genome.wustl.edu 37 9 106901468 106901468 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001042550.1 +1 validated p.L1156I 1.000 229 0% 293 42% 30 50% probably_damaging(0.964) deleterious(0) deleterious(0.851) HMMPfam_SMC_N,superfamily_P-loop containing nucleoside triphosphate hydrolases NIPSNAP3B 55335 genome.wustl.edu 37 9 107535138 107535138 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018376.2 +1 provisional p.R206C 0.998 542 0% 761 46.6% 26 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_NIPSNAP ABCA1 19 genome.wustl.edu 37 9 107550735 107550735 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005502.2 -1 reviewed p.R2014K 1.000 117 0% 139 50.4% 13 30.7% possibly_damaging(0.796) tolerated(0.08) deleterious(0.599) HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases ABCA1 19 genome.wustl.edu 37 9 107607780 107607780 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005502.2 -1 reviewed p.S264I 1.000 232 0.4% 297 49.2% 7 28.5% possibly_damaging(0.673) tolerated(0.05) deleterious(0.585) NULL FSD1L 83856 genome.wustl.edu 37 9 108270937 108270937 + Missense_Mutation SNP G G A rs184353818 by1000genomes TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001145313.1 +1 validated p.R279Q 1.000 326 0% 435 40.7% 0 - benign(0.171) deleterious(0.01) neutral(0.421) HMMPfam_fn3,superfamily_Fibronectin type III FKTN 2218 genome.wustl.edu 37 9 108397407 108397407 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000457847 +1 known p.S113L 0.009 254 0.8% 334 45.2% 1 100% - - - HMMPfam_LicD ZNF462 58499 genome.wustl.edu 37 9 109686692 109686692 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_021224.4 +1 validated p.C167R 1.000 37 0% 29 48.3% 1 100% unknown(0) deleterious(0) - HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF462 58499 genome.wustl.edu 37 9 109688821 109688821 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_021224.4 +1 validated p.I876 1.000 88 0% 160 43.1% 8 62.5% - - - superfamily_beta-sandwich domain of Sec23/24 RAD23B 5887 genome.wustl.edu 37 9 110064335 110064335 + Silent SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002874.3 +1 reviewed p.D56 0.999 297 0% 351 46.4% 80 43.7% - - - HMMPfam_ubiquitin,HMMSmart_SM00213,superfamily_Ubiquitin-like KLF4 9314 genome.wustl.edu 37 9 110251228 110251228 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004235.4 -1 validated p.A37S 0.999 25 0% 15 46.7% 17 35.2% probably_damaging(0.957) tolerated(0.13) deleterious(0.653) NULL IKBKAP 8518 genome.wustl.edu 37 9 111679935 111679935 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003640.3 -1 reviewed p.L252F 1.000 384 0% 410 43.4% 7 42.8% probably_damaging(1) tolerated(0.22) deleterious(0.542) HMMPfam_IKI3,superfamily_Amine_DH_B_like CTNNAL1 8727 genome.wustl.edu 37 9 111741632 111741632 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003798.2 -1 provisional p.E344* 0.998 355 0% 454 44.9% 7 0% - - - superfamily_alpha-catenin/vinculin TMEM245 23731 genome.wustl.edu 37 9 111800390 111800390 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032012.3 -1 validated p.F711L 1.000 161 0% 202 17.8% 11 18.1% probably_damaging(0.998) tolerated(0.12) deleterious(0.735) NULL TMEM245 23731 genome.wustl.edu 37 9 111848280 111848280 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032012.3 -1 validated p.K447N 1.000 265 0% 354 13% 0 - probably_damaging(0.998) tolerated(0.39) deleterious(0.490) NULL EPB41L4B 54566 genome.wustl.edu 37 9 112005906 112005906 + Silent SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_019114.3 -1 validated p.P467 0.992 251 0% 296 17.2% 84 21.4% - - - NULL PALM2 114299 genome.wustl.edu 37 9 112705283 112705283 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_053016.5 +1 validated p.E274* 1.000 81 0% 80 40% 0 - - - - HMMPfam_Paralemmin PALM2 114299 genome.wustl.edu 37 9 112705679 112705679 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_053016.5 +1 validated p.R406C 1.000 155 0% 185 44.9% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Paralemmin SVEP1 79987 genome.wustl.edu 37 9 113169527 113169527 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_153366.3 -1 validated p.S2785P 0.000 56 0% 98 52% 4 0% possibly_damaging(0.488) tolerated(0.22) neutral(0.205) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain SVEP1 79987 genome.wustl.edu 37 9 113192643 113192643 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_153366.3 -1 validated p.S1814L 0.994 144 0% 225 50.7% 0 - probably_damaging(0.978) tolerated(0.28) neutral(0.452) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain KIAA0368 23392 genome.wustl.edu 37 9 114125892 114125892 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001080398.1 -1 provisional p.E1964* 1.000 312 0.3% 333 20.4% 20 15% - - - superfamily_ARM repeat KIAA0368 23392 genome.wustl.edu 37 9 114148712 114148712 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001080398.1 -1 provisional p.L1336I 1.000 143 0% 151 44.4% 8 62.5% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_HEAT,superfamily_ARM repeat KIAA0368 23392 genome.wustl.edu 37 9 114202714 114202714 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001080398.1 -1 provisional p.E337D 1.000 282 0% 366 14.2% 2 50% possibly_damaging(0.933) tolerated(0.44) neutral(0.392) superfamily_ARM repeat ZNF483 158399 genome.wustl.edu 37 9 114305320 114305320 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_133464.2 +1 validated p.R702Q 0.199 74 0% 96 39.6% 0 - probably_damaging(0.996) tolerated(1) neutral(0.462) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 LRRC37A5P 652972 genome.wustl.edu 37 9 114371477 114371477 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000374306 -1 known p.V44A 0.471 139 0% 246 32.5% 0 - possibly_damaging(0.448) deleterious(0.01) deleterious(0.552) NULL C9orf84 158401 genome.wustl.edu 37 9 114453996 114453996 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_173521.3 -1 validated p.E1357* 0.561 159 0% 209 50.2% 0 - - - - NULL C9orf84 158401 genome.wustl.edu 37 9 114468963 114468963 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_173521.3 -1 validated p.F810L 1.000 198 0% 220 45% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL C9orf84 158401 genome.wustl.edu 37 9 114489944 114489944 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_173521.3 -1 validated p.K537N 0.073 190 0% 301 45.8% 0 - benign(0.139) tolerated(0.19) neutral(0.061) NULL SUSD1 64420 genome.wustl.edu 37 9 114911578 114911578 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000374263 -1 known p.R107* 1.000 199 0% 300 52.3% 7 14.2% - - - HMMSmart_EGF_CA,HMMPfam_EGF_CA,superfamily_SSF57196 PTBP3 9991 genome.wustl.edu 37 9 115030399 115030399 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005156.5 -1 validated p.R122Q 1.000 219 0% 260 44.2% 9 55.5% possibly_damaging(0.897) deleterious(0) deleterious(0.798) HMMSmart_SM00360,superfamily_RNA-binding domain RBD PTBP3 9991 genome.wustl.edu 37 9 115030400 115030400 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005156.5 -1 validated p.R122* 1.000 215 0% 247 46.6% 9 44.4% - - - HMMSmart_SM00360,superfamily_RNA-binding domain RBD RGS3 5998 genome.wustl.edu 37 9 116303692 116303692 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017790.3 +1 reviewed p.Q598H 1.000 159 0% 201 28.4% 3 0% possibly_damaging(0.519) deleterious(0) deleterious(0.619) NULL ZNF618 114991 genome.wustl.edu 37 9 116811669 116811669 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_133374.2 +1 validated p.S603L 0.996 34 0% 50 36% 21 9.5% probably_damaging(0.956) deleterious(0) deleterious(0.844) NULL COL27A1 85301 genome.wustl.edu 37 9 117063378 117063378 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032888.2 +1 validated p.L1576 0.005 86 1.2% 96 47.9% 2 50% - - - HMMPfam_Collagen AKNA 80709 genome.wustl.edu 37 9 117110140 117110140 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_030767.4 -1 validated p.R1088C 0.875 15 0% 31 51.6% 13 30.7% probably_damaging(1) deleterious(0) deleterious(0.945) NULL DFNB31 25861 genome.wustl.edu 37 9 117166287 117166287 + Silent SNP G G A rs148971049 by1000genomes TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015404.3 -1 reviewed p.G769 0.032 60 0% 59 45.8% 23 52.1% - - - NULL DFNB31 25861 genome.wustl.edu 37 9 117240779 117240779 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000374057 -1 known p.P297 0.000 74 2.7% 136 40.4% 4 0% - - - NULL TNFSF8 944 genome.wustl.edu 37 9 117666452 117666452 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001244.2 -1 reviewed p.S155Y 0.025 237 0% 362 45% 0 - possibly_damaging(0.805) deleterious(0.03) deleterious(0.667) HMMPfam_TNF,HMMSmart_SM00207,superfamily_TNF-like TNC 3371 genome.wustl.edu 37 9 117827186 117827186 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002160.2 -1 validated p.E1076G 0.995 89 0% 89 43.8% 41 9.7% benign(0.039) tolerated(0.21) neutral(0.046) HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like PAPPA 5069 genome.wustl.edu 37 9 118949691 118949691 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002581.3 +1 reviewed p.G225D 1.000 44 0% 53 15.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_LamGL,superfamily_ConA_like_lec_gl ASTN2 23245 genome.wustl.edu 37 9 119202920 119202920 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000417725 -1 known p.S32L 0.996 162 0% 216 45.4% 10 60% - - - NULL TLR4 7099 genome.wustl.edu 37 9 120475190 120475190 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_138554.3 +1 reviewed p.E262* 1.000 89 0% 101 36.6% 0 - - - - superfamily_L domain-like LOC389787 389787 genome.wustl.edu 37 9 120845348 120845348 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_001725747.2 -1 model p.E71K 1.000 232 0% 238 40.8% 0 - - - - HMMPfam_TCTP,superfamily_Mss4-like CDK5RAP2 55755 genome.wustl.edu 37 9 123280905 123280905 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018249.4 -1 reviewed p.T371A 0.002 145 0% 210 35.2% 7 57.1% benign(0) tolerated(0.8) neutral(0.001) NULL C5 727 genome.wustl.edu 37 9 123737135 123737135 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001735.2 -1 reviewed p.I1313 0.514 241 0% 349 43.6% 0 - - - - NULL C5 727 genome.wustl.edu 37 9 123739106 123739106 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001735.2 -1 reviewed p.R1246C 0.002 218 0% 282 41.8% 0 - probably_damaging(0.997) deleterious(0.01) deleterious(0.872) superfamily_Terp_cyc_toroid,HMMPfam_A2M_comp C5 727 genome.wustl.edu 37 9 123745015 123745015 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001735.2 -1 reviewed p.S1103Y 0.933 218 0% 252 40.9% 0 - possibly_damaging(0.943) deleterious(0.01) deleterious(0.793) superfamily_Terp_cyc_toroid,HMMPfam_A2M_comp CNTRL 11064 genome.wustl.edu 37 9 123852640 123852640 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_007018.4 +1 reviewed p.S102Y 1.000 278 0% 314 49% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL GSN 2934 genome.wustl.edu 37 9 124065295 124065295 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000177.4 +1 reviewed p.F152 0.162 31 0% 35 17.1% 595 10% - - - HMMSmart_SM00262,HMMPfam_Gelsolin,superfamily_Actin depolymerizing proteins NDUFA8 4702 genome.wustl.edu 37 9 124914529 124914529 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014222.2 -1 reviewed p.F70L 1.000 211 0% 203 38.4% 169 41.4% probably_damaging(1) tolerated(0.13) deleterious(0.752) NULL RABGAP1 23637 genome.wustl.edu 37 9 125861822 125861822 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_012197.3 +1 validated p.K961N 0.997 322 0% 379 47% 16 50% benign(0.001) tolerated(0.44) neutral(0.013) NULL STRBP 55342 genome.wustl.edu 37 9 125920294 125920294 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018387.4 -1 validated p.E348* 1.000 240 0% 310 39.7% 13 7.6% - - - NULL HSPA5 3309 genome.wustl.edu 37 9 127999117 127999117 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005347.3 -1 validated p.K573N 1.000 376 0% 416 45.4% 68 47% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_HSP70,superfamily_Heat shock protein 70kD (HSP70) C-terminal subdomain PBX3 5090 genome.wustl.edu 37 9 128724449 128724449 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006195.5 +1 validated p.D360N 1.000 236 0% 304 40.5% 1 0% probably_damaging(0.988) tolerated(0.05) deleterious(0.783) NULL ZBTB43 23099 genome.wustl.edu 37 9 129595863 129595863 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001135776.1 +1 validated p.E359* 1.000 85 0% 68 48.5% 2 0% - - - NULL ANGPTL2 23452 genome.wustl.edu 37 9 129870902 129870902 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_012098.2 -1 reviewed p.E37* 0.999 29 0% 48 31.2% 23 4.3% - - - NULL LRSAM1 90678 genome.wustl.edu 37 9 130241221 130241221 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001005373.1 +1 validated p.F253L 1.000 136 0% 178 48.3% 5 100% benign(0.366) tolerated(0.45) neutral(0.129) NULL LRSAM1 90678 genome.wustl.edu 37 9 130255091 130255091 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001005373.1 +1 validated p.S505L 0.946 41 0% 65 46.2% 7 0% possibly_damaging(0.621) tolerated(0.16) neutral(0.276) NULL STXBP1 6812 genome.wustl.edu 37 9 130442503 130442503 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003165.3 +1 reviewed p.F510C 1.000 330 0% 397 44.6% 3 0% benign(0.175) tolerated(0.18) neutral(0.072) HMMPfam_Sec1,superfamily_Sec1/munc18-like (SM) proteins FPGS 2356 genome.wustl.edu 37 9 130573264 130573264 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004957.4 +1 reviewed p.T443K 1.000 61 0% 104 47.1% 110 39% benign(0.344) tolerated(0.06) neutral(0.431) HMMPfam_Mur_ligase_C ODF2 4957 genome.wustl.edu 37 9 131231610 131231610 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002540.3 +1 reviewed p.A109V 0.778 206 0% 310 26.5% 38 34.2% benign(0) tolerated(0.39) neutral(0.016) NULL SPTAN1 6709 genome.wustl.edu 37 9 131336976 131336976 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001130438.1 +1 validated p.R129H 1.000 260 0% 386 45.1% 16 37.5% possibly_damaging(0.94) tolerated(0.23) neutral(0.426) HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_Spectrin SPTAN1 6709 genome.wustl.edu 37 9 131339203 131339203 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001130438.1 +1 validated p.L251 0.985 128 0% 164 50% 27 51.8% - - - HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_Spectrin DOLK 22845 genome.wustl.edu 37 9 131708618 131708618 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014908.3 -1 reviewed p.R322L 1.000 69 0% 94 59.6% 37 43.2% probably_damaging(0.98) deleterious(0.04) deleterious(0.773) NULL SH3GLB2 56904 genome.wustl.edu 37 9 131771610 131771610 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020145.2 -1 provisional p.F285 0.896 39 0% 40 12.5% 358 6.7% - - - superfamily_SH3-domain METTL11A 28989 genome.wustl.edu 37 9 132396444 132396444 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014064.2 +1 validated p.I92V 1.000 59 0% 84 48.8% 70 44.2% benign(0) tolerated(0.52) neutral(0.009) HMMPfam_DUF858,superfamily_SSF53335 ASB6 140459 genome.wustl.edu 37 9 132400261 132400261 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017873.2 -1 reviewed p.I358 1.000 58 0% 63 11.1% 26 15.3% - - - NULL ASB6 140459 genome.wustl.edu 37 9 132401756 132401756 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017873.2 -1 reviewed p.I109 0.430 54 0% 64 29.7% 48 45.8% - - - HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat PTGES 9536 genome.wustl.edu 37 9 132501975 132501975 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004878.4 -1 reviewed p.I125T 0.990 62 0% 64 37.5% 6 16.6% benign(0) tolerated(0.81) neutral(0.001) HMMPfam_MAPEG USP20 10868 genome.wustl.edu 37 9 132631997 132631997 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001008563.3 +1 validated p.P480H 1.000 17 0% 38 15.8% 22 0% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_UCH,superfamily_SSF54001 FNBP1 23048 genome.wustl.edu 37 9 132671210 132671210 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000449089 -1 known p.S370L 0.782 520 0% 650 44% 1 100% - - - NULL GPR107 57720 genome.wustl.edu 37 9 132854651 132854651 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001136557.1 +1 validated p.R285Q 1.000 280 0% 389 42.4% 6 66.6% probably_damaging(1) tolerated(0.32) deleterious(0.524) HMMPfam_Lung_7-TM_R LAMC3 10319 genome.wustl.edu 37 9 133901955 133901955 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006059.3 +1 reviewed p.F219 0.963 5 0.000 12 0.417 11 0% - - - HMMPfam_Laminin_N,HMMSmart_LamNT SETX 23064 genome.wustl.edu 37 9 135204702 135204702 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015046.5 -1 reviewed p.S761 0.031 128 0% 128 41.4% 0 - - - - NULL SETX 23064 genome.wustl.edu 37 9 135205590 135205590 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015046.5 -1 reviewed p.V465 1.000 78 0% 96 12.5% 1 0% - - - NULL TTF1 7270 genome.wustl.edu 37 9 135271860 135271860 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_007344.2 -1 validated p.R606* 0.913 299 0% 399 16.8% 6 16.6% - - - NULL TTF1 7270 genome.wustl.edu 37 9 135277803 135277803 + Silent SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_007344.2 -1 validated p.L136 0.000 114 0% 159 39.6% 2 0% - - - NULL BARHL1 56751 genome.wustl.edu 37 9 135458372 135458372 + Missense_Mutation SNP C C A rs111444940 TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020064.3 +1 validated p.T63N 0.978 15 0% 26 46.2% 0 - benign(0.001) tolerated(0.31) neutral(0.027) NULL GTF3C4 9329 genome.wustl.edu 37 9 135553703 135553703 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_012204.2 +1 validated p.L233I 0.900 91 0% 78 42.3% 4 25% probably_damaging(0.979) tolerated(0.06) deleterious(0.744) NULL AK8 158067 genome.wustl.edu 37 9 135703435 135703435 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152572.2 -1 validated p.R174I 1.000 84 0% 150 20% 4 25% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ADK,superfamily_P-loop containing nucleoside triphosphate hydrolases AK8 158067 genome.wustl.edu 37 9 135739118 135739118 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152572.2 -1 validated p.E89D 0.004 265 0% 302 46% 4 75% benign(0.001) tolerated(0.95) - superfamily_P-loop containing nucleoside triphosphate hydrolases RALGDS 5900 genome.wustl.edu 37 9 135982593 135982593 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006266.2 -1 validated p.R431H 1.000 49 0% 84 45.2% 115 46% probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_RasGEF,HMMSmart_SM00147,superfamily_Ras GEF SURF4 6836 genome.wustl.edu 37 9 136230467 136230467 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_033161.2 -1 reviewed p.D238N 1.000 153 0% 209 45% 184 37.5% probably_damaging(0.966) deleterious(0) deleterious(0.853) HMMPfam_SURF4,PatternScan_SURF4 SURF4 6836 genome.wustl.edu 37 9 136231826 136231826 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_033161.2 -1 reviewed p.V145I 1.000 58 0% 79 55.7% 131 51.1% benign(0.309) tolerated(0.08) neutral(0.396) HMMPfam_SURF4 SURF4 6836 genome.wustl.edu 37 9 136234204 136234204 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_033161.2 -1 reviewed p.D56N 0.998 70 0% 57 40.4% 843 43.7% benign(0) tolerated(0.3) neutral(0.029) HMMPfam_SURF4 TMEM8C 389827 genome.wustl.edu 37 9 136384098 136384098 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001080483.2 -1 validated p.F99L 0.975 73 0% 93 47.3% 0 - benign(0.008) tolerated(1) - NULL VAV2 7410 genome.wustl.edu 37 9 136804238 136804238 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001134398.1 -1 reviewed p.R103Q 1.000 143 0% 175 35.4% 58 41.3% probably_damaging(0.984) tolerated(0.42) neutral(0.445) HMMPfam_CH,HMMSmart_SM00033,superfamily_Calponin-homology domain CH-domain COL5A1 1289 genome.wustl.edu 37 9 137591804 137591804 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000093.3 +1 reviewed p.K109N 1.000 112 0% 147 44.2% 21 0% unknown(0) deleterious(0.01) - HMMSmart_LamG,HMMSmart_TSPN,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_2 OLFM1 10439 genome.wustl.edu 37 9 138011607 138011607 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014279.4 +1 validated p.Y329 1.000 44 0% 68 58.8% 12 0% - - - HMMPfam_OLF,HMMSmart_OLF C9orf116 138162 genome.wustl.edu 37 9 138387442 138387442 + Missense_Mutation SNP G G A rs141771436 by1000genomes TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001048265.1 -1 validated p.S81L 0.001 230 0% 242 42.1% 20 45% possibly_damaging(0.674) tolerated(0.5) neutral(0.249) NULL CAMSAP1 157922 genome.wustl.edu 37 9 138703329 138703329 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015447.3 -1 validated p.K1545 1.000 444 0% 570 17.2% 18 5.5% - - - superfamily_PRC-barrel domain,HMMPfam_DUF1781 CAMSAP1 157922 genome.wustl.edu 37 9 138710423 138710423 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015447.3 -1 validated p.E1333D 1.000 50 0% 71 47.9% 26 80.7% probably_damaging(1) tolerated(0.23) deleterious(0.541) NULL CAMSAP1 157922 genome.wustl.edu 37 9 138713422 138713422 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015447.3 -1 validated p.E1029K 1.000 52 0% 66 47% 22 63.6% probably_damaging(1) tolerated(0.15) deleterious(0.741) NULL CAMSAP1 157922 genome.wustl.edu 37 9 138714016 138714016 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015447.3 -1 validated p.K831E 1.000 24 0% 36 36.1% 9 33.3% possibly_damaging(0.824) tolerated(0.87) neutral(0.312) NULL SEC16A 9919 genome.wustl.edu 37 9 139341721 139341721 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014866.1 -1 validated p.A2219T 1.000 29 0% 34 17.6% 122 25.4% possibly_damaging(0.93) deleterious(0) deleterious(0.821) NULL SEC16A 9919 genome.wustl.edu 37 9 139359005 139359005 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014866.1 -1 validated p.R1438I 1.000 54 0% 89 38.2% 45 44.4% probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL NOTCH1 4851 genome.wustl.edu 37 9 139397647 139397647 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017617.3 -1 reviewed p.I1718 1.000 37 0% 57 47.4% 29 44.8% - - - HMMPfam_NODP LCN10 414332 genome.wustl.edu 37 9 139635349 139635349 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001001712.2 -1 validated p.Y138 0.000 62 0% 83 42.2% 0 - - - - superfamily_Calycin C9orf86 55684 genome.wustl.edu 37 9 139733422 139733422 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024718.4 +1 validated p.E448K 0.995 19 0% 20 55% 118 39.8% possibly_damaging(0.737) deleterious(0.02) deleterious(0.653) NULL FBXW5 54461 genome.wustl.edu 37 9 139835553 139835553 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018998.2 -1 reviewed p.E510K 1.000 42 0% 61 47.5% 747 41.3% benign(0.01) tolerated(0.57) neutral(0.007) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 ANAPC2 29882 genome.wustl.edu 37 9 140080712 140080712 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_013366.3 -1 reviewed p.G279 0.995 18 0% 15 26.7% 44 9% - - - NULL SLC34A3 142680 genome.wustl.edu 37 9 140129139 140129139 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_080877.2 +1 reviewed p.A431T 1.000 23 0% 16 31.2% 2 50% possibly_damaging(0.793) deleterious(0) deleterious(0.742) HMMPfam_Na_Pi_cotrans ARRDC1 92714 genome.wustl.edu 37 9 140508801 140508801 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152285.2 +1 validated p.A223 0.001 26 0% 39 53.8% 365 41.9% - - - HMMPfam_Arrestin_C,superfamily_Ig_E-set EHMT1 79813 genome.wustl.edu 37 9 140685306 140685306 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000460843 +1 known p.A797T 1.000 159 0% 162 43.2% 43 58.1% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat CACNA1B 774 genome.wustl.edu 37 9 140807654 140807654 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000718.2 +1 validated p.D185Y 1.000 100 0% 133 34.6% 0 - possibly_damaging(0.697) deleterious(0.01) deleterious(0.655) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels CACNA1B 774 genome.wustl.edu 37 9 140852080 140852080 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000718.2 +1 validated p.R425I 0.985 147 0% 198 37.9% 0 - benign(0.106) deleterious(0.01) neutral(0.414) NULL CACNA1B 774 genome.wustl.edu 37 9 140907682 140907682 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000718.2 +1 validated p.I754 0.287 63 0% 73 23.3% 0 - - - - NULL CACNA1B 774 genome.wustl.edu 37 9 140954188 140954188 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000718.2 +1 validated p.A1556V 1.000 397 0% 419 44.2% 0 - benign(0.048) deleterious(0.01) neutral(0.409) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels FAM157B 100132403 genome.wustl.edu 37 9 141109872 141109872 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001145249.1 +1 inferred p.T167 0.003 183 0.5% 277 42.6% 0 - - - - NULL DIP2C 22982 genome.wustl.edu 37 10 403782 403782 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014974.2 -1 reviewed p.D964N 1.000 70 1.4% 69 37.7% 19 57.8% benign(0.118) tolerated(0.24) neutral(0.047) NULL DIP2C 22982 genome.wustl.edu 37 10 445153 445153 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014974.2 -1 reviewed p.L386 1.000 65 0% 105 46.7% 6 16.6% - - - HMMPfam_AMP-binding,superfamily_SSF56801 GTPBP4 23560 genome.wustl.edu 37 10 1058580 1058580 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_012341.2 +1 reviewed p.R507K 1.000 167 0% 150 26% 29 31% benign(0) tolerated(0.61) neutral(0.004) NULL IDI1 3422 genome.wustl.edu 37 10 1089276 1089276 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004508.2 -1 validated p.L124R 1.000 266 0% 320 26.9% 18 22.2% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_NUDIX,superfamily_NUDIX_hydrolase IDI1 3422 genome.wustl.edu 37 10 1090107 1090107 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004508.2 -1 validated p.L49I 0.000 342 0% 451 18.2% 7 28.5% benign(0.011) deleterious(0.04) neutral(0.349) NULL ADARB2 105 genome.wustl.edu 37 10 1279778 1279778 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018702.2 -1 reviewed p.R457 0.645 108 0% 154 46.8% 0 - - - - HMMPfam_A_deamin,HMMSmart_ADEAMc PITRM1 10531 genome.wustl.edu 37 10 3181185 3181185 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014889.2 -1 validated p.K943T 0.960 176 0% 201 37.3% 145 51.7% possibly_damaging(0.833) tolerated(0.41) neutral(0.333) HMMPfam_Peptidase_M16_C,superfamily_LuxS/MPP-like metallohydrolase PITRM1 10531 genome.wustl.edu 37 10 3202470 3202470 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014889.2 -1 validated p.E282K 0.998 305 0% 309 90.3% 44 95.4% benign(0.003) tolerated(0.67) neutral(0.003) HMMPfam_Peptidase_M16_C,superfamily_LuxS/MPP-like metallohydrolase KLF6 1316 genome.wustl.edu 37 10 3824209 3824209 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001300.5 -1 reviewed p.E100 1.000 159 0% 208 42.3% 7 14.2% - - - NULL AKR1E2 83592 genome.wustl.edu 37 10 4877951 4877951 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001040177.1 +1 provisional p.E137K 0.015 68 0% 117 44.4% 0 - benign(0.004) tolerated(0.17) neutral(0.059) HMMPfam_Aldo_ket_red,superfamily_NAD(P)-linked oxidoreductase AKR1C1 1645 genome.wustl.edu 37 10 5011111 5011111 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001353.5 +1 reviewed p.L182R 1.000 258 0% 272 48.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Aldo_ket_red,superfamily_Aldo/ket_red SFMBT2 57713 genome.wustl.edu 37 10 7318862 7318862 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001029880.1 -1 provisional p.V288L 1.000 209 0% 252 38.9% 0 - probably_damaging(0.989) tolerated(1) neutral(0.440) HMMSmart_SM00561,superfamily_Tudor/PWWP/MBT KIN 22944 genome.wustl.edu 37 10 7798091 7798091 + Silent SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_012311.2 -1 reviewed p.G378 1.000 159 0% 145 43.4% 0 - - - - NULL TAF3 83860 genome.wustl.edu 37 10 8007069 8007069 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_031923.2 +1 provisional p.K532N 1.000 45 0% 47 29.8% 2 0% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) NULL UPF2 26019 genome.wustl.edu 37 10 12009363 12009363 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015542.2 -1 reviewed p.N682H 1.000 294 0% 350 16.6% 10 10% benign(0.007) tolerated(0.58) neutral(0.005) HMMPfam_MIF4G,HMMSmart_SM00543,superfamily_ARM repeat CAMK1D 57118 genome.wustl.edu 37 10 12870807 12870807 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_153498.2 +1 reviewed p.S360L 0.932 107 0% 110 18.2% 0 - benign(0.141) tolerated(0.06) neutral(0.335) NULL BEND7 222389 genome.wustl.edu 37 10 13534784 13534784 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152751.2 -1 validated p.P170S 0.929 109 0% 136 47.1% 0 - possibly_damaging(0.512) tolerated(0.57) neutral(0.178) NULL PRPF18 8559 genome.wustl.edu 37 10 13642285 13642285 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003675.3 +1 reviewed p.S62 0.038 224 0% 299 40.1% 5 80% - - - NULL FAM107B 83641 genome.wustl.edu 37 10 14816578 14816578 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_031453.2 -1 predicted p.A29T 0.472 73 0% 104 34.6% 0 - benign(0) - - NULL HSPA14 51182 genome.wustl.edu 37 10 14894493 14894493 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016299.2 +1 validated p.E233* 1.000 239 0% 368 43.2% 8 12.5% - - - HMMPfam_HSP70,superfamily_Actin-like ATPase domain OLAH 55301 genome.wustl.edu 37 10 15103873 15103873 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000378225 +1 known p.S126Y 0.008 216 0% 253 42.7% 0 - benign(0.113) deleterious(0) neutral(0.454) NULL RPP38 10557 genome.wustl.edu 37 10 15145813 15145813 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001097590.1 +1 validated p.R167I 0.734 98 0% 127 19.7% 52 21.1% possibly_damaging(0.949) tolerated(0.14) deleterious(0.643) HMMPfam_Ribosomal_L7Ae,superfamily_SSF55315 PTER 9317 genome.wustl.edu 37 10 16553049 16553049 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001001484.1 +1 validated p.R282C 0.996 181 0.6% 246 40.2% 10 30% probably_damaging(0.953) tolerated(0.18) neutral(0.453) HMMPfam_PTE,superfamily_Metallo-dependent hydrolases CUBN 8029 genome.wustl.edu 37 10 16882399 16882399 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001081.3 -1 reviewed p.T3321N 0.280 224 0% 276 43.8% 11 27.2% possibly_damaging(0.833) deleterious(0.04) deleterious(0.666) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain CUBN 8029 genome.wustl.edu 37 10 16960713 16960713 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001081.3 -1 reviewed p.S2303N 0.000 196 0% 229 49.8% 2 100% benign(0.15) tolerated(0.58) neutral(0.018) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain CUBN 8029 genome.wustl.edu 37 10 17087978 17087978 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001081.3 -1 reviewed p.D1149Y 0.000 276 0% 423 46.3% 2 100% benign(0.002) tolerated(0.85) neutral(0.001) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain CUBN 8029 genome.wustl.edu 37 10 17110148 17110148 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001081.3 -1 reviewed p.E975K 0.000 215 0% 312 45.5% 0 - benign(0) tolerated(0.93) - HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain MRC1 4360 genome.wustl.edu 37 10 17875826 17875826 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001009567.1 +1 reviewed p.T264P 1.000 69 0% 100 89% 0 - benign(0.388) deleterious(0.04) deleterious(0.473) HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like ARL5B 221079 genome.wustl.edu 37 10 18962973 18962973 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_178815.3 +1 validated p.T134A 1.000 176 0% 246 42.7% 13 61.5% benign(0.006) tolerated(0.09) neutral(0.296) HMMSmart_SM00178,HMMSmart_SM00177,HMMPfam_Arf,superfamily_P-loop containing nucleoside triphosphate hydrolases PLXDC2 84898 genome.wustl.edu 37 10 20465997 20465997 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032812.7 +1 provisional p.S318L 1.000 167 0% 199 50.3% 51 33.3% possibly_damaging(0.95) deleterious(0) deleterious(0.838) NULL NEBL 10529 genome.wustl.edu 37 10 21098812 21098812 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006393.2 -1 reviewed p.R845L 1.000 200 0.5% 273 39.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL NEBL 10529 genome.wustl.edu 37 10 21129745 21129745 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006393.2 -1 reviewed p.K421Q 0.999 386 0% 445 24.7% 0 - possibly_damaging(0.906) tolerated(0.08) deleterious(0.659) HMMPfam_Nebulin PIP4K2A 5305 genome.wustl.edu 37 10 22862255 22862255 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005028.4 -1 reviewed p.R208 1.000 115 0.9% 155 47.1% 11 36.3% - - - HMMPfam_PIP5K,HMMSmart_SM00330,superfamily_SAICAR synthase-like MSRB2 22921 genome.wustl.edu 37 10 23393122 23393122 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_012228.3 +1 validated p.K56N 1.000 141 0% 160 38.1% 51 39.2% probably_damaging(0.959) deleterious(0.04) deleterious(0.752) HMMPfam_SelR,superfamily_Mss4_like KIAA1217 56243 genome.wustl.edu 37 10 24831891 24831891 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_019590.3 +1 validated p.R1231I 0.007 64 0% 75 32% 6 33.3% possibly_damaging(0.537) deleterious(0.02) deleterious(0.565) NULL KIAA1217 56243 genome.wustl.edu 37 10 24834820 24834820 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_019590.3 +1 validated p.S1800Y 1.000 331 0% 405 40.5% 33 48.4% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ARHGAP21 57584 genome.wustl.edu 37 10 24878204 24878204 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020824.3 -1 validated p.S1393Y 1.000 215 0% 239 39.7% 1 0% probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL ARHGAP21 57584 genome.wustl.edu 37 10 24880896 24880896 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020824.3 -1 validated p.R1308* 0.606 302 0% 402 42.5% 19 5.2% - - - HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP THNSL1 79896 genome.wustl.edu 37 10 25312197 25312197 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024838.4 +1 validated p.Q15 0.054 137 0% 148 44.6% 1 0% - - - NULL THNSL1 79896 genome.wustl.edu 37 10 25313293 25313293 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024838.4 +1 validated p.D381Y 1.000 229 0% 264 47% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PALP,superfamily_Tryptophan synthase beta subunit-like PLP-dependent enzymes GPR158 57512 genome.wustl.edu 37 10 25887578 25887578 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020752.2 +1 validated p.P1008H 1.000 55 0% 66 12.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL MYO3A 53904 genome.wustl.edu 37 10 26241122 26241122 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017433.4 +1 reviewed p.G28D 1.000 171 0% 200 33.5% 0 - probably_damaging(0.989) deleterious(0) deleterious(0.884) HMMSmart_S_TKc,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase MYO3A 53904 genome.wustl.edu 37 10 26492002 26492002 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017433.4 +1 reviewed p.E1566* 0.971 135 0% 201 37.8% 0 - - - - NULL ABI1 10006 genome.wustl.edu 37 10 27040543 27040543 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005470.3 -1 validated p.K445N 0.998 228 0% 298 41.9% 21 38% benign(0.148) deleterious(0.01) neutral(0.419) superfamily_SH3-domain YME1L1 10730 genome.wustl.edu 37 10 27400948 27400948 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_139312.1 -1 reviewed p.E760D 1.000 548 0% 611 43.5% 22 45.4% benign(0.029) tolerated(0.36) neutral(0.022) HMMPfam_Peptidase_M41 MASTL 84930 genome.wustl.edu 37 10 27459222 27459222 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032844.3 +1 reviewed p.R445I 1.000 71 0% 72 44.4% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Kinase_like LOC100288039 100288039 genome.wustl.edu 37 10 27568184 27568184 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_002342965.1 +1 model p.K97N 0.181 169 0% 251 44.6% 0 - - - - NULL LOC100288039 100288039 genome.wustl.edu 37 10 27570252 27570252 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_002342965.1 +1 model p.H116P 0.348 1176 0% 1320 21.7% 0 - - - - NULL LOC100288039 100288039 genome.wustl.edu 37 10 27602735 27602735 + Silent SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_002342965.1 +1 model p.Q233 0.001 28 0% 24 41.7% 0 - - - - HMMPfam_Ank,superfamily_Ankyrin repeat PTCHD3 374308 genome.wustl.edu 37 10 27687295 27687295 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001034842.3 -1 validated p.I744 0.279 55 0% 62 41.9% 0 - - - - HMMPfam_Patched PTCHD3 374308 genome.wustl.edu 37 10 27702995 27702995 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001034842.3 -1 validated p.S62L 0.000 8 0.000 25 0.280 0 - benign(0) tolerated(0.11) neutral(0.272) NULL MPP7 143098 genome.wustl.edu 37 10 28413985 28413985 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_173496.3 -1 validated p.A161 0.225 312 0% 383 45.2% 1 100% - - - HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ WAC 51322 genome.wustl.edu 37 10 28884783 28884783 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016628.3 +1 reviewed p.T244 1.000 132 0% 162 44.4% 75 30.6% - - - NULL SVIL 6840 genome.wustl.edu 37 10 29769535 29769535 + Missense_Mutation SNP G G C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_021738.2 -1 reviewed p.Q1770E 0.997 138 0% 176 47.2% 63 41.2% benign(0.107) tolerated(0.34) neutral(0.032) HMMSmart_SM00262,superfamily_Actin depolymerizing proteins KIAA1462 57608 genome.wustl.edu 37 10 30316619 30316619 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020848.2 -1 validated p.L820I 1.000 56 0% 80 42.5% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL LYZL2 119180 genome.wustl.edu 37 10 30915092 30915092 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_183058.2 -1 validated p.F126 0.019 151 0% 208 42.3% 0 - - - - HMMPfam_Lys,HMMSmart_LYZ1,superfamily_SSF53955 LOC645954 645954 genome.wustl.edu 37 10 30980151 30980151 + RNA SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XR_017086.3 +1 model NULL 0.982 96 0% 161 51.6% 0 - - - - - ZNF438 220929 genome.wustl.edu 37 10 31138591 31138591 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001143766.1 -1 validated p.S248Y 0.007 235 0% 317 15.5% 4 0% possibly_damaging(0.711) deleterious(0) deleterious(0.702) NULL ZEB1 6935 genome.wustl.edu 37 10 31810359 31810359 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_030751.5 +1 reviewed p.R699I 1.000 110 0% 155 27.7% 2 0% possibly_damaging(0.502) deleterious(0) deleterious(0.612) NULL ARHGAP12 94134 genome.wustl.edu 37 10 32115310 32115310 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000454919 -1 known p.E155* 1.000 233 0.4% 201 39.8% 10 60% probably_damaging(0.997) deleterious(0) deleterious(0.911) superfamily_PH domain-like KIF5B 3799 genome.wustl.edu 37 10 32324580 32324580 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004521.2 -1 validated p.R278* 1.000 211 0% 260 43.1% 17 0% - - - HMMPfam_Kinesin,HMMSmart_KISc,superfamily_SSF52540 C10orf68 79741 genome.wustl.edu 37 10 33137639 33137639 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024688.2 +1 validated p.E539D 0.000 122 0% 156 41.7% 0 - possibly_damaging(0.791) tolerated(0.28) neutral(0.328) NULL ITGB1 3688 genome.wustl.edu 37 10 33197396 33197396 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000488427 -1 known p.W12* 1.000 279 0% 337 41.8% 536 42.1% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PARD3 56288 genome.wustl.edu 37 10 34420423 34420423 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_019619.3 -1 validated p.R1173C 1.000 420 0% 512 38.3% 24 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CREM 1390 genome.wustl.edu 37 10 35484998 35484998 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_182724.1 +1 reviewed p.R3K 0.000 234 0% 296 40.5% 4 0% benign(0.002) deleterious(0) neutral(0.445) NULL CCNY 219771 genome.wustl.edu 37 10 35819147 35819147 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_145012.4 +1 validated p.T185 0.035 76 0% 107 50.5% 92 41.3% - - - HMMSmart_SM00385,HMMPfam_Cyclin_N,superfamily_Cyclin-like ANKRD30A 91074 genome.wustl.edu 37 10 37438608 37438608 + Splice_Site SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_052997.2 +1 validated e10+1 0.341 716 0% 946 45.8% 0 - - - - - ANKRD30A 91074 genome.wustl.edu 37 10 37438747 37438747 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_052997.2 +1 validated p.E483* 0.000 758 0% 944 44.6% 0 - - - - NULL ANKRD30A 91074 genome.wustl.edu 37 10 37447484 37447484 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_052997.2 +1 validated p.E568K 0.028 442 0% 578 40.5% 0 - benign(0.224) deleterious(0) neutral(0.467) NULL ANKRD30A 91074 genome.wustl.edu 37 10 37466660 37466660 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000374660 +1 known p.D774Y 0.000 364 0% 426 15.5% 0 - possibly_damaging(0.882) deleterious(0) deleterious(0.789) NULL ZNF248 57209 genome.wustl.edu 37 10 38121764 38121764 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_021045.1 -1 provisional p.K173N 0.230 162 0% 225 41.3% 0 - probably_damaging(0.976) deleterious(0) deleterious(0.863) NULL ZNF248 57209 genome.wustl.edu 37 10 38121921 38121921 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_021045.1 -1 provisional p.K121T 0.071 89 0% 145 35.2% 0 - benign(0.318) tolerated(0.09) neutral(0.396) NULL ENSG00000228637 0 genome.wustl.edu 37 10 42396442 42396442 + RNA SNP G G A rs68058204 byCluster;byFrequency TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000439345 -1 novel NULL 0.000 78 1.3% 74 5.4% 1 0% - - - - CCNYL2 414194 genome.wustl.edu 37 10 42924581 42924581 + Silent SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000426433 -1 known p.L151 1.000 39 0% 64 90.6% 0 - - - - HMMSmart_CYCLIN,superfamily_Cyclin_like ZNF33B 7582 genome.wustl.edu 37 10 43088103 43088103 + Silent SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006955.1 -1 provisional p.I765 0.815 322 0% 352 17.9% 2 0% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF33B 7582 genome.wustl.edu 37 10 43089311 43089311 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006955.1 -1 provisional p.G363* 1.000 271 0.7% 346 17.1% 6 16.6% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 LOC728064 728064 genome.wustl.edu 37 10 43206650 43206650 + RNA SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XR_015196.2 -1 model NULL 0.992 117 0% 161 45.3% 0 - - - - - CSGALNACT2 55454 genome.wustl.edu 37 10 43659443 43659443 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018590.3 +1 provisional p.I370 0.997 524 0% 592 44.6% 4 100% - - - HMMPfam_CHGN,superfamily_Nucleotide-diphospho-sugar transferases ZNF32 7580 genome.wustl.edu 37 10 44140135 44140135 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001005368.1 -1 validated p.S62L 0.996 119 0% 165 43% 18 33.3% probably_damaging(0.955) tolerated(0.2) neutral(0.448) NULL ALOX5 240 genome.wustl.edu 37 10 45935921 45935921 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000698.2 +1 reviewed p.S342L 1.000 116 0% 131 43.5% 3 0% benign(0.129) deleterious(0) neutral(0.456) HMMPfam_Lipoxygenase,superfamily_Lipoxygenase FAM21C 253725 genome.wustl.edu 37 10 46224452 46224452 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015262.2 +1 validated p.S90Y 1.000 408 0.2% 516 40.9% 15 33.3% probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL FAM21C 253725 genome.wustl.edu 37 10 46250493 46250493 + Silent SNP C C A rs28673841 TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015262.2 +1 validated p.L450 0.998 400 0% 484 44.2% 3 0% - - - NULL FAM35B 414241 genome.wustl.edu 37 10 46927867 46927867 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000301038 +1 known p.S129Y 0.930 216 0% 299 33.4% 2 0% possibly_damaging(0.911) deleterious(0.02) deleterious(0.746) NULL PPYR1 5540 genome.wustl.edu 37 10 47087415 47087415 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005972.4 +1 validated p.R211H 0.838 85 0% 111 14.4% 0 - benign(0.058) deleterious(0) neutral(0.448) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like PPYR1 5540 genome.wustl.edu 37 10 47087496 47087496 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005972.4 +1 validated p.Y238C 0.985 51 0% 92 12% 0 - possibly_damaging(0.823) deleterious(0.02) deleterious(0.695) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ZNF488 118738 genome.wustl.edu 37 10 48371149 48371149 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_153034.2 +1 provisional p.R206Q 0.000 134 0% 165 46.7% 1 100% benign(0.126) tolerated(0.6) neutral(0.015) NULL FRMPD2 143162 genome.wustl.edu 37 10 49365380 49365380 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001018071.3 -1 reviewed p.S1305 0.000 513 0% 588 26.7% 0 - - - - NULL FRMPD2 143162 genome.wustl.edu 37 10 49393681 49393681 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001018071.3 -1 reviewed p.K758N 0.090 242 0% 369 43.1% 0 - benign(0.009) tolerated(0.11) neutral(0.272) NULL MAPK8 5599 genome.wustl.edu 37 10 49612989 49612989 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_139047.1 +1 reviewed p.E73* 1.000 162 0% 194 41.8% 2 0% - - - HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_MAPK,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase WDFY4 57705 genome.wustl.edu 37 10 50177249 50177249 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020945.1 +1 validated p.F2909V 1.000 118 0% 195 35.9% 5 80% probably_damaging(0.99) deleterious(0.01) deleterious(0.847) superfamily_WD40 repeat-like ERCC6 2074 genome.wustl.edu 37 10 50667076 50667076 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000124.2 -1 reviewed p.E1423* 1.000 121 0% 152 41.4% 3 33.3% - - - NULL ERCC6 2074 genome.wustl.edu 37 10 50669518 50669518 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000124.2 -1 reviewed p.R1288Q 0.998 73 0% 116 55.2% 7 57.1% probably_damaging(1) tolerated(0.05) deleterious(0.845) NULL SLC18A3 6572 genome.wustl.edu 37 10 50819176 50819176 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003055.2 +1 reviewed p.S130 1.000 34 0% 42 40.5% 0 - - - - HMMPfam_MFS_1,superfamily_MFS general substrate transporter ASAH2 56624 genome.wustl.edu 37 10 52002998 52002998 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_019893.2 -1 validated p.I158 0.030 223 0% 214 45.3% 0 - - - - HMMPfam_Ceramidase_alk A1CF 29974 genome.wustl.edu 37 10 52566549 52566549 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_138932.1 -1 reviewed p.T575 0.207 212 0% 266 40.6% 0 - - - - NULL PRKG1 5592 genome.wustl.edu 37 10 52751172 52751172 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001098512.1 +1 validated p.L12I 1.000 47 0% 67 32.8% 0 - benign(0.224) tolerated(0.49) neutral(0.033) NULL PRKG1 5592 genome.wustl.edu 37 10 53822346 53822346 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006258.2 +1 validated p.R297K 1.000 161 0% 220 37.3% 0 - benign(0.002) tolerated(0.22) neutral(0.042) HMMPfam_cNMP_binding,HMMSmart_SM00100,superfamily_cAMP-binding domain-like TFAM 7019 genome.wustl.edu 37 10 60148513 60148513 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000395377 +1 known p.D107N 0.007 217 0% 254 18.5% 0 - - - - superfamily_HMG-box TFAM 7019 genome.wustl.edu 37 10 60154759 60154759 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003201.1 +1 provisional p.M222I 0.990 224 0% 301 42.2% 9 22.2% possibly_damaging(0.902) deleterious(0) deleterious(0.801) superfamily_HMG-box BICC1 80114 genome.wustl.edu 37 10 60548181 60548181 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001080512.1 +1 reviewed p.R200W 1.000 268 0% 336 42% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00322,superfamily_Eukaryotic type KH-domain (KH-domain type I) FAM13C 220965 genome.wustl.edu 37 10 61012573 61012573 + Silent SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_198215.3 -1 validated p.T506A 1.000 235 0% 298 39.6% 4 25% - - - NULL SLC16A9 220963 genome.wustl.edu 37 10 61413680 61413680 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_194298.2 -1 validated p.W368* 1.000 158 0% 176 43.8% 5 40% - - - HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter CCDC6 8030 genome.wustl.edu 37 10 61566784 61566784 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005436.3 -1 validated p.E300D 1.000 301 0% 389 40.1% 36 41.6% probably_damaging(0.999) tolerated(0.1) deleterious(0.777) HMMPfam_DUF2046 ANK3 288 genome.wustl.edu 37 10 61833307 61833307 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020987.2 -1 reviewed p.H2444 1.000 199 0% 233 49.8% 0 - - - - NULL ANK3 288 genome.wustl.edu 37 10 61847919 61847919 + Nonsense_Mutation SNP G G A rs142673853 TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020987.2 -1 reviewed p.R1176* 1.000 106 0% 133 42.1% 3 0% - - - NULL NRBF2 29982 genome.wustl.edu 37 10 64913621 64913621 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_030759.3 +1 validated p.E169 1.000 275 0% 297 41.8% 3 33.3% - - - HMMPfam_DUF1875 NRBF2 29982 genome.wustl.edu 37 10 64913733 64913733 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_030759.3 +1 validated p.L207I 0.998 149 0% 181 40.9% 9 33.3% benign(0.335) tolerated(0.11) neutral(0.377) HMMPfam_DUF1875 JMJD1C 221037 genome.wustl.edu 37 10 64975097 64975097 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032776.1 -1 validated p.R314K 1.000 776 0% 930 42.5% 5 20% probably_damaging(0.978) deleterious(0) deleterious(0.865) NULL HERC4 26091 genome.wustl.edu 37 10 69832788 69832788 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_022079.2 -1 validated p.R26S 1.000 213 0% 286 48.3% 0 - benign(0.416) tolerated(0.25) neutral(0.172) superfamily_RCC1/BLIP-II MYPN 84665 genome.wustl.edu 37 10 69881327 69881327 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032578.2 +1 validated p.F44 0.032 48 2.1% 81 38.3% 0 - - - - NULL MYPN 84665 genome.wustl.edu 37 10 69935101 69935101 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032578.2 +1 validated p.K862N 1.000 254 0% 285 33.7% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL MYPN 84665 genome.wustl.edu 37 10 69957130 69957130 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032578.2 +1 validated p.E1060D 1.000 136 0% 158 39.9% 0 - benign(0) tolerated(0.19) neutral(0.050) NULL TET1 80312 genome.wustl.edu 37 10 70332237 70332237 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_030625.2 +1 validated p.K48Q 0.998 117 0.9% 129 48.1% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL TET1 80312 genome.wustl.edu 37 10 70333128 70333128 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_030625.2 +1 validated p.H345N 0.000 110 0% 123 42.3% 0 - benign(0.029) deleterious(0.04) neutral(0.350) NULL TET1 80312 genome.wustl.edu 37 10 70404628 70404628 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_030625.2 +1 validated p.K714N 1.000 182 0% 247 37.2% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL STOX1 219736 genome.wustl.edu 37 10 70644382 70644382 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001130161.2 +1 reviewed p.S277Y 0.001 99 0% 150 46% 7 42.8% benign(0.163) deleterious(0.05) neutral(0.360) NULL DDX50 79009 genome.wustl.edu 37 10 70706348 70706348 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024045.1 +1 reviewed p.R726* 1.000 31 0% 71 40.8% 39 38.4% - - - NULL HKDC1 80201 genome.wustl.edu 37 10 71005988 71005988 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_025130.3 +1 validated p.E343D 1.000 68 0% 89 14.6% 20 10% benign(0.089) deleterious(0.01) neutral(0.412) HMMPfam_Hexokinase_2,superfamily_Actin-like ATPase domain ADAMTS14 140766 genome.wustl.edu 37 10 72494964 72494964 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_139155.2 +1 reviewed p.A467 0.936 66 0% 71 39.4% 2 0% - - - NULL CDH23 64072 genome.wustl.edu 37 10 73462391 73462391 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_022124.5 +1 reviewed p.Q891H 1.000 121 0% 151 41.7% 1 0% possibly_damaging(0.904) tolerated(0.57) neutral(0.364) superfamily_Cadherin-like CHST3 9469 genome.wustl.edu 37 10 73767039 73767039 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004273.4 +1 reviewed p.D84N 0.741 64 0% 131 44.3% 19 26.3% probably_damaging(0.989) tolerated(0.3) neutral(0.468) NULL CHST3 9469 genome.wustl.edu 37 10 73768179 73768179 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004273.4 +1 reviewed p.N464D 1.000 4 0.000 12 0.583 20 30% benign(0.382) tolerated(0.26) neutral(0.156) NULL ASCC1 51008 genome.wustl.edu 37 10 73963229 73963229 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015947.2 -1 validated p.K89R 0.999 544 0.2% 531 25.8% 8 25% benign(0.082) tolerated(0.17) neutral(0.065) HMMSmart_KH,HMMPfam_KH_1,superfamily_SSF54791 P4HA1 5033 genome.wustl.edu 37 10 74790090 74790090 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000917.3 -1 reviewed p.R396L 1.000 279 0% 341 45.2% 18 55.5% possibly_damaging(0.922) deleterious(0.01) deleterious(0.777) HMMSmart_SM00702 P4HA1 5033 genome.wustl.edu 37 10 74804803 74804803 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001017962.2 -1 reviewed p.R362* 1.000 179 0% 187 39% 6 0% - - - HMMSmart_SM00702 PPP3CB 5532 genome.wustl.edu 37 10 75227316 75227316 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001142353.1 -1 validated p.E368G 1.000 101 0% 123 43.9% 10 50% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_SSF56300 AGAP5 729092 genome.wustl.edu 37 10 75436521 75436521 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001144000.1 -1 validated p.D181N 0.999 84 0% 89 58.4% 8 25% benign(0.253) deleterious(0.04) neutral(0.375) NULL FUT11 170384 genome.wustl.edu 37 10 75535215 75535215 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000394790 +1 known p.R458I 0.013 60 0% 75 29.3% 0 - unknown(0) - - NULL VCL 7414 genome.wustl.edu 37 10 75855510 75855510 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014000.2 +1 reviewed p.R547Q 0.992 53 0% 58 41.4% 110 31.8% benign(0.001) tolerated(0.44) neutral(0.013) HMMPfam_Vinculin,superfamily_alpha-catenin/vinculin ADK 132 genome.wustl.edu 37 10 76153970 76153970 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006721.2 +1 reviewed p.I115 1.000 169 0.6% 241 43.6% 27 66.6% - - - HMMPfam_PfkB,superfamily_Ribokinase-like KCNMA1 3778 genome.wustl.edu 37 10 78839273 78839273 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000372403 -1 known p.E471* 1.000 170 0% 190 40.5% 7 28.5% probably_damaging(0.998) deleterious(0.02) deleterious(0.857) superfamily_NAD(P)-binding Rossmann-fold domains POLR3A 11128 genome.wustl.edu 37 10 79753109 79753109 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_007055.3 -1 validated p.S878Y 1.000 109 0% 165 40% 9 44.4% possibly_damaging(0.929) deleterious(0) deleterious(0.821) HMMPfam_RNA_pol_Rpb1_5,superfamily_SSF64484 ZMIZ1 57178 genome.wustl.edu 37 10 81061875 81061875 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020338.3 +1 validated p.F677 0.993 28 0% 29 31% 147 36.7% - - - NULL EIF5AL1 143244 genome.wustl.edu 37 10 81272652 81272652 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001099692.1 +1 validated p.N83D 1.000 245 0% 343 35% 730 0.2% benign(0.204) tolerated(0.21) neutral(0.064) superfamily_Transl_SH3_like,HMMPfam_eIF-5a FAM213A 84293 genome.wustl.edu 37 10 82187112 82187112 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032333.4 +1 validated p.R146W 0.996 196 0% 280 41.8% 38 42.1% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SH2D4B 387694 genome.wustl.edu 37 10 82331288 82331288 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_207372.2 +1 validated p.R150H 1.000 76 0% 84 36.9% 0 - probably_damaging(0.999) tolerated(0.06) deleterious(0.813) NULL NRG3 10718 genome.wustl.edu 37 10 84118524 84118524 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001010848.3 +1 reviewed p.E285K 1.000 112 0% 134 47.8% 0 - probably_damaging(0.995) deleterious(0.04) deleterious(0.806) superfamily_SSF57196 NRG3 10718 genome.wustl.edu 37 10 84118593 84118593 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001010848.3 +1 reviewed p.E308K 1.000 98 0% 135 34.8% 0 - probably_damaging(0.995) tolerated(0.31) deleterious(0.485) HMMPfam_EGF,HMMSmart_EGF,superfamily_SSF57196 CDHR1 92211 genome.wustl.edu 37 10 85968537 85968537 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_033100.2 +1 reviewed p.R407Q 1.000 193 0% 226 41.2% 0 - probably_damaging(1) tolerated(0.19) deleterious(0.549) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like RGR 5995 genome.wustl.edu 37 10 86014145 86014145 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002921.3 +1 reviewed p.T196 0.000 198 0% 251 42.2% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like GRID1 2894 genome.wustl.edu 37 10 87362401 87362401 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017551.2 -1 reviewed p.D887Y 1.000 80 0% 104 37.5% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL LDB3 11155 genome.wustl.edu 37 10 88459070 88459070 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001080115.1 +1 reviewed p.F311S 1.000 99 0% 129 51.2% 0 - unknown(0) deleterious(0) - NULL PAPSS2 9060 genome.wustl.edu 37 10 89503202 89503202 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001015880.1 +1 reviewed p.R432H 0.998 94 1.1% 123 51.2% 5 0% probably_damaging(0.98) tolerated(0.06) deleterious(0.746) HMMPfam_ATP-sulfurylase,superfamily_SSF52374 PTEN 5728 genome.wustl.edu 37 10 89653791 89653791 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000371953 +1 known p.P30Q 1.000 370 0.3% 433 43.4% 31 22.5% benign(0.429) tolerated(0.22) neutral(0.182) HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II PTEN 5728 genome.wustl.edu 37 10 89720857 89720857 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000371953 +1 known p.Y336* 0.996 82 0% 104 45.2% 10 20% - - - superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_PTEN_C2 LIPJ 142910 genome.wustl.edu 37 10 90365427 90365427 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001010939.2 +1 validated p.G278V 0.911 307 0% 407 41.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Abhydrolase_1,superfamily_alpha/beta-Hydrolases LIPJ 142910 genome.wustl.edu 37 10 90366637 90366637 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001010939.2 +1 validated p.I358 0.864 137 0% 167 37.7% 0 - - - - superfamily_alpha/beta-Hydrolases LIPF 8513 genome.wustl.edu 37 10 90428502 90428502 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004190.2 +1 reviewed p.F137 1.000 195 0% 233 47.6% 0 - - - - HMMPfam_Abhydrolase_1,superfamily_alpha/beta-Hydrolases KIF20B 9585 genome.wustl.edu 37 10 91488915 91488915 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016195.2 +1 validated p.E728* 0.996 83 0% 94 41.5% 0 - - - - NULL KIF20B 9585 genome.wustl.edu 37 10 91498065 91498065 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016195.2 +1 validated p.V1116A 0.001 73 0% 94 53.2% 1 0% benign(0.099) tolerated(0.2) neutral(0.057) NULL HECTD2 143279 genome.wustl.edu 37 10 93244317 93244317 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_182765.3 +1 validated p.S292Y 1.000 273 0.4% 306 45.4% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL HECTD2 143279 genome.wustl.edu 37 10 93258692 93258692 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_182765.3 +1 validated p.S607A 1.000 167 0% 186 48.9% 0 - benign(0.001) tolerated(0.07) neutral(0.319) HMMPfam_HECT,HMMSmart_HECTc,superfamily_HECT PPP1R3C 5507 genome.wustl.edu 37 10 93390585 93390585 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005398.4 -1 provisional p.S18L 0.999 102 0% 85 44.7% 0 - possibly_damaging(0.61) tolerated(0.2) neutral(0.261) NULL BTAF1 9044 genome.wustl.edu 37 10 93749118 93749118 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003972.2 +1 validated p.K879Q 1.000 61 0% 101 52.5% 6 50% possibly_damaging(0.501) deleterious(0.02) deleterious(0.550) superfamily_ARM repeat BTAF1 9044 genome.wustl.edu 37 10 93786997 93786997 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003972.2 +1 validated p.E1782D 0.997 348 0% 407 43% 7 28.5% benign(0) tolerated(0.64) neutral(0.003) NULL MARCH5 54708 genome.wustl.edu 37 10 94109593 94109593 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017824.4 +1 validated p.L240S 1.000 144 0% 257 26.1% 45 28.8% probably_damaging(0.994) deleterious(0) deleterious(0.897) NULL EXOC6 54536 genome.wustl.edu 37 10 94818012 94818012 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_019053.4 +1 reviewed p.F772C 1.000 135 0% 187 40.6% 11 63.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sec15 PDE6C 5146 genome.wustl.edu 37 10 95372929 95372929 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006204.3 +1 reviewed p.T149 0.975 14 0% 16 62.5% 0 - - - - HMMPfam_GAF,HMMSmart_GAF,superfamily_SSF55781 PLCE1 51196 genome.wustl.edu 37 10 96030348 96030348 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016341.3 +1 reviewed p.E1499* 1.000 160 0% 190 43.2% 6 0% - - - HMMPfam_PI-PLC-X,HMMSmart_SM00148,superfamily_PLC-like phosphodiesterases NOC3L 64318 genome.wustl.edu 37 10 96112684 96112684 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_022451.9 -1 provisional p.R276Q 0.997 354 0% 401 15.7% 1 0% probably_damaging(1) tolerated(0.32) deleterious(0.524) HMMPfam_NOC3p TBC1D12 23232 genome.wustl.edu 37 10 96269884 96269884 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015188.1 +1 validated p.L546S 1.000 340 0% 430 45.8% 8 25% benign(0.354) deleterious(0.03) deleterious(0.476) HMMPfam_TBC,HMMSmart_TBC,superfamily_RabGAP_TBC HELLS 3070 genome.wustl.edu 37 10 96354548 96354548 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018063.3 +1 reviewed p.D729N 1.000 302 0% 354 41.2% 2 0% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) superfamily_P-loop containing nucleoside triphosphate hydrolases CYP2C18 1562 genome.wustl.edu 37 10 96454723 96454723 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000772.2 +1 reviewed p.V177 0.990 488 0% 451 39.5% 0 - - - - HMMPfam_p450,superfamily_Cytochrome P450 CYP2C18 1562 genome.wustl.edu 37 10 96493055 96493055 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000772.2 +1 reviewed p.G384D 0.986 454 0% 566 41.5% 1 100% possibly_damaging(0.754) tolerated(0.13) deleterious(0.530) HMMPfam_p450,superfamily_Cytochrome P450 ENTPD1 953 genome.wustl.edu 37 10 97620254 97620254 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001776.5 +1 validated p.K368T 0.820 274 0% 381 13.1% 1 0% benign(0.004) tolerated(0.13) neutral(0.253) HMMPfam_GDA1_CD39 TLL2 7093 genome.wustl.edu 37 10 98180728 98180728 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_012465.3 -1 validated p.R303Q 1.000 250 0% 368 41% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Astacin,superfamily_SSF55486 C10orf12 26148 genome.wustl.edu 37 10 98742367 98742367 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015652.2 +1 predicted p.P407H 0.510 66 0% 61 26.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL C10orf12 26148 genome.wustl.edu 37 10 98742611 98742611 + Missense_Mutation SNP G G T rs63063661 TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015652.2 +1 predicted p.E488D 1.000 32 0% 42 50% 0 - possibly_damaging(0.738) deleterious(0) deleterious(0.715) NULL ARHGAP19 84986 genome.wustl.edu 37 10 99023341 99023341 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032900.4 -1 validated p.R150Q 1.000 184 0% 212 49.5% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP CRTAC1 55118 genome.wustl.edu 37 10 99640121 99640121 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000298819 -1 known p.S554L 0.358 64 0% 84 41.7% 0 - benign(0.104) - - NULL C10orf28 27291 genome.wustl.edu 37 10 99968068 99968068 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014472.4 +1 validated p.P66L 0.000 115 0% 144 37.5% 0 - benign(0.005) tolerated(0.08) neutral(0.300) NULL C10orf28 27291 genome.wustl.edu 37 10 99968492 99968492 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014472.4 +1 validated p.I207M 0.048 120 0% 170 19.4% 3 0% benign(0) tolerated(0.16) neutral(0.059) NULL PYROXD2 84795 genome.wustl.edu 37 10 100155028 100155028 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032709.2 -1 validated p.S237Y 1.000 56 0% 78 44.9% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF51905 ABCC2 1244 genome.wustl.edu 37 10 101577134 101577134 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000392.3 +1 reviewed p.G722R 1.000 111 0% 154 32.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases DNMBP 23268 genome.wustl.edu 37 10 101656046 101656046 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015221.2 -1 validated p.H1010R 1.000 249 0% 336 44.9% 8 25% probably_damaging(0.955) tolerated(0.84) neutral(0.399) HMMPfam_BAR,HMMSmart_SM00721 DNMBP 23268 genome.wustl.edu 37 10 101657828 101657828 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000342239 -1 known p.I979L 0.000 180 0.6% 195 37.9% 0 - benign(0) tolerated(0.44) neutral(0.013) NULL CPN1 1369 genome.wustl.edu 37 10 101816793 101816793 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001308.2 -1 reviewed p.A330S 1.000 86 0% 92 16.3% 0 - benign(0.055) tolerated(0.83) neutral(0.004) HMMPfam_Peptidase_M14,HMMSmart_SM00631,superfamily_Zn-dependent exopeptidases PKD2L1 9033 genome.wustl.edu 37 10 102056850 102056850 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016112.2 -1 reviewed p.I358V 0.000 159 0% 204 51% 0 - benign(0) tolerated(0.49) neutral(0.011) HMMPfam_PKD_channel,superfamily_Voltage-gated potassium channels SCD 6319 genome.wustl.edu 37 10 102112203 102112203 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005063.4 +1 validated p.R131W 0.666 136 0% 185 46.5% 22 45.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_FA_desaturase HIF1AN 55662 genome.wustl.edu 37 10 102296290 102296290 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017902.2 +1 validated p.F100L 1.000 195 0% 205 47.3% 7 57.1% probably_damaging(0.995) tolerated(0.06) deleterious(0.780) superfamily_SSF51197 HIF1AN 55662 genome.wustl.edu 37 10 102296416 102296416 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017902.2 +1 validated p.E142 0.988 90 0% 96 50% 18 55.5% - - - superfamily_SSF51197 C10orf2 56652 genome.wustl.edu 37 10 102750629 102750629 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_021830.4 +1 reviewed p.I532 0.900 117 0% 179 40.8% 23 52.1% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases LOC100289509 100289509 genome.wustl.edu 37 10 103588804 103588804 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_002343030.1 +1 model p.S17 0.000 45 0% 51 49% 1 0% - - - NULL C10orf76 79591 genome.wustl.edu 37 10 103792895 103792895 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024541.2 -1 validated p.S65Y 1.000 213 0% 275 41.5% 14 50% possibly_damaging(0.92) tolerated(0.1) deleterious(0.657) NULL PPRC1 23082 genome.wustl.edu 37 10 103901624 103901624 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015062.3 +1 reviewed p.A1120V 0.652 56 0% 65 35.4% 34 23.5% possibly_damaging(0.949) tolerated(0.09) deleterious(0.690) NULL NOLC1 9221 genome.wustl.edu 37 10 103920558 103920558 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004741.3 +1 validated p.E483D 0.013 56 0% 77 40.3% 53 50.9% unknown(0) tolerated(0.47) - NULL NOLC1 9221 genome.wustl.edu 37 10 103921323 103921323 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004741.3 +1 validated p.K584N 1.000 80 0% 86 34.9% 24 45.8% probably_damaging(0.99) deleterious(0.03) deleterious(0.806) NULL NOLC1 9221 genome.wustl.edu 37 10 103922004 103922004 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004741.3 +1 validated p.S693Y 1.000 90 0% 102 49% 62 48.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SRP40_C PSD 5662 genome.wustl.edu 37 10 104163634 104163634 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002779.3 -1 provisional p.E937* 1.000 44 0% 54 16.7% 5 0% - - - NULL NT5C2 22978 genome.wustl.edu 37 10 104851364 104851364 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001134373.1 -1 validated p.E390K 1.000 138 0% 149 43% 13 53.8% possibly_damaging(0.701) tolerated(0.58) neutral(0.257) HMMPfam_5_nucleotid NT5C2 22978 genome.wustl.edu 37 10 104852930 104852930 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001134373.1 -1 validated p.L375 1.000 200 0% 189 45.5% 10 30% - - - HMMPfam_5_nucleotid TAF5 6877 genome.wustl.edu 37 10 105138096 105138096 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006951.3 +1 reviewed p.R301Q 1.000 167 0% 209 42.6% 4 25% probably_damaging(0.999) deleterious(0.04) deleterious(0.839) HMMPfam_TFIID_90kDa SLK 9748 genome.wustl.edu 37 10 105727554 105727554 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014720.2 +1 provisional p.K17N 1.000 222 0% 265 48.3% 6 50% probably_damaging(1) deleterious(0) deleterious(0.945) NULL GSTO1 9446 genome.wustl.edu 37 10 106019360 106019360 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004832.1 +1 reviewed p.K57T 1.000 215 0% 260 42.7% 63 39.6% possibly_damaging(0.949) deleterious(0.01) deleterious(0.798) HMMPfam_GST_N,superfamily_Thiordxn-like_fd CCDC147 159686 genome.wustl.edu 37 10 106159145 106159145 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001008723.1 +1 validated p.A568T 1.000 174 0% 165 32.1% 0 - benign(0.126) tolerated(0.19) neutral(0.060) NULL XPNPEP1 7511 genome.wustl.edu 37 10 111643891 111643891 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020383.3 -1 reviewed p.R212Q 1.000 310 0% 377 43.2% 59 55.9% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ADD3 120 genome.wustl.edu 37 10 111881895 111881895 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016824.3 +1 reviewed p.V330I 0.982 268 0% 345 44.3% 22 36.3% benign(0.006) tolerated(0.35) neutral(0.021) superfamily_AraD-like aldolase/epimerase SMC3 9126 genome.wustl.edu 37 10 112337596 112337596 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005445.3 +1 reviewed p.D92N 1.000 256 0% 291 40.9% 5 20% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SMC_N,superfamily_P-loop containing nucleoside triphosphate hydrolases ADRA2A 150 genome.wustl.edu 37 10 112839029 112839029 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000681.3 +1 reviewed p.F425L 1.000 80 0% 133 46.6% 35 22.8% benign(0.38) tolerated(0.18) neutral(0.177) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like HABP2 3026 genome.wustl.edu 37 10 115338435 115338435 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004132.3 +1 reviewed p.M206I 1.000 177 0% 245 47.3% 0 - benign(0) deleterious(0.05) neutral(0.345) HMMPfam_Kringle,HMMSmart_SM00130,superfamily_Kringle-like NRAP 4892 genome.wustl.edu 37 10 115383396 115383396 + Splice_Site SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_198060.2 -1 validated e23-1 1.000 242 0% 295 44.1% 0 - - - - - NRAP 4892 genome.wustl.edu 37 10 115413821 115413821 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_198060.2 -1 validated p.E142K 0.992 230 0% 272 40.1% 0 - benign(0.011) tolerated(0.12) neutral(0.261) NULL C10orf81 79949 genome.wustl.edu 37 10 115540378 115540378 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000369312 +1 known p.I313 0.039 155 0% 201 44.8% 0 - - - - NULL DCLRE1A 9937 genome.wustl.edu 37 10 115609399 115609399 + Missense_Mutation SNP A A C rs184992773 by1000genomes TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014881.3 -1 provisional p.L489V 0.000 128 0% 182 48.9% 0 - benign(0.001) tolerated(0.09) neutral(0.296) NULL TDRD1 56165 genome.wustl.edu 37 10 115977311 115977311 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_198795.1 +1 reviewed p.K740N 0.000 133 0% 149 32.9% 0 - benign(0.082) tolerated(0.22) neutral(0.048) HMMPfam_TUDOR AFAP1L2 84632 genome.wustl.edu 37 10 116059089 116059089 + Silent SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001001936.1 -1 validated p.E681 0.996 441 0% 524 39.1% 14 0% - - - NULL FAM160B1 57700 genome.wustl.edu 37 10 116593028 116593028 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020940.3 +1 validated p.S54L 1.000 164 0% 189 44.4% 4 100% possibly_damaging(0.837) tolerated(0.65) neutral(0.323) NULL TRUB1 142940 genome.wustl.edu 37 10 116731929 116731929 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_139169.4 +1 validated p.S211L 1.000 223 0% 315 42.9% 3 33.3% probably_damaging(0.985) deleterious(0.01) deleterious(0.838) HMMPfam_TruB_N,superfamily_PsdUridine_synth_cat_dom ATRNL1 26033 genome.wustl.edu 37 10 117059710 117059710 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_207303.2 +1 validated p.N861T 1.000 125 0% 158 43% 9 33.3% benign(0.114) tolerated(0.45) neutral(0.021) HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like GFRA1 2674 genome.wustl.edu 37 10 117824052 117824052 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005264.4 -1 reviewed p.N419H 0.179 149 0% 209 31.6% 0 - benign(0.001) tolerated(0.2) neutral(0.049) NULL PNLIPRP3 119548 genome.wustl.edu 37 10 118215241 118215241 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001011709.2 +1 validated p.F155C 0.000 106 0% 104 40.4% 0 - probably_damaging(0.997) deleterious(0.02) deleterious(0.849) HMMPfam_Lipase,superfamily_alpha/beta-Hydrolases PNLIP 5406 genome.wustl.edu 37 10 118319998 118319998 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000936.2 +1 reviewed p.F377 0.988 218 0% 288 42.4% 0 - - - - HMMPfam_PLAT,HMMSmart_SM00308,superfamily_Lipase/lipooxygenase domain (PLAT/LH2 domain) KIAA1598 57698 genome.wustl.edu 37 10 118719730 118719730 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001127211.1 -1 validated p.V62I 1.000 137 0% 178 47.2% 5 60% probably_damaging(0.987) tolerated(0.1) deleterious(0.723) NULL EIF3A 8661 genome.wustl.edu 37 10 120795600 120795600 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003750.2 -1 validated p.R1367H 1.000 308 0% 385 43.9% 73 41% unknown(0) deleterious(0) - NULL EIF3A 8661 genome.wustl.edu 37 10 120801538 120801538 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003750.2 -1 validated p.R1165I 0.978 99 0% 129 45% 125 33.6% unknown(0) deleterious(0.02) - NULL EIF3A 8661 genome.wustl.edu 37 10 120802165 120802165 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003750.2 -1 validated p.R956Q 0.973 70 0% 84 44% 175 50.8% probably_damaging(0.997) tolerated(0.08) deleterious(0.766) NULL EIF3A 8661 genome.wustl.edu 37 10 120810137 120810137 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003750.2 -1 validated p.R790Q 1.000 687 0% 861 46.1% 62 45.1% unknown(0) deleterious(0.01) - NULL EIF3A 8661 genome.wustl.edu 37 10 120817760 120817760 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003750.2 -1 validated p.R562Q 0.988 155 0% 174 47.7% 27 33.3% unknown(0) tolerated(0.47) - NULL TIAL1 7073 genome.wustl.edu 37 10 121341434 121341434 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001033925.1 -1 reviewed p.S141L 1.000 174 0% 204 34.8% 9 55.5% benign(0.207) deleterious(0) neutral(0.465) HMMPfam_RRM_1,HMMSmart_RRM,superfamily_SSF54928 TIAL1 7073 genome.wustl.edu 37 10 121341987 121341987 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001033925.1 -1 reviewed p.R88I 1.000 203 0% 195 45.6% 29 27.5% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_RRM_1,HMMSmart_RRM,superfamily_SSF54928 BAG3 9531 genome.wustl.edu 37 10 121432041 121432041 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004281.3 +1 reviewed p.R261Q 0.002 22 0% 27 40.7% 41 53.6% benign(0.033) tolerated(0.38) neutral(0.019) NULL ATE1 11101 genome.wustl.edu 37 10 123600643 123600643 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001001976.1 -1 reviewed p.D371N 1.000 84 0% 136 52.9% 13 38.4% probably_damaging(0.958) deleterious(0.01) deleterious(0.807) HMMPfam_ATE_C BTBD16 118663 genome.wustl.edu 37 10 124094413 124094413 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_144587.2 +1 validated p.S394 0.000 238 0% 299 38.1% 0 - - - - NULL C10orf120 399814 genome.wustl.edu 37 10 124457713 124457713 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001010912.1 -1 predicted p.P182S 0.000 179 0% 252 11.9% 0 - benign(0) tolerated(0.78) neutral(0.001) NULL FAM24A 118670 genome.wustl.edu 37 10 124671219 124671219 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001029888.1 +1 inferred p.A23 0.000 326 0% 458 42.6% 0 - - - - NULL FAM175B 23172 genome.wustl.edu 37 10 126523262 126523262 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032182.3 +1 validated p.R324C 0.492 152 0% 246 49.6% 15 33.3% possibly_damaging(0.736) deleterious(0.03) deleterious(0.633) NULL C10orf137 26098 genome.wustl.edu 37 10 127417935 127417935 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015608.2 +1 validated p.K267N 1.000 265 0% 313 39.3% 2 100% benign(0.013) tolerated(0.22) neutral(0.043) NULL C10orf90 118611 genome.wustl.edu 37 10 128193111 128193111 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001004298.2 -1 validated p.R220C 0.000 125 0% 151 36.4% 0 - probably_damaging(0.997) deleterious(0.01) deleterious(0.872) NULL DOCK1 1793 genome.wustl.edu 37 10 128923772 128923772 + Silent SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000398025 +1 known p.D865 0.661 47 0% 76 32.9% 54 38.8% - - - NULL CLRN3 119467 genome.wustl.edu 37 10 129682097 129682097 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152311.3 -1 validated p.S91L 0.000 167 0% 200 37% 1 100% benign(0) tolerated(0.53) neutral(0.007) NULL PTPRE 5791 genome.wustl.edu 37 10 129866455 129866455 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006504.4 +1 reviewed p.F304 0.875 23 0% 42 45.2% 4 25% - - - HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II PTPRE 5791 genome.wustl.edu 37 10 129877870 129877870 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006504.4 +1 reviewed p.L647V 0.998 200 0% 281 43.8% 2 50% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II MKI67 4288 genome.wustl.edu 37 10 129899690 129899690 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002417.4 -1 reviewed p.A3179 0.000 274 0% 366 49.7% 32 43.7% - - - NULL MKI67 4288 genome.wustl.edu 37 10 129900918 129900918 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002417.4 -1 reviewed p.A3062 0.000 380 0% 498 12.4% 29 13.7% - - - NULL MKI67 4288 genome.wustl.edu 37 10 129901607 129901607 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002417.4 -1 reviewed p.D2833Y 0.000 454 0% 630 11.7% 43 11.6% probably_damaging(0.993) tolerated(0.07) deleterious(0.769) HMMPfam_K167R MKI67 4288 genome.wustl.edu 37 10 129902288 129902288 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002417.4 -1 reviewed p.T2606A 0.000 252 0% 280 41.1% 15 46.6% benign(0.235) tolerated(0.22) neutral(0.066) HMMPfam_K167R MKI67 4288 genome.wustl.edu 37 10 129902414 129902414 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002417.4 -1 reviewed p.E2564K 0.000 166 0% 181 40.3% 16 56.2% probably_damaging(0.999) tolerated(0.15) deleterious(0.732) HMMPfam_K167R MKI67 4288 genome.wustl.edu 37 10 129904559 129904559 + Missense_Mutation SNP T T G rs2782872 byCluster TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002417.4 -1 reviewed p.T1849P 0.001 661 0% 827 42.7% 3 33.3% probably_damaging(0.978) deleterious(0.04) deleterious(0.769) NULL MKI67 4288 genome.wustl.edu 37 10 129905201 129905201 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002417.4 -1 reviewed p.T1635A 0.024 451 0% 626 44.1% 10 50% possibly_damaging(0.631) tolerated(0.05) deleterious(0.566) HMMPfam_K167R MKI67 4288 genome.wustl.edu 37 10 129907281 129907281 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002417.4 -1 reviewed p.N941 0.001 243 0% 270 31.5% 2 50% - - - NULL MKI67 4288 genome.wustl.edu 37 10 129913277 129913277 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002417.4 -1 reviewed p.E465 0.003 117 0% 165 43.6% 2 50% - - - NULL GLRX3 10539 genome.wustl.edu 37 10 131977648 131977648 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006541.3 +1 provisional p.E334* 1.000 233 0% 258 43.8% 14 14.2% - - - superfamily_Thiordxn-like_fd PPP2R2D 55844 genome.wustl.edu 37 10 133748048 133748048 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000455566 +1 known p.R32C 1.000 308 0% 372 41.9% 3 0% possibly_damaging(0.855) deleterious(0) deleterious(0.774) superfamily_WD40 repeat-like LRRC27 80313 genome.wustl.edu 37 10 134166416 134166416 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001143758.1 +1 validated p.F368L 0.000 280 0% 380 41.1% 0 - unknown(0) - - NULL C10orf91 170393 genome.wustl.edu 37 10 134261360 134261360 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_173541.2 +1 validated p.A78V 0.000 73 0% 88 54.5% 0 - benign(0) - - NULL INPP5A 3632 genome.wustl.edu 37 10 134595573 134595573 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000445580 +1 known p.R92C 0.000 12 0% 37 40.5% 37 45.9% probably_damaging(0.966) deleterious(0) deleterious(0.853) NULL NKX6-2 84504 genome.wustl.edu 37 10 134598595 134598595 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_177400.2 -1 validated p.S220L 1.000 76 0% 92 52.2% 0 - possibly_damaging(0.616) tolerated(0.05) deleterious(0.560) NULL KNDC1 85442 genome.wustl.edu 37 10 134981792 134981792 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152643.6 +1 validated p.F112 0.987 84 0% 134 46.3% 4 25% - - - HMMSmart_SM00750 KNDC1 85442 genome.wustl.edu 37 10 134997383 134997383 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152643.6 +1 validated p.I172S 0.711 96 0% 107 45.8% 0 - benign(0.106) deleterious(0) neutral(0.453) HMMSmart_SM00750 FRG2B 441581 genome.wustl.edu 37 10 135438841 135438841 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001080998.1 -1 provisional p.S200Y 0.510 266 0% 327 24.5% 5 0% possibly_damaging(0.85) deleterious(0) deleterious(0.772) NULL FRG2B 441581 genome.wustl.edu 37 10 135438966 135438966 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001080998.1 -1 provisional p.R158 0.103 367 0% 529 30.4% 0 - - - - NULL ATHL1 80162 genome.wustl.edu 37 11 292569 292569 + Silent SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_025092.4 +1 validated p.S350 0.963 42 0% 44 11.4% 73 12.3% - - - HMMPfam_Glyco_hydro_65m,superfamily_Six-hairpin glycosidases LRRC56 115399 genome.wustl.edu 37 11 552187 552187 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_198075.3 +1 validated p.F379S 0.004 54 0% 66 42.4% 6 33.3% benign(0.001) tolerated(0.1) neutral(0.286) NULL PHRF1 57661 genome.wustl.edu 37 11 587453 587453 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020901.2 +1 validated p.E137K 1.000 160 0% 216 50% 25 32% benign(0.043) deleterious(0.01) neutral(0.408) HMMSmart_RING,HMMPfam_zf-C3HC4,superfamily_SSF57850 TSPAN4 7106 genome.wustl.edu 37 11 862605 862605 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001025234.1 +1 reviewed p.S40N 0.958 50 0% 67 43.3% 160 26.8% benign(0) tolerated(1) - HMMPfam_Tetraspannin AP2A2 161 genome.wustl.edu 37 11 1000445 1000445 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_012305.2 +1 validated p.P657L 1.000 20 0% 28 39.3% 49 40.8% probably_damaging(0.991) tolerated(0.05) deleterious(0.789) NULL MUC6 4588 genome.wustl.edu 37 11 1027415 1027415 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005961.2 -1 validated p.A695V 0.001 33 0% 58 41.4% 25 24% unknown(0) tolerated(0.56) - superfamily_Serine proterase inhibitors MUC2 4583 genome.wustl.edu 37 11 1083157 1083157 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002457.2 +1 reviewed p.S686I 0.010 16 0% 41 46.3% 0 - benign(0.043) - - superfamily_Serine proterase inhibitors MUC2 4583 genome.wustl.edu 37 11 1093934 1093934 + Splice_Site SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002457.2 +1 reviewed e31+1 0.016 103 0% 155 41.9% 0 - - - - - MUC2 4583 genome.wustl.edu 37 11 1094844 1094844 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002457.2 +1 reviewed p.D1974N 0.703 154 0% 217 44.7% 1 100% possibly_damaging(0.658) tolerated(0.25) neutral(0.270) NULL MUC2 4583 genome.wustl.edu 37 11 1096350 1096350 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002457.2 +1 reviewed p.P2121 0.035 25 4% 19 57.9% 2 50% - - - HMMPfam_VWD,HMMSmart_SM00216 MUC5B 727897 genome.wustl.edu 37 11 1253681 1253681 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002458.1 +1 validated p.E618D 0.974 35 0% 53 58.5% 13 7.6% possibly_damaging(0.858) - - HMMPfam_C8 MUC5B 727897 genome.wustl.edu 37 11 1263858 1263858 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002458.1 +1 validated p.T1919 0.001 221 0% 323 46.1% 37 24.3% - - - NULL MUC5B 727897 genome.wustl.edu 37 11 1265550 1265550 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002458.1 +1 validated p.S2483 0.000 246 0% 310 20.3% 85 18.8% - - - NULL MUC5B 727897 genome.wustl.edu 37 11 1272387 1272387 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002458.1 +1 validated p.W4762* 0.000 410 0% 594 16.5% 159 6.9% - - - NULL MUC5B 727897 genome.wustl.edu 37 11 1272615 1272615 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002458.1 +1 validated p.T4838 0.063 226 0% 253 38.7% 76 76.3% - - - NULL ENSG00000250644 0 genome.wustl.edu 37 11 1768918 1768918 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000427721 -1 known p.S372L 0.983 62 0% 122 15.6% 35 2.8% - - - HMMPfam_CD225 TNNT3 7140 genome.wustl.edu 37 11 1953741 1953741 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006757.3 +1 reviewed p.F56 0.999 148 0% 181 45.3% 0 - - - - NULL TNNT3 7140 genome.wustl.edu 37 11 1955163 1955163 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006757.3 +1 reviewed p.E97D 1.000 37 0% 44 18.2% 0 - probably_damaging(0.993) deleterious(0) deleterious(0.895) HMMPfam_Troponin TSPAN32 10077 genome.wustl.edu 37 11 2334911 2334911 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_139022.2 +1 reviewed p.D128N 0.994 30 0% 46 45.7% 2 50% possibly_damaging(0.638) tolerated(0.34) neutral(0.246) superfamily_Tetraspanin,HMMPfam_Tetraspannin TRPM5 29850 genome.wustl.edu 37 11 2439536 2439536 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014555.3 -1 validated p.S256L 0.995 19 0% 22 45.5% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL SLC22A18 5002 genome.wustl.edu 37 11 2940622 2940622 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000441077 +1 known p.S119L 0.994 70 0% 98 21.4% 37 16.2% - - - NULL NAP1L4 4676 genome.wustl.edu 37 11 2997297 2997297 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005969.3 -1 reviewed p.R44* 0.996 183 0% 206 38.3% 26 19.2% - - - NULL OSBPL5 114879 genome.wustl.edu 37 11 3111902 3111902 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020896.3 -1 reviewed p.R762C 0.996 15 0% 25 72% 19 31.5% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL OSBPL5 114879 genome.wustl.edu 37 11 3115515 3115515 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020896.3 -1 reviewed p.I557 0.001 101 0% 120 30.8% 31 22.5% - - - HMMPfam_Oxysterol_BP OSBPL5 114879 genome.wustl.edu 37 11 3128622 3128622 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020896.3 -1 reviewed p.E310D 0.190 186 0% 208 47.6% 15 26.6% benign(0.019) tolerated(0.16) neutral(0.060) NULL ZNF195 7748 genome.wustl.edu 37 11 3380429 3380429 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001130520.1 -1 validated p.E603D 1.000 144 0% 201 44.3% 5 20% benign(0.362) deleterious(0.01) deleterious(0.521) superfamily_C2H2 and C2HC zinc fingers NUP98 4928 genome.wustl.edu 37 11 3707392 3707392 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016320.4 -1 reviewed p.R1496Q 1.000 102 0% 148 42.6% 31 54.8% benign(0.04) tolerated(0.6) neutral(0.007) NULL NUP98 4928 genome.wustl.edu 37 11 3723763 3723763 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016320.4 -1 reviewed p.E1148* 0.669 125 0% 173 39.9% 8 12.5% - - - NULL PGAP2 27315 genome.wustl.edu 37 11 3819156 3819156 + Missense_Mutation SNP C C G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001145438.1 +1 validated p.P28R 0.000 56 0% 99 42.4% 8 25% probably_damaging(0.997) - - NULL TRIM21 6737 genome.wustl.edu 37 11 4406945 4406945 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003141.3 -1 reviewed p.G333D 1.000 163 0% 191 52.4% 4 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_PRY TRIM21 6737 genome.wustl.edu 37 11 4409565 4409565 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003141.3 -1 reviewed p.R234* 0.008 107 0% 173 46.8% 4 0% - - - NULL OR52K2 119774 genome.wustl.edu 37 11 4471175 4471175 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001005172.2 +1 validated p.I202 0.991 482 0% 628 44.9% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR52I2 143502 genome.wustl.edu 37 11 4608370 4608370 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001005170.2 +1 validated p.K110E 1.000 270 0% 396 33.1% 0 - possibly_damaging(0.775) deleterious(0) deleterious(0.733) HMMPfam_7tm_1,superfamily_SSF81321 OR51S1 119692 genome.wustl.edu 37 11 4870306 4870306 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001004758.1 -1 provisional p.L45I 0.001 75 0% 106 46.2% 0 - possibly_damaging(0.608) tolerated(0.74) neutral(0.212) superfamily_Family A G protein-coupled receptor-like OR52A1 23538 genome.wustl.edu 37 11 5173354 5173354 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_012375.2 -1 validated p.K82N 0.812 106 0.9% 144 50% 0 - possibly_damaging(0.933) tolerated(0.11) deleterious(0.651) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like HBG2 3048 genome.wustl.edu 37 11 5275931 5275931 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000184.2 -1 reviewed p.A10T 0.305 555 0% 659 21.7% 0 - benign(0.002) tolerated(0.12) neutral(0.261) HMMPfam_Globin,superfamily_Globin-like OR51B4 79339 genome.wustl.edu 37 11 5322273 5322273 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_033179.2 -1 validated p.R302S 0.000 85 0% 114 41.2% 0 - possibly_damaging(0.657) tolerated(0.21) neutral(0.276) superfamily_Family A G protein-coupled receptor-like OR51B6 390058 genome.wustl.edu 37 11 5373269 5373269 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001004750.1 +1 provisional p.L178I 0.567 235 0% 386 44% 0 - probably_damaging(0.975) deleterious(0.01) deleterious(0.823) HMMPfam_7tm_1,superfamily_SSF81321 UBQLN3 50613 genome.wustl.edu 37 11 5530614 5530614 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017481.2 -1 reviewed p.D59N 1.000 179 0% 199 45.7% 0 - benign(0.001) tolerated(0.07) neutral(0.319) HMMPfam_ubiquitin,HMMSmart_UBQ,superfamily_SSF54236 OR52B6 340980 genome.wustl.edu 37 11 5603006 5603006 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001005162.2 +1 validated p.Y300 1.000 483 0% 647 42.2% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 TRIM22 10346 genome.wustl.edu 37 11 5730316 5730316 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006074.3 +1 reviewed p.S312L 0.050 198 0% 229 46.3% 17 47% benign(0.002) tolerated(0.26) neutral(0.034) NULL OR56B1 387748 genome.wustl.edu 37 11 5758671 5758671 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001005180.1 +1 provisional p.A309T 0.000 118 0% 145 48.3% 0 - benign(0) tolerated(0.14) neutral(0.249) superfamily_SSF81321 OR56A5 390084 genome.wustl.edu 37 11 5989263 5989263 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_002343047.1 -1 model p.R154S 0.000 94 2.1% 133 27.8% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR52L1 338751 genome.wustl.edu 37 11 6008070 6008070 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001005173.2 -1 validated p.L31I 0.992 53 0% 99 49.5% 0 - benign(0.001) tolerated(1) - superfamily_Family A G protein-coupled receptor-like OR56B4 196335 genome.wustl.edu 37 11 6129776 6129776 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001005181.1 +1 provisional p.F256 1.000 139 0% 217 16.6% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 APBB1 322 genome.wustl.edu 37 11 6424729 6424729 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001164.2 -1 reviewed p.E315* 1.000 230 0% 280 46.4% 0 - - - - NULL DNHD1 144132 genome.wustl.edu 37 11 6530236 6530236 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_173589.3 +1 validated p.H349 1.000 151 0% 176 42.6% 1 0% - - - NULL DCHS1 8642 genome.wustl.edu 37 11 6651110 6651110 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003737.2 -1 reviewed p.E1610K 1.000 4 0.000 12 0.333 23 4.3% probably_damaging(0.999) tolerated(0.1) deleterious(0.777) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin DCHS1 8642 genome.wustl.edu 37 11 6654705 6654705 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003737.2 -1 reviewed p.S798Y 1.000 90 0% 87 13.8% 5 0% possibly_damaging(0.885) tolerated(1) neutral(0.346) HMMPfam_Cadherin,superfamily_Cadherin DCHS1 8642 genome.wustl.edu 37 11 6661983 6661983 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003737.2 -1 reviewed p.G288R 1.000 42 0% 68 52.9% 10 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin OR10A5 144124 genome.wustl.edu 37 11 6867103 6867103 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_178168.1 +1 provisional p.L64I 0.998 331 0% 465 35.5% 0 - probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_7tm_1,superfamily_SSF81321 ZNF215 7762 genome.wustl.edu 37 11 6964838 6964838 + Nonstop_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000414517 +1 known p.*182S 0.937 345 0% 362 37.8% 0 - - - - NULL ZNF215 7762 genome.wustl.edu 37 11 6964867 6964867 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_013250.2 +1 validated p.I236T 0.059 283 0% 303 30% 0 - benign(0) tolerated(0.62) neutral(0.004) NULL PPFIBP2 8495 genome.wustl.edu 37 11 7663534 7663534 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003621.2 +1 validated p.R508Q 1.000 41 0% 67 34.3% 5 40% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL OR5P3 120066 genome.wustl.edu 37 11 7846761 7846761 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_153445.1 -1 provisional p.G253 0.718 209 0% 298 39.9% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 NLRP10 338322 genome.wustl.edu 37 11 7981377 7981377 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_176821.3 -1 reviewed p.K594N 0.001 234 0% 284 36.3% 0 - probably_damaging(0.999) deleterious(0.04) deleterious(0.839) NULL TRIM66 9866 genome.wustl.edu 37 11 8640311 8640311 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014818.1 -1 validated p.R1193W 1.000 37 0% 63 50.8% 2 100% probably_damaging(1) deleterious(0) deleterious(0.945) NULL TRIM66 9866 genome.wustl.edu 37 11 8642732 8642732 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014818.1 -1 validated p.R955Q 0.101 55 0% 97 14.4% 6 0% probably_damaging(0.989) deleterious(0.02) deleterious(0.823) NULL SNORA45 677826 genome.wustl.edu 37 11 8707041 8707041 + RNA SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NR_002977.1 +1 provisional NULL 1.000 19 0% 18 50% 4 25% - - - - RPL27A 6157 genome.wustl.edu 37 11 8707323 8707323 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000990.4 +1 reviewed p.S139R 0.998 236 0% 296 44.6% 1313 42% benign(0.006) tolerated(0.07) neutral(0.319) HMMPfam_L15,PatternScan_RIBOSOMAL_L15,superfamily_Ribosomal proteins L15p and L18e C11orf16 56673 genome.wustl.edu 37 11 8948520 8948520 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020643.2 -1 validated p.L176I 0.287 125 0% 142 43% 0 - possibly_damaging(0.48) tolerated(0.24) neutral(0.197) NULL ZNF143 7702 genome.wustl.edu 37 11 9516259 9516259 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003442.5 +1 validated p.R238* 1.000 251 0% 304 42.8% 8 0% - - - HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers SBF2 81846 genome.wustl.edu 37 11 9838397 9838397 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_030962.3 -1 reviewed p.S1323L 1.000 123 0% 182 39.6% 5 40% probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_(Phosphotyrosine protein) phosphatases II SBF2 81846 genome.wustl.edu 37 11 9875182 9875182 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_030962.3 -1 reviewed p.S814Y 1.000 224 0% 257 44.4% 11 45.4% possibly_damaging(0.476) tolerated(0.18) neutral(0.213) NULL AMPD3 272 genome.wustl.edu 37 11 10483284 10483284 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000480.2 +1 reviewed p.K82T 1.000 95 0% 98 37.8% 1 0% benign(0.086) deleterious(0.01) neutral(0.412) NULL AMPD3 272 genome.wustl.edu 37 11 10524349 10524349 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000480.2 +1 reviewed p.E651K 1.000 314 0% 444 43.5% 2 0% possibly_damaging(0.638) tolerated(0.28) neutral(0.255) HMMPfam_A_deaminase,superfamily_SSF51556 CTR9 9646 genome.wustl.edu 37 11 10774236 10774236 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014633.3 +1 provisional p.F21 1.000 345 0% 442 45.7% 6 33.3% - - - NULL EIF4G2 1982 genome.wustl.edu 37 11 10819386 10819386 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000429377 -1 known p.E974* 1.000 524 0% 588 43% 248 31.4% - - - HMMPfam_W2 USP47 55031 genome.wustl.edu 37 11 11926958 11926958 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017944.3 +1 validated p.N210H 1.000 132 0% 188 42% 60 50% possibly_damaging(0.714) deleterious(0.01) deleterious(0.663) HMMPfam_UCH,superfamily_Cysteine proteinases PARVA 55742 genome.wustl.edu 37 11 12495459 12495459 + Splice_Site SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018222.3 +1 provisional e3-1 1.000 139 0% 152 21.7% 0 - - - - - ARNTL 406 genome.wustl.edu 37 11 13378564 13378564 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000403482 +1 known p.E46* 0.000 400 0.3% 470 40% 0 - - - - NULL FAR1 84188 genome.wustl.edu 37 11 13734630 13734630 + Silent SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000355107 +1 known p.P335 0.013 211 0% 312 46.8% 0 - - - - NULL SPON1 10418 genome.wustl.edu 37 11 14276272 14276272 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006108.2 +1 validated p.M363T 0.999 94 0% 101 36.6% 441 60.7% unknown(0) - - NULL COPB1 1315 genome.wustl.edu 37 11 14504625 14504625 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001144061.1 -1 reviewed p.R304C 1.000 217 0% 273 38.1% 22 40.9% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Adaptin_N,superfamily_ARM-type_fold PSMA1 5682 genome.wustl.edu 37 11 14540584 14540584 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_148976.2 -1 reviewed p.R9* 1.000 104 0% 88 45.5% 41 34.1% - - - NULL CYP2R1 120227 genome.wustl.edu 37 11 14907448 14907448 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024514.4 -1 reviewed p.L81I 1.000 210 0% 255 45.9% 4 0% probably_damaging(0.965) tolerated(0.05) deleterious(0.752) HMMPfam_p450,superfamily_Cytochrome_P450 PIK3C2A 5286 genome.wustl.edu 37 11 17115877 17115877 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002645.2 -1 validated p.R1461Q 1.000 193 0% 242 42.6% 7 57.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PX,HMMSmart_SM00312,superfamily_PX domain PIK3C2A 5286 genome.wustl.edu 37 11 17141345 17141345 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002645.2 -1 validated p.L945R 1.000 240 0% 320 41.6% 5 40% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_PI3Ka,HMMSmart_SM00145,superfamily_ARM repeat ABCC8 6833 genome.wustl.edu 37 11 17419336 17419336 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000352.3 -1 reviewed p.I1254 0.348 36 0% 53 47.2% 0 - unknown(0) - - HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain USH1C 10083 genome.wustl.edu 37 11 17530966 17530966 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_153676.3 -1 reviewed p.K650N 0.999 51 0% 70 47.1% 0 - benign(0) tolerated(0.83) neutral(0.001) NULL MYOD1 4654 genome.wustl.edu 37 11 17741458 17741458 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002478.4 +1 reviewed p.F43 1.000 28 0% 36 47.2% 0 - - - - HMMPfam_Basic,HMMSmart_BASIC KCNC1 3746 genome.wustl.edu 37 11 17793587 17793587 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001112741.1 +1 reviewed p.V316M 1.000 30 0% 45 33.3% 0 - possibly_damaging(0.819) deleterious(0) deleterious(0.754) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels KCNC1 3746 genome.wustl.edu 37 11 17794062 17794062 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001112741.1 +1 reviewed p.S474Y 1.000 42 0% 48 41.7% 0 - possibly_damaging(0.768) deleterious(0.01) deleterious(0.691) NULL GTF2H1 2965 genome.wustl.edu 37 11 18382231 18382231 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001142307.1 +1 validated p.R513W 1.000 253 0% 248 35.5% 12 50% probably_damaging(0.997) deleterious(0.05) deleterious(0.811) NULL LDHA 3939 genome.wustl.edu 37 11 18427054 18427054 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005566.3 +1 reviewed p.A257T 1.000 317 0% 334 37.7% 236 42.7% benign(0.016) tolerated(0.25) neutral(0.037) HMMPfam_Ldh_1_C,superfamily_LDH C-terminal domain-like LDHC 3948 genome.wustl.edu 37 11 18460131 18460131 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002301.4 +1 reviewed p.K217E 0.000 465 0% 604 48.5% 0 - benign(0) tolerated(1) - HMMPfam_Ldh_1_C,superfamily_Lactate_DH/Glyco_hydro_4_C LDHAL6A 160287 genome.wustl.edu 37 11 18497100 18497100 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001144071.1 +1 validated p.R169H 0.994 394 0% 363 40.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ldh_1_C,superfamily_Lactate_DH/Glyco_hydro_4_C ENSG00000247595 0 genome.wustl.edu 37 11 18631717 18631717 + RNA SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000501599 +1 known NULL 0.004 9 0.000 12 0.583 0 - - - - - PTPN5 84867 genome.wustl.edu 37 11 18754806 18754806 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006906.1 -1 validated p.I398 1.000 63 0% 88 37.5% 0 - - - - HMMPfam_Y_phosphatase,HMMSmart_SM00194,superfamily_(Phosphotyrosine protein) phosphatases II MRGPRX1 259249 genome.wustl.edu 37 11 18955395 18955395 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_147199.3 -1 provisional p.L313M 0.653 188 0% 294 18.4% 0 - possibly_damaging(0.78) tolerated(0.08) deleterious(0.591) NULL HTATIP2 10553 genome.wustl.edu 37 11 20398241 20398241 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001098520.1 +1 validated p.N174T 0.807 406 0% 420 42.1% 2 100% benign(0) tolerated(0.44) neutral(0.013) superfamily_NAD(P)-binding Rossmann-fold domains NELL1 4745 genome.wustl.edu 37 11 20869169 20869169 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006157.3 +1 reviewed p.R126W 1.000 196 0% 282 41.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00282,HMMSmart_SM00210,superfamily_Concanavalin A-like lectins/glucanases ANO5 203859 genome.wustl.edu 37 11 22271810 22271810 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_213599.2 +1 reviewed p.I302 0.996 471 0.2% 551 43.9% 0 - - - - NULL SLC17A6 57084 genome.wustl.edu 37 11 22396310 22396310 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020346.2 +1 validated p.L351 1.000 297 0% 500 42.8% 0 - - - - HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter ANO3 63982 genome.wustl.edu 37 11 26656602 26656602 + Silent SNP G G C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_031418.2 +1 validated p.R676 0.937 421 0% 561 43.3% 0 - - - - NULL ANO3 63982 genome.wustl.edu 37 11 26669282 26669282 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_031418.2 +1 validated p.I819L 1.000 308 0% 452 25% 0 - probably_damaging(0.975) tolerated(0.11) deleterious(0.689) HMMPfam_DUF590 ANO3 63982 genome.wustl.edu 37 11 26681839 26681839 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_031418.2 +1 validated p.A932T 1.000 128 0% 136 35.3% 0 - possibly_damaging(0.848) tolerated(0.21) neutral(0.369) HMMPfam_DUF590 LIN7C 55327 genome.wustl.edu 37 11 27520993 27520993 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018362.3 -1 validated p.I117 0.971 399 0% 483 38.9% 4 0% - - - HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like BDNF 627 genome.wustl.edu 37 11 27679633 27679633 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001143810.1 -1 reviewed p.S242L 1.000 126 0% 185 43.8% 0 - benign(0.016) deleterious(0) neutral(0.445) HMMPfam_NGF,HMMSmart_NGF,superfamily_SSF57501 DCDC5 100506627 genome.wustl.edu 37 11 30944175 30944175 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_002343054.1 -1 model p.S154* 0.999 280 0% 338 47.9% 0 - - - - superfamily_Doublecortin (DC) DCDC5 100506627 genome.wustl.edu 37 11 30953335 30953335 + Silent SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_002343054.1 -1 model p.S39 0.999 107 0% 137 40.1% 0 - - - - NULL DCDC1 341019 genome.wustl.edu 37 11 31349787 31349787 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_181807.2 -1 validated p.S14Y 0.000 265 0% 287 42.5% 0 - benign(0.042) tolerated(0.08) neutral(0.302) NULL EIF3M 10480 genome.wustl.edu 37 11 32622308 32622308 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006360.3 +1 provisional p.E291D 1.000 312 0% 346 43.1% 115 46.9% probably_damaging(0.999) deleterious(0.03) deleterious(0.855) HMMPfam_PCI,HMMSmart_SM00088 PRRG4 79056 genome.wustl.edu 37 11 32858269 32858269 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024081.4 +1 provisional p.L57M 1.000 212 0% 258 41.9% 0 - probably_damaging(0.977) deleterious(0.03) deleterious(0.783) HMMPfam_Gla,HMMSmart_GLA,superfamily_VitK_dep_GLA QSER1 79832 genome.wustl.edu 37 11 32976923 32976923 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001076786.1 +1 provisional p.R1399* 1.000 177 0% 180 43.9% 1 0% - - - NULL DEPDC7 91614 genome.wustl.edu 37 11 33037519 33037519 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001077242.1 +1 validated p.E6D 1.000 28 0% 48 50% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL HIPK3 10114 genome.wustl.edu 37 11 33360929 33360929 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005734.3 +1 validated p.L488I 1.000 490 0% 659 27% 5 20% possibly_damaging(0.886) tolerated(0.12) deleterious(0.607) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase NAT10 55226 genome.wustl.edu 37 11 34144047 34144047 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024662.2 +1 validated p.K274N 1.000 181 0% 225 44.9% 6 50% benign(0.362) deleterious(0) deleterious(0.559) NULL ABTB2 25841 genome.wustl.edu 37 11 34180875 34180875 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_145804.1 -1 provisional p.E703K 1.000 276 0% 396 43.2% 16 68.7% possibly_damaging(0.858) deleterious(0.03) deleterious(0.696) HMMSmart_BTB,superfamily_BTB/POZ_fold,HMMPfam_BTB CD44 960 genome.wustl.edu 37 11 35226084 35226084 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000428726 +1 known p.R371Q 0.001 198 0% 230 43% 33 75.7% - - - NULL CD44 960 genome.wustl.edu 37 11 35243211 35243211 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000428726 +1 known p.S630L 1.000 267 0% 337 43% 175 36% - - - NULL PRR5L 79899 genome.wustl.edu 37 11 36467951 36467951 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024841.4 +1 validated p.K182 0.990 63 0% 102 47.1% 36 41.6% - - - NULL LRRC4C 57689 genome.wustl.edu 37 11 40136975 40136975 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020929.1 -1 validated p.L290V 1.000 110 0% 129 35.7% 2 0% probably_damaging(0.997) deleterious(0.03) deleterious(0.831) HMMPfam_LRR_1,superfamily_L domain-like LOC399881 399881 genome.wustl.edu 37 11 43284693 43284693 + RNA SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XR_040375.2 -1 model NULL 0.974 32 0% 56 17.9% 0 - - - - - API5 8539 genome.wustl.edu 37 11 43343648 43343648 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001142930.1 +1 validated p.K169E 1.000 183 0% 261 40.2% 4 0% probably_damaging(0.955) tolerated(0.45) neutral(0.411) HMMPfam_API5,superfamily_ARM-type_fold API5 8539 genome.wustl.edu 37 11 43345004 43345004 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001142930.1 +1 validated p.E190* 1.000 159 0% 212 48.6% 8 0% - - - HMMPfam_API5,superfamily_ARM-type_fold API5 8539 genome.wustl.edu 37 11 43350380 43350380 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001142930.1 +1 validated p.R355Q 1.000 157 0% 265 42.3% 6 0% possibly_damaging(0.923) deleterious(0.04) deleterious(0.722) HMMPfam_API5,superfamily_ARM-type_fold ALKBH3 221120 genome.wustl.edu 37 11 43940668 43940668 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_139178.3 +1 validated p.A250 0.049 169 0% 198 14.6% 21 0% - - - NULL ALX4 60529 genome.wustl.edu 37 11 44289063 44289063 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_021926.3 -1 reviewed p.R296Q 1.000 228 0% 232 45.7% 0 - probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL PRDM11 56981 genome.wustl.edu 37 11 45203866 45203866 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020229.2 +1 validated p.I97 0.999 62 0% 107 28% 6 50% - - - NULL MAPK8IP1 9479 genome.wustl.edu 37 11 45926566 45926566 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005456.2 +1 reviewed p.F646L 1.000 100 0% 133 21.8% 40 27.5% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_PID,HMMSmart_PTB,superfamily_SSF50729 CREB3L1 90993 genome.wustl.edu 37 11 46338971 46338971 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_052854.2 +1 validated p.F397L 1.000 45 0% 62 45.2% 108 46.2% benign(0.002) tolerated(0.28) neutral(0.032) NULL AMBRA1 55626 genome.wustl.edu 37 11 46564917 46564917 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017749.2 -1 validated p.G217V 1.000 53 0% 113 30.1% 34 32.3% possibly_damaging(0.703) tolerated(0.1) deleterious(0.539) NULL ZNF408 79797 genome.wustl.edu 37 11 46726394 46726394 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024741.2 +1 validated p.L382I 1.000 20 0% 24 45.8% 11 45.4% probably_damaging(0.99) tolerated(0.1) deleterious(0.728) HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,superfamily_SSF57667 F2 2147 genome.wustl.edu 37 11 46742081 46742081 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000506.3 +1 reviewed p.F83L 1.000 159 0% 162 45.7% 0 - probably_damaging(1) tolerated(0.07) deleterious(0.819) HMMPfam_Gla,HMMSmart_GLA,PatternScan_GLA_1,superfamily_VitK_dep_GLA CKAP5 9793 genome.wustl.edu 37 11 46784276 46784276 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001008938.1 -1 validated p.R1310C 1.000 233 1.3% 279 39.4% 76 38.1% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ARM repeat CKAP5 9793 genome.wustl.edu 37 11 46802011 46802011 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001008938.1 -1 validated p.S758 1.000 273 0% 327 10.4% 19 10.5% - - - superfamily_ARM repeat LRP4 4038 genome.wustl.edu 37 11 46889575 46889575 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002334.3 -1 reviewed p.S1681Y 0.030 294 0% 354 35.6% 1 0% benign(0.008) deleterious(0.01) neutral(0.406) NULL MADD 8567 genome.wustl.edu 37 11 47297598 47297598 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003682.3 +1 reviewed p.E270K 1.000 134 0% 205 46.3% 20 75% probably_damaging(0.99) deleterious(0.01) deleterious(0.847) HMMPfam_DENN,HMMSmart_SM00799 MADD 8567 genome.wustl.edu 37 11 47330948 47330948 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003682.3 +1 reviewed p.D1350N 1.000 239 0.4% 344 17.4% 24 4.1% possibly_damaging(0.892) deleterious(0.01) deleterious(0.757) NULL MYBPC3 4607 genome.wustl.edu 37 11 47354754 47354754 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000256.3 -1 reviewed p.K1107N 1.000 72 0% 79 54.4% 0 - benign(0.15) deleterious(0) neutral(0.458) HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like MYBPC3 4607 genome.wustl.edu 37 11 47368181 47368181 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000256.3 -1 reviewed p.P308L 0.194 184 0.5% 230 14.3% 0 - benign(0.071) deleterious(0.02) neutral(0.388) NULL CELF1 10658 genome.wustl.edu 37 11 47493807 47493807 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001025596.2 -1 reviewed p.S479L 1.000 92 0% 164 43.9% 75 38.6% unknown(0) deleterious(0) - superfamily_RNA-binding domain RBD KBTBD4 55709 genome.wustl.edu 37 11 47600558 47600558 + RNA SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NR_024222.1 -1 validated NULL 0.000 108 0% 144 39.6% 0 - - - - - MTCH2 23788 genome.wustl.edu 37 11 47660337 47660337 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014342.3 -1 validated p.D65N 1.000 132 0.8% 150 38% 108 35.1% benign(0.123) tolerated(0.06) neutral(0.333) superfamily_Mitochondrial carrier PTPRJ 5795 genome.wustl.edu 37 11 48161157 48161157 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002843.3 +1 reviewed p.A758T 0.000 109 0% 130 46.2% 15 60% benign(0.027) tolerated(0.64) neutral(0.005) HMMSmart_FN3,superfamily_FN_III-like OR4X2 119764 genome.wustl.edu 37 11 48266964 48266964 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001004727.1 +1 provisional p.E103D 0.278 136 0% 151 41.7% 0 - probably_damaging(0.995) tolerated(0.09) deleterious(0.754) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR4X1 390113 genome.wustl.edu 37 11 48286210 48286210 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001004726.1 +1 provisional p.D266 0.161 124 0% 177 47.5% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 LOC646754 646754 genome.wustl.edu 37 11 49080491 49080491 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_929704.3 -1 model p.I58 0.007 156 0% 198 41.4% 0 - - - - superfamily_RING/U-box FOLH1 2346 genome.wustl.edu 37 11 49168372 49168372 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004476.1 -1 reviewed p.R730K 1.000 350 0% 388 44.8% 50 40% benign(0.001) tolerated(1) - HMMPfam_TFR_dimer,superfamily_Transferrin receptor ectodomain C-terminal domain OR4C13 283092 genome.wustl.edu 37 11 49974774 49974774 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001001955.2 +1 validated p.K267T 0.001 292 0% 323 39.6% 0 - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_7tm_1,superfamily_SSF81321 OR4C12 283093 genome.wustl.edu 37 11 50003584 50003584 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001005270.2 -1 validated p.L152F 0.929 80 0% 74 39.2% 0 - probably_damaging(0.974) deleterious(0.04) deleterious(0.765) HMMPfam_7tm_1,superfamily_SSF81321 OR4A5 81318 genome.wustl.edu 37 11 51411521 51411521 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001005272.3 -1 validated p.R292I 0.174 115 0% 137 39.4% 0 - possibly_damaging(0.786) tolerated(0.07) deleterious(0.613) superfamily_Family A G protein-coupled receptor-like LOC440041 440041 genome.wustl.edu 37 11 55064999 55064999 + RNA SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XR_016142.3 -1 model NULL 0.001 200 0% 191 42.9% 0 - - - - - OR4C15 81309 genome.wustl.edu 37 11 55321847 55321847 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001001920.1 +1 provisional p.T22N 0.000 265 0% 309 39.2% 0 - possibly_damaging(0.45) - - NULL OR4P4 81300 genome.wustl.edu 37 11 55405949 55405949 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001004124.1 +1 provisional p.G39E 1.000 316 0% 388 40.7% 0 - benign(0.146) deleterious(0) neutral(0.457) HMMPfam_7tm_1,superfamily_SSF81321 OR4S2 219431 genome.wustl.edu 37 11 55418445 55418445 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001004059.2 +1 validated p.E22 0.002 247 0% 260 39.6% 0 - - - - superfamily_Family A G protein-coupled receptor-like OR5L1 219437 genome.wustl.edu 37 11 55579606 55579606 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001004738.1 +1 provisional p.L222I 0.000 231 0% 306 45.1% 0 - possibly_damaging(0.877) tolerated(0.78) neutral(0.343) HMMPfam_7tm_1,superfamily_SSF81321 OR5AS1 219447 genome.wustl.edu 37 11 55798772 55798772 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001001921.1 +1 provisional p.R293K 0.995 132 0% 142 40.8% 0 - possibly_damaging(0.946) deleterious(0.02) deleterious(0.773) superfamily_SSF81321 OR8I2 120586 genome.wustl.edu 37 11 55861619 55861619 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001003750.1 +1 provisional p.I279S 0.868 80 0% 133 54.1% 0 - benign(0.02) deleterious(0.02) neutral(0.384) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR8J3 81168 genome.wustl.edu 37 11 55904701 55904701 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001004064.1 -1 provisional p.S165Y 0.000 232 0% 300 46.3% 0 - probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_7tm_1,superfamily_SSF81321 OR5T3 390154 genome.wustl.edu 37 11 56019848 56019848 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001004747.1 +1 provisional p.F58S 0.620 328 0% 388 45.4% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_SSF81321 OR5T3 390154 genome.wustl.edu 37 11 56020206 56020206 + Silent SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001004747.1 +1 provisional p.A177 0.000 362 0% 430 37% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR5T1 390155 genome.wustl.edu 37 11 56043814 56043814 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001004745.1 +1 provisional p.L234 0.000 272 0% 400 50% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR8H1 219469 genome.wustl.edu 37 11 56058330 56058330 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001005199.1 -1 provisional p.D70G 0.986 462 0% 620 25.2% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR8K1 390157 genome.wustl.edu 37 11 56114392 56114392 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001002907.1 +1 provisional p.P293L 1.000 91 0% 96 45.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_SSF81321 OR5M8 219484 genome.wustl.edu 37 11 56258437 56258437 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001005282.1 -1 provisional p.K137R 0.000 59 0% 81 39.5% 0 - benign(0) tolerated(1) - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR5M10 390167 genome.wustl.edu 37 11 56344689 56344689 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001004741.1 -1 provisional p.G170V 0.098 189 0.5% 266 46.2% 0 - possibly_damaging(0.88) deleterious(0) deleterious(0.788) HMMPfam_7tm_1,superfamily_SSF81321 OR5M1 390168 genome.wustl.edu 37 11 56380043 56380043 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001004740.1 -1 provisional p.K312N 0.059 174 0% 200 44% 0 - possibly_damaging(0.487) tolerated(0.24) neutral(0.200) NULL OR5AP2 338675 genome.wustl.edu 37 11 56408989 56408989 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001002925.1 -1 provisional p.K309N 0.038 179 0% 168 43.5% 0 - possibly_damaging(0.931) tolerated(0.05) deleterious(0.723) superfamily_Family A G protein-coupled receptor-like OR5AP2 338675 genome.wustl.edu 37 11 56409026 56409026 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001002925.1 -1 provisional p.S297I 1.000 133 0% 133 39.1% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_Family A G protein-coupled receptor-like OR5AP2 338675 genome.wustl.edu 37 11 56409117 56409117 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001002925.1 -1 provisional p.R267C 0.005 88 0% 107 44.9% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR5AR1 219493 genome.wustl.edu 37 11 56431809 56431809 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001004730.1 +1 provisional p.I216 0.926 199 0% 247 47% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR9G1 390174 genome.wustl.edu 37 11 56468660 56468660 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001005213.1 +1 provisional p.S266Y 0.000 369 0% 469 16.6% 0 - possibly_damaging(0.706) deleterious(0) deleterious(0.699) HMMPfam_7tm_1,superfamily_SSF81321 OR5AK3P 81228 genome.wustl.edu 37 11 56738769 56738769 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000326876 +1 known p.L82P 0.256 114 0% 124 40.3% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR5AK3P 81228 genome.wustl.edu 37 11 56739381 56739381 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000326876 +1 known p.N286T 1.000 29 0% 22 45.5% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 TNKS1BP1 85456 genome.wustl.edu 37 11 57077522 57077522 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_033396.2 -1 validated p.F888C 0.955 148 0% 215 15.3% 74 27% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL SERPING1 710 genome.wustl.edu 37 11 57373951 57373951 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000062.2 +1 reviewed p.I320M 0.002 285 0% 371 43.9% 9 22.2% possibly_damaging(0.523) deleterious(0.01) deleterious(0.582) HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin CTNND1 1500 genome.wustl.edu 37 11 57577669 57577669 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001085458.1 +1 validated p.E842* 1.000 186 0% 223 43% 13 7.6% - - - NULL OR10W1 81341 genome.wustl.edu 37 11 58034940 58034940 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_207374.3 -1 validated p.L131I 0.000 90 0% 150 47.3% 0 - possibly_damaging(0.664) tolerated(0.2) neutral(0.284) HMMPfam_7tm_1,superfamily_SSF81321 OR5B3 441608 genome.wustl.edu 37 11 58170641 58170641 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001005469.1 -1 validated p.A81D 0.000 129 0% 174 42.5% 0 - benign(0.01) tolerated(0.21) neutral(0.044) HMMPfam_7tm_1,superfamily_SSF81321 OR5B12 390191 genome.wustl.edu 37 11 58206722 58206722 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001004733.2 -1 validated p.K301N 0.102 180 0% 204 41.7% 0 - benign(0.022) deleterious(0.02) neutral(0.384) superfamily_SSF81321 LOC643637 643637 genome.wustl.edu 37 11 58818142 58818142 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_002343101.1 +1 model p.L233I 0.001 36 0% 39 20.5% 0 - - - - HMMPfam_Gly_acyl_tr_N,superfamily_Acyl-CoA N-acyltransferases (Nat) LOC100287520 100287520 genome.wustl.edu 37 11 58861476 58861476 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_002343089.1 +1 model p.S165L 0.000 67 0% 141 24.8% 0 - - - - HMMPfam_Gly_acyl_tr_N,superfamily_Acyl-CoA N-acyltransferases (Nat) FAM111A 63901 genome.wustl.edu 37 11 58920029 58920029 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001142519.1 +1 validated p.I296 0.000 40 0% 53 13.2% 6 16.6% - - - NULL OR4D10 390197 genome.wustl.edu 37 11 59245312 59245312 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001004705.1 +1 provisional p.S137I 0.130 152 0% 217 41.5% 0 - possibly_damaging(0.611) deleterious(0) deleterious(0.656) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like MS4A3 932 genome.wustl.edu 37 11 59828709 59828709 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006138.4 +1 reviewed p.P26S 0.001 141 0.7% 183 38.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL MS4A14 84689 genome.wustl.edu 37 11 60183412 60183412 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032597.3 +1 validated p.A324V 0.000 126 0% 164 39.6% 0 - possibly_damaging(0.836) tolerated(0.07) deleterious(0.639) NULL MS4A14 84689 genome.wustl.edu 37 11 60183859 60183859 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032597.3 +1 validated p.S473Y 0.001 98 0% 96 17.7% 0 - benign(0.002) tolerated(0.17) neutral(0.059) NULL MS4A5 64232 genome.wustl.edu 37 11 60198365 60198365 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_023945.2 +1 reviewed p.L84I 0.398 387 0% 504 26.4% 0 - benign(0.001) tolerated(0.92) - HMMPfam_CD20 MS4A12 54860 genome.wustl.edu 37 11 60274548 60274548 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017716.2 +1 reviewed p.S252Y 0.002 354 0% 422 43.8% 0 - probably_damaging(0.964) tolerated(0.11) deleterious(0.678) NULL CCDC86 79080 genome.wustl.edu 37 11 60615459 60615459 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024098.3 +1 validated p.R274Q 0.985 70 0% 91 47.3% 5 40% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL VWCE 220001 genome.wustl.edu 37 11 61045929 61045929 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152718.2 -1 validated p.V448 0.036 200 0% 195 42.1% 2 50% - - - HMMPfam_VWC,HMMSmart_SM00214,HMMSmart_SM00215 FADS2 9415 genome.wustl.edu 37 11 61631196 61631196 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004265.2 +1 reviewed p.N365 0.960 108 0% 121 44.6% 453 45% - - - HMMPfam_FA_desaturase RAB3IL1 5866 genome.wustl.edu 37 11 61675086 61675086 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_013401.2 -1 provisional p.R104Q 1.000 63 0% 95 35.8% 12 8.3% probably_damaging(1) tolerated(0.06) deleterious(0.823) HMMPfam_Sec2p BEST1 7439 genome.wustl.edu 37 11 61724402 61724402 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001139443.1 +1 reviewed p.N130D 1.000 63 0% 100 18% 1 0% probably_damaging(0.999) deleterious(0.03) deleterious(0.855) HMMPfam_Bestrophin FTH1 2495 genome.wustl.edu 37 11 61732251 61732251 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002032.2 -1 reviewed p.A167V 0.999 201 0% 235 45.1% 6975 42.5% benign(0.072) deleterious(0.01) neutral(0.411) superfamily_Ferritin-like AHNAK 79026 genome.wustl.edu 37 11 62291637 62291637 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001620.1 -1 validated p.P3418S 1.000 149 0% 174 48.9% 5 40% probably_damaging(0.99) tolerated(0.09) deleterious(0.738) NULL EEF1G 1937 genome.wustl.edu 37 11 62339038 62339038 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001404.4 -1 reviewed p.L118V 1.000 122 0% 157 38.2% 2512 42.3% benign(0.036) tolerated(0.1) neutral(0.288) HMMPfam_GST_C,superfamily_Glutathione S-transferase (GST) C-terminal domain TUT1 64852 genome.wustl.edu 37 11 62343184 62343184 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_022830.2 -1 reviewed p.C669 0.000 309 0% 388 38.4% 43 44.1% - - - NULL EML3 256364 genome.wustl.edu 37 11 62375716 62375716 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_153265.2 -1 validated p.S388L 1.000 207 0% 378 50.5% 12 50% probably_damaging(0.995) deleterious(0) deleterious(0.902) superfamily_WD40 repeat-like HNRNPUL2 221092 genome.wustl.edu 37 11 62490151 62490151 + Silent SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001079559.1 -1 provisional p.R339 0.998 289 0.3% 365 21.1% 96 22.9% - - - HMMPfam_SPRY,HMMSmart_SPRY TMEM223 79064 genome.wustl.edu 37 11 62558172 62558172 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001080501.2 -1 validated p.F178V 1.000 116 0% 94 38.3% 20 55% probably_damaging(0.995) deleterious(0.01) deleterious(0.863) NULL NXF1 10482 genome.wustl.edu 37 11 62568568 62568568 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006362.4 -1 reviewed p.E302* 1.000 222 0% 222 43.2% 36 22.2% - - - HMMPfam_LRR_1,superfamily_SSF52058 SLC22A8 9376 genome.wustl.edu 37 11 62763577 62763577 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004254.3 -1 reviewed p.S270L 0.001 69 0% 113 38.1% 0 - benign(0.004) deleterious(0.01) neutral(0.406) HMMPfam_MFS_1,superfamily_MFS general substrate transporter SLC22A24 283238 genome.wustl.edu 37 11 62911161 62911161 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001136506.1 -1 validated p.L31M 0.000 119 0% 174 46.6% 0 - possibly_damaging(0.903) tolerated(0.32) neutral(0.382) NULL SLC22A25 387601 genome.wustl.edu 37 11 62948223 62948223 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_199352.3 -1 validated p.E327* 0.997 220 0% 285 42.5% 0 - - - - HMMPfam_MFS_1,superfamily_MFS general substrate transporter RARRES3 5920 genome.wustl.edu 37 11 63307023 63307023 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004585.3 +1 validated p.E15D 0.999 332 0% 347 37.2% 12 50% probably_damaging(0.963) deleterious(0.02) deleterious(0.788) NULL RTN3 10313 genome.wustl.edu 37 11 63472322 63472322 + Splice_Site SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_201429.1 +1 validated e2-1 1.000 693 0% 826 45.2% 0 - - - - - FLRT1 23769 genome.wustl.edu 37 11 63884779 63884779 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_013280.4 +1 reviewed p.A347V 0.981 44 0% 58 43.1% 9 55.5% possibly_damaging(0.935) deleterious(0.05) deleterious(0.726) HMMSmart_SM00082,superfamily_L domain-like PLCB3 5331 genome.wustl.edu 37 11 64022874 64022874 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000932.2 +1 reviewed p.T158 0.032 144 0.7% 158 45.6% 26 42.3% - - - NULL CCDC88B 283234 genome.wustl.edu 37 11 64124642 64124642 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000359902 +1 known p.K607N 0.001 35 0% 58 50% 9 11.1% unknown(0) - - NULL NRXN2 9379 genome.wustl.edu 37 11 64417932 64417932 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015080.2 -1 reviewed p.L1033I 1.000 127 0% 163 46% 3 0% possibly_damaging(0.95) deleterious(0.01) deleterious(0.799) HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 EHD1 10938 genome.wustl.edu 37 11 64622006 64622006 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006795.2 -1 reviewed p.K468N 1.000 125 0% 176 45.5% 172 42.4% possibly_damaging(0.818) deleterious(0.01) deleterious(0.715) HMMSmart_SM00027,superfamily_EF-hand FAU 2197 genome.wustl.edu 37 11 64889081 64889081 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001997.3 -1 reviewed p.E37D 1.000 63 0% 70 41.4% 2413 42.3% benign(0.036) tolerated(0.69) neutral(0.004) HMMPfam_ubiquitin,HMMSmart_SM00213,PatternScan_UBIQUITIN_1,superfamily_Ubiquitin-like LOC100287960 100287960 genome.wustl.edu 37 11 64913254 64913254 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_002343095.1 -1 model p.R95C 1.000 60 0% 88 43.2% 0 - - - - HMMPfam_HIG_1_N LOC100287960 100287960 genome.wustl.edu 37 11 64913404 64913404 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_002343095.1 -1 model p.E45K 0.975 19 0% 14 50% 0 - - - - HMMPfam_HIG_1_N LOC440043 440043 genome.wustl.edu 37 11 64942920 64942920 + RNA SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XR_015843.3 -1 model NULL 1.000 20 0% 33 21.2% 3 0% - - - - SLC22A20 440044 genome.wustl.edu 37 11 65003974 65003974 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001004326.4 +1 validated p.P397S 1.000 36 0% 69 30.4% 0 - - - - NULL SCYL1 57410 genome.wustl.edu 37 11 65305743 65305743 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020680.3 +1 reviewed p.P750 0.000 34 0% 46 34.8% 182 48.9% benign(0) tolerated(0.68) neutral(0.002) NULL LTBP3 4054 genome.wustl.edu 37 11 65308627 65308627 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001130144.2 -1 reviewed p.E955K 1.000 33 0% 48 37.5% 399 44.6% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_TB,superfamily_TB module/8-cys domain SNX32 254122 genome.wustl.edu 37 11 65618832 65618832 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152760.2 +1 validated p.A248V 0.152 97 0% 133 51.1% 1 0% benign(0.352) deleterious(0.05) neutral(0.457) HMMPfam_Vps5 CATSPER1 117144 genome.wustl.edu 37 11 65793456 65793456 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_053054.3 -1 reviewed p.Y132C 0.004 86 0% 83 36.1% 0 - probably_damaging(0.995) deleterious(0.02) deleterious(0.841) NULL SF3B2 10992 genome.wustl.edu 37 11 65827418 65827418 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006842.2 +1 reviewed p.E523K 0.984 48 2.1% 60 43.3% 253 47.8% benign(0.424) tolerated(0.27) neutral(0.171) HMMPfam_DUF382 PACS1 55690 genome.wustl.edu 37 11 66009076 66009076 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018026.2 +1 reviewed p.S870A 0.980 65 0% 73 37% 62 70.9% benign(0.002) tolerated(0.92) - HMMPfam_Pacs-1 YIF1A 10897 genome.wustl.edu 37 11 66053206 66053206 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020470.2 -1 validated p.L151F 0.992 40 0% 55 41.8% 244 46.3% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_YIF1 BRMS1 25855 genome.wustl.edu 37 11 66108474 66108474 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001024957.1 -1 reviewed p.Y134 0.857 143 0% 180 43.3% 48 39.5% - - - HMMPfam_Sds3 NPAS4 266743 genome.wustl.edu 37 11 66190667 66190667 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_178864.3 +1 validated p.D258Y 1.000 127 0% 163 46% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_PAS,HMMPfam_PAS_3,superfamily_SSF55785 NPAS4 266743 genome.wustl.edu 37 11 66191547 66191547 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_178864.3 +1 validated p.E396* 0.991 108 0% 120 50.8% 0 - - - - NULL ZDHHC24 254359 genome.wustl.edu 37 11 66311393 66311393 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_207340.1 -1 provisional p.R114H 0.986 11 0% 22 50% 120 55.8% probably_damaging(0.998) tolerated(0.15) deleterious(0.716) HMMPfam_zf-DHHC RBM4B 83759 genome.wustl.edu 37 11 66436178 66436178 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_031492.2 -1 provisional p.A333T 0.997 84 0% 95 36.8% 24 41.6% benign(0) tolerated(0.12) neutral(0.261) NULL C11orf80 79703 genome.wustl.edu 37 11 66571536 66571536 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024650.3 +1 validated p.L305F 0.250 200 0% 275 42.5% 8 37.5% probably_damaging(0.976) tolerated(0.46) neutral(0.430) NULL KDM2A 22992 genome.wustl.edu 37 11 66975023 66975023 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_012308.2 +1 reviewed p.K117T 1.000 60 0% 64 18.8% 42 26.1% possibly_damaging(0.857) tolerated(0.06) deleterious(0.653) superfamily_Clavaminate synthase-like KDM2A 22992 genome.wustl.edu 37 11 67010552 67010552 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_012308.2 +1 reviewed p.K518Q 1.000 316 0% 457 44% 22 40.9% possibly_damaging(0.952) tolerated(0.1) deleterious(0.682) NULL ALDH3B2 222 genome.wustl.edu 37 11 67434155 67434155 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000695.3 -1 reviewed p.L14P 0.412 92 0% 134 35.8% 61 34.4% probably_damaging(0.998) tolerated(0.43) deleterious(0.488) NULL UNC93B1 81622 genome.wustl.edu 37 11 67764105 67764105 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000227471 -1 known p.E352K 1.000 73 0% 68 20.6% 139 10.7% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL TCIRG1 10312 genome.wustl.edu 37 11 67811376 67811376 + Splice_Site SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006019.2 +1 reviewed e7+2 1.000 37 0% 52 36.5% 4 75% - - - - CHKA 1119 genome.wustl.edu 37 11 67829447 67829447 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001277.2 -1 reviewed p.K429N 1.000 116 0% 141 46.8% 25 48% benign(0.354) tolerated(0.14) neutral(0.361) superfamily_Protein kinase-like (PK-like) SUV420H1 51111 genome.wustl.edu 37 11 67925969 67925969 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017635.3 -1 reviewed p.R615Q 0.587 297 0% 385 42.1% 21 52.3% benign(0.144) deleterious(0) neutral(0.457) NULL SUV420H1 51111 genome.wustl.edu 37 11 67926198 67926198 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017635.3 -1 reviewed p.R539W 0.961 136 0% 134 44% 12 58.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL LRP5 4041 genome.wustl.edu 37 11 68181183 68181183 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002335.2 +1 reviewed p.D844N 1.000 25 0% 42 40.5% 326 50.3% benign(0.076) tolerated(0.48) neutral(0.016) HMMPfam_Ldl_recept_b,HMMSmart_SM00135,superfamily_YWTD domain PPP6R3 55291 genome.wustl.edu 37 11 68305295 68305295 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018312.4 +1 validated p.E55K 1.000 198 0% 308 42.9% 7 14.2% possibly_damaging(0.934) deleterious(0.01) deleterious(0.786) NULL IGHMBP2 3508 genome.wustl.edu 37 11 68685276 68685276 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002180.2 +1 reviewed p.E329* 0.996 194 0% 194 38.7% 4 0% - - - HMMSmart_SM00382,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases MRGPRD 116512 genome.wustl.edu 37 11 68748161 68748161 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_198923.2 -1 validated p.E99K 0.021 55 0% 71 42.3% 1 0% possibly_damaging(0.8) tolerated(0.76) neutral(0.302) HMMPfam_7tm_1,superfamily_SSF81321 SHANK2 22941 genome.wustl.edu 37 11 70336410 70336410 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_012309.3 -1 reviewed p.R246Q 1.000 139 0% 189 12.7% 8 0% benign(0.242) tolerated(0.15) neutral(0.266) NULL DHCR7 1717 genome.wustl.edu 37 11 71152377 71152377 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001360.2 -1 reviewed p.F174 0.994 172 0% 258 47.3% 84 44% - - - HMMPfam_ERG4_ERG24 LRTOMT 220074 genome.wustl.edu 37 11 71804745 71804745 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_145309.2 +1 validated p.P96S 1.000 79 0% 77 51.9% 38 52.6% benign(0.003) tolerated(0.52) neutral(0.009) HMMPfam_LRR_1,superfamily_L domain-like LRTOMT 220074 genome.wustl.edu 37 11 71817098 71817098 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001145308.1 +1 validated p.R67Q 0.986 34 0% 34 44.1% 1 100% possibly_damaging(0.783) tolerated(0.54) neutral(0.300) NULL FOLR2 2350 genome.wustl.edu 37 11 71929626 71929626 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000321324 +1 known p.D17Y 0.000 96 0% 135 43.7% 11 0% probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL LOC220077 220077 genome.wustl.edu 37 11 71961499 71961499 + RNA SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XR_017002.2 -1 model NULL 0.002 30 0% 23 39.1% 0 - - - - - STARD10 10809 genome.wustl.edu 37 11 72466025 72466025 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006645.2 -1 validated p.E265K 1.000 20 0% 39 56.4% 333 45% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL STARD10 10809 genome.wustl.edu 37 11 72470355 72470355 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006645.2 -1 validated p.K93N 1.000 149 0% 203 36.9% 498 44.5% possibly_damaging(0.45) deleterious(0.01) deleterious(0.553) HMMPfam_START,HMMSmart_START,superfamily_SSF55961 ARHGEF17 9828 genome.wustl.edu 37 11 73020981 73020981 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014786.3 +1 validated p.R433Q 0.293 18 0% 33 24.2% 3 33.3% probably_damaging(0.954) deleterious(0) deleterious(0.842) NULL ARHGEF17 9828 genome.wustl.edu 37 11 73075572 73075572 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014786.3 +1 validated p.S1826Y 0.987 77 0% 92 19.6% 17 0% benign(0.237) deleterious(0.02) neutral(0.407) superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase RELT 84957 genome.wustl.edu 37 11 73102217 73102217 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032871.3 +1 reviewed p.V106I 0.002 220 0% 291 39.9% 2 50% possibly_damaging(0.815) tolerated(0.28) neutral(0.339) NULL SLCO2B1 11309 genome.wustl.edu 37 11 74880308 74880308 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_007256.3 +1 validated p.Y180C 0.000 96 0% 116 19.8% 4 0% benign(0.257) tolerated(0.09) neutral(0.323) HMMPfam_OATP,superfamily_MFS general substrate transporter MAP6 4135 genome.wustl.edu 37 11 75316859 75316859 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_033063.1 -1 reviewed p.A437V 1.000 209 0% 238 43.3% 2 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_STOP MOGAT2 80168 genome.wustl.edu 37 11 75438666 75438666 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_025098.2 +1 provisional p.D153Y 1.000 135 0% 154 39% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_DAGAT UVRAG 7405 genome.wustl.edu 37 11 75599883 75599883 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003369.3 +1 reviewed p.R148Q 1.000 349 0% 381 40.7% 3 0% benign(0.196) tolerated(0.68) neutral(0.020) NULL C11orf30 56946 genome.wustl.edu 37 11 76170984 76170984 + Silent SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020193.3 +1 validated p.V142 1.000 112 0% 166 45.2% 23 60.8% - - - NULL LRRC32 2615 genome.wustl.edu 37 11 76370682 76370682 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001128922.1 -1 reviewed p.R652H 1.000 167 0% 222 45% 5 0% probably_damaging(0.995) deleterious(0.02) deleterious(0.841) NULL LRRC32 2615 genome.wustl.edu 37 11 76371471 76371471 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001128922.1 -1 reviewed p.R389Q 0.008 12 0% 25 44% 2 0% benign(0.027) tolerated(0.21) neutral(0.045) HMMPfam_LRR_1,HMMSmart_LRR_TYP,superfamily_SSF52058 CAPN5 726 genome.wustl.edu 37 11 76825400 76825400 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004055.4 +1 reviewed p.D207Y 0.938 99 0% 143 37.1% 20 35% probably_damaging(0.999) tolerated(0.13) deleterious(0.743) HMMPfam_Peptidase_C2,HMMSmart_CysPc,superfamily_SSF54001 MYO7A 4647 genome.wustl.edu 37 11 76895799 76895799 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001127179.2 +1 reviewed p.S1181Y 0.000 21 0% 14 42.9% 0 - unknown(0) - - HMMSmart_SM00139 MYO7A 4647 genome.wustl.edu 37 11 76922216 76922216 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000260.3 +1 reviewed p.R2024Q 1.000 24 0% 59 40.7% 2 100% probably_damaging(0.99) tolerated(0.11) deleterious(0.713) HMMPfam_FERM_M,superfamily_Second domain of FERM,HMMSmart_SM00295 GDPD4 220032 genome.wustl.edu 37 11 76938956 76938956 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_182833.1 -1 provisional p.R493I 0.136 221 0% 237 43% 0 - benign(0.229) deleterious(0) neutral(0.468) NULL CLNS1A 1207 genome.wustl.edu 37 11 77340861 77340861 + Missense_Mutation SNP C C T rs35303781 TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001293.2 -1 reviewed p.R70Q 0.322 292 0% 376 43.4% 63 47.6% benign(0) tolerated(0.58) neutral(0.005) HMMPfam_ICln_channel CCDC90B 60492 genome.wustl.edu 37 11 82976919 82976919 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_021825.3 -1 provisional p.R233C 1.000 499 0% 590 39.7% 19 36.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DUF1640 DLG2 1740 genome.wustl.edu 37 11 83243758 83243758 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001142699.1 -1 reviewed p.S729L 1.000 418 0% 409 43% 0 - benign(0.102) deleterious(0.05) neutral(0.353) superfamily_SH3-domain DLG2 1740 genome.wustl.edu 37 11 84245711 84245711 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001142699.1 -1 reviewed p.V141L 1.000 297 0% 438 14.6% 0 - benign(0.018) tolerated(0.12) neutral(0.261) HMMPfam_MAGUK_N_PEST CCDC83 220047 genome.wustl.edu 37 11 85597400 85597400 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_173556.3 +1 provisional p.E167D 0.996 154 0% 192 35.4% 0 - probably_damaging(0.99) deleterious(0.05) deleterious(0.787) NULL EED 8726 genome.wustl.edu 37 11 85977204 85977204 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003797.2 +1 reviewed p.R269I 1.000 184 0% 203 47.3% 5 0% benign(0.002) tolerated(0.12) neutral(0.261) superfamily_WD40 repeat-like CCDC81 60494 genome.wustl.edu 37 11 86120375 86120375 + Silent SNP A A C rs141409069 by1000genomes TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_021827.4 +1 validated p.R306 0.080 129 0% 156 35.3% 0 - - - - NULL ME3 10873 genome.wustl.edu 37 11 86158143 86158143 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001014811.1 -1 reviewed p.A448 0.991 64 0% 120 45% 5 0% - - - HMMPfam_Malic_M,superfamily_NAD(P)-bd ME3 10873 genome.wustl.edu 37 11 86219860 86219860 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001014811.1 -1 reviewed p.N173H 1.000 174 0% 254 38.2% 7 14.2% benign(0.205) tolerated(0.13) neutral(0.273) HMMPfam_malic,superfamily_SSF53223 FZD4 8322 genome.wustl.edu 37 11 86662347 86662347 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_012193.2 -1 reviewed p.S484Y 1.000 125 0.8% 186 41.4% 0 - probably_damaging(0.976) tolerated(1) neutral(0.418) HMMPfam_Frizzled TMEM135 65084 genome.wustl.edu 37 11 87013343 87013343 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_022918.3 +1 validated p.I186S 1.000 222 0% 256 46.5% 3 66.6% possibly_damaging(0.561) deleterious(0.02) deleterious(0.575) NULL GRM5 2915 genome.wustl.edu 37 11 88338068 88338068 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001143831.2 -1 reviewed p.I404 1.000 95 0% 118 42.4% 0 - - - - HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I TYR 7299 genome.wustl.edu 37 11 88911925 88911925 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000372.4 +1 reviewed p.F268L 1.000 123 0% 133 22.6% 0 - benign(0.001) tolerated(0.24) neutral(0.037) HMMPfam_Tyrosinase,superfamily_Di-copper centre-containing domain NOX4 50507 genome.wustl.edu 37 11 89133548 89133548 + Splice_Site SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016931.3 -1 reviewed e10-1 1.000 80 0% 96 22.9% 0 - - - - - NOX4 50507 genome.wustl.edu 37 11 89185036 89185036 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016931.3 -1 reviewed p.A61T 0.982 241 0% 336 25% 5 20% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ferric_reduct TRIM77P 390231 genome.wustl.edu 37 11 89444633 89444633 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_002343107.1 +1 model p.R156I 0.943 180 0% 225 41.8% 0 - - - - NULL TRIM64B 642446 genome.wustl.edu 37 11 89607345 89607345 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000329862 -1 known p.E203* 0.001 337 0.3% 439 26.4% 0 - - - - NULL TRIM64B 642446 genome.wustl.edu 37 11 89608181 89608181 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000329862 -1 known p.L157I 0.000 732 0% 878 18.9% 0 - possibly_damaging(0.857) tolerated(0.15) deleterious(0.572) NULL CHORDC1 26973 genome.wustl.edu 37 11 89936572 89936572 + Silent SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_012124.2 -1 validated p.R231 0.999 234 0% 291 41.9% 16 75% - - - superfamily_HSP20-like chaperones,HMMPfam_CS FAT3 120114 genome.wustl.edu 37 11 92086875 92086875 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001008781.2 +1 validated p.E533* 0.485 81 0% 114 43.9% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like FAT3 120114 genome.wustl.edu 37 11 92087084 92087084 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001008781.2 +1 validated p.A602 0.001 66 0% 113 43.4% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like FAT3 120114 genome.wustl.edu 37 11 92087888 92087888 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001008781.2 +1 validated p.V870 0.958 152 0% 182 48.9% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like FAT3 120114 genome.wustl.edu 37 11 92532848 92532848 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001008781.2 +1 validated p.I2223 0.038 104 0% 124 45.2% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like KIAA1731 85459 genome.wustl.edu 37 11 93431337 93431337 + Silent SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_033395.1 +1 validated p.R1087 0.001 55 0% 74 45.9% 3 100% - - - NULL KIAA1731 85459 genome.wustl.edu 37 11 93431983 93431983 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_033395.1 +1 validated p.S1302L 0.005 96 0% 139 48.9% 1 0% possibly_damaging(0.873) deleterious(0) deleterious(0.784) NULL KIAA1731 85459 genome.wustl.edu 37 11 93456242 93456242 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_033395.1 +1 validated p.E1995* 0.974 93 0% 95 15.8% 0 - - - - NULL KIAA1731 85459 genome.wustl.edu 37 11 93458827 93458827 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_033395.1 +1 validated p.S2110Y 0.008 198 0% 261 38.7% 2 0% probably_damaging(0.982) tolerated(0.21) deleterious(0.470) NULL KIAA1731 85459 genome.wustl.edu 37 11 93462912 93462912 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_033395.1 +1 validated p.S2511Y 0.032 107 0% 132 40.9% 2 100% probably_damaging(0.995) deleterious(0.01) deleterious(0.863) NULL HEPHL1 341208 genome.wustl.edu 37 11 93839288 93839288 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001098672.1 +1 validated p.L1013I 1.000 192 0% 253 21.7% 0 - benign(0.001) tolerated(0.32) neutral(0.024) superfamily_Cupredoxin,HMMPfam_Cu-oxidase_2 HEPHL1 341208 genome.wustl.edu 37 11 93844857 93844857 + Splice_Site SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001098672.1 +1 validated e20-1 0.986 87 0% 97 21.6% 0 - - - - - MRE11A 4361 genome.wustl.edu 37 11 94204822 94204822 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005591.3 -1 reviewed p.K255E 1.000 302 0% 394 45.7% 9 33.3% benign(0.039) tolerated(0.28) neutral(0.034) HMMPfam_Mre11_DNA_bind,superfamily_Metallo-dependent phosphatases MRE11A 4361 genome.wustl.edu 37 11 94224109 94224109 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005591.3 -1 reviewed p.I15L 1.000 202 0% 301 19.9% 2 0% benign(0.169) deleterious(0.01) neutral(0.421) HMMPfam_Metallophos,superfamily_Metallo-dependent phosphatases PIWIL4 143689 genome.wustl.edu 37 11 94322298 94322298 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152431.2 +1 validated p.R309I 1.000 225 0% 276 36.6% 4 0% possibly_damaging(0.816) deleterious(0) deleterious(0.753) HMMPfam_PAZ,superfamily_PAZ domain KDM4DL 390245 genome.wustl.edu 37 11 94759461 94759461 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000450979 +1 known p.S247L 1.000 64 0% 96 56.2% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_JmjC,HMMPfam_JmjC SESN3 143686 genome.wustl.edu 37 11 94924638 94924638 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_144665.2 -1 provisional p.R91Q 1.000 134 0% 215 44.7% 10 50% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_PA26 MAML2 84441 genome.wustl.edu 37 11 95825573 95825573 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032427.1 -1 validated p.F541C 0.004 92 0% 134 39.6% 6 33.3% unknown(0) tolerated(0.12) - NULL CCDC82 79780 genome.wustl.edu 37 11 96116521 96116521 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024725.3 -1 validated p.Q301H 0.780 519 0.2% 653 44.3% 7 57.1% benign(0.267) tolerated(0.09) neutral(0.325) NULL JRKL 8690 genome.wustl.edu 37 11 96124620 96124620 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003772.3 +1 reviewed p.I269M 1.000 104 0% 112 49.1% 6 83.3% possibly_damaging(0.475) tolerated(0.22) neutral(0.199) HMMPfam_DDE C11orf70 85016 genome.wustl.edu 37 11 101953829 101953829 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032930.1 +1 predicted p.A197T 0.001 171 0% 252 30.2% 1 0% benign(0) tolerated(0.57) neutral(0.006) NULL MMP7 4316 genome.wustl.edu 37 11 102395704 102395704 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002423.3 -1 reviewed p.F192 1.000 61 0% 96 49% 28 53.5% - - - HMMPfam_Peptidase_M10,HMMSmart_ZnMc,superfamily_SSF55486 MMP8 4317 genome.wustl.edu 37 11 102593330 102593330 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002424.2 -1 reviewed p.I59 0.003 330 0% 341 48.4% 0 - - - - HMMPfam_PG_binding_1,superfamily_PGBD_like DYNC2H1 79659 genome.wustl.edu 37 11 102984967 102984967 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001080463.1 +1 reviewed p.G168C 1.000 147 0% 128 47.7% 0 - probably_damaging(0.996) tolerated(0.09) deleterious(0.758) HMMPfam_DHC_N1 DYNC2H1 79659 genome.wustl.edu 37 11 103041640 103041640 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001080463.1 +1 reviewed p.R1726Q 0.997 810 0.1% 930 45.8% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases DYNC2H1 79659 genome.wustl.edu 37 11 103041687 103041687 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001080463.1 +1 reviewed p.E1742* 1.000 852 0% 926 41.4% 0 - - - - HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases DYNC2H1 79659 genome.wustl.edu 37 11 103130639 103130639 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001080463.1 +1 reviewed p.R3550I 1.000 127 0% 142 46.5% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL DDI1 414301 genome.wustl.edu 37 11 103907774 103907774 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001001711.2 +1 validated p.L75P 0.006 61 0% 93 17.2% 0 - possibly_damaging(0.942) tolerated(0.24) neutral(0.424) HMMPfam_ubiquitin,HMMSmart_UBQ,superfamily_SSF54236 CASP1 834 genome.wustl.edu 37 11 104904999 104904999 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_033292.2 -1 reviewed p.Q70H 0.000 456 0% 558 24.6% 6 0% benign(0.136) deleterious(0.01) neutral(0.417) HMMPfam_CARD,HMMSmart_SM00114,superfamily_DEATH domain CARD16 114769 genome.wustl.edu 37 11 104914259 104914259 + Silent SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_052889.2 -1 validated p.G96 0.015 292 0% 346 44.5% 5 0% - - - NULL GRIA4 2893 genome.wustl.edu 37 11 105797506 105797506 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000829.3 +1 reviewed p.F629L 1.000 233 0% 289 38.4% 0 - probably_damaging(0.967) deleterious(0) deleterious(0.853) HMMPfam_Lig_chan,HMMSmart_PBPe,superfamily_SSF53850 MSANTD4 84437 genome.wustl.edu 37 11 105881570 105881570 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032424.1 -1 validated p.T25 0.918 161 0% 256 37.5% 0 - - - - NULL KBTBD3 143879 genome.wustl.edu 37 11 105929686 105929686 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152433.3 -1 validated p.E47K 1.000 208 0% 277 42.6% 3 66.6% possibly_damaging(0.471) tolerated(0.13) neutral(0.408) superfamily_POZ domain,HMMPfam_BTB AASDHPPT 60496 genome.wustl.edu 37 11 105967614 105967614 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015423.2 +1 reviewed p.R304* 0.637 150 0% 212 38.7% 17 47% - - - NULL GUCY1A2 2977 genome.wustl.edu 37 11 106849393 106849393 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000855.1 -1 validated p.E147* 0.991 385 0% 424 44.3% 0 - - - - HMMPfam_HNOB CWF19L2 143884 genome.wustl.edu 37 11 107299910 107299910 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152434.2 -1 validated p.E350* 0.088 342 0% 337 40.1% 0 - - - - NULL CWF19L2 143884 genome.wustl.edu 37 11 107325236 107325236 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152434.2 -1 validated p.K93N 1.000 497 0% 536 39.9% 0 - probably_damaging(1) tolerated(0.06) deleterious(0.823) NULL RAB39A 54734 genome.wustl.edu 37 11 107832954 107832954 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017516.1 +1 provisional p.I170 0.993 139 0% 206 46.6% 0 - - - - HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases ACAT1 38 genome.wustl.edu 37 11 108004590 108004590 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000019.3 +1 reviewed p.F55C 1.000 162 0% 202 40.1% 33 60.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Thiolase_N,superfamily_Thiolase-like ATM 472 genome.wustl.edu 37 11 108198431 108198431 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000051.3 +1 reviewed p.L2345F 1.000 191 0% 199 16.6% 3 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_FAT,superfamily_ARM repeat DDX10 1662 genome.wustl.edu 37 11 108586616 108586616 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004398.2 +1 reviewed p.E445* 1.000 152 0% 147 19% 0 - - - - superfamily_P-loop containing nucleoside triphosphate hydrolases DDX10 1662 genome.wustl.edu 37 11 108586679 108586679 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004398.2 +1 reviewed p.E466* 1.000 161 0% 150 36.7% 1 0% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases DDX10 1662 genome.wustl.edu 37 11 108722882 108722882 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004398.2 +1 reviewed p.E750D 0.999 187 0% 255 41.2% 3 66.6% probably_damaging(0.996) tolerated(0.32) deleterious(0.486) NULL RDX 5962 genome.wustl.edu 37 11 110108287 110108287 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002906.3 -1 reviewed p.R394Q 0.900 339 0% 420 43.8% 12 33.3% benign(0.001) tolerated(1) - HMMPfam_ERM RDX 5962 genome.wustl.edu 37 11 110134866 110134866 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002906.3 -1 reviewed p.E96* 1.000 157 0% 172 61.6% 0 - - - - HMMPfam_FERM_M,superfamily_Second domain of FERM,HMMSmart_SM00295 ARHGAP20 57569 genome.wustl.edu 37 11 110450473 110450473 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020809.2 -1 validated p.S1066Y 0.001 67 0% 77 35.1% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL LAYN 143903 genome.wustl.edu 37 11 111414717 111414717 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_178834.3 +1 provisional p.R52Q 0.997 99 0% 112 43.8% 0 - benign(0.033) tolerated(0.48) neutral(0.012) HMMPfam_Lectin_C,HMMSmart_CLECT,superfamily_C-type_lectin_fold PPP2R1B 5519 genome.wustl.edu 37 11 111618707 111618707 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_181699.2 -1 reviewed p.S457F 1.000 251 0% 335 42.4% 8 50% possibly_damaging(0.657) deleterious(0.01) deleterious(0.637) HMMPfam_HEAT,superfamily_ARM-type_fold PPP2R1B 5519 genome.wustl.edu 37 11 111631718 111631718 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_181699.2 -1 reviewed p.E122* 1.000 60 0% 106 41.5% 9 11.1% - - - HMMPfam_HEAT,superfamily_ARM-type_fold C11orf1 64776 genome.wustl.edu 37 11 111753196 111753196 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_022761.2 +1 validated p.F50L 1.000 119 0% 139 47.5% 27 70.3% probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_DUF1143 C11orf57 55216 genome.wustl.edu 37 11 111951190 111951190 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001082969.1 +1 validated p.K76N 0.998 199 0% 240 47.5% 4 75% probably_damaging(0.962) tolerated(0.32) neutral(0.429) NULL TIMM8B 26521 genome.wustl.edu 37 11 111957367 111957367 + Silent SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000509359 -1 known p.T35A 0.980 18 0% 19 47.4% 197 23.3% - - - NULL BCO2 83875 genome.wustl.edu 37 11 112046374 112046374 + Missense_Mutation SNP C C G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_031938.4 +1 validated p.A17G 0.001 266 0% 317 12% 0 - probably_damaging(0.965) deleterious(0) deleterious(0.851) NULL TTC12 54970 genome.wustl.edu 37 11 113211391 113211391 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017868.3 +1 validated p.E278K 1.000 258 0% 309 39.8% 12 33.3% possibly_damaging(0.916) tolerated(0.35) neutral(0.388) superfamily_ARM-type_fold USP28 57646 genome.wustl.edu 37 11 113683225 113683225 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020886.2 -1 validated p.V582A 1.000 150 0% 204 28.4% 21 19% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_UCH,superfamily_Cysteine proteinases USP28 57646 genome.wustl.edu 37 11 113701595 113701595 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020886.2 -1 validated p.R302C 1.000 423 0% 477 41.5% 6 33.3% possibly_damaging(0.732) tolerated(0.17) neutral(0.327) HMMPfam_UCH,superfamily_Cysteine proteinases USP28 57646 genome.wustl.edu 37 11 113704272 113704272 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020886.2 -1 validated p.R210I 1.000 184 0% 194 27.3% 2 0% probably_damaging(0.994) deleterious(0.03) deleterious(0.817) HMMPfam_UCH,superfamily_Cysteine proteinases HTR3A 3359 genome.wustl.edu 37 11 113857672 113857672 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_213621.3 +1 reviewed p.L380M 0.994 34 0% 52 48.1% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM FAM55D 54827 genome.wustl.edu 37 11 114441878 114441878 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001077639.1 -1 validated p.K473E 0.995 240 0% 309 36.9% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL FAM55B 120406 genome.wustl.edu 37 11 114577232 114577232 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_182495.5 +1 validated p.K420N 0.000 145 0% 181 45.9% 0 - benign(0) tolerated(0.34) neutral(0.023) NULL SIK3 23387 genome.wustl.edu 37 11 116730253 116730253 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000445177 -1 known p.E825K 0.916 87 0% 149 36.2% 94 43.6% - - - NULL TAGLN 6876 genome.wustl.edu 37 11 117074164 117074164 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001001522.1 +1 reviewed p.K108E 1.000 98 0% 135 25.2% 137 5.1% benign(0.341) tolerated(0.76) neutral(0.108) HMMPfam_CH,HMMSmart_SM00033,superfamily_Calponin-homology domain CH-domain PCSK7 9159 genome.wustl.edu 37 11 117079644 117079644 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004716.2 -1 reviewed p.S554P 1.000 68 0% 95 14.7% 78 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_P_proprotein,superfamily_Gal_bind_like CEP164 22897 genome.wustl.edu 37 11 117222579 117222579 + Missense_Mutation SNP G G A rs148916200 by1000genomes TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014956.4 +1 validated p.E90K 1.000 208 0% 255 43.5% 14 28.5% possibly_damaging(0.456) deleterious(0) deleterious(0.594) superfamily_WW domain DSCAML1 57453 genome.wustl.edu 37 11 117321344 117321344 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020693.2 -1 provisional p.S1270Y 1.000 47 0% 69 37.7% 0 - possibly_damaging(0.716) deleterious(0) deleterious(0.704) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III TMPRSS13 84000 genome.wustl.edu 37 11 117774697 117774697 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001077263.1 -1 validated p.R501C 0.001 70 0% 104 47.1% 12 58.3% probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases TMPRSS13 84000 genome.wustl.edu 37 11 117782544 117782544 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001077263.1 -1 validated p.D281N 0.007 133 0% 132 46.2% 7 57.1% benign(0.019) tolerated(0.08) neutral(0.301) HMMSmart_SM00202,superfamily_SRCR-like IL10RA 3587 genome.wustl.edu 37 11 117870143 117870143 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001558.3 +1 reviewed p.S508 0.000 36 0% 52 50% 1 0% - - - NULL TMPRSS4 56649 genome.wustl.edu 37 11 117985926 117985926 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_019894.3 +1 reviewed p.A361 0.001 81 0% 123 13% 314 5% - - - HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases MPZL2 10205 genome.wustl.edu 37 11 118128024 118128024 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005797.3 -1 reviewed p.E197* 1.000 218 0% 314 41.1% 25 28% - - - NULL UBE4A 9354 genome.wustl.edu 37 11 118250338 118250338 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004788.2 +1 reviewed p.N590 1.000 204 0% 228 51.8% 31 41.9% - - - HMMPfam_Ufd2P_core MLL 4297 genome.wustl.edu 37 11 118374928 118374928 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005933.2 +1 validated p.S2771Y 0.500 104 0% 107 11.2% 5 0% benign(0.118) - - NULL DDX6 1656 genome.wustl.edu 37 11 118626210 118626210 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004397.4 -1 reviewed p.L393M 1.000 91 0% 113 36.3% 41 39% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Helicase_C,HMMSmart_HELICc,superfamily_SSF52540 BCL9L 283149 genome.wustl.edu 37 11 118772891 118772891 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_182557.2 -1 validated p.R521C 1.000 60 0% 66 37.9% 19 42.1% probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL BCL9L 283149 genome.wustl.edu 37 11 118774022 118774022 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_182557.2 -1 validated p.G224 0.283 4 0.000 16 0.562 1 100% - - - NULL HYOU1 10525 genome.wustl.edu 37 11 118916313 118916313 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001130991.1 -1 reviewed p.E998K 1.000 145 0% 145 46.2% 104 53.8% probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL VPS11 55823 genome.wustl.edu 37 11 118949082 118949082 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000443691 +1 known p.S292L 0.000 45 0% 62 51.6% 2 50% - - - NULL C2CD2L 9854 genome.wustl.edu 37 11 118984984 118984984 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014807.3 +1 validated p.S607 0.315 109 0% 145 49% 20 65% - - - NULL CCDC153 283152 genome.wustl.edu 37 11 119064502 119064502 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001145018.1 -1 validated p.R77Q 0.027 304 0% 339 49% 1 100% benign(0.037) tolerated(0.74) neutral(0.004) NULL CCDC153 283152 genome.wustl.edu 37 11 119066179 119066179 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001145018.1 -1 validated p.E7* 0.268 635 0% 767 40.3% 0 - - - - NULL CBL 867 genome.wustl.edu 37 11 119145620 119145620 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005188.2 +1 reviewed p.E276K 1.000 218 0% 241 38.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cbl_N3,superfamily_SSF55550 GRIK4 2900 genome.wustl.edu 37 11 120852858 120852858 + Silent SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014619.2 +1 reviewed p.I813 1.000 663 0.2% 737 47.9% 0 - - - - HMMPfam_Lig_chan TECTA 7007 genome.wustl.edu 37 11 120989266 120989266 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005422.2 +1 reviewed p.L348 0.981 85 0% 111 41.4% 1 100% - - - HMMPfam_VWD,HMMSmart_SM00216,HMMSmart_SM00215 SORL1 6653 genome.wustl.edu 37 11 121393638 121393638 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003105.4 +1 reviewed p.K512N 1.000 172 0% 200 49% 16 31.2% possibly_damaging(0.909) tolerated(0.08) deleterious(0.662) HMMSmart_SM00602,superfamily_Oligoxyloglucan reducing end-specific cellobiohydrolase SORL1 6653 genome.wustl.edu 37 11 121491837 121491837 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003105.4 +1 reviewed p.R1985H 0.999 215 0% 262 45% 11 36.3% probably_damaging(0.976) tolerated(0.07) deleterious(0.737) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III SORL1 6653 genome.wustl.edu 37 11 121498379 121498379 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003105.4 +1 reviewed p.T2160 0.024 57 1.8% 94 43.6% 38 55.2% - - - NULL UBASH3B 84959 genome.wustl.edu 37 11 122653904 122653904 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032873.4 +1 validated p.R249W 1.000 312 0% 389 48.6% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL C11orf63 79864 genome.wustl.edu 37 11 122805249 122805249 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024806.2 +1 validated p.R367Q 0.000 111 0% 148 39.2% 4 75% possibly_damaging(0.819) deleterious(0) deleterious(0.754) NULL CLMP 79827 genome.wustl.edu 37 11 122944391 122944391 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024769.2 -1 validated p.R305C 1.000 157 0% 159 50.3% 3 0% probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL TMEM225 338661 genome.wustl.edu 37 11 123755959 123755959 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001013743.1 -1 provisional p.W58* 0.999 111 0% 152 42.8% 0 - - - - NULL OR8D4 338662 genome.wustl.edu 37 11 123777178 123777178 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001005197.1 +1 provisional p.L14I 0.818 168 0% 190 41.1% 0 - benign(0.068) deleterious(0.01) neutral(0.410) superfamily_SSF81321 OR6T1 219874 genome.wustl.edu 37 11 123814475 123814475 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001005187.1 -1 provisional p.Q24P 0.002 60 0% 92 35.9% 0 - possibly_damaging(0.768) deleterious(0) deleterious(0.730) superfamily_SSF81321 OR10G4 390264 genome.wustl.edu 37 11 123887031 123887031 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001004462.1 +1 provisional p.F250 0.022 271 0% 339 49.9% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR8G5 219865 genome.wustl.edu 37 11 124135562 124135562 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001005198.1 +1 provisional p.I280 0.000 303 0% 339 48.4% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR8D2 283160 genome.wustl.edu 37 11 124189609 124189609 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001002918.1 -1 provisional p.R162H 0.001 106 0% 117 41.9% 0 - benign(0.001) tolerated(0.18) neutral(0.056) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR8B8 26493 genome.wustl.edu 37 11 124310774 124310774 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_012378.1 -1 provisional p.D70Y 0.999 288 0% 368 41.3% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like CCDC15 80071 genome.wustl.edu 37 11 124857438 124857438 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_025004.2 +1 validated p.S439N 0.051 182 0% 214 39.7% 1 0% benign(0) tolerated(0.86) neutral(0.001) NULL SLC37A2 219855 genome.wustl.edu 37 11 124953755 124953755 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_198277.2 +1 validated p.D341N 1.000 150 0% 236 37.3% 2 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter FEZ1 9638 genome.wustl.edu 37 11 125359533 125359533 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005103.3 -1 reviewed p.E47D 1.000 154 0% 158 47.5% 0 - possibly_damaging(0.556) tolerated(0.21) neutral(0.233) NULL HYLS1 219844 genome.wustl.edu 37 11 125770101 125770101 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001134793.1 +1 reviewed p.R280C 1.000 161 0% 208 44.7% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CDON 50937 genome.wustl.edu 37 11 125889547 125889547 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016952.4 -1 validated p.K155E 0.999 241 0% 284 47.9% 1 0% possibly_damaging(0.918) deleterious(0.05) deleterious(0.714) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin DCPS 28960 genome.wustl.edu 37 11 126208231 126208231 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014026.3 +1 validated p.F191 0.909 216 0% 278 45% 64 31.2% - - - HMMPfam_DcpS,superfamily_His_triad-like_motif KIRREL3 84623 genome.wustl.edu 37 11 126333134 126333134 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032531.3 -1 reviewed p.E220D 0.985 139 0% 200 12.5% 0 - benign(0.022) tolerated(1) neutral(0.001) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_C2-set_2,superfamily_Immunoglobulin FLI1 2313 genome.wustl.edu 37 11 128638109 128638109 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002017.3 +1 validated p.K109N 1.000 215 0% 284 41.5% 11 0% benign(0.039) deleterious(0.04) neutral(0.351) superfamily_SAM/Pointed domain KCNJ1 3758 genome.wustl.edu 37 11 128709937 128709937 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000220.2 -1 reviewed p.A87S 0.975 127 0% 149 51% 0 - benign(0.03) tolerated(1) neutral(0.002) HMMPfam_IRK,superfamily_Voltage-gated potassium channels KCNJ5 3762 genome.wustl.edu 37 11 128781855 128781855 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000890.3 +1 reviewed p.I229 0.930 103 0% 123 38.2% 1 0% - - - HMMPfam_IRK,superfamily_Ig_E-set ARHGAP32 9743 genome.wustl.edu 37 11 128840199 128840199 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001142685.1 -1 validated p.Y1623H 1.000 223 0% 286 28.3% 13 46.1% probably_damaging(0.999) tolerated(0.34) deleterious(0.513) NULL NFRKB 4798 genome.wustl.edu 37 11 129745356 129745356 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006165.3 -1 validated p.R609W 0.999 91 1.1% 124 50% 33 42.4% unknown(0) deleterious(0) - NULL NFRKB 4798 genome.wustl.edu 37 11 129746668 129746668 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006165.3 -1 validated p.E590D 0.986 46 0% 60 45% 40 52.5% unknown(0) tolerated(0.7) - NULL NFRKB 4798 genome.wustl.edu 37 11 129751369 129751369 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006165.3 -1 validated p.F476L 1.000 282 0% 319 38.6% 2 50% unknown(0) tolerated(0.3) - NULL SNX19 399979 genome.wustl.edu 37 11 130779960 130779960 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014758.2 -1 validated p.R663C 1.000 161 0% 183 43.2% 10 50% probably_damaging(1) deleterious(0) deleterious(0.945) NULL OPCML 4978 genome.wustl.edu 37 11 132307180 132307180 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002545.3 -1 reviewed p.Y200 0.921 129 0% 153 43.1% 0 - - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin IGSF9B 22997 genome.wustl.edu 37 11 133790149 133790149 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014987.1 -1 validated p.A1157 0.999 15 0% 29 31% 0 - - - - NULL IGSF9B 22997 genome.wustl.edu 37 11 133790490 133790490 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014987.1 -1 validated p.E1044* 1.000 38 0% 36 52.8% 0 - - - - NULL IGSF9B 22997 genome.wustl.edu 37 11 133805626 133805626 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014987.1 -1 validated p.D285N 1.000 20 0% 27 66.7% 0 - probably_damaging(0.958) deleterious(0) deleterious(0.846) HMMSmart_IGc2,HMMSmart_FN3,HMMPfam_I-set,superfamily_SSF48726 IGSF9B 22997 genome.wustl.edu 37 11 133807762 133807762 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014987.1 -1 validated p.K168 1.000 158 0% 233 41.2% 0 - - - - HMMSmart_IGc2,HMMPfam_I-set,superfamily_SSF48726 JAM3 83700 genome.wustl.edu 37 11 134014230 134014230 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032801.3 +1 reviewed p.V162 0.505 145 0% 207 46.9% 6 0% - - - HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin GLB1L3 112937 genome.wustl.edu 37 11 134179751 134179751 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000425777 +1 known p.S161Y 0.000 50 0% 55 56.4% 0 - - - - NULL SLC6A12 6539 genome.wustl.edu 37 12 313749 313749 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001122847.1 -1 validated p.K110N 1.000 39 0% 61 29.5% 0 - probably_damaging(0.998) tolerated(0.19) deleterious(0.524) HMMPfam_SNF ERC1 23085 genome.wustl.edu 37 12 1289744 1289744 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_178040.2 +1 reviewed p.K592N 1.000 198 0.5% 241 17% 11 18.1% probably_damaging(1) tolerated(0.17) deleterious(0.559) superfamily_Prefoldin,HMMPfam_Cast CACNA2D4 93589 genome.wustl.edu 37 12 1965272 1965272 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_172364.4 -1 reviewed p.I686 1.000 56 0% 76 35.5% 0 - - - - NULL CACNA2D4 93589 genome.wustl.edu 37 12 1969368 1969368 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_172364.4 -1 reviewed p.R628Q 1.000 108 0% 139 42.4% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CACNA2D4 93589 genome.wustl.edu 37 12 2019087 2019087 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_172364.4 -1 reviewed p.F157L 1.000 76 0% 150 48% 0 - benign(0.091) tolerated(0.68) neutral(0.009) HMMPfam_VWA_N CACNA2D4 93589 genome.wustl.edu 37 12 2022201 2022201 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_172364.4 -1 reviewed p.V138 0.818 160 0% 269 40.1% 0 - - - - NULL CACNA1C 775 genome.wustl.edu 37 12 2602492 2602492 + Silent SNP C C T rs182805644 by1000genomes TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_199460.2 +1 reviewed p.F351 1.000 68 0% 118 12.7% 0 - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels CACNA1C 775 genome.wustl.edu 37 12 2711054 2711054 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_199460.2 +1 reviewed p.S983Y 1.000 271 0% 396 41.9% 1 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels CACNA1C 775 genome.wustl.edu 37 12 2800120 2800120 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_199460.2 +1 reviewed p.V2141I 1.000 25 0% 37 40.5% 1 0% benign(0.051) tolerated(0.08) neutral(0.303) NULL CACNA1C 775 genome.wustl.edu 37 12 2800306 2800306 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_199460.2 +1 reviewed p.R2203W 0.042 33 0% 31 41.9% 0 - benign(0.014) deleterious(0.03) neutral(0.365) NULL FKBP4 2288 genome.wustl.edu 37 12 2909216 2909216 + Silent SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002014.3 +1 reviewed p.S258 0.683 160 0% 163 29.4% 55 40% - - - superfamily_SSF48452 FOXM1 2305 genome.wustl.edu 37 12 2973904 2973904 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_202002.1 -1 validated p.P345 0.105 369 0.3% 515 15.7% 41 17% - - - NULL TEAD4 7004 genome.wustl.edu 37 12 3131073 3131073 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003213.2 +1 reviewed p.E263K 1.000 117 0% 131 32.1% 19 26.3% possibly_damaging(0.909) deleterious(0) deleterious(0.806) HMMPfam_TEA EFCAB4B 84766 genome.wustl.edu 37 12 3763380 3763380 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001144958.1 -1 validated p.E348 1.000 66 0% 83 32.5% 0 - - - - NULL EFCAB4B 84766 genome.wustl.edu 37 12 3768821 3768821 + Splice_Site SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001144958.1 -1 validated e5-1 1.000 288 0% 352 42.9% 0 - - - - - EFCAB4B 84766 genome.wustl.edu 37 12 3788124 3788124 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001144958.1 -1 validated p.R161W 0.998 223 0% 273 47.3% 0 - benign(0.314) tolerated(0.19) neutral(0.148) NULL PARP11 57097 genome.wustl.edu 37 12 3931093 3931093 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020367.4 -1 validated p.R165Q 1.000 177 0% 215 39.1% 1 0% benign(0.076) tolerated(0.44) neutral(0.018) HMMPfam_PARP,superfamily_ADP-ribosylation ENSG00000118976 0 genome.wustl.edu 37 12 3949396 3949396 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000237841 +1 known p.S310Y 0.968 290 0% 337 46.3% 0 - - - - NULL CCND2 894 genome.wustl.edu 37 12 4398007 4398007 + Splice_Site SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001759.3 +1 validated e4-1 1.000 100 0% 115 40% 0 - - - - - C12orf4 57102 genome.wustl.edu 37 12 4626274 4626274 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020374.2 -1 predicted p.V372A 1.000 280 0% 375 45.1% 1 100% benign(0.008) tolerated(0.28) neutral(0.032) HMMPfam_DUF2362 C12orf4 57102 genome.wustl.edu 37 12 4627349 4627349 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020374.2 -1 predicted p.R303I 1.000 212 0% 282 39.7% 0 - possibly_damaging(0.918) tolerated(0.39) neutral(0.385) HMMPfam_DUF2362 DYRK4 8798 genome.wustl.edu 37 12 4702175 4702175 + Silent SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003845.1 +1 provisional p.L42 0.999 85 0% 122 48.4% 0 - - - - NULL AKAP3 10566 genome.wustl.edu 37 12 4737649 4737649 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006422.2 -1 reviewed p.R140H 1.000 231 0% 298 42.6% 0 - probably_damaging(0.997) tolerated(0.21) deleterious(0.510) HMMPfam_RII_binding_1,HMMSmart_SM00807 KCNA6 3742 genome.wustl.edu 37 12 4920395 4920395 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002235.3 +1 reviewed p.F396 0.997 167 0.6% 227 45.8% 0 - - - - HMMPfam_Ion_trans,superfamily_SSF81324 LOC390282 390282 genome.wustl.edu 37 12 5141820 5141820 + Silent SNP G G A rs191378000 by1000genomes TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_372447.5 -1 model p.F92 0.999 49 0% 66 47% 0 - - - - NULL LOC390282 390282 genome.wustl.edu 37 12 5141938 5141938 + Missense_Mutation SNP C C A rs138419600 by1000genomes TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_372447.5 -1 model p.R53L 1.000 33 0% 41 48.8% 1 0% - - - NULL KCNA5 3741 genome.wustl.edu 37 12 5153733 5153733 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002234.2 +1 reviewed p.Q140H 1.000 22 0% 24 50% 0 - benign(0.153) deleterious(0) neutral(0.458) HMMSmart_SM00225,HMMPfam_K_tetra,superfamily_POZ domain KCNA5 3741 genome.wustl.edu 37 12 5154117 5154117 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002234.2 +1 reviewed p.C268* 0.955 56 0% 77 44.2% 0 - - - - superfamily_Voltage-gated potassium channels KCNA5 3741 genome.wustl.edu 37 12 5155086 5155086 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002234.2 +1 reviewed p.K591N 1.000 33 0% 24 54.2% 0 - benign(0.006) tolerated(0.07) neutral(0.319) NULL VWF 7450 genome.wustl.edu 37 12 6167144 6167144 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000552.3 -1 reviewed p.D534N 1.000 20 0% 15 46.7% 32 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_VWD,HMMSmart_SM00216 PLEKHG6 55200 genome.wustl.edu 37 12 6422910 6422910 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001144856.1 +1 validated p.G85D 0.000 21 0% 40 47.5% 4 50% benign(0) deleterious(0.02) neutral(0.383) NULL TNFRSF1A 7132 genome.wustl.edu 37 12 6442260 6442260 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001065.2 -1 reviewed p.E176* 0.001 107 0% 183 12.6% 89 4.4% - - - HMMSmart_SM00208,PatternScan_EGF_2,superfamily_TNF receptor-like LTBR 4055 genome.wustl.edu 37 12 6495603 6495603 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002342.1 +1 reviewed p.E220D 0.895 113 0% 103 38.8% 170 42.9% unknown(0) tolerated(0.28) - NULL NCAPD2 9918 genome.wustl.edu 37 12 6632016 6632016 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014865.3 +1 validated p.F659L 1.000 523 0% 610 44.8% 38 39.4% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ARM repeat ENSG00000247853 0 genome.wustl.edu 37 12 6691996 6691996 + RNA SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000501075 +1 known NULL 0.000 142 0% 176 42% 0 - - - - - ENSG00000247853 0 genome.wustl.edu 37 12 6692690 6692690 + RNA SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000501075 +1 known NULL 0.001 26 0% 21 23.8% 0 - - - - - CHD4 1108 genome.wustl.edu 37 12 6709723 6709723 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001273.2 -1 reviewed p.R347Q 0.990 183 0% 213 42.3% 29 24.1% benign(0.208) tolerated(0.21) neutral(0.064) NULL ACRBP 84519 genome.wustl.edu 37 12 6753672 6753672 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032489.2 -1 reviewed p.A192V 0.000 305 0.3% 451 45.7% 2 50% benign(0) tolerated(0.09) neutral(0.296) HMMPfam_PBP_sp32 LEPREL2 10536 genome.wustl.edu 37 12 6939612 6939612 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000290510 +1 known p.Q248H 0.134 45 0% 56 19.6% 4 0% benign(0) tolerated(0.09) neutral(0.296) NULL CDCA3 83461 genome.wustl.edu 37 12 6959719 6959719 + Silent SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_031299.4 -1 validated p.Q54 0.001 144 0% 123 50.4% 20 50% - - - NULL USP5 8078 genome.wustl.edu 37 12 6972513 6972513 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001098536.1 +1 validated p.F642L 1.000 202 0% 246 16.3% 6 0% benign(0) tolerated(0.49) neutral(0.011) HMMPfam_UCH,superfamily_Cysteine proteinases LRRC23 10233 genome.wustl.edu 37 12 7015636 7015636 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001135217.1 +1 validated p.E100D 1.000 137 0% 199 47.7% 33 51.5% benign(0.002) tolerated(0.69) neutral(0.002) HMMPfam_LRR_1,superfamily_L domain-like C1RL 51279 genome.wustl.edu 37 12 7260892 7260892 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016546.2 -1 validated p.D85 0.998 73 0% 81 46.9% 19 26.3% unknown(0) - - HMMPfam_CUB,HMMSmart_CUB,superfamily_CUB CLSTN3 9746 genome.wustl.edu 37 12 7303652 7303652 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014718.3 +1 validated p.R840S 0.998 24 0% 46 45.7% 78 57.6% benign(0.003) tolerated(0.88) - NULL CLSTN3 9746 genome.wustl.edu 37 12 7310654 7310654 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014718.3 +1 validated p.E950K 0.994 64 0% 101 47.5% 96 40.6% unknown(0) tolerated(0.08) - NULL ACSM4 341392 genome.wustl.edu 37 12 7470744 7470744 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001080454.1 +1 provisional p.R296Q 0.906 265 0% 330 39.7% 0 - benign(0) tolerated(0.65) neutral(0.003) HMMPfam_AMP-binding,superfamily_SSF56801 CD163L1 283316 genome.wustl.edu 37 12 7527893 7527893 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_174941.4 -1 reviewed p.V995 0.112 49 0% 73 45.2% 0 - - - - HMMPfam_SRCR,HMMSmart_SM00202,superfamily_SRCR-like CD163L1 283316 genome.wustl.edu 37 12 7585244 7585244 + Silent SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_174941.4 -1 reviewed p.T178 0.258 190 0% 231 41.6% 0 - - - - HMMPfam_SRCR,PatternScan_SRCR_1,HMMSmart_SM00202,superfamily_SRCR-like SLC2A14 144195 genome.wustl.edu 37 12 7982464 7982464 + Silent SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_153449.2 -1 provisional p.G160 0.800 181 0% 255 49% 0 - - - - HMMPfam_Sugar_tr,PatternScan_SUGAR_TRANSPORT_2,superfamily_MFS general substrate transporter SLC2A14 144195 genome.wustl.edu 37 12 7984354 7984354 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_153449.2 -1 provisional p.K63Q 0.001 145 0% 187 41.2% 0 - benign(0.006) tolerated(0.19) neutral(0.050) HMMPfam_Sugar_tr,superfamily_MFS general substrate transporter SLC2A3 6515 genome.wustl.edu 37 12 8075621 8075621 + Splice_Site SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006931.2 -1 validated e9-1 0.489 166 0% 181 39.8% 0 - - - - - C3AR1 719 genome.wustl.edu 37 12 8212792 8212792 + Splice_Site SNP C C A rs11567804 byFrequency TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004054.2 -1 validated e1-1 0.011 28 0% 30 46.7% 0 - - - - - FAM90A1 55138 genome.wustl.edu 37 12 8376722 8376722 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018088.3 -1 validated p.P71 0.000 133 0% 195 35.9% 0 - - - - NULL A2ML1 144568 genome.wustl.edu 37 12 9020500 9020500 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_144670.3 +1 validated p.E1260 0.035 179 0% 239 42.7% 9 55.5% - - - NULL PZP 5858 genome.wustl.edu 37 12 9355190 9355190 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002864.2 -1 validated p.L120M 0.002 170 0% 238 44.5% 11 45.4% benign(0.146) tolerated(0.17) neutral(0.071) HMMPfam_A2M_N CLEC1A 51267 genome.wustl.edu 37 12 10224049 10224049 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016511.2 -1 reviewed p.G242 0.386 218 0% 315 40.6% 1 0% - - - HMMPfam_Lectin_C,HMMSmart_CLECT,superfamily_C-type_lectin_fold TAS2R7 50837 genome.wustl.edu 37 12 10954810 10954810 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_023919.2 -1 reviewed p.L120 0.998 198 0% 218 36.2% 0 - - - - HMMPfam_TAS2R,superfamily_SSF81321 TAS2R50 259296 genome.wustl.edu 37 12 11139236 11139236 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_176890.2 -1 validated p.F75C 0.002 105 0% 120 53.3% 0 - possibly_damaging(0.492) deleterious(0.01) deleterious(0.570) HMMPfam_TAS2R,superfamily_Family A G protein-coupled receptor-like TAS2R19 259294 genome.wustl.edu 37 12 11174800 11174800 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_176888.1 -1 provisional p.R124I 0.052 214 0% 287 15% 0 - probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_TAS2R,superfamily_SSF81321 PRB3 5544 genome.wustl.edu 37 12 11421588 11421588 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000279573 -1 known p.E27* 0.006 364 0% 458 42.6% 1 0% - - - NULL PRB1 5542 genome.wustl.edu 37 12 11506213 11506213 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_199353.2 -1 reviewed p.R142Q 0.084 812 0% 1087 31.7% 0 - unknown(0) tolerated(0.37) - NULL MANSC1 54682 genome.wustl.edu 37 12 12496052 12496052 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018050.2 -1 validated p.S66Y 0.001 350 0% 472 43.6% 22 45.4% probably_damaging(0.979) deleterious(0.01) deleterious(0.828) HMMPfam_MANEC,HMMSmart_MANEC CDKN1B 1027 genome.wustl.edu 37 12 12871797 12871797 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004064.3 +1 reviewed p.E172* 1.000 152 0.7% 170 45.9% 7 14.2% - - - NULL GRIN2B 2904 genome.wustl.edu 37 12 13720128 13720128 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000834.3 -1 reviewed p.S810I 1.000 157 0% 206 49% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Lig_chan GRIN2B 2904 genome.wustl.edu 37 12 13768491 13768491 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000834.3 -1 reviewed p.Y479C 1.000 252 0% 309 41.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_PBPe,HMMPfam_Lig_chan-Glu_bd,superfamily_SSF53850 ATF7IP 55729 genome.wustl.edu 37 12 14578392 14578392 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018179.3 +1 validated p.E515* 0.578 39 0% 66 42.4% 9 0% - - - NULL GUCY2C 2984 genome.wustl.edu 37 12 14766187 14766187 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004963.3 -1 validated p.M1029T 1.000 349 0.3% 450 13.3% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL C12orf69 440087 genome.wustl.edu 37 12 14959262 14959262 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001013698.2 -1 validated p.S118L 0.984 192 0% 266 45.1% 0 - possibly_damaging(0.621) deleterious(0) deleterious(0.661) NULL C12orf69 440087 genome.wustl.edu 37 12 14959516 14959516 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001013698.2 -1 validated p.F33 0.846 129 0% 164 50.6% 0 - - - - NULL EPS8 2059 genome.wustl.edu 37 12 15774264 15774264 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004447.5 -1 reviewed p.G819E 1.000 282 0% 346 37.9% 5 60% possibly_damaging(0.767) deleterious(0.01) deleterious(0.690) NULL EPS8 2059 genome.wustl.edu 37 12 15774333 15774333 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004447.5 -1 reviewed p.I796S 1.000 205 0.5% 192 42.7% 1 0% possibly_damaging(0.821) deleterious(0) deleterious(0.755) NULL STRAP 11171 genome.wustl.edu 37 12 16036510 16036510 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_007178.3 +1 validated p.D50Y 1.000 208 0% 253 26.1% 56 23.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 SLC15A5 729025 genome.wustl.edu 37 12 16425679 16425679 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000344941 -1 known p.D134Y 1.000 188 0% 218 50% 0 - probably_damaging(1) tolerated(0.06) deleterious(0.823) HMMPfam_PTR2 SLC15A5 729025 genome.wustl.edu 37 12 16430534 16430534 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000344941 -1 known p.G29D 0.000 167 0% 236 50% 0 - possibly_damaging(0.722) deleterious(0) deleterious(0.707) NULL PIK3C2G 5288 genome.wustl.edu 37 12 18650568 18650568 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004570.4 +1 reviewed p.R927C 1.000 233 0% 341 43.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,superfamily_Protein kinase-like (PK-like),PatternScan_PI3_4_KINASE_1 ENSG00000248116 0 genome.wustl.edu 37 12 19460462 19460462 + RNA SNP C C T rs188679281 by1000genomes TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000510738 +1 novel NULL 1.000 69 1.4% 81 44.4% 3 33.3% - - - - PDE3A 5139 genome.wustl.edu 37 12 20799459 20799459 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000921.3 +1 validated p.A763T 1.000 232 0% 332 40.4% 3 33.3% possibly_damaging(0.842) tolerated(0.23) neutral(0.363) HMMPfam_PDEase_I,HMMSmart_HDc,superfamily_SSF109604 PDE3A 5139 genome.wustl.edu 37 12 20799803 20799803 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000921.3 +1 validated p.A828 0.040 150 0% 229 10.5% 7 0% - - - HMMPfam_PDEase_I,HMMSmart_HDc,superfamily_SSF109604 PDE3A 5139 genome.wustl.edu 37 12 20832992 20832992 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000921.3 +1 validated p.I1071 1.000 89 0% 90 17.8% 1 0% - - - superfamily_SSF109604 LST-3TM12 338821 genome.wustl.edu 37 12 21172281 21172281 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001009562.4 +1 validated p.I62S 0.993 604 0% 679 45.1% 0 - possibly_damaging(0.494) deleterious(0) deleterious(0.609) HMMPfam_OATP,superfamily_MFS general substrate transporter LST-3TM12 338821 genome.wustl.edu 37 12 21200080 21200080 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001009562.4 +1 validated p.S308Y 0.000 393 0% 520 44% 0 - benign(0.003) tolerated(0.9) - HMMPfam_OATP,superfamily_MFS general substrate transporter SLCO1B1 10599 genome.wustl.edu 37 12 21331645 21331645 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006446.4 +1 reviewed p.S206Y 0.996 182 0% 229 55.9% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_OATP,superfamily_MFS general substrate transporter SLCO1B1 10599 genome.wustl.edu 37 12 21391991 21391991 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006446.4 +1 reviewed p.K648N 0.998 132 0% 145 42.1% 0 - benign(0.018) deleterious(0.02) neutral(0.384) superfamily_MFS general substrate transporter SLCO1A2 6579 genome.wustl.edu 37 12 21446942 21446942 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_021094.3 -1 reviewed p.G458 0.739 200 0% 279 39.1% 7 57.1% - - - HMMPfam_OATP,HMMPfam_Kazal_2,superfamily_MFS general substrate transporter,superfamily_Kazal-type serine protease inhibitors PYROXD1 79912 genome.wustl.edu 37 12 21614992 21614992 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024854.3 +1 validated p.D311N 1.000 268 0% 292 13.7% 12 16.6% possibly_damaging(0.509) tolerated(0.08) deleterious(0.471) HMMPfam_Pyr_redox_2,superfamily_SSF51905 RECQL 5965 genome.wustl.edu 37 12 21623143 21623143 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002907.3 -1 reviewed p.K645N 0.935 293 0% 344 35.8% 7 42.8% possibly_damaging(0.659) deleterious(0.04) deleterious(0.582) NULL GOLT1B 51026 genome.wustl.edu 37 12 21659843 21659843 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016072.4 +1 validated p.F17S 1.000 524 0.4% 560 16.4% 4 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL ABCC9 10060 genome.wustl.edu 37 12 22059199 22059199 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005691.2 -1 reviewed p.K493N 1.000 322 0% 399 41.9% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain ABCC9 10060 genome.wustl.edu 37 12 22068742 22068742 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005691.2 -1 reviewed p.A226S 1.000 243 0% 311 44.4% 1 0% benign(0.002) deleterious(0.04) neutral(0.349) NULL ABCC9 10060 genome.wustl.edu 37 12 22068772 22068772 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005691.2 -1 reviewed p.L216I 1.000 204 0% 244 44.3% 1 0% possibly_damaging(0.484) deleterious(0.03) deleterious(0.525) NULL ABCC9 10060 genome.wustl.edu 37 12 22086765 22086765 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005691.2 -1 reviewed p.L79F 0.999 286 0% 338 41.4% 2 0% probably_damaging(1) tolerated(0.12) deleterious(0.760) NULL KIAA0528 9847 genome.wustl.edu 37 12 22635491 22635491 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014802.1 -1 predicted p.A579 0.997 187 0% 275 42.9% 12 50% - - - NULL KIAA0528 9847 genome.wustl.edu 37 12 22659684 22659684 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014802.1 -1 predicted p.A370T 1.000 128 0% 160 50.6% 11 36.3% possibly_damaging(0.843) tolerated(0.11) deleterious(0.595) NULL ETNK1 55500 genome.wustl.edu 37 12 22796805 22796805 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018638.4 +1 reviewed p.D178N 1.000 172 0% 250 17.2% 25 24% probably_damaging(0.982) deleterious(0.01) deleterious(0.832) HMMPfam_Choline_kinase,superfamily_Kinase_like ETNK1 55500 genome.wustl.edu 37 12 22837877 22837877 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018638.4 +1 reviewed p.V450M 0.984 318 0% 404 17.3% 2 50% benign(0) tolerated(0.5) neutral(0.010) NULL BCAT1 586 genome.wustl.edu 37 12 25031487 25031487 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005504.6 -1 reviewed p.R163C 1.000 192 0% 198 46% 3 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Aminotran_4,superfamily_Aminotrans_IV BCAT1 586 genome.wustl.edu 37 12 25101865 25101865 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005504.6 -1 reviewed p.M1T 0.974 43 0% 76 30.3% 0 - benign(0.001) deleterious(0.01) neutral(0.406) NULL LRMP 4033 genome.wustl.edu 37 12 25259876 25259876 + Splice_Site SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006152.2 +1 reviewed e16-1 1.000 150 0% 171 41.5% 0 - - - - - CASC1 55259 genome.wustl.edu 37 12 25274828 25274828 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018272.3 -1 validated p.E366D 0.894 163 0% 186 35.5% 2 0% possibly_damaging(0.923) tolerated(0.11) deleterious(0.644) NULL CASC1 55259 genome.wustl.edu 37 12 25297469 25297469 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018272.3 -1 validated p.E278* 0.006 391 0.3% 494 42.5% 1 0% - - - NULL IFLTD1 160492 genome.wustl.edu 37 12 25679786 25679786 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001145728.1 -1 validated p.L199F 0.944 229 0% 308 42.2% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_IF_tail,superfamily_Lamin A/C globular tail domain ITPR2 3709 genome.wustl.edu 37 12 26755599 26755599 + Missense_Mutation SNP T T A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002223.2 -1 validated p.K1168I 1.000 421 0% 441 42% 2 100% benign(0.034) tolerated(0.11) neutral(0.274) NULL TM7SF3 51768 genome.wustl.edu 37 12 27133580 27133580 + Splice_Site SNP C C A rs1184529 TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016551.2 -1 validated e8-1 1.000 158 0% 175 49.7% 0 - - - - - ARNTL2 56938 genome.wustl.edu 37 12 27533181 27533181 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020183.3 +1 provisional p.E110* 1.000 88 0% 106 49.1% 0 - - - - HMMPfam_HLH,superfamily_HLH helix-loop-helix DNA-binding domain PPFIBP1 8496 genome.wustl.edu 37 12 27809632 27809632 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003622.2 +1 reviewed p.M260I 1.000 187 0% 268 44.8% 0 - benign(0.001) tolerated(0.45) neutral(0.012) NULL OVCH1 341350 genome.wustl.edu 37 12 29640678 29640678 + Silent SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_183378.2 -1 validated p.I280 0.984 133 0% 200 41.5% 0 - - - - HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases IPO8 10526 genome.wustl.edu 37 12 30790048 30790048 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006390.2 -1 reviewed p.D855Y 0.993 166 0% 246 45.5% 27 62.9% possibly_damaging(0.652) deleterious(0.03) deleterious(0.594) superfamily_ARM-type_fold CAPRIN2 65981 genome.wustl.edu 37 12 30864509 30864509 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001002259.1 -1 validated p.N936H 1.000 307 0% 437 44.4% 14 78.5% benign(0) - - NULL CAPRIN2 65981 genome.wustl.edu 37 12 30869579 30869579 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001002259.1 -1 validated p.R776Q 0.987 573 0% 724 43.1% 6 50% probably_damaging(0.999) tolerated(0.37) deleterious(0.509) NULL CAPRIN2 65981 genome.wustl.edu 37 12 30881584 30881584 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001002259.1 -1 validated p.D594Y 1.000 253 0% 305 18.7% 5 0% probably_damaging(0.998) deleterious(0.02) deleterious(0.857) NULL CAPRIN2 65981 genome.wustl.edu 37 12 30881758 30881758 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001002259.1 -1 validated p.E536* 0.748 290 0% 427 10.5% 3 0% - - - NULL AMN1 196394 genome.wustl.edu 37 12 31825168 31825168 + RNA SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NR_004854.1 -1 validated NULL 0.000 182 0% 223 47.5% 7 57.1% - - - - C12orf35 55196 genome.wustl.edu 37 12 32137706 32137706 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018169.3 +1 validated p.E1273* 0.048 83 0% 64 34.4% 4 25% - - - NULL C12orf35 55196 genome.wustl.edu 37 12 32138188 32138188 + Silent SNP G G A rs184270661 by1000genomes TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018169.3 +1 validated p.T1433 0.000 64 0% 106 47.2% 6 50% - - - NULL KIF21A 55605 genome.wustl.edu 37 12 39750650 39750650 + Nonsense_Mutation SNP C C A rs143300316 TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017641.3 -1 validated p.E485* 1.000 265 0% 290 41.4% 2 0% - - - NULL SLC2A13 114134 genome.wustl.edu 37 12 40223992 40223992 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_052885.3 -1 validated p.F453C 1.000 216 0% 283 42.8% 2 0% possibly_damaging(0.947) deleterious(0) deleterious(0.835) HMMPfam_Sugar_tr,superfamily_MFS general substrate transporter LRRK2 120892 genome.wustl.edu 37 12 40637447 40637447 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_198578.3 +1 reviewed p.E268* 1.000 284 0% 384 39.6% 0 - - - - superfamily_ARM-type_fold LRRK2 120892 genome.wustl.edu 37 12 40753150 40753150 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_198578.3 +1 reviewed p.E2311G 1.000 236 0% 332 45.5% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_WD40_like CNTN1 1272 genome.wustl.edu 37 12 41323765 41323765 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001843.2 +1 reviewed p.V222M 1.000 159 0% 246 45.9% 10 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin ADAMTS20 80070 genome.wustl.edu 37 12 43925997 43925997 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_025003.3 -1 validated p.T152M 1.000 243 0% 297 42.4% 0 - benign(0.004) tolerated(0.69) neutral(0.002) HMMPfam_Pep_M12B_propep PUS7L 83448 genome.wustl.edu 37 12 44148406 44148406 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001098614.1 -1 validated p.A215T 1.000 180 0% 196 44.9% 0 - possibly_damaging(0.568) tolerated(0.18) neutral(0.251) superfamily_PsdUridine_synth_cat_dom TMEM117 84216 genome.wustl.edu 37 12 44693485 44693485 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032256.1 +1 provisional p.S244Y 1.000 501 0% 647 42.8% 3 66.6% probably_damaging(0.981) deleterious(0) deleterious(0.870) NULL NELL2 4753 genome.wustl.edu 37 12 45170903 45170903 + Silent SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001145107.1 -1 reviewed p.C278 0.999 355 0% 476 42.6% 0 - - - - superfamily_ConA_like_lec_gl SLC38A4 55089 genome.wustl.edu 37 12 47172514 47172514 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001143824.1 -1 validated p.D255N 0.911 109 0% 142 40.1% 0 - benign(0) tolerated(0.62) neutral(0.004) HMMPfam_Aa_trans VDR 7421 genome.wustl.edu 37 12 48238555 48238555 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000376.2 -1 reviewed p.E420K 1.000 62 0% 67 38.8% 17 41.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Hormone_recep,superfamily_Nuclear receptor ligand-binding domain VDR 7421 genome.wustl.edu 37 12 48251023 48251023 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000376.2 -1 reviewed p.R158C 0.387 151 0% 200 53% 7 42.8% probably_damaging(0.996) deleterious(0.02) deleterious(0.845) superfamily_Nuclear receptor ligand-binding domain COL2A1 1280 genome.wustl.edu 37 12 48370697 48370697 + Silent SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001844.4 -1 reviewed p.P1111 0.997 27 0% 32 46.9% 0 - - - - HMMPfam_Collagen COL2A1 1280 genome.wustl.edu 37 12 48376689 48376689 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001844.4 -1 reviewed p.A712V 1.000 33 0% 24 66.7% 0 - unknown(0) tolerated(0.17) - HMMPfam_Collagen COL2A1 1280 genome.wustl.edu 37 12 48393799 48393799 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001844.4 -1 reviewed p.D65 1.000 89 0% 127 37% 0 - - - - HMMPfam_VWC,HMMSmart_SM00214,PatternScan_VWFC_1 CCDC65 85478 genome.wustl.edu 37 12 49298132 49298132 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_033124.4 +1 validated p.E5* 1.000 66 0% 65 32.3% 0 - - - - NULL DDN 23109 genome.wustl.edu 37 12 49391782 49391782 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015086.1 -1 validated p.L293F 1.000 24 0% 20 65% 0 - possibly_damaging(0.896) deleterious(0) deleterious(0.798) NULL MLL2 8085 genome.wustl.edu 37 12 49420433 49420433 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003482.3 -1 validated p.R5106C 1.000 36 0% 39 51.3% 101 40.5% unknown(0) - - HMMSmart_SM00184,HMMSmart_SM00249,superfamily_FYVE/PHD zinc finger MLL2 8085 genome.wustl.edu 37 12 49421878 49421878 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003482.3 -1 validated p.K4810T 1.000 93 0% 125 56% 20 70% unknown(0) - - NULL MLL2 8085 genome.wustl.edu 37 12 49438613 49438613 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003482.3 -1 validated p.L1626W 1.000 99 0% 145 47.6% 20 55% unknown(0) - - NULL TUBA1A 7846 genome.wustl.edu 37 12 49579170 49579170 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006009.2 -1 reviewed p.D327Y 1.000 107 0% 127 37% 2222 18.2% probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_Tubulin C-terminal domain-like,HMMPfam_Tubulin_C SPATS2 65244 genome.wustl.edu 37 12 49878437 49878437 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_023071.3 +1 validated p.E30D 1.000 356 0% 397 42.1% 20 40% probably_damaging(0.971) tolerated(0.15) deleterious(0.654) NULL FMNL3 91010 genome.wustl.edu 37 12 50100889 50100889 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_175736.4 -1 validated p.K25N 1.000 18 0% 35 20% 0 - probably_damaging(0.995) deleterious(0.01) deleterious(0.863) NULL RACGAP1 29127 genome.wustl.edu 37 12 50387962 50387962 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001126103.1 -1 validated p.E431* 1.000 205 0% 247 47.4% 11 9% - - - HMMPfam_RhoGAP,HMMSmart_RhoGAP,superfamily_Rho_GAP RACGAP1 29127 genome.wustl.edu 37 12 50392941 50392941 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001126103.1 -1 validated p.D288Y 1.000 155 0% 212 33% 22 72.7% benign(0.045) tolerated(0.27) neutral(0.036) HMMPfam_C1_1,HMMSmart_C1,PatternScan_ZF_DAG_PE_1,superfamily_SSF57889 ASIC1 41 genome.wustl.edu 37 12 50453598 50453598 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020039.2 +1 reviewed p.D140G 1.000 152 0% 194 40.2% 4 75% benign(0.007) tolerated(0.28) neutral(0.032) HMMPfam_ASC FAM186A 121006 genome.wustl.edu 37 12 50725459 50725459 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001145475.1 -1 provisional p.K2281R 0.044 295 0% 328 41.8% 0 - benign(0.019) tolerated(0.72) neutral(0.003) NULL FAM186A 121006 genome.wustl.edu 37 12 50744583 50744583 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001145475.1 -1 provisional p.S2011* 0.006 365 0% 419 41.1% 0 - - - - NULL FAM186A 121006 genome.wustl.edu 37 12 50749610 50749610 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001145475.1 -1 provisional p.I335M 0.000 327 0% 392 47.2% 0 - possibly_damaging(0.678) tolerated(0.1) deleterious(0.528) NULL DIP2B 57609 genome.wustl.edu 37 12 51121544 51121544 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_173602.2 +1 validated p.L1153F 1.000 278 0% 299 46.8% 32 46.8% possibly_damaging(0.761) deleterious(0.02) deleterious(0.665) HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like DIP2B 57609 genome.wustl.edu 37 12 51128896 51128896 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_173602.2 +1 validated p.L1362I 1.000 409 0% 425 40.9% 7 57.1% possibly_damaging(0.731) tolerated(0.18) neutral(0.323) HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like TMPRSS12 283471 genome.wustl.edu 37 12 51279081 51279081 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_182559.2 +1 validated p.E235D 0.000 360 0% 431 44.1% 0 - benign(0.004) tolerated(0.72) neutral(0.002) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases TFCP2 7024 genome.wustl.edu 37 12 51493442 51493442 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005653.4 -1 reviewed p.F424L 1.000 376 0% 494 39.5% 37 40.5% benign(0) tolerated(0.67) neutral(0.003) NULL BIN2 51411 genome.wustl.edu 37 12 51696885 51696885 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016293.2 -1 validated p.L68R 1.000 216 0% 319 21.6% 0 - probably_damaging(0.98) deleterious(0.04) deleterious(0.773) HMMPfam_BAR,HMMSmart_SM00721 SCN8A 6334 genome.wustl.edu 37 12 52080198 52080198 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014191.2 +1 reviewed p.F148V 1.000 707 0% 827 43.5% 0 - benign(0.386) deleterious(0.02) deleterious(0.506) superfamily_Voltage-gated potassium channels SCN8A 6334 genome.wustl.edu 37 12 52099358 52099358 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014191.2 +1 reviewed p.E431A 1.000 323 0% 415 41.2% 0 - probably_damaging(0.998) tolerated(0.23) deleterious(0.516) NULL ACVRL1 94 genome.wustl.edu 37 12 52307091 52307091 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000020.2 +1 reviewed p.C90 0.535 9 0.000 14 0.357 12 0% - - - HMMPfam_Activin_recp,superfamily_SSF57302 NR4A1 3164 genome.wustl.edu 37 12 52448586 52448586 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002135.3 +1 reviewed p.F158 0.134 25 0% 26 53.8% 11 45.4% - - - NULL KRT80 144501 genome.wustl.edu 37 12 52579169 52579169 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_182507.2 -1 reviewed p.R168Q 0.995 67 0% 77 32.5% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Filament KRT83 3889 genome.wustl.edu 37 12 52713086 52713086 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002282.3 -1 reviewed p.R149 0.977 143 0% 180 43.3% 0 - - - - HMMPfam_Filament KRT75 9119 genome.wustl.edu 37 12 52822462 52822462 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004693.2 -1 reviewed p.I367 0.446 316 0% 395 37.2% 1 0% - - - superfamily_Prefoldin,HMMPfam_Filament KRT6C 286887 genome.wustl.edu 37 12 52863649 52863649 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_173086.4 -1 reviewed p.A410D 1.000 149 0.7% 200 12.5% 12 0% probably_damaging(0.993) deleterious(0) deleterious(0.895) HMMPfam_Filament KRT6A 3853 genome.wustl.edu 37 12 52882216 52882216 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005554.3 -1 reviewed p.D440 1.000 150 0% 242 14.9% 949 0.3% - - - HMMPfam_Filament KRT5 3852 genome.wustl.edu 37 12 52908953 52908953 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000424.3 -1 reviewed p.L516I 0.000 30 0% 36 27.8% 862 4.7% unknown(0) tolerated(0.36) - NULL KRT71 112802 genome.wustl.edu 37 12 52942506 52942506 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_033448.2 -1 reviewed p.F264L 1.000 151 0% 174 40.8% 1 0% benign(0.006) deleterious(0.04) neutral(0.349) HMMPfam_Filament KRT72 140807 genome.wustl.edu 37 12 52992747 52992747 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_080747.2 -1 reviewed p.G192 0.520 286 0% 388 17.3% 0 - - - - HMMPfam_Filament KRT2 3849 genome.wustl.edu 37 12 53043707 53043707 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000423.2 -1 reviewed p.T284 0.004 402 0% 547 42.4% 0 - - - - HMMPfam_Filament KRT3 3850 genome.wustl.edu 37 12 53189183 53189183 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_057088.2 -1 reviewed p.K215R 1.000 168 0% 219 32.9% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_Filament KRT4 3851 genome.wustl.edu 37 12 53201588 53201588 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002272.2 -1 reviewed p.D470Y 1.000 100 0% 160 18.8% 5 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Filament KRT4 3851 genome.wustl.edu 37 12 53207919 53207919 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002272.2 -1 reviewed p.R49Q 0.008 38 0% 34 50% 0 - benign(0.004) - - NULL KRT8 3856 genome.wustl.edu 37 12 53291404 53291404 + Splice_Site SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002273.3 -1 reviewed e8-2 0.999 22 0% 22 31.8% 45 100% - - - - SOAT2 8435 genome.wustl.edu 37 12 53512198 53512198 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003578.3 +1 reviewed p.I281 1.000 428 0% 594 42.4% 0 - - - - HMMPfam_MBOAT AAAS 8086 genome.wustl.edu 37 12 53708157 53708157 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015665.5 -1 reviewed p.S205N 1.000 94 0% 148 41.2% 59 42.3% possibly_damaging(0.929) tolerated(0.17) neutral(0.435) HMMSmart_WD40,superfamily_WD40_like SP1 6667 genome.wustl.edu 37 12 53777308 53777308 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_138473.2 +1 validated p.M526T 1.000 100 0% 131 48.1% 80 42.5% benign(0.016) deleterious(0.05) neutral(0.346) NULL HOXC10 3226 genome.wustl.edu 37 12 54379476 54379476 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017409.3 +1 reviewed p.V145M 1.000 21 0% 28 39.3% 25 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL HOXC6 3223 genome.wustl.edu 37 12 54422654 54422654 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004503.3 +1 reviewed p.K117Q 1.000 103 0% 96 31.2% 5 100% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL HOXC4 3221 genome.wustl.edu 37 12 54447756 54447756 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014620.4 +1 reviewed p.F17S 1.000 74 0% 87 36.8% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL NCKAP1L 3071 genome.wustl.edu 37 12 54911615 54911615 + Silent SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005337.4 +1 reviewed p.L411 1.000 309 0% 398 45.2% 3 0% - - - HMMPfam_Nckap1 LACRT 90070 genome.wustl.edu 37 12 55026146 55026146 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_033277.1 -1 reviewed p.I44 0.000 306 0% 373 42.9% 0 - - - - NULL DCD 117159 genome.wustl.edu 37 12 55038981 55038981 + Missense_Mutation SNP C C T rs190416576 by1000genomes TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_053283.2 -1 reviewed p.E89K 0.000 473 0% 473 48% 0 - unknown(0) deleterious(0) - NULL MUCL1 118430 genome.wustl.edu 37 12 55248940 55248940 + Silent SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_058173.2 +1 validated p.A33 0.016 213 0% 251 42.6% 3 66.6% - - - NULL NEUROD4 58158 genome.wustl.edu 37 12 55420904 55420904 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_021191.2 +1 validated p.Q227H 0.943 176 0% 203 41.9% 0 - benign(0.004) tolerated(1) - NULL OR10A7 121364 genome.wustl.edu 37 12 55614851 55614851 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001005280.1 +1 provisional p.L15I 0.993 390 0% 507 45.8% 0 - benign(0.001) deleterious(0.04) neutral(0.349) superfamily_SSF81321 OR10P1 121130 genome.wustl.edu 37 12 56030718 56030718 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_206899.1 +1 provisional p.L15M 0.001 93 0% 101 38.6% 0 - probably_damaging(0.992) tolerated(0.13) deleterious(0.700) superfamily_SSF81321 OR10P1 121130 genome.wustl.edu 37 12 56030801 56030801 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_206899.1 +1 provisional p.N42 0.003 142 0% 158 27.2% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 CDK2 1017 genome.wustl.edu 37 12 56360893 56360893 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001798.3 +1 reviewed p.K34T 1.000 286 0% 369 40.7% 17 70.5% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase RAB5B 5869 genome.wustl.edu 37 12 56385929 56385929 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002868.2 +1 validated p.G194D 1.000 132 0% 157 48.4% 88 45.4% - - - HMMSmart_SM00176,superfamily_P-loop containing nucleoside triphosphate hydrolases ESYT1 23344 genome.wustl.edu 37 12 56525064 56525064 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015292.2 +1 validated p.K226N 1.000 399 0% 528 43.6% 61 44.2% probably_damaging(1) tolerated(0.1) deleterious(0.786) NULL OBFC2B 79035 genome.wustl.edu 37 12 56620148 56620148 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024068.3 +1 validated p.N127 0.618 184 0% 224 44.2% 49 40.8% - - - NULL SLC39A5 283375 genome.wustl.edu 37 12 56628638 56628638 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001135195.1 +1 validated p.F168V 1.000 33 0% 33 42.4% 1 0% probably_damaging(0.978) tolerated(0.45) neutral(0.432) NULL ANKRD52 283373 genome.wustl.edu 37 12 56638929 56638929 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_173595.3 -1 validated p.S817L 1.000 80 0% 96 38.5% 33 45.4% benign(0) tolerated(0.26) neutral(0.034) HMMSmart_ANK,superfamily_ANK COQ10A 93058 genome.wustl.edu 37 12 56664023 56664023 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_144576.3 +1 validated p.E222D 1.000 187 0% 241 12% 5 0% benign(0.205) tolerated(0.24) neutral(0.057) HMMPfam_Polyketide_cyc STAT2 6773 genome.wustl.edu 37 12 56744888 56744888 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005419.3 -1 reviewed p.R343Q 0.774 242 0.4% 273 50.9% 40 40% benign(0.007) deleterious(0.02) neutral(0.383) superfamily_p53-like transcription factors,HMMPfam_STAT_bind SPRYD4 283377 genome.wustl.edu 37 12 56862935 56862935 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_207344.3 +1 validated p.L66F 1.000 42 0% 54 11.1% 7 0% probably_damaging(0.964) tolerated(0.17) neutral(0.465) NULL GLS2 27165 genome.wustl.edu 37 12 56867014 56867014 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_013267.2 -1 reviewed p.R483W 1.000 212 0% 251 41.8% 3 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Ankyrin repeat NACA 4666 genome.wustl.edu 37 12 57107325 57107325 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001113203.1 -1 validated p.A1989V 1.000 184 0% 220 42.3% 593 48% possibly_damaging(0.91) tolerated(0.12) deleterious(0.623) HMMPfam_NAC NACA 4666 genome.wustl.edu 37 12 57114044 57114044 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001113203.1 -1 validated p.H424N 0.007 273 0% 254 40.9% 0 - unknown(0) deleterious(0) - NULL TMEM194A 23306 genome.wustl.edu 37 12 57464566 57464566 + Silent SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001130963.1 -1 validated p.K121 0.989 182 0% 258 47.7% 0 - - - - NULL LRP1 4035 genome.wustl.edu 37 12 57598989 57598989 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002332.2 +1 reviewed p.F3764 0.765 60 0% 96 34.4% 177 26.5% - - - HMMPfam_Ldl_recept_a,HMMSmart_SM00192,PatternScan_LDLRA_1,superfamily_LDL receptor-like module,HMMSmart_SM00181 STAC3 246329 genome.wustl.edu 37 12 57638000 57638000 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_145064.1 -1 provisional p.I289 0.715 143 0% 181 11.6% 2 50% unknown(0) - - HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain STAC3 246329 genome.wustl.edu 37 12 57642824 57642824 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_145064.1 -1 provisional p.L112F 1.000 240 0% 312 42.6% 4 100% probably_damaging(0.999) tolerated(0.07) deleterious(0.809) HMMPfam_C1_1,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,superfamily_Cysteine-rich domain GLI1 2735 genome.wustl.edu 37 12 57859650 57859650 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005269.2 +1 reviewed p.T235I 1.000 63 0% 77 44.2% 4 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,superfamily_SSF57667 GLI1 2735 genome.wustl.edu 37 12 57865531 57865531 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005269.2 +1 reviewed p.K1003T 0.981 70 0% 101 43.6% 5 0% probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL MARS 4141 genome.wustl.edu 37 12 57908816 57908816 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004990.2 +1 reviewed p.R727W 0.970 158 0% 193 47.2% 207 45.8% possibly_damaging(0.526) deleterious(0.02) deleterious(0.560) superfamily_tRNAsyn_1a_bind DDIT3 1649 genome.wustl.edu 37 12 57910667 57910667 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004083.4 -1 validated p.I145 0.972 208 0% 275 43.6% 36 47.2% - - - HMMSmart_SM00338,HMMPfam_bZIP_2 MBD6 114785 genome.wustl.edu 37 12 57922480 57922480 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_052897.3 +1 validated p.R951H 1.000 352 0.3% 417 20.1% 36 11.1% probably_damaging(0.995) - - NULL KIF5A 3798 genome.wustl.edu 37 12 57971496 57971496 + Silent SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004984.2 +1 reviewed p.T767 1.000 271 0% 305 47.9% 0 - - - - superfamily_Prefoldin KIF5A 3798 genome.wustl.edu 37 12 57975344 57975344 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004984.2 +1 reviewed p.D968Y 0.978 89 0% 152 44.7% 1 0% possibly_damaging(0.934) deleterious(0.02) deleterious(0.763) NULL B4GALNT1 2583 genome.wustl.edu 37 12 58024268 58024268 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001478.3 -1 reviewed p.V175A 0.867 195 0% 223 13.5% 0 - benign(0.059) tolerated(0.26) neutral(0.038) NULL LOC100130776 100130776 genome.wustl.edu 37 12 58121970 58121970 + RNA SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NR_027032.1 +1 validated NULL 0.273 22 0% 24 54.2% 2 0% - - - - AGAP2 116986 genome.wustl.edu 37 12 58123472 58123472 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001122772.1 -1 validated p.K836T 1.000 103 0% 118 50% 3 0% possibly_damaging(0.894) deleterious(0.03) deleterious(0.716) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like CYP27B1 1594 genome.wustl.edu 37 12 58157562 58157562 + Silent SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000785.3 -1 reviewed p.T415 0.931 100 0% 158 47.5% 2 0% - - - HMMPfam_p450,superfamily_Cytochrome P450 SLC16A7 9194 genome.wustl.edu 37 12 60168518 60168518 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004731.3 +1 provisional p.G148* 1.000 137 0% 163 50.9% 0 - - - - HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter FAM19A2 338811 genome.wustl.edu 37 12 62147453 62147453 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_178539.3 -1 reviewed p.D112N 1.000 197 0% 252 43.3% 1 0% probably_damaging(0.992) deleterious(0) deleterious(0.892) NULL AVPR1A 552 genome.wustl.edu 37 12 63543665 63543665 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000706.3 -1 reviewed p.P318S 0.005 28 0% 32 43.8% 2 0% benign(0.003) deleterious(0.02) neutral(0.383) HMMPfam_7tm_1,superfamily_SSF81321 DPY19L2 283417 genome.wustl.edu 37 12 64057572 64057572 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_173812.4 -1 validated p.S139Y 0.978 159 0% 206 35.9% 0 - benign(0.33) deleterious(0.02) deleterious(0.486) HMMPfam_DUF2211 TMEM5 10329 genome.wustl.edu 37 12 64199180 64199180 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014254.1 +1 provisional p.E304* 1.000 161 0% 240 47.1% 23 39.1% - - - NULL HELB 92797 genome.wustl.edu 37 12 66717847 66717847 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_033647.2 +1 reviewed p.E794D 0.001 315 0.3% 380 39.7% 0 - benign(0.001) tolerated(1) - superfamily_P-loop containing nucleoside triphosphate hydrolases HELB 92797 genome.wustl.edu 37 12 66725379 66725379 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_033647.2 +1 reviewed p.R1039I 0.991 92 0% 112 42.9% 2 50% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL CAND1 55832 genome.wustl.edu 37 12 67699746 67699746 + Silent SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018448.3 +1 validated p.G766 0.996 156 0% 198 40.4% 33 42.4% - - - superfamily_ARM repeat MDM1 56890 genome.wustl.edu 37 12 68696441 68696441 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017440.4 -1 reviewed p.R644Q 0.800 249 0% 276 56.9% 4 50% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL SLC35E3 55508 genome.wustl.edu 37 12 69145900 69145900 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018656.2 +1 validated p.V201A 0.012 405 0% 463 44.7% 13 46.1% unknown(0) tolerated(0.73) - HMMPfam_TPT,superfamily_Multidrug resistance efflux transporter EmrE MDM2 4193 genome.wustl.edu 37 12 69222705 69222705 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002392.3 +1 reviewed p.S226 0.724 134 0% 192 40.6% 26 50% - - - superfamily_SWIB/MDM2 domain CCT2 10576 genome.wustl.edu 37 12 69986847 69986847 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006431.2 +1 reviewed p.R281H 1.000 239 0% 317 36.6% 55 45.4% possibly_damaging(0.644) deleterious(0) deleterious(0.670) HMMPfam_Cpn60_TCP1,superfamily_GroEL equatorial domain-like,superfamily_GroEL apical domain-like,superfamily_GroEL-intermediate domain like KCNMB4 27345 genome.wustl.edu 37 12 70794107 70794107 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014505.4 +1 reviewed p.Q152R 1.000 270 0% 344 48% 9 0% benign(0.079) deleterious(0) neutral(0.450) HMMPfam_CaKB TMEM19 55266 genome.wustl.edu 37 12 72091248 72091248 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018279.3 +1 validated p.E191* 1.000 168 0.6% 181 50.3% 2 50% - - - HMMPfam_DUF92 TRHDE 29953 genome.wustl.edu 37 12 72969145 72969145 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_013381.2 +1 reviewed p.D703Y 1.000 289 0% 314 45.9% 0 - possibly_damaging(0.819) deleterious(0.01) deleterious(0.715) NULL TRHDE 29953 genome.wustl.edu 37 12 72969300 72969300 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_013381.2 +1 reviewed p.D722N 1.000 335 0% 396 42.9% 0 - probably_damaging(1) deleterious(0.05) deleterious(0.845) NULL CAPS2 84698 genome.wustl.edu 37 12 75706672 75706672 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032606.3 -1 validated p.K224N 1.000 238 0% 267 43.8% 0 - - - - NULL GLIPR1L1 256710 genome.wustl.edu 37 12 75741428 75741428 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152779.2 +1 provisional p.V149 0.997 414 0% 522 38.9% 0 - - - - HMMSmart_SCP,HMMPfam_SCP,superfamily_SCP-like_extracellular GLIPR1 11010 genome.wustl.edu 37 12 75875824 75875824 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006851.2 +1 reviewed p.R129W 0.000 108 0% 121 38.8% 8 12.5% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMSmart_SCP,HMMPfam_SCP,superfamily_SCP-like_extracellular BBS10 79738 genome.wustl.edu 37 12 76741394 76741394 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024685.3 -1 reviewed p.S124F 1.000 117 0% 130 40.8% 0 - benign(0) tolerated(0.32) neutral(0.024) superfamily_GroEL-ATPase OSBPL8 114882 genome.wustl.edu 37 12 76749785 76749785 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020841.4 -1 reviewed p.R852* 1.000 209 0% 191 47.6% 1 0% - - - NULL E2F7 144455 genome.wustl.edu 37 12 77449744 77449744 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_203394.2 -1 validated p.L87R 1.000 360 0% 421 27.6% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL NAV3 89795 genome.wustl.edu 37 12 78225326 78225326 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014903.4 +1 validated p.L29I 1.000 142 0% 147 15% 0 - benign(0.311) deleterious(0.03) neutral(0.462) superfamily_Calponin-homology domain CH-domain NAV3 89795 genome.wustl.edu 37 12 78513504 78513504 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014903.4 +1 validated p.S1176 0.109 137 0% 157 43.3% 0 - - - - NULL NAV3 89795 genome.wustl.edu 37 12 78604235 78604235 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014903.4 +1 validated p.D2344N 1.000 101 0% 128 44.5% 0 - probably_damaging(0.995) tolerated(0.16) deleterious(0.517) NULL SYT1 6857 genome.wustl.edu 37 12 79747315 79747315 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001135805.1 +1 validated p.R282C 1.000 307 0% 415 50.6% 4 0% probably_damaging(1) tolerated(0.56) deleterious(0.506) superfamily_C2 domain (Calcium/lipid-binding domain CaLB) OTOGL 283310 genome.wustl.edu 37 12 80613659 80613659 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_002343203.1 +1 model p.I42L 1.000 293 0% 347 41.8% 0 - benign(0.002) tolerated(0.8) neutral(0.001) NULL OTOGL 283310 genome.wustl.edu 37 12 80735793 80735793 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000298820 +1 known p.W139* 1.000 151 0% 185 35.1% 0 - probably_damaging(0.971) tolerated(0.38) neutral(0.430) NULL OTOGL 283310 genome.wustl.edu 37 12 80771734 80771734 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_002343203.1 +1 model p.R2220Q 0.999 159 0% 233 38.2% 0 - probably_damaging(0.976) tolerated(1) neutral(0.418) HMMSmart_SM00041 PTPRQ 374462 genome.wustl.edu 37 12 80935366 80935366 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000266688 +1 known p.E1063K 0.534 137 0% 165 44.8% 0 - benign(0.282) tolerated(0.84) neutral(0.087) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III PTPRQ 374462 genome.wustl.edu 37 12 81026019 81026019 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000266688 +1 known p.L1912S 1.000 387 0% 517 43.7% 0 - probably_damaging(1) tolerated(0.26) deleterious(0.534) NULL PTPRQ 374462 genome.wustl.edu 37 12 81067061 81067061 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001145026.1 +1 validated p.E2089* 1.000 323 0% 373 38.3% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL PTPRQ 374462 genome.wustl.edu 37 12 81072411 81072411 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000266688 +1 known p.L2257M 1.000 366 0% 504 44% 0 - probably_damaging(0.977) deleterious(0.01) deleterious(0.825) HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II LIN7A 8825 genome.wustl.edu 37 12 81205450 81205450 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004664.2 -1 validated p.E166* 1.000 189 0% 233 43.3% 0 - - - - HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like PPFIA2 8499 genome.wustl.edu 37 12 81738459 81738459 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003625.2 -1 reviewed p.R749M 1.000 199 0% 321 40.2% 0 - probably_damaging(0.991) deleterious(0.01) deleterious(0.850) NULL LRRIQ1 84125 genome.wustl.edu 37 12 85450149 85450149 + Silent SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001079910.1 +1 validated p.P526 0.000 52 0% 56 53.6% 0 - - - - superfamily_RNI-like LRRIQ1 84125 genome.wustl.edu 37 12 85492159 85492159 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001079910.1 +1 validated p.Q972K 1.000 165 0% 212 10.4% 0 - possibly_damaging(0.792) tolerated(0.92) neutral(0.297) HMMSmart_SM00369,superfamily_RNI-like LRRIQ1 84125 genome.wustl.edu 37 12 85492659 85492659 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001079910.1 +1 validated p.E1032D 0.190 192 0% 301 44.5% 0 - benign(0) tolerated(0.44) neutral(0.013) HMMPfam_LRR_1,superfamily_RNI-like LRRIQ1 84125 genome.wustl.edu 37 12 85517896 85517896 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001079910.1 +1 validated p.K1202N 0.001 88 0% 131 45.8% 0 - probably_damaging(0.998) deleterious(0.03) deleterious(0.839) NULL RASSF9 9182 genome.wustl.edu 37 12 86198722 86198722 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005447.3 -1 reviewed p.E356* 1.000 149 0% 180 44.4% 0 - - - - NULL RASSF9 9182 genome.wustl.edu 37 12 86199124 86199124 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005447.3 -1 reviewed p.R222* 1.000 215 0% 266 43.6% 3 66.6% - - - NULL RASSF9 9182 genome.wustl.edu 37 12 86199710 86199710 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005447.3 -1 reviewed p.E26D 1.000 228 0% 285 43.2% 1 100% probably_damaging(0.964) tolerated(0.13) deleterious(0.659) HMMSmart_SM00314 C12orf50 160419 genome.wustl.edu 37 12 88391831 88391831 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152589.1 -1 predicted p.E90D 0.965 389 0% 480 43.3% 0 - possibly_damaging(0.477) deleterious(0.04) deleterious(0.506) NULL CEP290 80184 genome.wustl.edu 37 12 88465637 88465637 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_025114.3 -1 reviewed p.R1926* 1.000 507 0% 593 36.8% 1 0% - - - NULL CEP290 80184 genome.wustl.edu 37 12 88514815 88514815 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_025114.3 -1 reviewed p.E440* 1.000 470 0% 598 43.6% 0 - - - - NULL TMTC3 160418 genome.wustl.edu 37 12 88586539 88586539 + Missense_Mutation SNP G G A rs142095812 by1000genomes TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_181783.3 +1 reviewed p.R622H 0.184 126 0% 160 24.4% 1 100% benign(0) tolerated(0.11) neutral(0.272) HMMPfam_TPR_1,HMMSmart_TPR,superfamily_Prenyl_trans TMTC3 160418 genome.wustl.edu 37 12 88588832 88588832 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_181783.3 +1 reviewed p.K717 0.997 195 0% 261 42.9% 3 33.3% - - - HMMSmart_TPR,superfamily_Prenyl_trans KITLG 4254 genome.wustl.edu 37 12 88910238 88910238 + Silent SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000899.3 -1 reviewed p.E131 0.080 84 0% 92 32.6% 0 - - - - HMMPfam_SCF,superfamily_4-helical cytokines ATP2B1 490 genome.wustl.edu 37 12 89985069 89985069 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001682.2 -1 reviewed p.R1119* 1.000 106 0% 132 17.4% 10 10% - - - NULL ATP2B1 490 genome.wustl.edu 37 12 90004246 90004246 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001682.2 -1 reviewed p.R763* 1.000 290 0% 350 48% 14 0% - - - HMMPfam_Hydrolase,superfamily_SSF56784,superfamily_SSF81665 KERA 11081 genome.wustl.edu 37 12 91449875 91449875 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_007035.3 -1 reviewed p.G62C 1.000 207 0% 250 50.4% 0 - probably_damaging(0.997) deleterious(0.03) deleterious(0.831) HMMPfam_LRRNT,HMMSmart_LRRNT,superfamily_SSF52058 LUM 4060 genome.wustl.edu 37 12 91502008 91502008 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002345.3 -1 reviewed p.S250Y 0.997 243 0% 324 44.4% 77 2.5% possibly_damaging(0.492) deleterious(0.04) deleterious(0.513) HMMPfam_LRR_1,superfamily_L domain-like LUM 4060 genome.wustl.edu 37 12 91502344 91502344 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002345.3 -1 reviewed p.S138Y 1.000 200 0.5% 252 40.9% 50 2% probably_damaging(0.987) deleterious(0) deleterious(0.881) HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00364,HMMSmart_SM00365,superfamily_L domain-like EEA1 8411 genome.wustl.edu 37 12 93219953 93219953 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003566.3 -1 validated p.R505* 0.999 629 0% 750 43.2% 0 - - - - NULL CCDC41 51134 genome.wustl.edu 37 12 94805517 94805517 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001042399.1 -1 validated p.E94K 0.996 355 0% 438 45.9% 0 - possibly_damaging(0.91) tolerated(0.05) deleterious(0.708) NULL RBMS2P1 643427 genome.wustl.edu 37 12 94817836 94817836 + Missense_Mutation SNP G G C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000393113 -1 known p.N264K 0.995 333 0% 397 40.8% 17 0% - - - NULL NR2C1 7181 genome.wustl.edu 37 12 95451618 95451618 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003297.2 -1 reviewed p.R194Q 1.000 166 0% 207 49.8% 11 54.5% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_Nuclear receptor ligand-binding domain,superfamily_Glucocorticoid receptor-like (DNA-binding domain) FGD6 55785 genome.wustl.edu 37 12 95478413 95478413 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018351.3 -1 validated p.A1373T 1.000 131 0% 193 44% 3 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like FGD6 55785 genome.wustl.edu 37 12 95546703 95546703 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018351.3 -1 validated p.V885M 1.000 431 0% 529 43.3% 3 33.3% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) NTN4 59277 genome.wustl.edu 37 12 96180927 96180927 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_021229.3 -1 validated p.F125L 1.000 149 0% 156 44.9% 24 37.5% probably_damaging(0.984) deleterious(0) deleterious(0.875) HMMPfam_Laminin_N,HMMSmart_SM00136 AMDHD1 144193 genome.wustl.edu 37 12 96354257 96354257 + Silent SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152435.2 +1 validated p.E223 0.639 216 0% 338 47.6% 0 - - - - superfamily_Composite domain of metallo-dependent hydrolases,superfamily_Metallo-dependent hydrolases CDK17 5128 genome.wustl.edu 37 12 96691430 96691430 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002595.3 -1 reviewed p.S262Y 1.000 252 0% 275 38.9% 11 27.2% probably_damaging(0.986) deleterious(0.02) deleterious(0.818) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase CDK17 5128 genome.wustl.edu 37 12 96704846 96704846 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002595.3 -1 reviewed p.S176F 1.000 176 0% 225 44.4% 3 33.3% possibly_damaging(0.882) tolerated(0.17) neutral(0.403) NULL C12orf63 374467 genome.wustl.edu 37 12 97051746 97051746 + Missense_Mutation SNP G G C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_198520.2 +1 validated p.E154D 0.151 164 0% 213 41.3% 0 - unknown(0) deleterious(0) - NULL C12orf63 374467 genome.wustl.edu 37 12 97087506 97087506 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_198520.2 +1 validated p.P516S 1.000 365 0% 398 46.7% 0 - unknown(0) deleterious(0) - NULL NEDD1 121441 genome.wustl.edu 37 12 97339486 97339486 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001135175.1 +1 validated p.S564Y 0.998 144 0% 160 42.5% 6 66.6% probably_damaging(0.991) deleterious(0.01) deleterious(0.850) NULL ENSG00000206899 0 genome.wustl.edu 37 12 98115595 98115595 + RNA SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000384172 +1 known NULL 0.031 21 0% 28 46.4% 1 0% - - - - ENSG00000227825 0 genome.wustl.edu 37 12 98849655 98849655 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000370696 -1 known p.E81D 1.000 130 0% 174 43.1% 0 - - - - HMMPfam_Na_H_Exchanger TMPO 7112 genome.wustl.edu 37 12 98926914 98926914 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003276.2 +1 reviewed p.S293 0.748 68 0% 108 49.1% 5 40% - - - NULL TMPO 7112 genome.wustl.edu 37 12 98928089 98928089 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003276.2 +1 reviewed p.K685T 0.986 113 0% 114 39.5% 9 66.6% possibly_damaging(0.941) deleterious(0) deleterious(0.831) NULL IKBIP 121457 genome.wustl.edu 37 12 99020172 99020172 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_153687.2 -1 provisional p.L224I 0.964 435 0% 514 45.9% 2 0% probably_damaging(0.995) tolerated(0.34) deleterious(0.481) NULL APAF1 317 genome.wustl.edu 37 12 99052986 99052986 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_181861.1 +1 reviewed p.K192T 1.000 323 0.3% 371 43.9% 1 0% possibly_damaging(0.907) tolerated(0.07) deleterious(0.679) HMMPfam_NB-ARC,superfamily_WD40 repeat-like,superfamily_P-loop containing nucleoside triphosphate hydrolases ANKS1B 56899 genome.wustl.edu 37 12 99139600 99139600 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_181670.2 -1 validated p.L484 1.000 109 0% 150 36% 1 100% - - - NULL UHRF1BP1L 23074 genome.wustl.edu 37 12 100452257 100452257 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015054.1 -1 validated p.S933Y 0.978 195 0% 190 38.9% 1 0% probably_damaging(0.961) tolerated(0.08) deleterious(0.704) NULL UHRF1BP1L 23074 genome.wustl.edu 37 12 100453101 100453101 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015054.1 -1 validated p.L652I 1.000 68 0% 73 35.6% 0 - benign(0.157) tolerated(0.43) neutral(0.028) NULL GOLGA2P5 55592 genome.wustl.edu 37 12 100560225 100560225 + RNA SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NR_024261.1 -1 validated NULL 0.514 27 0% 40 40% 13 53.8% - - - - ACTR6 64431 genome.wustl.edu 37 12 100601504 100601504 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_022496.3 +1 validated p.E107* 1.000 160 0.6% 175 39.4% 1 0% - - - HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain SCYL2 55681 genome.wustl.edu 37 12 100685328 100685328 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017988.4 +1 provisional p.Q75H 1.000 106 0% 126 47.6% 1 100% benign(0.364) tolerated(0.08) neutral(0.416) HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) SCYL2 55681 genome.wustl.edu 37 12 100717326 100717326 + Silent SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017988.4 +1 provisional p.P473 0.979 295 0% 350 42% 4 25% - - - superfamily_ARM repeat ANO4 121601 genome.wustl.edu 37 12 101336168 101336168 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_178826.3 +1 validated p.R69I 0.998 147 0% 218 40.8% 0 - benign(0.013) tolerated(0.06) neutral(0.323) NULL ANO4 121601 genome.wustl.edu 37 12 101510550 101510550 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_178826.3 +1 validated p.F813L 1.000 299 0.3% 370 51.9% 2 0% benign(0.35) tolerated(0.76) neutral(0.112) HMMPfam_DUF590 UTP20 27340 genome.wustl.edu 37 12 101713329 101713329 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014503.2 +1 validated p.L915F 1.000 217 0% 216 47.7% 0 - probably_damaging(0.999) deleterious(0.03) deleterious(0.855) superfamily_ARM repeat UTP20 27340 genome.wustl.edu 37 12 101739422 101739422 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014503.2 +1 validated p.H1566N 1.000 167 0% 253 42.7% 4 75% benign(0) tolerated(1) - superfamily_ARM repeat MYBPC1 4604 genome.wustl.edu 37 12 102067366 102067366 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002465.2 +1 validated p.F925 0.000 98 0% 168 47.6% 0 - - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin GNPTAB 79158 genome.wustl.edu 37 12 102147186 102147186 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024312.4 -1 reviewed p.R1189Q 1.000 203 0% 242 41.3% 20 20% probably_damaging(1) tolerated(0.06) deleterious(0.823) NULL CCDC53 51019 genome.wustl.edu 37 12 102439865 102439865 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016053.2 -1 validated p.Q61H 1.000 206 0% 222 36.9% 4 50% probably_damaging(0.98) tolerated(0.06) deleterious(0.746) HMMPfam_DUF2360 PMCH 5367 genome.wustl.edu 37 12 102590479 102590479 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002674.2 -1 validated p.M150T 1.000 94 0% 129 38.8% 5 40% benign(0.176) tolerated(0.06) neutral(0.339) HMMPfam_Pro-MCH STAB2 55576 genome.wustl.edu 37 12 104151988 104151988 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000258495 +1 known p.C994* 0.001 106 0% 139 38.8% 0 - - - - NULL STAB2 55576 genome.wustl.edu 37 12 104156142 104156142 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017564.9 +1 reviewed p.R2484W 1.000 203 0% 238 44.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL HSP90B1 7184 genome.wustl.edu 37 12 104332235 104332235 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003299.1 +1 provisional p.K325Q 1.000 126 0% 209 42.6% 48 70.8% probably_damaging(0.989) deleterious(0.03) deleterious(0.804) superfamily_ATP_bd_ATPase,HMMPfam_HSP90 HSP90B1 7184 genome.wustl.edu 37 12 104336438 104336438 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003299.1 +1 provisional p.R503Q 1.000 182 0% 212 37.3% 634 40% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) superfamily_Ribosomal_S5_D2-typ_fold,HMMPfam_HSP90 NFYB 4801 genome.wustl.edu 37 12 104519998 104519998 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006166.3 -1 reviewed p.H42R 1.000 427 0% 462 44.6% 26 53.8% benign(0.016) tolerated(0.49) neutral(0.011) NULL EID3 493861 genome.wustl.edu 37 12 104698483 104698483 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001008394.1 +1 provisional p.E257D 1.000 135 0% 184 47.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Nse4 TXNRD1 7296 genome.wustl.edu 37 12 104725408 104725408 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000429002 +1 known p.E551* 1.000 200 0% 209 35.4% 18 5.5% - - - HMMPfam_Pyr_redox_dim,superfamily_FAD/NAD-linked reductases dimerisation (C-terminal) domain CHST11 50515 genome.wustl.edu 37 12 104995735 104995735 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018413.5 +1 validated p.R57Q 0.921 131 0% 164 15.9% 2 0% probably_damaging(0.987) deleterious(0) deleterious(0.881) HMMPfam_Sulfotransfer_2 CHST11 50515 genome.wustl.edu 37 12 105150871 105150871 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018413.5 +1 validated p.E117K 1.000 18 0% 24 66.7% 2 50% benign(0.001) tolerated(1) - HMMPfam_Sulfotransfer_2 CHST11 50515 genome.wustl.edu 37 12 105151548 105151548 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018413.5 +1 validated p.N342K 1.000 57 0% 82 43.9% 1 0% probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_Sulfotransfer_2 LOC100130905 100130905 genome.wustl.edu 37 12 106633450 106633450 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_001715433.1 +1 model p.R170W 0.000 37 0% 38 47.4% 67 38.8% - - - NULL TCP11L2 255394 genome.wustl.edu 37 12 106740246 106740246 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152772.1 +1 provisional p.R500* 1.000 163 0% 186 41.9% 6 33.3% - - - HMMPfam_Tcp11 POLR3B 55703 genome.wustl.edu 37 12 106831541 106831541 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018082.5 +1 validated p.E647K 1.000 243 0% 270 43% 5 20% benign(0.019) deleterious(0.03) neutral(0.365) HMMPfam_RNA_pol_Rpb2_5,superfamily_beta and beta-prime subunits of DNA dependent RNA-polymerase RFX4 5992 genome.wustl.edu 37 12 107105244 107105244 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_213594.1 +1 reviewed p.F316L 1.000 253 0% 357 42.6% 0 - probably_damaging(0.971) deleterious(0) deleterious(0.857) NULL RFX4 5992 genome.wustl.edu 37 12 107144450 107144450 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_213594.1 +1 reviewed p.N605S 1.000 117 0% 170 42.4% 0 - probably_damaging(0.993) tolerated(0.22) deleterious(0.492) NULL CRY1 1407 genome.wustl.edu 37 12 107391371 107391371 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004075.3 -1 validated p.G463R 1.000 265 0% 296 42.2% 7 28.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_FAD_binding_7,superfamily_Cryptochrome/photolyase FAD-binding domain PWP1 11137 genome.wustl.edu 37 12 108098436 108098436 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_007062.1 +1 provisional p.R330Q 1.000 404 0% 548 44% 39 33.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_WD40 repeat-like WSCD2 9671 genome.wustl.edu 37 12 108634209 108634209 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014653.2 +1 validated p.F411 1.000 37 0% 57 33.3% 0 - - - - superfamily_P-loop containing nucleoside triphosphate hydrolases CMKLR1 1240 genome.wustl.edu 37 12 108685768 108685768 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001142343.1 -1 validated p.K324N 1.000 153 0% 193 48.7% 3 0% possibly_damaging(0.912) deleterious(0) deleterious(0.808) superfamily_Family A G protein-coupled receptor-like SART3 9733 genome.wustl.edu 37 12 108924048 108924048 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014706.3 -1 reviewed p.E596* 1.000 359 0% 417 40% 6 0% - - - NULL SELPLG 6404 genome.wustl.edu 37 12 109017100 109017100 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003006.3 -1 reviewed p.A318 0.002 62 0% 86 41.9% 4 0% - - - NULL SELPLG 6404 genome.wustl.edu 37 12 109017306 109017306 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003006.3 -1 reviewed p.E250* 0.000 562 0% 683 47.1% 12 16.6% - - - NULL SELPLG 6404 genome.wustl.edu 37 12 109017675 109017675 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000228463 -1 known p.V137L 0.000 622 0% 751 48.3% 23 17.3% unknown(0) tolerated(0.36) - NULL CORO1C 23603 genome.wustl.edu 37 12 109055854 109055854 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014325.2 -1 reviewed p.V133 0.900 83 0% 114 42.1% 57 54.3% - - - HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 SSH1 54434 genome.wustl.edu 37 12 109182423 109182423 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018984.3 -1 validated p.R831W 0.992 56 1.8% 68 47.1% 7 42.8% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SSH1 54434 genome.wustl.edu 37 12 109194668 109194668 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018984.3 -1 validated p.D346N 1.000 164 0% 213 40.4% 2 0% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_DSPc,HMMSmart_SM00195,superfamily_(Phosphotyrosine protein) phosphatases II USP30 84749 genome.wustl.edu 37 12 109509466 109509466 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032663.3 +1 validated p.R177Q 1.000 142 0% 199 51.8% 11 45.4% benign(0.077) tolerated(0.58) neutral(0.010) HMMPfam_UCH,superfamily_SSF54001 USP30 84749 genome.wustl.edu 37 12 109523662 109523662 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032663.3 +1 validated p.A494T 1.000 47 0% 90 14.4% 15 33.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_UCH,superfamily_SSF54001 ACACB 32 genome.wustl.edu 37 12 109577476 109577476 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001093.3 +1 reviewed p.R89I 0.000 83 0% 87 29.9% 0 - possibly_damaging(0.882) deleterious(0) deleterious(0.789) NULL MYO1H 283446 genome.wustl.edu 37 12 109839051 109839051 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001101421.3 +1 provisional p.P226S 1.000 66 0% 97 47.4% 0 - benign(0.088) tolerated(0.35) neutral(0.027) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases KCTD10 83892 genome.wustl.edu 37 12 109898592 109898592 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_031954.3 -1 provisional p.R79H 1.000 87 0% 102 40.2% 30 43.3% probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMSmart_SM00225,HMMPfam_K_tetra,superfamily_POZ domain UBE3B 89910 genome.wustl.edu 37 12 109928920 109928920 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_130466.2 +1 reviewed p.S234Y 0.973 201 0% 262 42.7% 6 50% benign(0.313) deleterious(0) deleterious(0.542) NULL UBE3B 89910 genome.wustl.edu 37 12 109940977 109940977 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_130466.2 +1 reviewed p.R478W 1.000 103 0% 151 49.7% 10 40% probably_damaging(1) deleterious(0) deleterious(0.945) NULL MVK 4598 genome.wustl.edu 37 12 110019209 110019209 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000431.2 +1 reviewed p.P127 0.986 42 0% 59 35.6% 10 70% - - - superfamily_Ribosomal protein S5 domain 2-like CCDC63 160762 genome.wustl.edu 37 12 111319065 111319065 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152591.1 +1 provisional p.R273H 0.972 89 1.1% 137 48.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL CUX2 23316 genome.wustl.edu 37 12 111747900 111747900 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015267.3 +1 validated p.S438 1.000 57 0% 88 37.5% 3 33.3% - - - NULL CUX2 23316 genome.wustl.edu 37 12 111749989 111749989 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015267.3 +1 validated p.I662 0.986 89 0% 156 37.8% 1 100% - - - NULL CUX2 23316 genome.wustl.edu 37 12 111785554 111785554 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015267.3 +1 validated p.V1296L 0.929 77 0% 93 40.9% 0 - benign(0.022) tolerated(0.19) neutral(0.051) NULL ATXN2 6311 genome.wustl.edu 37 12 111907919 111907919 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002973.3 -1 reviewed p.A1103 0.666 144 0% 211 37% 119 70.5% unknown(0) - - NULL ATXN2 6311 genome.wustl.edu 37 12 111951257 111951257 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002973.3 -1 reviewed p.E648* 1.000 161 0% 206 42.2% 8 25% - - - NULL ATXN2 6311 genome.wustl.edu 37 12 111951304 111951304 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002973.3 -1 reviewed p.R632Q 1.000 122 0% 205 33.2% 14 14.2% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL ATXN2 6311 genome.wustl.edu 37 12 111956087 111956087 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002973.3 -1 reviewed p.P537 1.000 129 0% 147 48.3% 10 30% - - - NULL ATXN2 6311 genome.wustl.edu 37 12 111962999 111962999 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002973.3 -1 reviewed p.D391 0.995 232 0% 335 14% 3 0% - - - NULL NAA25 80018 genome.wustl.edu 37 12 112528643 112528643 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024953.3 -1 reviewed p.R57I 1.000 132 0% 171 47.4% 8 62.5% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_TPR-like TRAFD1 10906 genome.wustl.edu 37 12 112568330 112568330 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001143906.1 +1 validated p.A2T 1.000 299 0% 409 41.6% 13 38.4% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL OAS3 4940 genome.wustl.edu 37 12 113403750 113403750 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006187.2 +1 reviewed p.R869C 0.795 64 0% 55 47.3% 14 50% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_NTP_transf_2,superfamily_Nucleotidyltransferase LHX5 64211 genome.wustl.edu 37 12 113901345 113901345 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_022363.2 -1 reviewed p.Y287D 1.000 14 0% 28 25% 0 - probably_damaging(0.98) deleterious(0.02) deleterious(0.807) NULL TBX5 6910 genome.wustl.edu 37 12 114803998 114803998 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000192.3 -1 reviewed p.S318R 0.814 300 0.3% 398 44.2% 0 - benign(0.335) tolerated(0.08) neutral(0.405) NULL MED13L 23389 genome.wustl.edu 37 12 116422043 116422043 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015335.3 -1 validated p.E1491 1.000 115 0% 170 48.8% 46 39.1% - - - HMMPfam_TRAP_240kDa MED13L 23389 genome.wustl.edu 37 12 116434360 116434360 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015335.3 -1 validated p.R973W 1.000 83 0% 118 38.1% 9 55.5% probably_damaging(1) deleterious(0) deleterious(0.945) NULL MED13L 23389 genome.wustl.edu 37 12 116460322 116460322 + Silent SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015335.3 -1 validated p.P188 0.633 120 0% 189 42.9% 7 14.2% - - - NULL MED13L 23389 genome.wustl.edu 37 12 116549268 116549268 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015335.3 -1 validated p.T120 1.000 213 0% 261 37.9% 6 66.6% - - - NULL TESC 54997 genome.wustl.edu 37 12 117479767 117479767 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017899.3 -1 validated p.F237 0.873 40 0% 70 58.6% 11 9% - - - superfamily_EF-hand NOS1 4842 genome.wustl.edu 37 12 117691506 117691506 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000620.2 -1 reviewed p.S862* 1.000 164 0% 240 48.3% 0 - - - - HMMPfam_Flavodoxin_1,superfamily_Flavoproteins KSR2 283455 genome.wustl.edu 37 12 118298172 118298172 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_173598.4 -1 validated p.R53H 1.000 47 0% 62 54.8% 1 0% possibly_damaging(0.865) deleterious(0.04) deleterious(0.684) NULL RFC5 5985 genome.wustl.edu 37 12 118456908 118456908 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_007370.4 +1 reviewed p.D33Y 1.000 167 0% 215 14.9% 3 0% possibly_damaging(0.944) deleterious(0.01) deleterious(0.794) superfamily_SSF52540 RFC5 5985 genome.wustl.edu 37 12 118457550 118457550 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_007370.4 +1 reviewed p.E82* 1.000 138 0% 142 40.1% 10 10% - - - HMMSmart_AAA,HMMPfam_AAA,superfamily_SSF52540 TAOK3 51347 genome.wustl.edu 37 12 118673399 118673399 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016281.3 -1 validated p.A172V 1.000 224 0.4% 229 48% 4 50% benign(0) tolerated(1) - HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase PRKAB1 5564 genome.wustl.edu 37 12 120117793 120117793 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006253.4 +1 reviewed p.A241V 0.999 218 0% 330 26.4% 83 13.2% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_AMPKBI CIT 11113 genome.wustl.edu 37 12 120135628 120135628 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_007174.1 -1 validated p.A1864 0.002 98 0% 157 41.4% 9 66.6% - - - HMMPfam_CNH,HMMSmart_SM00036 CIT 11113 genome.wustl.edu 37 12 120210615 120210615 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_007174.1 -1 validated p.D681N 1.000 94 0% 143 11.9% 1 0% possibly_damaging(0.505) tolerated(0.09) neutral(0.466) NULL GCN1L1 10985 genome.wustl.edu 37 12 120567162 120567162 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006836.1 -1 validated p.D2603G 1.000 162 0% 221 45.2% 64 0% possibly_damaging(0.546) deleterious(0.01) deleterious(0.591) superfamily_ARM repeat GCN1L1 10985 genome.wustl.edu 37 12 120575054 120575054 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006836.1 -1 validated p.E2245K 1.000 221 0% 224 45.5% 52 42.3% benign(0.006) deleterious(0.01) neutral(0.406) superfamily_ARM repeat COX6A1 1337 genome.wustl.edu 37 12 120876272 120876272 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004373.2 +1 reviewed p.E65G 0.226 33 0% 56 39.3% 1664 49.6% benign(0.359) tolerated(0.08) neutral(0.414) HMMPfam_COX6A,superfamily_COX6A CABP1 9478 genome.wustl.edu 37 12 121098115 121098115 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001033677.1 +1 reviewed p.E268K 1.000 113 0% 128 44.5% 1 0% probably_damaging(0.997) deleterious(0) deleterious(0.911) superfamily_EF-hand MLEC 9761 genome.wustl.edu 37 12 121132708 121132708 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014730.2 +1 validated p.D166N 1.000 275 0% 414 37.9% 139 41% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ACADS 35 genome.wustl.edu 37 12 121176360 121176360 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000017.2 +1 reviewed p.G274S 1.000 23 0% 44 54.5% 83 49.3% probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_Acyl-CoA_dh_1,superfamily_AcylCoADH_C_like OASL 8638 genome.wustl.edu 37 12 121458637 121458637 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003733.2 -1 validated p.I424 0.260 90 0% 128 50% 0 - - - - HMMSmart_SM00213,superfamily_Ubiquitin-like WDR66 144406 genome.wustl.edu 37 12 122359260 122359260 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_144668.4 +1 validated p.E17* 0.009 212 0% 249 44.2% 0 - - - - superfamily_WD40 repeat-like MLXIP 22877 genome.wustl.edu 37 12 122625589 122625589 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000319080 +1 known p.S866F 1.000 47 0% 59 42.4% 34 26.4% probably_damaging(0.958) tolerated(0.05) deleterious(0.747) NULL DIABLO 56616 genome.wustl.edu 37 12 122701381 122701381 + Nonsense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_019887.4 -1 reviewed p.Y117* 0.952 353 0% 473 48% 34 17.6% - - - superfamily_Smac/diablo,HMMPfam_Smac_DIABLO CLIP1 6249 genome.wustl.edu 37 12 122757433 122757433 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002956.2 -1 validated p.E1425K 1.000 218 0% 291 48.8% 41 75.6% possibly_damaging(0.867) deleterious(0.03) deleterious(0.701) NULL CLIP1 6249 genome.wustl.edu 37 12 122825788 122825788 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002956.2 -1 validated p.E644* 0.999 276 0% 359 42.3% 4 25% - - - NULL KNTC1 9735 genome.wustl.edu 37 12 123087264 123087264 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014708.4 +1 reviewed p.A1601V 1.000 297 0% 410 43.2% 1 0% benign(0.005) tolerated(0.27) neutral(0.034) HMMPfam_Rod_C KNTC1 9735 genome.wustl.edu 37 12 123093974 123093974 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014708.4 +1 reviewed p.R1847Q 0.000 238 0% 254 47.2% 7 42.8% benign(0.001) tolerated(0.41) neutral(0.015) HMMPfam_Rod_C KNTC1 9735 genome.wustl.edu 37 12 123105139 123105139 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014708.4 +1 reviewed p.R2088I 0.997 154 0% 232 15.5% 1 100% probably_damaging(0.99) deleterious(0.01) deleterious(0.847) HMMPfam_Rod_C DENR 8562 genome.wustl.edu 37 12 123249868 123249868 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003677.3 +1 reviewed p.E77* 1.000 424 0% 526 42.2% 6 0% - - - superfamily_TIF_SUI1 ARL6IP4 51329 genome.wustl.edu 37 12 123465788 123465788 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018694.2 +1 validated p.R157S 0.113 33 0% 43 30.2% 74 39.1% benign(0.299) tolerated(0.52) neutral(0.101) HMMPfam_SR-25 ARL6IP4 51329 genome.wustl.edu 37 12 123465894 123465894 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000392433 +1 known p.G177 0.005 16 0% 17 58.8% 10 50% - - - NULL ARL6IP4 51329 genome.wustl.edu 37 12 123466014 123466014 + Silent SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000392433 +1 known p.C217 0.000 5 0.000 8 0.500 1 0% - - - HMMPfam_SR-25 MPHOSPH9 10198 genome.wustl.edu 37 12 123649915 123649915 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_022782.2 -1 validated p.E749* 0.996 289 0.3% 336 38.1% 0 - - - - NULL MPHOSPH9 10198 genome.wustl.edu 37 12 123687316 123687316 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_022782.2 -1 validated p.D394Y 0.474 182 0% 232 43.5% 5 60% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL SBNO1 55206 genome.wustl.edu 37 12 123834929 123834929 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018183.3 -1 validated p.P20 0.828 128 0% 158 46.8% 14 50% - - - NULL TMED2 10959 genome.wustl.edu 37 12 124071330 124071330 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006815.3 +1 validated p.D73N 1.000 139 0% 178 38.8% 99 41.4% benign(0.247) deleterious(0.03) neutral(0.390) HMMPfam_EMP24_GP25L,superfamily_Supernatant protein factor (SPF) C-terminal domain TCTN2 79867 genome.wustl.edu 37 12 124175196 124175196 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024809.3 +1 validated p.A336 0.000 174 0% 187 43.9% 8 25% - - - HMMPfam_DUF1619 ATP6V0A2 23545 genome.wustl.edu 37 12 124233153 124233153 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_012463.3 +1 reviewed p.V586F 1.000 323 0% 391 39.4% 0 - possibly_damaging(0.949) tolerated(0.05) deleterious(0.738) HMMPfam_V_ATPase_I DNAH10 196385 genome.wustl.edu 37 12 124317763 124317763 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_207437.3 +1 validated p.E1432K 0.996 136 0% 187 44.9% 0 - possibly_damaging(0.941) deleterious(0.02) deleterious(0.770) HMMPfam_DHC_N2 DNAH10 196385 genome.wustl.edu 37 12 124323139 124323139 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_207437.3 +1 validated p.R1562I 0.994 164 0% 158 44.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DHC_N2 DNAH10 196385 genome.wustl.edu 37 12 124352046 124352046 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_207437.3 +1 validated p.E2282D 0.956 221 0% 336 41.1% 0 - benign(0.003) tolerated(0.63) neutral(0.004) NULL NCOR2 9612 genome.wustl.edu 37 12 124829344 124829344 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006312.3 -1 validated p.E1512K 1.000 30 0% 64 50% 74 31% probably_damaging(0.992) deleterious(0) deleterious(0.892) NULL NCOR2 9612 genome.wustl.edu 37 12 124835217 124835217 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006312.3 -1 validated p.R1261C 1.000 41 0% 60 26.7% 351 28.7% probably_damaging(1) deleterious(0) deleterious(0.945) NULL NCOR2 9612 genome.wustl.edu 37 12 124862911 124862911 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006312.3 -1 validated p.R680Q 0.981 112 0% 145 55.2% 53 37.7% unknown(0) deleterious(0.03) - NULL NCOR2 9612 genome.wustl.edu 37 12 124915314 124915314 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006312.3 -1 validated p.R301H 1.000 60 0% 97 42.3% 49 44.8% unknown(0) deleterious(0.01) - NULL NCOR2 9612 genome.wustl.edu 37 12 124970990 124970990 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006312.3 -1 validated p.E77A 1.000 33 0% 63 28.6% 30 56.6% unknown(0) deleterious(0) - NULL UBC 7316 genome.wustl.edu 37 12 125398194 125398194 + Silent SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_021009.4 -1 validated p.R42 1.000 386 0% 438 17.6% 2330 18.1% - - - HMMPfam_ubiquitin,HMMSmart_SM00213,PatternScan_UBIQUITIN_1,superfamily_Ubiquitin-like TMEM132C 92293 genome.wustl.edu 37 12 129190680 129190680 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001136103.2 +1 provisional p.F944C 1.000 76 0% 89 33.7% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL FZD10 11211 genome.wustl.edu 37 12 130648135 130648135 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_007197.2 +1 reviewed p.D216 0.997 23 0% 54 48.1% 14 42.8% unknown(0) - - NULL FZD10 11211 genome.wustl.edu 37 12 130648241 130648241 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_007197.2 +1 reviewed p.D252N 1.000 75 0% 94 46.8% 31 35.4% unknown(0) - - HMMPfam_Frizzled RIMBP2 23504 genome.wustl.edu 37 12 130935870 130935870 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015347.4 -1 validated p.I108S 0.000 52 0% 59 45.8% 1 0% benign(0) tolerated(0.49) neutral(0.011) NULL GPR133 283383 genome.wustl.edu 37 12 131471825 131471825 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_198827.3 +1 validated p.D226N 1.000 127 0% 170 51.2% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Concanavalin A-like lectins/glucanases GPR133 283383 genome.wustl.edu 37 12 131476829 131476829 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_198827.3 +1 validated p.E286D 0.854 237 0% 306 42.2% 0 - benign(0.001) deleterious(0.01) neutral(0.406) NULL EP400 57634 genome.wustl.edu 37 12 132475235 132475235 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015409.3 +1 validated p.N868H 0.996 168 0% 206 44.2% 2 0% unknown(0) - - NULL DDX51 317781 genome.wustl.edu 37 12 132627345 132627345 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_175066.3 -1 validated p.E200K 0.281 46 0% 68 39.7% 43 46.5% benign(0.003) tolerated(0.77) neutral(0.001) NULL POLE 5426 genome.wustl.edu 37 12 133244973 133244973 + Silent SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006231.2 -1 validated p.E714 0.925 101 0% 94 43.6% 6 66.6% - - - HMMPfam_DNA_pol_B,HMMSmart_POLBc,superfamily_SSF56672 POLE 5426 genome.wustl.edu 37 12 133253184 133253184 + Missense_Mutation SNP G G C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006231.2 -1 validated p.P286R 1.000 174 0% 174 51.1% 25 64% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DNA_pol_B_exo,HMMSmart_POLBc,superfamily_RNaseH_fold PGAM5 192111 genome.wustl.edu 37 12 133291548 133291548 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_138575.3 +1 validated p.H99R 1.000 68 0% 103 37.9% 96 43.7% possibly_damaging(0.877) deleterious(0.01) deleterious(0.747) HMMPfam_PGAM,superfamily_Phosphoglycerate mutase-like ANKLE2 23141 genome.wustl.edu 37 12 133313503 133313503 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015114.1 -1 validated p.F523 0.359 61 0% 68 47.1% 2 0% - - - NULL ANKLE2 23141 genome.wustl.edu 37 12 133327333 133327333 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015114.1 -1 validated p.K248T 1.000 425 0% 503 42.7% 2 50% probably_damaging(0.996) tolerated(0.3) deleterious(0.490) NULL ZNF268 10795 genome.wustl.edu 37 12 133779243 133779243 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003415.2 +1 validated p.R324I 0.631 80 0% 86 40.7% 6 33.3% probably_damaging(0.969) tolerated(0.18) neutral(0.467) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers LOC729535 729535 genome.wustl.edu 37 13 19271245 19271245 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_001130539.3 +1 model p.G46D 0.178 55 0% 80 32.5% 3 0% - - - NULL TPTE2 93492 genome.wustl.edu 37 13 19997208 19997208 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_199254.2 -1 validated p.E521D 0.008 347 0% 438 42.5% 0 - benign(0.044) tolerated(0.2) neutral(0.052) superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_PTEN_C2 PSPC1 55269 genome.wustl.edu 37 13 20304467 20304467 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001042414.1 -1 validated p.R357Q 1.000 349 0% 357 17.4% 96 14.5% probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL ZMYM2 7750 genome.wustl.edu 37 13 20567402 20567402 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003453.2 +1 validated p.E64K 1.000 156 0% 188 15.4% 13 7.6% probably_damaging(0.994) deleterious(0) deleterious(0.897) NULL ZMYM2 7750 genome.wustl.edu 37 13 20605542 20605542 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003453.2 +1 validated p.S645 0.979 281 0.4% 351 43.6% 4 0% - - - HMMPfam_zf-FCS,HMMSmart_TRASH ZMYM2 7750 genome.wustl.edu 37 13 20611029 20611029 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003453.2 +1 validated p.F758V 1.000 320 0% 437 41.2% 13 46.1% probably_damaging(0.958) deleterious(0.04) deleterious(0.750) HMMPfam_zf-FCS,HMMSmart_TRASH ZMYM2 7750 genome.wustl.edu 37 13 20656174 20656174 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003453.2 +1 validated p.R1158* 1.000 115 0% 80 37.5% 15 20% - - - NULL XPO4 64328 genome.wustl.edu 37 13 21383304 21383304 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_022459.4 -1 validated p.R471* 1.000 164 0% 203 48.8% 6 0% - - - superfamily_ARM-type_fold LATS2 26524 genome.wustl.edu 37 13 21549116 21549116 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014572.2 -1 reviewed p.R1054* 0.013 168 0% 238 23.5% 6 0% - - - NULL FGF9 2254 genome.wustl.edu 37 13 22246297 22246297 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002010.2 +1 reviewed p.I82 1.000 64 0% 47 17% 0 - - - - HMMPfam_FGF,HMMSmart_SM00442,superfamily_Cytokine SGCG 6445 genome.wustl.edu 37 13 23777864 23777864 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000231.2 +1 reviewed p.E11* 1.000 206 0% 312 43.9% 0 - - - - NULL PARP4 143 genome.wustl.edu 37 13 25051988 25051988 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006437.3 -1 reviewed p.E547G 1.000 37 0% 36 16.7% 6 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PARP,superfamily_SSF56399 ATP12A 479 genome.wustl.edu 37 13 25263465 25263465 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001676.5 +1 reviewed p.E166D 1.000 388 0% 502 45.8% 0 - possibly_damaging(0.767) tolerated(0.08) deleterious(0.585) HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transmembrane domain M RNF17 56163 genome.wustl.edu 37 13 25374652 25374652 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_031277.2 +1 reviewed p.D580Y 1.000 298 0% 357 41.2% 0 - probably_damaging(1) deleterious(0.05) deleterious(0.845) NULL RNF17 56163 genome.wustl.edu 37 13 25400128 25400128 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000381927 +1 known p.W757C 0.044 5 0.000 10 0.600 0 - - - - NULL MTMR6 9107 genome.wustl.edu 37 13 25842002 25842002 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004685.3 -1 validated p.K73N 1.000 217 0.5% 266 37.6% 3 100% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_PH domain-like ATP8A2 51761 genome.wustl.edu 37 13 26125499 26125499 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016529.4 +1 validated p.K305N 1.000 275 0% 398 41.5% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ATP8A2 51761 genome.wustl.edu 37 13 26343361 26343361 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016529.4 +1 validated p.I854 0.004 53 0% 92 46.7% 0 - - - - superfamily_HAD-like MTIF3 219402 genome.wustl.edu 37 13 28014344 28014344 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152912.4 -1 reviewed p.K81T 1.000 183 0% 247 48.2% 21 47.6% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_IF3_N,superfamily_Translation initiation factor IF3 N-terminal domain FLT3 2322 genome.wustl.edu 37 13 28622457 28622457 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004119.2 -1 reviewed p.R387Q 0.004 349 0.3% 429 44.5% 0 - benign(0) tolerated(0.75) neutral(0.002) NULL PAN3 255967 genome.wustl.edu 37 13 28844889 28844889 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_175854.7 +1 validated p.S415Y 1.000 241 0% 276 40.9% 8 50% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) superfamily_Kinase_like PAN3 255967 genome.wustl.edu 37 13 28851452 28851452 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_175854.7 +1 validated p.L510V 1.000 310 0% 362 50.3% 6 50% possibly_damaging(0.601) tolerated(0.45) neutral(0.220) superfamily_Kinase_like FLT1 2321 genome.wustl.edu 37 13 28891687 28891687 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002019.4 -1 reviewed p.R1112C 0.995 172 0% 223 51.6% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) FLT1 2321 genome.wustl.edu 37 13 29001901 29001901 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002019.4 -1 reviewed p.L422 1.000 209 0% 237 40.5% 9 0% - - - HMMSmart_SM00409,superfamily_Immunoglobulin MTUS2 23281 genome.wustl.edu 37 13 30054269 30054269 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000417109 +1 known p.S18F 0.000 32 0% 25 48% 0 - unknown(0) - - NULL SLC7A1 6541 genome.wustl.edu 37 13 30107081 30107081 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003045.4 -1 validated p.D137N 1.000 85 0% 109 48.6% 25 48% probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL HMGB1 3146 genome.wustl.edu 37 13 31036818 31036818 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002128.4 -1 validated p.R110C 1.000 114 0% 170 44.7% 258 39.1% benign(0.058) tolerated(0.11) neutral(0.275) HMMPfam_HMG_box,HMMSmart_SM00398,superfamily_HMG-box USPL1 10208 genome.wustl.edu 37 13 31205223 31205223 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005800.4 +1 validated p.Q160H 0.000 76 0% 115 20.9% 9 22.2% probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL HSPH1 10808 genome.wustl.edu 37 13 31725823 31725823 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006644.2 -1 validated p.R196W 0.998 173 0% 225 26.7% 23 26% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_HSP70,superfamily_Actin-like ATPase domain RXFP2 122042 genome.wustl.edu 37 13 32355842 32355842 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_130806.3 +1 reviewed p.N274D 0.895 221 0% 260 42.3% 0 - benign(0.004) tolerated(0.4) neutral(0.016) HMMSmart_SM00369,superfamily_L domain-like RXFP2 122042 genome.wustl.edu 37 13 32366033 32366033 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_130806.3 +1 reviewed p.L412 1.000 432 0% 550 42.5% 0 - - - - superfamily_Family A G protein-coupled receptor-like RXFP2 122042 genome.wustl.edu 37 13 32366846 32366846 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_130806.3 +1 reviewed p.F469L 0.991 188 0% 247 46.6% 0 - benign(0.003) tolerated(0.46) neutral(0.012) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like RXFP2 122042 genome.wustl.edu 37 13 32371485 32371485 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_130806.3 +1 reviewed p.F645C 1.000 537 0% 694 42.2% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like FRY 10129 genome.wustl.edu 37 13 32709308 32709308 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_023037.2 +1 validated p.K355N 1.000 137 0% 115 47.8% 0 - possibly_damaging(0.897) tolerated(0.15) deleterious(0.595) NULL FRY 10129 genome.wustl.edu 37 13 32749762 32749762 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_023037.2 +1 validated p.S805L 1.000 396 0% 495 40% 1 0% benign(0.018) tolerated(0.07) neutral(0.320) NULL ZAR1L 646799 genome.wustl.edu 37 13 32885823 32885823 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001136571.1 -1 reviewed p.S80 0.003 34 0% 50 44% 0 - - - - NULL BRCA2 675 genome.wustl.edu 37 13 32906477 32906477 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000059.3 +1 reviewed p.P288S 0.046 150 0% 172 41.3% 0 - probably_damaging(0.991) tolerated(0.1) deleterious(0.730) NULL BRCA2 675 genome.wustl.edu 37 13 32912638 32912638 + Missense_Mutation SNP A A C rs80359432 TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000059.3 +1 reviewed p.E1382D 0.042 187 0% 232 44.4% 1 100% probably_damaging(1) tolerated(0.1) deleterious(0.786) NULL BRCA2 675 genome.wustl.edu 37 13 32912750 32912750 + Missense_Mutation SNP G G A rs80359436 TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000059.3 +1 reviewed p.D1420N 0.050 75 0% 110 37.3% 0 - benign(0.124) deleterious(0.01) neutral(0.416) NULL BRCA2 675 genome.wustl.edu 37 13 32913282 32913282 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000059.3 +1 reviewed p.S1597Y 0.462 33 0% 52 42.3% 0 - benign(0.002) deleterious(0.03) neutral(0.364) NULL BRCA2 675 genome.wustl.edu 37 13 32913846 32913846 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000059.3 +1 reviewed p.T1785I 0.000 99 0% 120 44.2% 0 - benign(0.106) tolerated(0.29) neutral(0.037) NULL BRCA2 675 genome.wustl.edu 37 13 32915295 32915295 + Missense_Mutation SNP G G T rs80358906 byCluster;byFrequency TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000059.3 +1 reviewed p.R2268I 0.994 126 0% 157 41.4% 0 - probably_damaging(0.996) deleterious(0.01) deleterious(0.867) NULL BRCA2 675 genome.wustl.edu 37 13 32929243 32929243 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000059.3 +1 reviewed p.R2418I 0.004 163 0% 239 44.8% 0 - probably_damaging(0.982) deleterious(0.03) deleterious(0.791) NULL N4BP2L1 90634 genome.wustl.edu 37 13 32978345 32978345 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001079691.1 -1 validated p.E154* 1.000 271 0% 319 42.9% 1 0% - - - NULL N4BP2L2 10443 genome.wustl.edu 37 13 33016682 33016682 + Silent SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_033111.3 -1 validated p.F664 0.002 90 0% 120 40.8% 0 - - - - NULL PDS5B 23047 genome.wustl.edu 37 13 33226000 33226000 + Nonsense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015032.3 +1 reviewed p.Y56* 0.996 191 0% 215 44.2% 0 - - - - superfamily_ARM repeat PDS5B 23047 genome.wustl.edu 37 13 33309466 33309466 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015032.3 +1 reviewed p.R802Q 1.000 259 0% 355 18.6% 2 0% benign(0.008) tolerated(0.06) neutral(0.323) superfamily_ARM repeat KL 9365 genome.wustl.edu 37 13 33635798 33635798 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004795.3 +1 reviewed p.F861S 0.000 87 0% 124 37.1% 1 0% benign(0) tolerated(0.65) neutral(0.003) HMMPfam_Glyco_hydro_1,superfamily_(Trans)glycosidases NBEA 26960 genome.wustl.edu 37 13 35615082 35615082 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015678.4 +1 validated p.E103* 1.000 170 0% 216 49.5% 1 0% - - - superfamily_ARM repeat NBEA 26960 genome.wustl.edu 37 13 35683434 35683434 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015678.4 +1 validated p.R563I 1.000 239 0% 280 37.1% 0 - probably_damaging(0.976) deleterious(0.05) deleterious(0.763) superfamily_ARM repeat NBEA 26960 genome.wustl.edu 37 13 35923326 35923326 + Missense_Mutation SNP G G T rs151318906 byCluster;by1000genomes TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015678.4 +1 validated p.E1995D 1.000 279 0% 372 45.4% 0 - possibly_damaging(0.796) tolerated(0.54) neutral(0.306) HMMPfam_DUF1088,superfamily_ARM repeat MAB21L1 4081 genome.wustl.edu 37 13 36049310 36049310 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005584.4 -1 reviewed p.P322 0.083 122 0% 148 13.5% 0 - - - - HMMPfam_Mab-21 SOHLH2 54937 genome.wustl.edu 37 13 36765930 36765930 + Splice_Site SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017826.2 -1 validated e5+2 1.000 292 0% 289 41.5% 0 - - - - - SPG20 23111 genome.wustl.edu 37 13 36886531 36886531 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001142294.1 -1 reviewed p.E523* 1.000 235 0.4% 265 43% 14 14.2% - - - NULL ALG5 29880 genome.wustl.edu 37 13 37524129 37524129 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_013338.4 -1 reviewed p.R309* 1.000 141 0% 147 40.1% 19 31.5% - - - NULL ALG5 29880 genome.wustl.edu 37 13 37569725 37569725 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_013338.4 -1 reviewed p.I25 0.992 295 0% 358 37.7% 18 50% - - - NULL TRPC4 7223 genome.wustl.edu 37 13 38229288 38229288 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003306.1 -1 validated p.I607 1.000 138 0% 189 42.3% 0 - - - - HMMPfam_Ion_trans UFM1 51569 genome.wustl.edu 37 13 38924257 38924257 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000379641 +1 known p.I2 0.000 93 0% 103 46.6% 2 50% - - - NULL FREM2 341640 genome.wustl.edu 37 13 39264606 39264606 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_207361.4 +1 reviewed p.E1042G 1.000 135 0% 148 31.8% 2 0% possibly_damaging(0.652) deleterious(0.04) deleterious(0.578) NULL COG6 57511 genome.wustl.edu 37 13 40253683 40253683 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000422759 +1 known p.S205* 1.000 215 0% 241 37.8% 4 50% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_COG6 FOXO1 2308 genome.wustl.edu 37 13 41134688 41134688 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002015.3 -1 reviewed p.R314C 1.000 106 0% 117 44.4% 18 16.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL MRPS31 10240 genome.wustl.edu 37 13 41303566 41303566 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005830.3 -1 reviewed p.R377I 1.000 101 0% 99 43.4% 0 - probably_damaging(0.976) deleterious(0) deleterious(0.863) NULL MRPS31 10240 genome.wustl.edu 37 13 41341095 41341095 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005830.3 -1 reviewed p.R76Q 0.001 370 0% 494 47.4% 17 29.4% benign(0.098) tolerated(0.62) neutral(0.011) NULL ELF1 1997 genome.wustl.edu 37 13 41518058 41518058 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_172373.3 -1 reviewed p.R178I 1.000 471 0% 484 44% 6 16.6% probably_damaging(0.998) deleterious(0.04) deleterious(0.823) superfamily_SSF46785 WBP4 11193 genome.wustl.edu 37 13 41636813 41636813 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_007187.3 +1 reviewed p.F12L 1.000 334 0% 391 18.2% 5 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_ZnF_U1,HMMPfam_zf-U1,superfamily_SSF57667 KBTBD7 84078 genome.wustl.edu 37 13 41767494 41767494 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032138.4 -1 provisional p.Q300H 0.999 121 0% 177 37.3% 27 33.3% possibly_damaging(0.716) tolerated(0.09) deleterious(0.555) NULL MTRF1 9617 genome.wustl.edu 37 13 41800681 41800681 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004294.2 -1 reviewed p.E338* 1.000 438 0% 472 47% 2 50% - - - HMMPfam_RF-1,superfamily_SSF75620 KIAA0564 23078 genome.wustl.edu 37 13 42267087 42267087 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015058.1 -1 validated p.D1196Y 0.999 184 0% 220 27.7% 5 0% probably_damaging(0.981) deleterious(0.05) deleterious(0.771) NULL KIAA0564 23078 genome.wustl.edu 37 13 42460121 42460121 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015058.1 -1 validated p.E304* 1.000 222 0% 270 41.9% 2 50% - - - NULL DGKH 160851 genome.wustl.edu 37 13 42803249 42803249 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152910.3 +1 reviewed p.E1153K 1.000 339 0% 374 13.4% 1 0% benign(0.247) tolerated(0.39) neutral(0.041) NULL AKAP11 11215 genome.wustl.edu 37 13 42875845 42875845 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016248.2 +1 reviewed p.F988C 0.165 82 0% 128 45.3% 1 0% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) NULL EPSTI1 94240 genome.wustl.edu 37 13 43566147 43566147 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001002264.1 -1 validated p.S52L 0.000 21 0% 16 62.5% 0 - benign(0.301) - - NULL ENOX1 55068 genome.wustl.edu 37 13 43930247 43930247 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001127615.1 -1 validated p.S211A 0.988 50 0% 92 38% 0 - benign(0.341) tolerated(0.16) neutral(0.167) superfamily_SSF54928 CCDC122 160857 genome.wustl.edu 37 13 44442875 44442875 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_144974.3 -1 validated p.Q37H 0.700 192 0% 239 16.3% 0 - possibly_damaging(0.926) deleterious(0.02) deleterious(0.758) NULL TSC22D1 8848 genome.wustl.edu 37 13 45010694 45010694 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006022.2 -1 provisional p.S24Y 1.000 104 0% 116 44.8% 33 51.5% possibly_damaging(0.952) deleterious(0) deleterious(0.840) NULL FAM194B 220081 genome.wustl.edu 37 13 46135539 46135539 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_182542.2 -1 predicted p.E458* 0.020 734 0% 863 40.6% 0 - - - - NULL ZC3H13 23091 genome.wustl.edu 37 13 46543843 46543843 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015070.3 -1 validated p.R946* 1.000 502 0% 623 10.9% 7 0% - - - NULL CPB2 1361 genome.wustl.edu 37 13 46638867 46638867 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001872.3 -1 reviewed p.W238R 1.000 215 0% 278 41.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Peptidase_M14,HMMSmart_SM00631,superfamily_Zn-dependent exopeptidases LCP1 3936 genome.wustl.edu 37 13 46701847 46701847 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002298.4 -1 reviewed p.S588Y 1.000 193 0% 237 35% 11 27.2% probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_CH,HMMSmart_CH,superfamily_Calponin-homology MED4 29079 genome.wustl.edu 37 13 48651340 48651340 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014166.2 -1 provisional p.E250* 1.000 257 0% 305 47.5% 45 28.8% - - - HMMPfam_VDRIP RB1 5925 genome.wustl.edu 37 13 48939036 48939036 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000321.2 +1 reviewed p.N290H 1.000 182 0% 249 10.8% 0 - probably_damaging(0.991) tolerated(0.09) deleterious(0.740) NULL RCBTB2 1102 genome.wustl.edu 37 13 49086240 49086240 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001268.2 -1 reviewed p.R196Q 1.000 209 0% 276 49.3% 9 11.1% probably_damaging(1) tolerated(0.11) deleterious(0.772) HMMPfam_RCC1,superfamily_RCC1/BLIP-II CDADC1 81602 genome.wustl.edu 37 13 49842083 49842083 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_030911.2 +1 validated p.F296 0.989 121 0% 127 44.1% 0 - - - - NULL SETDB2 83852 genome.wustl.edu 37 13 50050684 50050684 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_031915.2 +1 validated p.S138 0.000 65 0% 83 14.5% 0 - - - - NULL SETDB2 83852 genome.wustl.edu 37 13 50050985 50050985 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_031915.2 +1 validated p.E239* 0.999 191 0% 240 28.7% 3 0% - - - superfamily_SET domain SETDB2 83852 genome.wustl.edu 37 13 50056876 50056876 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_031915.2 +1 validated p.R399K 1.000 66 0% 123 34.1% 7 28.5% probably_damaging(1) tolerated(0.49) deleterious(0.510) HMMPfam_SET,HMMSmart_SM00317,superfamily_SET domain RCBTB1 55213 genome.wustl.edu 37 13 50115948 50115948 + Silent SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018191.3 -1 reviewed p.R396 0.990 178 0% 169 37.9% 5 100% - - - HMMSmart_BTB,superfamily_BTB/POZ_fold,HMMPfam_BTB RCBTB1 55213 genome.wustl.edu 37 13 50118958 50118958 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018191.3 -1 reviewed p.E363* 1.000 251 0% 317 43.2% 3 0% - - - superfamily_BTB/POZ_fold,HMMPfam_BTB KCNRG 283518 genome.wustl.edu 37 13 50589903 50589903 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_173605.1 +1 validated p.R92C 0.550 230 0% 257 37.4% 3 33.3% possibly_damaging(0.848) deleterious(0.05) deleterious(0.671) HMMSmart_SM00225,HMMPfam_K_tetra,superfamily_POZ domain KCNRG 283518 genome.wustl.edu 37 13 50590112 50590112 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_173605.1 +1 validated p.M161I 0.007 91 0% 132 45.5% 26 38.4% benign(0.004) tolerated(0.05) neutral(0.345) NULL GUCY1B2 2974 genome.wustl.edu 37 13 51599479 51599479 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000389600 -1 known p.F100 1.000 219 0% 224 38.8% 0 - - - - HMMPfam_HNOBA INTS6 26512 genome.wustl.edu 37 13 51939971 51939971 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_012141.2 -1 reviewed p.R861* 1.000 284 0.4% 328 41.2% 5 20% - - - NULL INTS6 26512 genome.wustl.edu 37 13 51969505 51969505 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_012141.2 -1 reviewed p.E182* 1.000 131 0% 205 47.8% 6 0% - - - NULL NEK5 341676 genome.wustl.edu 37 13 52676336 52676336 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_199289.1 -1 provisional p.S234 0.001 162 0% 169 42% 0 - - - - HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase NEK5 341676 genome.wustl.edu 37 13 52684547 52684547 + Splice_Site SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_199289.1 -1 provisional e5-1 1.000 467 0% 563 44% 0 - - - - - NEK3 4752 genome.wustl.edu 37 13 52728269 52728269 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000258597 -1 known p.L53I 1.000 97 0% 146 41.1% 0 - probably_damaging(1) tolerated(0.2) deleterious(0.549) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase OLFM4 10562 genome.wustl.edu 37 13 53617255 53617255 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006418.3 +1 reviewed p.L196I 1.000 120 0% 166 31.9% 43 23.2% benign(0.106) tolerated(0.41) neutral(0.023) NULL PCDH17 27253 genome.wustl.edu 37 13 58207195 58207195 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001040429.2 +1 reviewed p.T172M 1.000 22 0% 36 41.7% 6 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDH17 27253 genome.wustl.edu 37 13 58208745 58208745 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001040429.2 +1 reviewed p.P689T 0.999 14 0% 23 26.1% 8 0% possibly_damaging(0.646) tolerated(0.3) neutral(0.255) HMMSmart_SM00112 PCDH17 27253 genome.wustl.edu 37 13 58299295 58299295 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001040429.2 +1 reviewed p.A1116D 0.997 198 0% 241 45.2% 1 0% benign(0.007) deleterious(0.02) neutral(0.383) NULL LOC341689 341689 genome.wustl.edu 37 13 59103020 59103020 + RNA SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XR_017487.3 +1 model NULL 0.314 106 0% 174 46.6% 0 - - - - - LOC341689 341689 genome.wustl.edu 37 13 59103751 59103751 + RNA SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XR_017487.3 +1 model NULL 0.264 117 0% 123 31.7% 0 - - - - - DIAPH3 81624 genome.wustl.edu 37 13 60384934 60384934 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001042517.1 -1 validated p.E1051* 1.000 462 0% 619 43.9% 0 - - - - HMMSmart_SM00498 DIAPH3 81624 genome.wustl.edu 37 13 60554976 60554976 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001042517.1 -1 validated p.A500S 0.992 368 0% 423 15.1% 0 - possibly_damaging(0.796) tolerated(0.67) neutral(0.301) NULL PCDH9 5101 genome.wustl.edu 37 13 67205542 67205542 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_203487.2 -1 reviewed p.S1047L 1.000 52 0% 99 51.5% 0 - benign(0.026) deleterious(0.04) neutral(0.350) NULL KLHL1 57626 genome.wustl.edu 37 13 70413273 70413273 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020866.2 -1 validated p.H417N 1.000 273 0% 310 41.6% 0 - benign(0) tolerated(0.32) neutral(0.024) NULL DIS3 22894 genome.wustl.edu 37 13 73347916 73347916 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014953.3 -1 validated p.R382Q 1.000 262 0% 348 46% 10 40% probably_damaging(0.991) deleterious(0.01) deleterious(0.850) NULL TBC1D4 9882 genome.wustl.edu 37 13 75884108 75884108 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014832.2 -1 validated p.R855* 1.000 540 0% 626 40.9% 0 - - - - NULL TBC1D4 9882 genome.wustl.edu 37 13 75900509 75900509 + Silent SNP C C A rs143268388 by1000genomes TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014832.2 -1 validated p.P619 0.995 149 0% 213 43.2% 7 28.5% - - - NULL TBC1D4 9882 genome.wustl.edu 37 13 75936576 75936576 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014832.2 -1 validated p.I222 0.935 137 0% 171 44.4% 1 0% - - - HMMPfam_PID,HMMSmart_SM00462,superfamily_PH domain-like LMO7 4008 genome.wustl.edu 37 13 76382124 76382124 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015842.2 +1 reviewed p.E336* 1.000 105 0% 131 39.7% 0 - - - - NULL LMO7 4008 genome.wustl.edu 37 13 76382315 76382315 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000447038 +1 known p.E308K 1.000 139 0% 193 44% 0 - - - - NULL FBXL3 26224 genome.wustl.edu 37 13 77581410 77581410 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_012158.2 -1 reviewed p.R386H 1.000 155 0% 274 42.7% 23 65.2% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) superfamily_SSF52047 MYCBP2 23077 genome.wustl.edu 37 13 77725049 77725049 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015057.4 -1 validated p.K2279N 1.000 336 0% 469 46.1% 3 66.6% probably_damaging(0.989) tolerated(0.37) neutral(0.459) superfamily_E set domains MYCBP2 23077 genome.wustl.edu 37 13 77786162 77786162 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015057.4 -1 validated p.R1026Q 1.000 208 0% 277 43.3% 1 100% probably_damaging(0.997) tolerated(0.08) deleterious(0.766) superfamily_RCC1/BLIP-II RNF219 79596 genome.wustl.edu 37 13 79190112 79190112 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024546.3 -1 validated p.S595Y 0.998 42 0% 56 14.3% 1 0% possibly_damaging(0.805) deleterious(0.01) deleterious(0.709) NULL SLITRK1 114798 genome.wustl.edu 37 13 84453630 84453630 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_052910.1 -1 reviewed p.S671 1.000 80 0% 79 11.4% 0 - - - - NULL SLITRK1 114798 genome.wustl.edu 37 13 84455450 84455450 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_052910.1 -1 reviewed p.L65M 1.000 88 1.1% 121 28.9% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) superfamily_SSF52058 SLITRK6 84189 genome.wustl.edu 37 13 86368962 86368962 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032229.2 -1 validated p.N561S 0.617 267 0% 367 13.1% 4 25% benign(0) tolerated(0.25) neutral(0.037) HMMSmart_SM00082,superfamily_L domain-like SLITRK5 26050 genome.wustl.edu 37 13 88330517 88330517 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015567.1 +1 validated p.F958L 1.000 148 0% 153 34% 1 100% benign(0.154) tolerated(0.61) neutral(0.018) NULL DCT 1638 genome.wustl.edu 37 13 95121132 95121132 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001129889.1 -1 validated p.D155N 1.000 194 0% 283 43.1% 0 - possibly_damaging(0.54) tolerated(0.08) deleterious(0.483) superfamily_Di-copper_centre TGDS 23483 genome.wustl.edu 37 13 95244505 95244505 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014305.2 -1 validated p.K71T 1.000 318 0% 437 49.4% 10 80% benign(0.003) tolerated(0.37) neutral(0.019) HMMPfam_Epimerase,superfamily_NAD(P)-binding Rossmann-fold domains CLDN10 9071 genome.wustl.edu 37 13 96212647 96212647 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006984.4 +1 reviewed p.M132V 0.772 340 0% 451 45.7% 12 58.3% benign(0.406) deleterious(0.02) deleterious(0.514) HMMPfam_PMP22_Claudin DZIP1 22873 genome.wustl.edu 37 13 96237094 96237094 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_198968.2 -1 validated p.S807F 0.000 175 0% 265 40% 0 - benign(0.011) tolerated(0.1) neutral(0.287) NULL DZIP1 22873 genome.wustl.edu 37 13 96241462 96241462 + Splice_Site SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_198968.2 -1 validated e16-1 1.000 127 0% 172 45.9% 0 - - - - - OXGR1 27199 genome.wustl.edu 37 13 97639571 97639571 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_080818.3 -1 reviewed p.R148Q 0.011 97 0% 121 38% 3 0% probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like RNF113B 140432 genome.wustl.edu 37 13 98828638 98828638 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_178861.4 -1 validated p.R285W 1.000 117 0% 130 45.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_RING,HMMPfam_zf-C3HC4,superfamily_SSF57850 STK24 8428 genome.wustl.edu 37 13 99127564 99127564 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003576.3 -1 validated p.E139K 1.000 278 0% 338 45.9% 30 26.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase SLC15A1 6564 genome.wustl.edu 37 13 99337154 99337154 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005073.3 -1 reviewed p.L651I 0.977 161 0.6% 188 41% 13 53.8% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_MFS general substrate transporter DOCK9 23348 genome.wustl.edu 37 13 99520541 99520541 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001130049.1 -1 validated p.R1013* 1.000 186 0% 253 23.3% 10 10% - - - NULL GPR183 1880 genome.wustl.edu 37 13 99947399 99947399 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004951.4 -1 reviewed p.A334D 0.995 236 0% 307 48.2% 2 0% probably_damaging(0.992) deleterious(0.02) deleterious(0.831) superfamily_SSF81321 TM9SF2 9375 genome.wustl.edu 37 13 100206576 100206576 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004800.1 +1 provisional p.R503* 1.000 180 0% 216 25.5% 84 0% - - - HMMPfam_EMP70 NALCN 259232 genome.wustl.edu 37 13 101881808 101881808 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_052867.2 -1 validated p.S521* 1.000 189 0% 191 42.4% 0 - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels ITGBL1 9358 genome.wustl.edu 37 13 102250624 102250624 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004791.1 +1 provisional p.S330 0.425 114 0% 155 20% 0 - - - - HMMPfam_EGF_2,superfamily_SSF57196 TPP2 7174 genome.wustl.edu 37 13 103290642 103290642 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003291.2 +1 reviewed p.P630 0.088 165 0% 244 49.6% 15 60% - - - NULL TPP2 7174 genome.wustl.edu 37 13 103299677 103299677 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003291.2 +1 reviewed p.D871N 1.000 160 0% 207 48.8% 13 38.4% probably_damaging(1) deleterious(0) deleterious(0.945) NULL METTL21C 196541 genome.wustl.edu 37 13 103338482 103338482 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001010977.1 -1 predicted p.E232* 1.000 95 0% 107 51.4% 0 - - - - HMMPfam_Methyltransf_16,superfamily_SSF53335 LOC643677 643677 genome.wustl.edu 37 13 103383305 103383305 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_002344085.1 -1 model p.R6429I 0.000 124 0% 185 42.7% 0 - unknown(0) - - NULL LOC643677 643677 genome.wustl.edu 37 13 103388013 103388013 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_002344085.1 -1 model p.E4860* 0.087 356 0% 492 45.9% 0 - - - - NULL LOC643677 643677 genome.wustl.edu 37 13 103393596 103393596 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_002344085.1 -1 model p.L3080I 0.007 82 0% 82 19.5% 0 - - - - NULL LOC643677 643677 genome.wustl.edu 37 13 103394081 103394081 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_002344085.1 -1 model p.S2918L 0.000 75 0% 106 49.1% 0 - - - - NULL LOC643677 643677 genome.wustl.edu 37 13 103394459 103394459 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_002344085.1 -1 model p.K2792T 0.003 272 0% 296 17.6% 0 - - - - NULL LOC643677 643677 genome.wustl.edu 37 13 103394956 103394956 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_002344085.1 -1 model p.A2626 0.001 203 0% 244 43.4% 0 - - - - NULL LOC643677 643677 genome.wustl.edu 37 13 103395289 103395289 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_002344085.1 -1 model p.L2515 0.000 165 0% 169 37.9% 0 - - - - NULL LOC643677 643677 genome.wustl.edu 37 13 103396449 103396449 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_002344085.1 -1 model p.S2129R 0.000 514 0.2% 733 16.6% 0 - - - - NULL LOC643677 643677 genome.wustl.edu 37 13 103401396 103401396 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_002344085.1 -1 model p.L480M 0.001 160 0% 197 44.2% 0 - - - - NULL LOC643677 643677 genome.wustl.edu 37 13 103401546 103401546 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_002344085.1 -1 model p.T430A 0.000 62 0% 81 61.7% 0 - - - - NULL TEX30 93081 genome.wustl.edu 37 13 103421846 103421846 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_138779.3 -1 validated p.C21G 1.000 164 0% 206 41.7% 2 50% benign(0.332) tolerated(0.08) neutral(0.404) superfamily_SSF53474 ERCC5 2073 genome.wustl.edu 37 13 103515212 103515212 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000123.2 +1 reviewed p.P571 0.007 120 0% 166 45.2% 20 50% - - - superfamily_PIN domain-like EFNB2 1948 genome.wustl.edu 37 13 107145409 107145409 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004093.2 -1 reviewed p.A327 0.896 54 0% 66 13.6% 8 0% - - - NULL ARGLU1 55082 genome.wustl.edu 37 13 107196474 107196474 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018011.3 -1 validated p.R231I 1.000 486 0% 504 46% 56 46.4% possibly_damaging(0.681) deleterious(0) deleterious(0.688) NULL MYO16 23026 genome.wustl.edu 37 13 109859041 109859041 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015011.1 +1 validated p.G1812R 0.000 86 0% 100 50% 0 - benign(0) tolerated(1) - NULL COL4A1 1282 genome.wustl.edu 37 13 110804682 110804682 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001845.4 -1 reviewed p.K1643E 1.000 19 0% 31 41.9% 438 5.4% unknown(0) tolerated(0.27) - HMMPfam_C4,HMMSmart_SM00111,superfamily_C-type lectin-like CARS2 79587 genome.wustl.edu 37 13 111299581 111299581 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024537.2 -1 validated p.D354N 0.997 30 0% 48 29.2% 102 42.1% possibly_damaging(0.767) tolerated(0.06) deleterious(0.607) HMMPfam_tRNA-synt_1e,superfamily_SSF52374 ING1 3621 genome.wustl.edu 37 13 111371951 111371951 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005537.3 +1 reviewed p.G314D 0.988 22 0% 53 20.8% 90 2.2% benign(0.002) tolerated(0.62) neutral(0.004) NULL TUBGCP3 10426 genome.wustl.edu 37 13 113143994 113143994 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006322.4 -1 provisional p.T822 0.032 387 0% 492 45.9% 7 28.5% - - - NULL F7 2155 genome.wustl.edu 37 13 113768252 113768252 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000131.3 +1 reviewed p.F136 0.883 54 0% 92 43.5% 1 0% - - - HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,PatternScan_EGF_1 F10 2159 genome.wustl.edu 37 13 113793763 113793763 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000504.3 +1 reviewed p.E117K 0.074 220 0% 288 46.2% 2 0% benign(0.072) tolerated(0.05) neutral(0.350) HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,PatternScan_EGF_1,PatternScan_EGF_2 LOC100289447 100289447 genome.wustl.edu 37 13 113795101 113795101 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_002344234.1 -1 model p.P460L 0.010 8 0.000 7 0.571 0 - - - - NULL PCID2 55795 genome.wustl.edu 37 13 113845241 113845241 + Silent SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001127202.1 -1 validated p.L138 0.988 414 0% 522 41.2% 34 44.1% - - - NULL PCID2 55795 genome.wustl.edu 37 13 113851512 113851512 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001127202.1 -1 validated p.K82 0.995 135 0% 203 15.8% 42 11.9% - - - NULL CUL4A 8451 genome.wustl.edu 37 13 113888220 113888220 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001008895.1 +1 validated p.D229Y 1.000 323 0% 429 41.7% 7 28.5% benign(0.001) deleterious(0.03) neutral(0.364) HMMPfam_Cullin,superfamily_Cullin repeat GRK1 6011 genome.wustl.edu 37 13 114321720 114321720 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000335678 +1 known p.E7K 1.000 51 0% 71 56.3% 0 - possibly_damaging(0.6) tolerated(0.06) deleterious(0.530) NULL GRK1 6011 genome.wustl.edu 37 13 114426094 114426094 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000335678 +1 known p.G345* 0.935 50 0% 65 35.4% 3 66.6% - - - HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase GAS6 2621 genome.wustl.edu 37 13 114523849 114523849 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000820.2 -1 reviewed p.P675 0.001 14 0% 20 30% 372 47.3% - - - superfamily_ConA_like_lec_gl CDC16 8881 genome.wustl.edu 37 13 115024965 115024965 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000417057 +1 known p.R221Q 0.000 65 0% 98 44.9% 0 - - - - NULL CDC16 8881 genome.wustl.edu 37 13 115030681 115030681 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001078645.1 +1 reviewed p.I523 0.823 573 0% 642 43.5% 64 32.8% - - - superfamily_TPR-like POTEG 404785 genome.wustl.edu 37 14 19553495 19553495 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001005356.2 +1 validated p.W27R 0.043 124 0% 113 29.2% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL POTEG 404785 genome.wustl.edu 37 14 19571349 19571349 + Silent SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001005356.2 +1 validated p.E376 0.021 840 0% 911 18.6% 0 - - - - NULL OR11H2 79334 genome.wustl.edu 37 14 20181330 20181330 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000334072 -1 known p.R249I 0.350 366 0% 385 33.8% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR4N2 390429 genome.wustl.edu 37 14 20295790 20295790 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001004723.1 +1 provisional p.F61L 1.000 413 0.5% 456 42.5% 0 - benign(0.002) deleterious(0.04) neutral(0.349) HMMPfam_7tm_1,superfamily_SSF81321 OR4K5 79317 genome.wustl.edu 37 14 20388949 20388949 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001005483.1 +1 provisional p.L62I 0.244 298 0% 317 39.4% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_7tm_1,superfamily_SSF81321 OR11G2 390439 genome.wustl.edu 37 14 20665684 20665684 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001005503.1 +1 provisional p.L64I 0.767 113 0% 183 45.4% 0 - benign(0.184) tolerated(0.33) neutral(0.041) superfamily_SSF81321 OR11H6 122748 genome.wustl.edu 37 14 20691971 20691971 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001004480.1 +1 provisional p.F35V 1.000 130 0% 163 42.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF81321 CCNB1IP1 57820 genome.wustl.edu 37 14 20779716 20779716 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_021178.3 -1 validated p.R276I 1.000 148 0% 206 44.2% 24 45.8% possibly_damaging(0.922) deleterious(0) deleterious(0.816) NULL TEP1 7011 genome.wustl.edu 37 14 20848445 20848445 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_007110.4 -1 reviewed p.Q1651R 0.082 520 0% 701 14.7% 5 0% probably_damaging(0.978) deleterious(0.01) deleterious(0.826) NULL TEP1 7011 genome.wustl.edu 37 14 20872834 20872834 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_007110.4 -1 reviewed p.R323Q 1.000 40 0% 49 55.1% 5 20% probably_damaging(1) deleterious(0.05) deleterious(0.845) HMMPfam_TROVE KLHL33 123103 genome.wustl.edu 37 14 20897515 20897515 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001109997.2 -1 validated p.A285 0.019 137 0% 168 35.7% 0 - - - - HMMPfam_Kelch_1,HMMSmart_Kelch,superfamily_Gal_oxid_central KLHL33 123103 genome.wustl.edu 37 14 20897989 20897989 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001109997.2 -1 validated p.F202L 0.999 61 0% 59 30.5% 0 - probably_damaging(0.991) tolerated(0.67) neutral(0.447) HMMPfam_Kelch_1,HMMSmart_Kelch,superfamily_Gal_oxid_central OSGEP 55644 genome.wustl.edu 37 14 20920533 20920533 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017807.2 -1 validated p.S64A 1.000 162 0% 180 38.9% 32 59.3% benign(0) tolerated(1) - HMMPfam_Peptidase_M22,superfamily_SSF53067 RNASE10 338879 genome.wustl.edu 37 14 20978684 20978684 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001012975.1 +1 provisional p.G18 0.991 213 0% 243 43.2% 1 100% - - - NULL RNASE9 390443 genome.wustl.edu 37 14 21024857 21024857 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001001673.3 -1 provisional p.K124N 0.998 152 0% 235 38.7% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) superfamily_RNase A-like ARHGEF40 55701 genome.wustl.edu 37 14 21542446 21542446 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018071.3 +1 validated p.F186S 1.000 35 0% 60 10% 8 0% probably_damaging(0.958) deleterious(0.02) deleterious(0.784) NULL HNRNPC 3183 genome.wustl.edu 37 14 21681181 21681181 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001077442.1 -1 reviewed p.R167Q 1.000 214 0% 248 45.2% 459 23.9% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL RPGRIP1 57096 genome.wustl.edu 37 14 21762910 21762910 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020366.3 +1 reviewed p.R54C 0.994 179 0% 222 43.7% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL CHD8 57680 genome.wustl.edu 37 14 21859627 21859627 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020920.3 -1 reviewed p.L2075I 1.000 71 0% 88 35.2% 44 45.4% benign(0.004) tolerated(0.16) neutral(0.059) HMMSmart_SM00592 TOX4 9878 genome.wustl.edu 37 14 21957407 21957407 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014828.2 +1 validated p.D219Y 1.000 259 0% 285 43.9% 16 50% possibly_damaging(0.882) deleterious(0) deleterious(0.789) superfamily_HMG-box METTL3 56339 genome.wustl.edu 37 14 21967676 21967676 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_019852.3 -1 reviewed p.R471H 1.000 199 0% 254 45.3% 97 46.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MT-A70 METTL3 56339 genome.wustl.edu 37 14 21971488 21971488 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_019852.3 -1 reviewed p.S184L 0.888 151 0% 165 43.6% 38 47.3% benign(0) tolerated(0.32) neutral(0.024) NULL OR10G3 26533 genome.wustl.edu 37 14 22038399 22038399 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001005465.1 -1 validated p.L159 0.996 89 0% 101 50.5% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 MMP14 4323 genome.wustl.edu 37 14 23313705 23313705 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004995.2 +1 reviewed p.F379 0.995 104 0% 165 43% 147 12.2% - - - superfamily_Hemopexin-like domain,HMMPfam_Hemopexin,HMMSmart_SM00120 MMP14 4323 genome.wustl.edu 37 14 23314956 23314956 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004995.2 +1 reviewed p.F486S 1.000 161 0% 222 37.4% 92 27.1% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_Hemopexin-like domain,HMMPfam_Hemopexin,HMMSmart_SM00120 PSMB5 5693 genome.wustl.edu 37 14 23504006 23504006 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002797.3 -1 reviewed p.D29N 0.995 66 0% 69 42% 112 51.7% benign(0.355) tolerated(0.11) neutral(0.384) NULL ACIN1 22985 genome.wustl.edu 37 14 23548098 23548098 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014977.3 -1 validated p.V704 0.040 131 0% 185 45.4% 78 34.6% - - - NULL BCL2L2 599 genome.wustl.edu 37 14 23777226 23777226 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004050.3 +1 reviewed p.D84N 0.988 68 0% 62 43.5% 4 50% benign(0.059) tolerated(0.38) neutral(0.022) HMMPfam_Bcl-2,HMMSmart_SM00337,superfamily_Bcl-2 inhibitors of programmed cell death EFS 10278 genome.wustl.edu 37 14 23829167 23829167 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005864.2 -1 reviewed p.T174A 0.887 14 0% 10 60% 1 0% benign(0) tolerated(0.95) - NULL MYH6 4624 genome.wustl.edu 37 14 23851750 23851750 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002471.3 -1 validated p.L1895 1.000 197 0% 302 41.4% 0 - - - - HMMPfam_Myosin_tail_1 AP1G2 8906 genome.wustl.edu 37 14 24035052 24035052 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003917.2 -1 reviewed p.S206 1.000 63 0% 103 36.9% 75 49.3% - - - HMMPfam_Adaptin_N,superfamily_ARM-type_fold IPO4 79711 genome.wustl.edu 37 14 24649726 24649726 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024658.3 -1 validated p.T1056 0.000 156 0% 232 43.5% 98 45.9% - - - NULL GMPR2 51292 genome.wustl.edu 37 14 24706767 24706767 + Silent SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016576.3 +1 validated p.F250 1.000 310 0% 457 43.1% 120 55% - - - HMMPfam_IMPDH,superfamily_Inosine monophosphate dehydrogenase (IMPDH) TGM1 7051 genome.wustl.edu 37 14 24731326 24731326 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000359.2 -1 reviewed p.R78Q 0.007 22 0% 31 32.3% 0 - possibly_damaging(0.867) tolerated(0.59) neutral(0.341) superfamily_Ig_E-set RIPK3 11035 genome.wustl.edu 37 14 24805590 24805590 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006871.3 -1 reviewed p.V450I 0.000 66 0% 98 37.8% 11 36.3% benign(0) tolerated(0.94) - NULL NFATC4 4776 genome.wustl.edu 37 14 24845666 24845666 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001136022.1 +1 reviewed p.F804 0.999 94 0% 125 44.8% 4 0% - - - NULL STXBP6 29091 genome.wustl.edu 37 14 25326244 25326244 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014178.6 -1 provisional p.D92N 0.997 205 0% 271 15.5% 125 20% benign(0.082) tolerated(0.2) neutral(0.055) NULL NOVA1 4857 genome.wustl.edu 37 14 26918108 26918108 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002515.2 -1 reviewed p.V194G 1.000 144 0% 181 34.3% 0 - probably_damaging(0.983) deleterious(0) deleterious(0.873) HMMSmart_SM00322,HMMPfam_KH_1,superfamily_Eukaryotic type KH-domain (KH-domain type I) NOVA1 4857 genome.wustl.edu 37 14 27064628 27064628 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002515.2 -1 reviewed p.D90N 1.000 388 0% 453 37.1% 0 - unknown(0) deleterious(0) - HMMSmart_SM00322,HMMPfam_KH_1,superfamily_Eukaryotic type KH-domain (KH-domain type I) PRKD1 5587 genome.wustl.edu 37 14 30100144 30100144 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002742.2 -1 validated p.F492 1.000 241 0% 292 33.9% 4 25% - - - HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 G2E3 55632 genome.wustl.edu 37 14 31050315 31050315 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017769.3 +1 validated p.Q10H 0.986 126 0% 180 37.8% 0 - benign(0.007) deleterious(0.02) neutral(0.383) NULL HECTD1 25831 genome.wustl.edu 37 14 31641083 31641083 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015382.2 -1 validated p.R439I 1.000 284 0% 326 40.2% 8 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat,superfamily_ARM repeat HEATR5A 25938 genome.wustl.edu 37 14 31762726 31762726 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015473.2 -1 validated p.L1683V 0.792 195 0% 232 53.9% 3 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ARM repeat HEATR5A 25938 genome.wustl.edu 37 14 31762758 31762758 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015473.2 -1 validated p.S1672Y 1.000 154 0% 187 36.9% 3 0% benign(0) deleterious(0.03) neutral(0.364) superfamily_ARM repeat ARHGAP5 394 genome.wustl.edu 37 14 32562358 32562358 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001030055.1 +1 reviewed p.R828Q 1.000 80 0% 106 39.6% 9 44.4% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL ARHGAP5 394 genome.wustl.edu 37 14 32624025 32624025 + Silent SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001030055.1 +1 reviewed p.I1460 0.989 110 0% 122 44.3% 19 52.6% - - - NULL AKAP6 9472 genome.wustl.edu 37 14 33293481 33293481 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004274.4 +1 reviewed p.C2154* 0.963 143 0% 220 40% 21 28.5% - - - NULL NPAS3 64067 genome.wustl.edu 37 14 34266669 34266669 + Silent SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_173159.2 +1 reviewed p.P423 0.483 88 0% 121 50.4% 208 43.7% - - - HMMSmart_PAC NPAS3 64067 genome.wustl.edu 37 14 34269091 34269091 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_173159.2 +1 reviewed p.R513 1.000 51 0% 71 45.1% 264 51.1% - - - NULL CFL2 1073 genome.wustl.edu 37 14 35182562 35182562 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_021914.7 -1 reviewed p.S70Y 1.000 259 0% 335 49% 10 30% benign(0) tolerated(1) - HMMPfam_Cofilin_ADF,HMMSmart_SM00102,superfamily_Actin depolymerizing proteins MBIP 51562 genome.wustl.edu 37 14 36783805 36783805 + Nonsense_Mutation SNP G G A rs192945923 by1000genomes TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016586.2 -1 validated p.R162* 0.998 184 0% 246 42.7% 1 100% - - - NULL MIPOL1 145282 genome.wustl.edu 37 14 37739655 37739655 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_138731.5 +1 validated p.E140* 1.000 111 0% 176 39.2% 0 - - - - NULL PNN 5411 genome.wustl.edu 37 14 39650661 39650661 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002687.3 +1 validated p.S583Y 0.993 351 0% 464 43.1% 163 41.7% unknown(0) deleterious(0) - NULL CTAGE5 4253 genome.wustl.edu 37 14 39736714 39736714 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005930.3 +1 validated p.E17D 0.009 33 0% 49 42.9% 1 0% benign(0.315) tolerated(0.26) neutral(0.133) NULL LRFN5 145581 genome.wustl.edu 37 14 42356889 42356889 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152447.3 +1 validated p.A354D 1.000 104 0% 107 50.5% 0 - benign(0.004) deleterious(0.04) neutral(0.349) HMMSmart_IGc2,HMMPfam_I-set,superfamily_SSF48726 LRFN5 145581 genome.wustl.edu 37 14 42360856 42360856 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152447.3 +1 validated p.E597K 1.000 111 0% 148 52% 0 - benign(0.002) tolerated(0.09) neutral(0.296) NULL KLHL28 54813 genome.wustl.edu 37 14 45415035 45415035 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017658.3 -1 validated p.E33K 1.000 90 0% 153 39.9% 13 53.8% probably_damaging(0.999) tolerated(0.25) deleterious(0.527) superfamily_POZ domain,HMMPfam_BTB FAM179B 23116 genome.wustl.edu 37 14 45468622 45468622 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015091.2 +1 validated p.S754P 1.000 293 0% 399 41.1% 3 33.3% benign(0.195) deleterious(0) neutral(0.463) superfamily_ARM repeat FAM179B 23116 genome.wustl.edu 37 14 45478299 45478299 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015091.2 +1 validated p.E1030* 1.000 164 0% 222 13.5% 0 - - - - superfamily_ARM repeat FANCM 57697 genome.wustl.edu 37 14 45665536 45665536 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020937.2 +1 reviewed p.I1834M 0.999 187 0% 254 48.4% 6 50% possibly_damaging(0.466) tolerated(0.19) neutral(0.203) HMMPfam_ERCC4,superfamily_Restriction endonuclease-like MIS18BP1 55320 genome.wustl.edu 37 14 45696021 45696021 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018353.4 -1 validated p.E589* 0.000 306 0% 380 40% 0 - - - - NULL MIS18BP1 55320 genome.wustl.edu 37 14 45715977 45715977 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018353.4 -1 validated p.K171N 0.051 469 0% 586 45.4% 2 50% benign(0.071) deleterious(0.05) neutral(0.350) NULL MDGA2 161357 genome.wustl.edu 37 14 47530477 47530477 + Silent SNP G G A rs137900737 by1000genomes TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001113498.1 -1 validated p.I431 0.996 132 0% 138 42.8% 0 - - - - superfamily_SSF48726 MDGA2 161357 genome.wustl.edu 37 14 47530617 47530617 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001113498.1 -1 validated p.R385W 1.000 147 0% 213 45.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_IGc2,HMMPfam_ig,superfamily_SSF48726 ENSG00000248934 0 genome.wustl.edu 37 14 50089404 50089404 + RNA SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000504161 -1 novel NULL 0.102 23 0% 15 60% 2 100% - - - - NEMF 9147 genome.wustl.edu 37 14 50251811 50251811 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004713.3 -1 validated p.K1024N 1.000 218 0% 283 36% 8 12.5% probably_damaging(1) deleterious(0) deleterious(0.945) NULL NEMF 9147 genome.wustl.edu 37 14 50262519 50262519 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004713.3 -1 validated p.R870Q 0.997 388 0.3% 490 51.8% 2 100% probably_damaging(0.974) deleterious(0.04) deleterious(0.765) NULL NEMF 9147 genome.wustl.edu 37 14 50262615 50262615 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004713.3 -1 validated p.A838V 0.001 646 0% 781 20.5% 2 0% benign(0) tolerated(0.34) neutral(0.023) NULL SOS2 6655 genome.wustl.edu 37 14 50596707 50596707 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006939.2 -1 validated p.I1117 1.000 192 0% 215 41.9% 7 14.2% - - - NULL SOS2 6655 genome.wustl.edu 37 14 50649283 50649283 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006939.2 -1 validated p.E252D 1.000 201 0% 203 47.8% 1 100% benign(0.309) tolerated(0.32) neutral(0.120) HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_DH-domain ATP5S 27109 genome.wustl.edu 37 14 50790814 50790814 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001003803.1 +1 reviewed p.I171 0.993 103 0% 164 43.3% 4 50% - - - superfamily_RNI-like CDKL1 8814 genome.wustl.edu 37 14 50862481 50862481 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004196.3 -1 reviewed p.L37M 1.000 266 0% 306 45.1% 1 0% benign(0.421) tolerated(0.22) neutral(0.179) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase NIN 51199 genome.wustl.edu 37 14 51204874 51204874 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020921.3 -1 reviewed p.S1920Y 0.529 457 0% 591 43.7% 9 55.5% probably_damaging(0.996) deleterious(0.02) deleterious(0.845) NULL TRIM9 114088 genome.wustl.edu 37 14 51475876 51475876 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015163.5 -1 reviewed p.T410A 1.000 169 0% 228 45.2% 1 0% benign(0.017) tolerated(0.21) neutral(0.044) NULL C14orf166 51637 genome.wustl.edu 37 14 52460504 52460504 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016039.2 +1 validated p.L84I 1.000 480 0% 697 50.9% 72 47.2% probably_damaging(1) tolerated(0.16) deleterious(0.559) HMMPfam_RLL NID2 22795 genome.wustl.edu 37 14 52520399 52520399 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_007361.3 -1 validated p.E443* 0.046 122 0% 157 42% 1 0% - - - NULL PTGDR 5729 genome.wustl.edu 37 14 52735026 52735026 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000953.2 +1 reviewed p.A165V 0.978 50 0% 69 42% 0 - probably_damaging(0.99) tolerated(0.4) neutral(0.458) HMMPfam_7tm_1,superfamily_SSF81321 DDHD1 80821 genome.wustl.edu 37 14 53529876 53529876 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_030637.2 -1 validated p.F517L 1.000 106 0% 141 45.4% 5 60% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL DDHD1 80821 genome.wustl.edu 37 14 53619598 53619598 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_030637.2 -1 validated p.D73 0.404 22 0% 28 42.9% 1 100% - - - NULL SAMD4A 23034 genome.wustl.edu 37 14 55168990 55168990 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015589.4 +1 validated p.S135L 1.000 84 0% 96 45.8% 3 0% benign(0.123) tolerated(0.11) neutral(0.282) NULL WDHD1 11169 genome.wustl.edu 37 14 55467296 55467296 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_007086.2 -1 reviewed p.S289 0.791 285 0.4% 428 43.9% 4 50% - - - HMMSmart_WD40,superfamily_WD40_like MAPK1IP1L 93487 genome.wustl.edu 37 14 55529678 55529678 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_144578.3 +1 validated p.M121V 1.000 80 0% 101 39.6% 126 46% benign(0.024) tolerated(0.61) neutral(0.005) NULL DLGAP5 9787 genome.wustl.edu 37 14 55625286 55625286 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014750.4 -1 validated p.F609 1.000 266 0.4% 259 45.9% 3 66.6% - - - NULL KTN1 3895 genome.wustl.edu 37 14 56078896 56078896 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001079521.1 +1 validated p.E44* 1.000 91 0% 133 30.1% 0 - - - - NULL KTN1 3895 genome.wustl.edu 37 14 56106692 56106692 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001079521.1 +1 validated p.R629C 1.000 229 0% 300 41.3% 14 42.8% benign(0.397) deleterious(0.03) deleterious(0.492) NULL PELI2 57161 genome.wustl.edu 37 14 56757108 56757108 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_021255.2 +1 validated p.E210D 1.000 80 0% 131 16.8% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pellino C14orf101 54916 genome.wustl.edu 37 14 57084006 57084006 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017799.3 +1 validated p.F349 1.000 359 0% 457 42% 4 0% - - - NULL C14orf101 54916 genome.wustl.edu 37 14 57114014 57114014 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017799.3 +1 validated p.K641N 1.000 51 0% 73 35.6% 13 53.8% probably_damaging(1) deleterious(0) deleterious(0.945) NULL MUDENG 55745 genome.wustl.edu 37 14 57741393 57741393 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018229.3 +1 validated p.F169S 1.000 84 0% 71 15.5% 4 25% probably_damaging(0.979) deleterious(0.01) deleterious(0.828) NULL ARID4A 5926 genome.wustl.edu 37 14 58831208 58831208 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002892.3 +1 reviewed p.D801Y 1.000 27 0% 32 56.2% 0 - probably_damaging(1) tolerated(0.3) deleterious(0.528) NULL KIAA0586 9786 genome.wustl.edu 37 14 58910702 58910702 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014749.3 +1 validated p.S206A 1.000 72 0% 72 48.6% 2 50% possibly_damaging(0.808) tolerated(0.47) neutral(0.315) NULL KIAA0586 9786 genome.wustl.edu 37 14 58923419 58923419 + Splice_Site SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014749.3 +1 validated e10-1 0.434 158 0% 213 38% 0 - - - - - KIAA0586 9786 genome.wustl.edu 37 14 58953837 58953837 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014749.3 +1 validated p.S1010L 0.995 341 0% 438 44.3% 7 28.5% probably_damaging(0.98) deleterious(0.01) deleterious(0.830) NULL DAAM1 23002 genome.wustl.edu 37 14 59789890 59789890 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014992.1 +1 reviewed p.L241M 1.000 53 0% 60 51.7% 4 75% unknown(0) deleterious(0) - HMMPfam_Drf_FH3 DAAM1 23002 genome.wustl.edu 37 14 59797330 59797330 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014992.1 +1 reviewed p.E495G 1.000 137 0% 184 42.9% 6 0% unknown(0) deleterious(0.01) - NULL JKAMP 51528 genome.wustl.edu 37 14 59953436 59953436 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016475.3 +1 validated p.D4N 1.000 345 0% 379 43% 4 100% probably_damaging(0.954) tolerated(0.07) deleterious(0.717) NULL JKAMP 51528 genome.wustl.edu 37 14 59970724 59970724 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016475.3 +1 validated p.F290L 1.000 292 0% 382 12.6% 12 16.6% probably_damaging(0.998) tolerated(0.08) deleterious(0.774) HMMPfam_DUF766 RTN1 6252 genome.wustl.edu 37 14 60194163 60194163 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_021136.2 -1 reviewed p.I413 0.039 3 0.000 10 0.500 2 100% - - - NULL RTN1 6252 genome.wustl.edu 37 14 60213146 60213146 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_021136.2 -1 reviewed p.D99Y 0.009 31 0% 48 45.8% 1 0% possibly_damaging(0.716) deleterious(0) deleterious(0.704) NULL C14orf135 64430 genome.wustl.edu 37 14 60585059 60585059 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_022495.5 +1 validated p.R297C 0.952 99 0% 145 43.4% 8 37.5% probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL C14orf135 64430 genome.wustl.edu 37 14 60585186 60585186 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_022495.5 +1 validated p.S339Y 0.998 286 0% 388 43.6% 39 53.8% benign(0.08) tolerated(0.11) neutral(0.277) NULL C14orf135 64430 genome.wustl.edu 37 14 60591437 60591437 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_022495.5 +1 validated p.N616H 0.000 11 0% 24 58.3% 16 62.5% benign(0.002) tolerated(0.15) neutral(0.241) NULL PPM1A 5494 genome.wustl.edu 37 14 60712596 60712596 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_177952.2 +1 reviewed p.E11* 0.034 355 0% 398 44% 0 - - - - NULL PPM1A 5494 genome.wustl.edu 37 14 60752349 60752349 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_177952.2 +1 reviewed p.R354Q 1.000 141 0% 182 26.4% 69 18.8% possibly_damaging(0.856) deleterious(0.02) deleterious(0.714) HMMSmart_SM00332,superfamily_Protein serine/threonine phosphatase 2C catalytic domain,HMMPfam_PP2C SIX4 51804 genome.wustl.edu 37 14 61180639 61180639 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017420.4 -1 reviewed p.L611S 0.992 147 0% 164 47% 13 76.9% possibly_damaging(0.722) deleterious(0) deleterious(0.707) NULL PRKCH 5583 genome.wustl.edu 37 14 62014472 62014472 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006255.3 +1 reviewed p.K591N 1.000 53 0% 60 38.3% 17 35.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase HIF1A 3091 genome.wustl.edu 37 14 62187119 62187119 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001530.3 +1 validated p.K19Q 1.000 226 0% 262 34.7% 10 0% possibly_damaging(0.952) deleterious(0) deleterious(0.840) superfamily_HLH helix-loop-helix DNA-binding domain HIF1A 3091 genome.wustl.edu 37 14 62211442 62211442 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001530.3 +1 validated p.E705* 1.000 110 0% 110 49.1% 64 9.3% - - - NULL GPHB5 122876 genome.wustl.edu 37 14 63779831 63779831 + Splice_Site SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_145171.2 -1 validated e2-1 1.000 222 0.5% 320 42.2% 0 - - - - - SYNE2 23224 genome.wustl.edu 37 14 64434460 64434460 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_182914.2 +1 reviewed p.E342* 1.000 225 0% 285 39.3% 1 0% - - - superfamily_Spectrin SYNE2 23224 genome.wustl.edu 37 14 64596828 64596828 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_182914.2 +1 reviewed p.F4734 0.000 201 0% 234 40.2% 2 100% - - - NULL ESR2 2100 genome.wustl.edu 37 14 64716388 64716388 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001437.2 -1 reviewed p.G367 0.996 204 0% 269 39% 0 - probably_damaging(0.989) tolerated(0.11) deleterious(0.711) HMMPfam_Hormone_recep,HMMSmart_SM00430,superfamily_Nuclear receptor ligand-binding domain PPP1R36 145376 genome.wustl.edu 37 14 65053591 65053591 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_172365.1 +1 predicted p.F235L 1.000 343 0.3% 444 45.7% 2 50% possibly_damaging(0.873) tolerated(0.23) neutral(0.381) NULL SPTB 6710 genome.wustl.edu 37 14 65246625 65246625 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001024858.2 -1 reviewed p.R1431* 1.000 81 0% 143 42% 0 - - - - HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_Spectrin GPX2 2877 genome.wustl.edu 37 14 65406338 65406338 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002083.2 -1 reviewed p.R147 1.000 135 0% 203 43.8% 0 - - - - superfamily_Thioredoxin-like FUT8 2530 genome.wustl.edu 37 14 66083023 66083023 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_178154.1 +1 reviewed p.K138N 0.995 110 0% 138 46.4% 1 0% benign(0.148) deleterious(0.05) neutral(0.358) NULL VTI1B 10490 genome.wustl.edu 37 14 68126569 68126569 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006370.2 -1 validated p.R82Q 1.000 153 0% 227 47.1% 175 48.5% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_V-SNARE RDH12 145226 genome.wustl.edu 37 14 68195907 68195907 + Splice_Site SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152443.2 +1 reviewed e6-1 1.000 28 0% 46 15.2% 1 100% - - - - ACTN1 87 genome.wustl.edu 37 14 69352207 69352207 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001130004.1 -1 reviewed p.F440 0.973 103 0% 128 46.9% 245 39.5% - - - HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_Spectrin DCAF5 8816 genome.wustl.edu 37 14 69520589 69520589 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003861.2 -1 validated p.K938N 1.000 57 0% 57 24.6% 3 33.3% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL DCAF5 8816 genome.wustl.edu 37 14 69521610 69521610 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003861.2 -1 validated p.K598T 0.993 302 0% 317 43.2% 36 44.4% benign(0.026) deleterious(0) neutral(0.446) NULL EXD2 55218 genome.wustl.edu 37 14 69701577 69701577 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018199.2 +1 provisional p.R168Q 1.000 198 0% 315 27.3% 10 0% possibly_damaging(0.95) tolerated(0.37) neutral(0.413) NULL ERH 2079 genome.wustl.edu 37 14 69847354 69847354 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004450.2 -1 validated p.Y72 1.000 191 0% 226 42.9% 501 48.9% - - - HMMPfam_ER SRSF5 6430 genome.wustl.edu 37 14 70234964 70234964 + Silent SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001039465.1 +1 validated p.R31 1.000 451 0% 487 46.6% 220 50.4% - - - HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD SMOC1 64093 genome.wustl.edu 37 14 70461161 70461161 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001034852.1 +1 validated p.D210Y 1.000 558 0% 688 47.1% 0 - probably_damaging(0.972) deleterious(0.01) deleterious(0.820) superfamily_Thyroglobulin type-1 domain ADAM21 8747 genome.wustl.edu 37 14 70925033 70925033 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003813.2 +1 reviewed p.E273* 0.002 109 0% 116 31.9% 0 - - - - "HMMPfam_Reprolysin,superfamily_Metalloproteases (""zincins"") catalytic domain" ADAM20 8748 genome.wustl.edu 37 14 70989610 70989610 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003814.4 -1 reviewed p.R672H 0.000 232 0% 332 41% 0 - benign(0.004) tolerated(0.82) neutral(0.001) HMMSmart_SM00608 ADAM20 8748 genome.wustl.edu 37 14 70990657 70990657 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003814.4 -1 reviewed p.D323G 0.000 131 0% 152 38.8% 0 - benign(0.002) tolerated(0.56) neutral(0.006) "HMMPfam_Reprolysin,superfamily_Metalloproteases (""zincins"") catalytic domain" PCNX 22990 genome.wustl.edu 37 14 71444033 71444033 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014982.2 +1 validated p.E327* 1.000 148 0% 124 48.4% 0 - - - - NULL RGS6 9628 genome.wustl.edu 37 14 72921274 72921274 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004296.4 +1 validated p.I75L 0.991 328 0% 406 44.1% 1 0% benign(0.001) deleterious(0.01) neutral(0.406) "HMMPfam_DEP,HMMSmart_SM00049,superfamily_""Winged helix"" DNA-binding domain" DCAF4 26094 genome.wustl.edu 37 14 73409754 73409754 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015604.3 +1 reviewed p.R162* 1.000 124 0% 170 35.3% 5 0% - - - superfamily_WD40 repeat-like PAPLN 89932 genome.wustl.edu 37 14 73718447 73718447 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_173462.3 +1 validated p.A222V 1.000 20 0% 17 47.1% 0 - probably_damaging(0.991) deleterious(0.01) deleterious(0.850) HMMPfam_ADAM_spacer1 PAPLN 89932 genome.wustl.edu 37 14 73731335 73731335 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_173462.3 +1 validated p.R982H 0.014 35 0% 46 43.5% 8 50% benign(0.001) tolerated(0.34) neutral(0.023) NULL ZNF410 57862 genome.wustl.edu 37 14 74371613 74371613 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_021188.1 +1 provisional p.R247H 1.000 92 0% 94 44.7% 33 42.4% probably_damaging(0.99) deleterious(0) deleterious(0.886) superfamily_C2H2 and C2HC zinc fingers ABCD4 5826 genome.wustl.edu 37 14 74764641 74764641 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005050.3 -1 reviewed p.I139 1.000 105 0% 149 42.3% 41 9.7% - - - HMMPfam_ABC_membrane_2,superfamily_ABC_TM_1 KIAA0317 9870 genome.wustl.edu 37 14 75137550 75137550 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001039479.1 -1 validated p.R508Q 1.000 148 0% 204 24.5% 13 7.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain KIAA0317 9870 genome.wustl.edu 37 14 75138187 75138187 + Splice_Site SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001039479.1 -1 validated e10-1 1.000 138 0% 173 46.8% 0 - - - - - KIAA0317 9870 genome.wustl.edu 37 14 75151317 75151317 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001039479.1 -1 validated p.R28H 1.000 73 0% 70 10% 12 16.6% probably_damaging(0.998) deleterious(0.05) deleterious(0.820) NULL YLPM1 56252 genome.wustl.edu 37 14 75302093 75302093 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_019589.2 +1 validated p.L2140 1.000 169 0% 234 19.7% 36 33.3% - - - NULL DLST 1743 genome.wustl.edu 37 14 75357796 75357796 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001933.4 +1 validated p.I123T 1.000 147 0% 175 51.4% 48 41.6% probably_damaging(0.982) deleterious(0) deleterious(0.871) HMMPfam_Biotin_lipoyl,PatternScan_LIPOYL,superfamily_Single hybrid motif DLST 1743 genome.wustl.edu 37 14 75366634 75366634 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001933.4 +1 validated p.D304N 1.000 206 0% 305 43.6% 60 38.3% possibly_damaging(0.914) tolerated(0.16) neutral(0.425) HMMPfam_2-oxoacid_dh,superfamily_CoA-dependent acyltransferases PGF 5228 genome.wustl.edu 37 14 75415216 75415216 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002632.4 -1 validated p.E129G 0.997 48 0% 51 49% 2 0% probably_damaging(0.977) deleterious(0) deleterious(0.863) HMMPfam_PDGF,HMMSmart_SM00141,superfamily_Cystine-knot cytokines MLH3 27030 genome.wustl.edu 37 14 75515074 75515074 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001040108.1 -1 reviewed p.E429* 0.001 162 0% 201 39.8% 0 - - - - NULL ZC2HC1C 79696 genome.wustl.edu 37 14 75544267 75544267 + Nonstop_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024643.2 +1 validated p.*457Y 1.000 100 0% 146 45.9% 2 0% - - - NULL TGFB3 7043 genome.wustl.edu 37 14 76429781 76429781 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003239.2 -1 reviewed p.K268N 1.000 97 0% 162 41.4% 7 42.8% benign(0.341) tolerated(0.12) neutral(0.368) NULL TGFB3 7043 genome.wustl.edu 37 14 76437909 76437909 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003239.2 -1 reviewed p.E169K 1.000 63 0% 109 48.6% 12 25% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TGFb_propeptide IFT43 112752 genome.wustl.edu 37 14 76455293 76455293 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_052873.2 +1 validated p.K40N 0.997 172 0% 179 41.3% 54 44.4% probably_damaging(0.996) tolerated(0.23) deleterious(0.503) NULL C14orf118 55668 genome.wustl.edu 37 14 76638194 76638194 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017926.2 +1 validated p.E246K 1.000 218 0% 260 43.5% 15 53.3% possibly_damaging(0.882) deleterious(0) deleterious(0.789) NULL ANGEL1 23357 genome.wustl.edu 37 14 77269806 77269806 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015305.3 -1 validated p.R509Q 1.000 88 0% 105 18.1% 17 5.8% probably_damaging(1) deleterious(0.05) deleterious(0.845) HMMPfam_Exo_endo_phos,superfamily_Exo_endo_phos C14orf166B 145497 genome.wustl.edu 37 14 77304288 77304288 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_194287.2 +1 validated p.S190F 0.443 269 0% 376 42% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00368,superfamily_RNI-like SAMD15 161394 genome.wustl.edu 37 14 77845047 77845047 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001010860.1 +1 provisional p.K429T 0.001 78 0% 120 45% 0 - probably_damaging(0.991) deleterious(0.04) deleterious(0.793) NULL ALKBH1 8846 genome.wustl.edu 37 14 78161164 78161164 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006020.2 -1 reviewed p.Q124H 1.000 238 0% 308 39.9% 6 16.6% possibly_damaging(0.91) tolerated(0.12) deleterious(0.623) NULL NRXN3 9369 genome.wustl.edu 37 14 79175735 79175735 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004796.4 +1 reviewed p.K93T 1.000 135 0% 154 43.5% 0 - probably_damaging(0.999) tolerated(0.06) deleterious(0.813) superfamily_ConA_like_lec_gl SEL1L 6400 genome.wustl.edu 37 14 81952724 81952724 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005065.4 -1 validated p.G569 0.000 154 0% 235 46.4% 30 20% - - - superfamily_HCP-like KCNK10 54207 genome.wustl.edu 37 14 88693812 88693812 + Silent SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_138317.2 -1 reviewed p.G196 1.000 190 0% 229 40.2% 0 - - - - HMMPfam_Ion_trans_2,superfamily_Voltage-gated potassium channels SPATA7 55812 genome.wustl.edu 37 14 88899489 88899489 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018418.4 +1 reviewed p.L365M 0.998 330 0.3% 370 15.7% 1 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL EML5 161436 genome.wustl.edu 37 14 89083113 89083113 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_183387.2 -1 validated p.F1918S 1.000 117 0% 161 34.2% 0 - probably_damaging(0.998) tolerated(0.48) deleterious(0.485) HMMSmart_SM00320,superfamily_WD40 repeat-like EML5 161436 genome.wustl.edu 37 14 89153590 89153590 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_183387.2 -1 validated p.K942Q 1.000 223 0.4% 230 42.6% 0 - probably_damaging(0.956) tolerated(0.1) deleterious(0.686) superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase EML5 161436 genome.wustl.edu 37 14 89172631 89172631 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_183387.2 -1 validated p.L599 0.955 193 0% 226 33.6% 0 - - - - superfamily_WD40 repeat-like TTC8 123016 genome.wustl.edu 37 14 89336429 89336429 + Silent SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_144596.2 +1 reviewed p.A312 0.865 176 0% 172 45.9% 8 62.5% - - - HMMPfam_TPR_1,HMMSmart_TPR,superfamily_SSF48452 PSMC1 5700 genome.wustl.edu 37 14 90729736 90729736 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002802.2 +1 reviewed p.E77* 1.000 185 0% 197 40.6% 7 0% - - - NULL PSMC1 5700 genome.wustl.edu 37 14 90730437 90730437 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002802.2 +1 reviewed p.V173A 1.000 273 0% 345 43.8% 28 0% benign(0.07) tolerated(0.07) neutral(0.324) NULL TTC7B 145567 genome.wustl.edu 37 14 91121428 91121428 + Silent SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001010854.1 -1 provisional p.K456 0.995 163 0% 263 12.2% 10 30% - - - superfamily_TPR-like RPS6KA5 9252 genome.wustl.edu 37 14 91341579 91341579 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004755.2 -1 validated p.K654N 1.000 195 0% 246 45.5% 2 100% benign(0.001) tolerated(1) - HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase RPS6KA5 9252 genome.wustl.edu 37 14 91356927 91356927 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004755.2 -1 validated p.K580N 1.000 172 0% 261 44.4% 8 50% benign(0.099) tolerated(0.24) neutral(0.045) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase RPS6KA5 9252 genome.wustl.edu 37 14 91467480 91467480 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004755.2 -1 validated p.K43Q 1.000 211 0% 245 50.6% 1 100% possibly_damaging(0.653) deleterious(0) deleterious(0.674) superfamily_Kinase_like C14orf159 80017 genome.wustl.edu 37 14 91636380 91636380 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001102368.1 +1 validated p.F97 0.005 67 0% 88 37.5% 22 54.5% - - - NULL GPR68 8111 genome.wustl.edu 37 14 91700887 91700887 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003485.3 -1 validated p.R180C 0.997 48 0% 43 44.2% 11 27.2% possibly_damaging(0.943) deleterious(0.05) deleterious(0.733) HMMPfam_7tm_1,superfamily_SSF81321 TRIP11 9321 genome.wustl.edu 37 14 92454680 92454680 + Silent SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004239.3 -1 reviewed p.L1736 0.964 291 0% 310 47.7% 5 80% - - - NULL TRIP11 9321 genome.wustl.edu 37 14 92470820 92470820 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004239.3 -1 reviewed p.R1167Q 0.999 120 0% 180 43.9% 6 50% probably_damaging(0.997) tolerated(0.17) deleterious(0.525) NULL TRIP11 9321 genome.wustl.edu 37 14 92506016 92506016 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004239.3 -1 reviewed p.L5R 0.990 66 0% 75 45.3% 3 66.6% unknown(0) deleterious(0.03) - NULL ATXN3 4287 genome.wustl.edu 37 14 92548704 92548704 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004993.5 -1 reviewed p.E239* 1.000 255 0% 401 39.2% 11 0% - - - HMMPfam_UIM,HMMSmart_SM00726 GOLGA5 9950 genome.wustl.edu 37 14 93264045 93264045 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005113.2 +1 reviewed p.S88F 0.221 220 0% 279 43.4% 11 54.5% possibly_damaging(0.908) deleterious(0.02) deleterious(0.744) NULL ITPK1 3705 genome.wustl.edu 37 14 93460273 93460273 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001142593.1 -1 validated p.R106C 1.000 172 0% 228 46.9% 187 47% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ins134_P3_kin,superfamily_Glutathione synthetase ATP-binding domain-like ITPK1 3705 genome.wustl.edu 37 14 93581508 93581508 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001142593.1 -1 validated p.M1V 1.000 66 0% 96 42.7% 16 37.5% possibly_damaging(0.882) deleterious(0) deleterious(0.789) HMMPfam_Ins134_P3_kin MOAP1 64112 genome.wustl.edu 37 14 93649666 93649666 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_022151.4 -1 reviewed p.R308C 0.000 110 0% 115 42.6% 15 53.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL UBR7 55148 genome.wustl.edu 37 14 93678411 93678411 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_175748.3 +1 validated p.N127D 1.000 305 0% 319 49.5% 13 23% probably_damaging(0.998) tolerated(0.06) deleterious(0.797) NULL BTBD7 55727 genome.wustl.edu 37 14 93720017 93720017 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001002860.2 -1 validated p.F576L 1.000 228 0% 282 31.2% 14 42.8% probably_damaging(0.987) deleterious(0.04) deleterious(0.785) NULL FAM181A 90050 genome.wustl.edu 37 14 94391672 94391672 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_138344.3 +1 predicted p.N19H 0.000 117 0% 152 33.6% 0 - benign(0.095) - - NULL ASB2 51676 genome.wustl.edu 37 14 94420691 94420691 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016150.3 -1 reviewed p.Q102H 0.994 59 0% 72 16.7% 2 0% possibly_damaging(0.682) tolerated(0.25) neutral(0.280) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat PPP4R4 57718 genome.wustl.edu 37 14 94703942 94703942 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_058237.1 +1 reviewed p.E258* 1.000 332 0% 412 17.2% 0 - - - - HMMPfam_HEAT,superfamily_ARM repeat SERPINA2 390502 genome.wustl.edu 37 14 94833021 94833021 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000238576 -1 known p.V5 0.001 6 0.000 20 0.450 0 - - - - superfamily_Serpins SERPINA12 145264 genome.wustl.edu 37 14 94956017 94956017 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_173850.2 -1 provisional p.I331 0.734 172 0% 186 40.3% 0 - - - - HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin SERPINA12 145264 genome.wustl.edu 37 14 94962816 94962816 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_173850.2 -1 provisional p.N267H 0.012 210 0% 280 45% 0 - benign(0.007) deleterious(0) neutral(0.445) HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin SERPINA5 5104 genome.wustl.edu 37 14 95057113 95057113 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000624.4 +1 validated p.F306L 1.000 153 0% 130 43.1% 341 59.5% possibly_damaging(0.912) tolerated(0.26) neutral(0.397) HMMPfam_Serpin,HMMSmart_SM00093,superfamily_Serpins DICER1 23405 genome.wustl.edu 37 14 95560357 95560357 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_030621.3 -1 reviewed p.I1744 1.000 183 0% 231 39% 8 50% - - - HMMPfam_Ribonuclease_3,HMMSmart_RIBOc,superfamily_RNase_III DICER1 23405 genome.wustl.edu 37 14 95560476 95560476 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_030621.3 -1 reviewed p.E1705K 1.000 94 0% 119 37.8% 5 40% probably_damaging(0.993) deleterious(0) deleterious(0.895) HMMPfam_Ribonuclease_3,HMMSmart_RIBOc,PatternScan_RNASE_3_1,superfamily_RNase_III DICER1 23405 genome.wustl.edu 37 14 95590887 95590887 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_030621.3 -1 reviewed p.H341P 1.000 189 0% 257 11.7% 1 100% benign(0.273) tolerated(0.06) neutral(0.352) superfamily_SSF52540 CLMN 79789 genome.wustl.edu 37 14 95670090 95670090 + Silent SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024734.3 -1 validated p.T532 0.000 168 0% 210 46.7% 10 50% - - - NULL C14orf49 161176 genome.wustl.edu 37 14 95923561 95923561 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152592.3 -1 validated p.G248W 0.996 73 0% 78 39.7% 2 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00150,superfamily_Spectrin repeat ATG2B 55102 genome.wustl.edu 37 14 96769484 96769484 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018036.5 -1 validated p.R1651* 1.000 203 0% 280 45.7% 0 - - - - NULL ATG2B 55102 genome.wustl.edu 37 14 96788903 96788903 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018036.5 -1 validated p.R904C 1.000 115 0% 169 41.4% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL AK7 122481 genome.wustl.edu 37 14 96922741 96922741 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152327.2 +1 validated p.E386* 0.001 340 0.3% 417 48.7% 6 0% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases PAPOLA 10914 genome.wustl.edu 37 14 97018865 97018865 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032632.3 +1 validated p.D524N 1.000 185 0% 252 11.9% 230 21.3% benign(0.15) tolerated(0.08) neutral(0.313) NULL VRK1 7443 genome.wustl.edu 37 14 97319191 97319191 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003384.2 +1 reviewed p.R133H 1.000 209 0% 219 44.3% 10 50% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Kinase_like EML1 2009 genome.wustl.edu 37 14 100361038 100361038 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001008707.1 +1 reviewed p.S226Y 0.881 263 0% 321 20.2% 7 0% benign(0.115) deleterious(0.01) neutral(0.415) HMMPfam_HELP EML1 2009 genome.wustl.edu 37 14 100406398 100406398 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001008707.1 +1 reviewed p.L818 1.000 91 0% 119 27.7% 16 18.7% - - - HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40 BEGAIN 57596 genome.wustl.edu 37 14 101004654 101004654 + Missense_Mutation SNP C C G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020836.3 -1 validated p.E478D 1.000 4 0.000 15 0.533 1 0% possibly_damaging(0.712) tolerated(0.07) deleterious(0.577) NULL ENSG00000207208 0 genome.wustl.edu 37 14 102269569 102269569 + RNA SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000384479 +1 novel NULL 0.134 16 0% 33 30.3% 0 - - - - - DYNC1H1 1778 genome.wustl.edu 37 14 102446827 102446827 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001376.4 +1 reviewed p.L301M 0.990 129 0% 140 46.4% 4 50% probably_damaging(0.986) tolerated(0.24) deleterious(0.472) HMMPfam_DHC_N1 DYNC1H1 1778 genome.wustl.edu 37 14 102483726 102483726 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001376.4 +1 reviewed p.E2688K 1.000 203 0% 268 42.9% 27 37% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_AAA,HMMPfam_AAA_5,superfamily_SSF52540 WDR20 91833 genome.wustl.edu 37 14 102675122 102675122 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_181291.1 +1 reviewed p.K205N 1.000 58 0% 115 41.7% 4 50% probably_damaging(1) deleterious(0.03) deleterious(0.865) superfamily_WD40_like TECPR2 9895 genome.wustl.edu 37 14 102964031 102964031 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014844.3 +1 validated p.I1352M 0.848 4 0.000 11 0.545 7 28.5% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMPfam_Hyd_WA,HMMSmart_TECPR TRAF3 7187 genome.wustl.edu 37 14 103338304 103338304 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003300.2 +1 reviewed p.K99T 1.000 565 0% 684 40.6% 1 0% possibly_damaging(0.92) deleterious(0.04) deleterious(0.720) superfamily_SSF57850 CDC42BPB 9578 genome.wustl.edu 37 14 103447163 103447163 + Missense_Mutation SNP T T A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006035.3 -1 reviewed p.S363C 1.000 111 0% 174 39.7% 28 46.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_S_TK_X,superfamily_Kinase_like,HMMPfam_Pkinase_C TNFAIP2 7127 genome.wustl.edu 37 14 103596438 103596438 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006291.2 +1 reviewed p.E359K 1.000 20 0% 29 48.3% 274 36.1% probably_damaging(1) tolerated(0.38) deleterious(0.517) HMMPfam_Sec6 MARK3 4140 genome.wustl.edu 37 14 103918266 103918266 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001128918.1 +1 validated p.E120K 1.000 374 0% 422 37.4% 7 28.5% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase MARK3 4140 genome.wustl.edu 37 14 103969264 103969264 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001128918.1 +1 validated p.K654N 0.668 102 0% 123 36.6% 143 48.9% probably_damaging(0.988) deleterious(0) deleterious(0.882) superfamily_Kinase associated domain 1 KA1 KLC1 3831 genome.wustl.edu 37 14 104153528 104153528 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001130107.1 +1 reviewed p.E587 0.990 107 0% 144 45.1% 24 54.1% - - - NULL AKT1 207 genome.wustl.edu 37 14 105237116 105237116 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001014431.1 -1 reviewed p.T443 0.761 211 0% 240 44.2% 645 45.1% - - - HMMSmart_SM00133,HMMPfam_Pkinase_C AHNAK2 113146 genome.wustl.edu 37 14 105407697 105407697 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_138420.2 -1 validated p.S4697 0.000 108 0% 103 45.6% 0 - - - - NULL AHNAK2 113146 genome.wustl.edu 37 14 105408302 105408302 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_138420.2 -1 validated p.D4496N 0.016 203 0% 286 43.7% 26 42.3% probably_damaging(0.959) tolerated(0.12) deleterious(0.663) NULL AHNAK2 113146 genome.wustl.edu 37 14 105409958 105409958 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_138420.2 -1 validated p.K3944Q 0.000 238 0% 315 49.2% 8 37.5% probably_damaging(0.965) tolerated(0.1) deleterious(0.694) NULL AHNAK2 113146 genome.wustl.edu 37 14 105412137 105412137 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_138420.2 -1 validated p.L3217 0.000 93 0% 119 73.9% 4 75% - - - NULL BRF1 2972 genome.wustl.edu 37 14 105685510 105685510 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001519.2 -1 reviewed p.A479 0.001 115 0% 147 44.2% 34 52.9% - - - HMMPfam_BRF1 BRF1 2972 genome.wustl.edu 37 14 105688134 105688134 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001519.2 -1 reviewed p.A389V 0.000 26 0% 24 25% 6 66.6% benign(0.017) tolerated(0.27) neutral(0.034) NULL BTBD6 90135 genome.wustl.edu 37 14 105716459 105716459 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_033271.2 +1 validated p.L228P 1.000 12 0% 17 41.2% 83 45.7% probably_damaging(1) deleterious(0) deleterious(0.945) NULL IGHG2 3501 genome.wustl.edu 37 14 106109615 106109615 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000390545 -1 known p.F302L 0.001 276 0% 340 21.2% 26 0% possibly_damaging(0.74) deleterious(0) deleterious(0.716) PatternScan_IG_MHC,HMMPfam_C1-set,HMMSmart_IGc1,superfamily_SSF48726 IGHM 3507 genome.wustl.edu 37 14 106320807 106320807 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000496208 -1 known p.P334S 0.973 29 0% 48 43.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_C1-set,superfamily_Immunoglobulin IGHV3-9 28451 genome.wustl.edu 37 14 106552354 106552354 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000390600 -1 known p.K95N 0.000 236 0% 330 20% 0 - benign(0.02) tolerated(0.07) neutral(0.320) HMMSmart_SM00406,HMMPfam_V-set,superfamily_Immunoglobulin IGHV1-18 28468 genome.wustl.edu 37 14 106641657 106641657 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000390605 -1 known p.R86I 0.096 358 0% 373 43.2% 0 - probably_damaging(0.993) deleterious(0) deleterious(0.895) HMMSmart_IGv,HMMPfam_V-set,superfamily_SSF48726 IGHV2-26 28455 genome.wustl.edu 37 14 106757725 106757725 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000390611 -1 known p.T94 0.000 252 0% 347 44.1% 0 - - - - HMMSmart_SM00406,HMMPfam_V-set,superfamily_Immunoglobulin IGHV4-39 28394 genome.wustl.edu 37 14 106877868 106877868 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000390619 -1 known p.E42D 0.835 152 0% 209 19.1% 1 0% benign(0.007) tolerated(0.34) neutral(0.023) HMMPfam_V-set,superfamily_Immunoglobulin IGHV7-81 28378 genome.wustl.edu 37 14 107283200 107283200 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000390639 -1 known p.F9L 0.676 317 0% 422 47.2% 0 - probably_damaging(0.968) tolerated(0.05) deleterious(0.755) NULL LOC646096 646096 genome.wustl.edu 37 15 20488798 20488798 + RNA SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XR_040858.2 +1 model NULL 1.000 277 0% 272 22.1% 1 0% - - - - LOC646096 646096 genome.wustl.edu 37 15 20489485 20489485 + RNA SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XR_040858.2 +1 model NULL 0.999 896 0% 1074 16.5% 0 - - - - - ENSG00000229584 0 genome.wustl.edu 37 15 21369356 21369356 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000450252 +1 known p.R4H 1.000 545 0% 709 18.1% 2 0% - - - HMMPfam_DUF663 MKRN3 7681 genome.wustl.edu 37 15 23812037 23812037 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005664.3 +1 reviewed p.L370V 0.977 105 0% 124 44.4% 0 - benign(0.005) deleterious(0) neutral(0.445) superfamily_SSF57850 C15orf2 23742 genome.wustl.edu 37 15 24922928 24922928 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018958.2 +1 reviewed p.L638 0.000 143 0% 171 50.3% 0 - - - - NULL SNRPN 6638 genome.wustl.edu 37 15 25223413 25223413 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003097.3 +1 reviewed p.T211 0.489 166 0% 185 53% 264 89.3% - - - NULL UBE3A 7337 genome.wustl.edu 37 15 25616494 25616494 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000462.2 -1 reviewed p.R279Q 0.994 88 0% 99 42.4% 15 13.3% benign(0.192) tolerated(0.59) neutral(0.022) NULL HERC2 8924 genome.wustl.edu 37 15 28361877 28361877 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004667.4 -1 reviewed p.R4515* 1.000 31 0% 47 36.2% 48 22.9% - - - HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain HERC2 8924 genome.wustl.edu 37 15 28391434 28391434 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004667.4 -1 reviewed p.D3653N 1.000 94 0% 146 43.8% 20 30% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ENSG00000206149 0 genome.wustl.edu 37 15 28882755 28882755 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000382946 +1 known p.R279* 0.998 1017 0% 1159 13.2% 1 0% - - - NULL NDNL2 56160 genome.wustl.edu 37 15 29561319 29561319 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_138704.2 -1 reviewed p.E197D 0.518 79 0% 84 50% 10 60% benign(0.001) tolerated(0.49) neutral(0.011) HMMPfam_MAGE NDNL2 56160 genome.wustl.edu 37 15 29561646 29561646 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_138704.2 -1 reviewed p.K88N 1.000 35 0% 47 42.6% 4 25% probably_damaging(0.999) tolerated(0.19) deleterious(0.540) NULL LOC728498 728498 genome.wustl.edu 37 15 30906033 30906033 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_001724395.2 +1 model p.E477* 1.000 98 0% 157 36.3% 0 - - - - NULL ENSG00000103832 0 genome.wustl.edu 37 15 31089669 31089669 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000220188 +1 known p.R20I 0.999 33 0% 44 45.5% 1 0% - - - NULL FAN1 22909 genome.wustl.edu 37 15 31203041 31203041 + Nonstop_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000441675 +1 known p.*534E 0.000 115 0% 165 47.9% 0 - - - - NULL TRPM1 4308 genome.wustl.edu 37 15 31294999 31294999 + Nonsense_Mutation SNP C C A rs191719470 by1000genomes TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002420.4 -1 reviewed p.E1280* 0.999 113 0% 147 48.3% 0 - - - - NULL TRPM1 4308 genome.wustl.edu 37 15 31319218 31319218 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002420.4 -1 reviewed p.P1110 0.000 146 0% 172 41.3% 0 - - - - NULL CHRNA7 1139 genome.wustl.edu 37 15 32460254 32460254 + Silent SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000746.3 +1 reviewed p.S368 0.989 33 0% 60 20% 0 - - - - HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM ARHGAP11A 9824 genome.wustl.edu 37 15 32928565 32928565 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014783.3 +1 validated p.E531* 0.999 110 0% 187 49.2% 2 50% - - - NULL FMN1 342184 genome.wustl.edu 37 15 33192242 33192242 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001103184.2 -1 validated p.R975W 1.000 202 0% 222 38.7% 4 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00498,HMMPfam_FH2,superfamily_Formin homology 2 domain (FH2 domain) RYR3 6263 genome.wustl.edu 37 15 33603250 33603250 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001036.3 +1 validated p.A2S 1.000 12 0% 35 42.9% 0 - benign(0.002) - - NULL RYR3 6263 genome.wustl.edu 37 15 33822838 33822838 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001036.3 +1 validated p.V109I 0.952 99 0% 183 48.6% 0 - benign(0) - - HMMPfam_Ins145_P3_rec,HMMSmart_SM00472 RYR3 6263 genome.wustl.edu 37 15 33855074 33855074 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001036.3 +1 validated p.D337Y 1.000 174 0% 160 43.8% 0 - probably_damaging(0.996) - - HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMSmart_SM00472 RYR3 6263 genome.wustl.edu 37 15 33941418 33941418 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001036.3 +1 validated p.R1375I 1.000 110 0% 91 53.8% 0 - possibly_damaging(0.918) - - HMMPfam_SPRY,HMMSmart_SM00449 RYR3 6263 genome.wustl.edu 37 15 34040438 34040438 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001036.3 +1 validated p.R2705* 1.000 154 0% 179 40.8% 0 - - - - NULL SLC12A6 9990 genome.wustl.edu 37 15 34553133 34553133 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_133647.1 -1 reviewed p.L135 1.000 208 0% 228 28.5% 0 - - - - NULL SLC12A6 9990 genome.wustl.edu 37 15 34610792 34610792 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005135.2 -1 reviewed p.K30Q 0.808 276 0% 384 40.9% 0 - benign(0.001) tolerated(0.55) neutral(0.007) NULL C15orf55 256646 genome.wustl.edu 37 15 34648692 34648692 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_175741.1 +1 validated p.R800I 0.004 48 0% 37 45.9% 0 - benign(0.006) deleterious(0.03) neutral(0.364) NULL GOLGA8A 23015 genome.wustl.edu 37 15 34678872 34678872 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_181077.3 -1 reviewed p.S80L 0.988 994 0% 1096 27.1% 10 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL ACTC1 70 genome.wustl.edu 37 15 35085599 35085599 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005159.4 -1 reviewed p.E101K 1.000 131 0% 164 41.5% 0 - benign(0.02) - - HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain AQR 9716 genome.wustl.edu 37 15 35224599 35224599 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014691.2 -1 validated p.L274M 1.000 136 0% 174 46.6% 11 54.5% possibly_damaging(0.465) tolerated(0.22) neutral(0.195) NULL ENSG00000248276 0 genome.wustl.edu 37 15 35376928 35376928 + RNA SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000514460 +1 known NULL 0.000 61 0% 68 48.5% 0 - - - - - C15orf53 400359 genome.wustl.edu 37 15 38990364 38990364 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_207444.2 +1 validated p.S53I 0.000 68 0% 61 44.3% 0 - possibly_damaging(0.681) - - NULL PLCB2 5330 genome.wustl.edu 37 15 40589048 40589048 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004573.2 -1 validated p.N462S 1.000 101 0% 135 50.4% 0 - possibly_damaging(0.828) tolerated(0.07) deleterious(0.633) HMMPfam_PI-PLC-X,HMMSmart_SM00148,superfamily_PLC-like phosphodiesterases C15orf52 388115 genome.wustl.edu 37 15 40632159 40632159 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_207380.2 -1 validated p.R68W 1.000 49 0% 68 42.6% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) NULL IVD 3712 genome.wustl.edu 37 15 40702918 40702918 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002225.3 +1 reviewed p.Y126* 0.071 75 0% 96 47.9% 20 20% - - - HMMPfam_Acyl-CoA_dh_N,superfamily_AcylCoA_dehyd_NM BAHD1 22893 genome.wustl.edu 37 15 40750835 40750835 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014952.3 +1 validated p.R58C 1.000 22 0% 59 42.4% 13 46.1% probably_damaging(1) deleterious(0) deleterious(0.945) NULL BAHD1 22893 genome.wustl.edu 37 15 40754307 40754307 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014952.3 +1 validated p.S543 0.041 40 0% 37 40.5% 22 50% - - - NULL CHST14 113189 genome.wustl.edu 37 15 40764524 40764524 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_130468.3 +1 reviewed p.K371R 0.993 85 0% 142 47.9% 56 32.1% benign(0) tolerated(0.38) neutral(0.018) NULL RPUSD2 27079 genome.wustl.edu 37 15 40863814 40863814 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152260.1 +1 provisional p.F206L 1.000 21 0% 19 42.1% 36 38.8% benign(0.02) tolerated(1) neutral(0.001) NULL CASC5 57082 genome.wustl.edu 37 15 40913124 40913124 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_170589.3 +1 validated p.R247I 0.997 66 0% 64 40.6% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL VPS18 57617 genome.wustl.edu 37 15 41191502 41191502 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020857.2 +1 reviewed p.V162 0.000 114 0.9% 177 42.9% 63 28.5% - - - NULL INO80 54617 genome.wustl.edu 37 15 41279307 41279307 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017553.1 -1 reviewed p.E1272K 1.000 144 0% 214 41.1% 8 50% benign(0.226) tolerated(0.05) neutral(0.368) NULL OIP5 11339 genome.wustl.edu 37 15 41624628 41624628 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_007280.1 -1 provisional p.V44 0.995 48 0% 77 32.5% 6 33.3% - - - NULL RTF1 23168 genome.wustl.edu 37 15 41769425 41769425 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015138.4 +1 validated p.E541D 1.000 79 1.3% 110 48.2% 39 33.3% possibly_damaging(0.435) tolerated(0.09) neutral(0.439) NULL TYRO3 7301 genome.wustl.edu 37 15 41854876 41854876 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006293.3 +1 reviewed p.I180 0.996 78 0% 124 24.2% 2 0% - - - HMMSmart_IG,HMMPfam_ig,superfamily_SSF48726 TYRO3 7301 genome.wustl.edu 37 15 41856445 41856445 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006293.3 +1 reviewed p.R215H 0.562 70 0% 77 42.9% 11 54.5% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_IG,superfamily_FN_III-like,superfamily_SSF48726 SPTBN5 51332 genome.wustl.edu 37 15 42153936 42153936 + Silent SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016642.2 -1 validated p.L2543 0.732 12 0% 17 58.8% 1 0% - - - HMMPfam_Spectrin,superfamily_Spectrin repeat EHD4 30844 genome.wustl.edu 37 15 42193140 42193140 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_139265.3 -1 validated p.V443 0.287 27 0% 48 33.3% 105 38% - - - HMMSmart_EH,superfamily_SSF47473 VPS39 23339 genome.wustl.edu 37 15 42455550 42455550 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015289.2 -1 reviewed p.D725Y 1.000 364 0% 529 42.9% 62 40.3% probably_damaging(0.98) deleterious(0.01) deleterious(0.830) NULL GANC 2595 genome.wustl.edu 37 15 42619578 42619578 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_198141.2 +1 reviewed p.D480N 1.000 445 0% 603 40.6% 3 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Glyco_hydro_31,superfamily_(Trans)glycosidases STARD9 57519 genome.wustl.edu 37 15 42976947 42976947 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_001129482.3 +1 model p.K1009N 0.002 158 0% 175 55.4% 0 - benign(0.118) - - NULL STARD9 57519 genome.wustl.edu 37 15 42979062 42979062 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_001129482.3 +1 model p.E1676 1.000 76 0% 80 26.3% 0 - - - - NULL STARD9 57519 genome.wustl.edu 37 15 42979649 42979649 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_001129482.3 +1 model p.S1872I 0.046 105 0% 98 30.6% 0 - possibly_damaging(0.922) - - NULL STARD9 57519 genome.wustl.edu 37 15 42980607 42980607 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_001129482.3 +1 model p.E2191D 0.001 67 0% 95 37.9% 0 - possibly_damaging(0.915) - - NULL UBR1 197131 genome.wustl.edu 37 15 43317044 43317044 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_174916.2 -1 reviewed p.E908K 1.000 258 0.4% 363 43.8% 9 22.2% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL TGM7 116179 genome.wustl.edu 37 15 43577044 43577044 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_052955.2 -1 validated p.E324D 1.000 281 0% 357 42.6% 1 100% probably_damaging(0.979) deleterious(0.03) deleterious(0.786) HMMPfam_Transglut_core,HMMSmart_TGc,superfamily_SSF54001 LCMT2 9836 genome.wustl.edu 37 15 43621258 43621258 + Nonsense_Mutation SNP A A T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014793.3 -1 reviewed p.L477* 0.073 82 0% 111 43.2% 19 36.8% - - - superfamily_Gal_oxid_central ADAL 161823 genome.wustl.edu 37 15 43627963 43627963 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001012969.2 +1 validated p.D45Y 0.998 304 0% 384 10.4% 0 - benign(0) tolerated(0.99) - HMMPfam_A_deaminase,superfamily_SSF51556 MAP1A 4130 genome.wustl.edu 37 15 43816307 43816307 + Missense_Mutation SNP G G A rs192228146 by1000genomes TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002373.5 +1 reviewed p.R879H 1.000 85 0% 115 37.4% 5 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CATSPER2 117155 genome.wustl.edu 37 15 43928269 43928269 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_172095.1 -1 reviewed p.I331L 1.000 147 0% 151 25.2% 2 50% probably_damaging(0.97) tolerated(0.06) deleterious(0.735) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels CASC4 113201 genome.wustl.edu 37 15 44671915 44671915 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_138423.2 +1 reviewed p.S277Y 1.000 270 0% 337 44.8% 29 41.3% probably_damaging(0.974) deleterious(0.03) deleterious(0.780) NULL CTDSPL2 51496 genome.wustl.edu 37 15 44776447 44776447 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016396.2 +1 validated p.R71Q 1.000 179 0% 253 43.5% 2 50% possibly_damaging(0.754) tolerated(0.3) neutral(0.307) NULL TRIM69 140691 genome.wustl.edu 37 15 45047531 45047531 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_182985.3 +1 reviewed p.S147Y 0.992 78 0% 69 49.3% 1 0% benign(0.13) deleterious(0.01) neutral(0.417) NULL C15orf43 145645 genome.wustl.edu 37 15 45270718 45270718 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152448.1 +1 predicted p.F185 1.000 157 0% 168 45.2% 0 - - - - NULL GATM 2628 genome.wustl.edu 37 15 45658643 45658643 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001482.2 -1 reviewed p.T247A 0.998 161 0% 186 40.3% 1 0% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_Amidinotransf,superfamily_Pentein HMGN2P46 283651 genome.wustl.edu 37 15 45847973 45847973 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000313559 +1 known p.S108N 0.501 76 0% 107 51.4% 0 - - - - NULL PLDN 26258 genome.wustl.edu 37 15 45884365 45884365 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_012388.2 +1 reviewed p.I39V 0.006 379 0.3% 407 42.3% 6 50% benign(0) tolerated(1) - NULL SEMA6D 80031 genome.wustl.edu 37 15 48063261 48063261 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_153618.1 +1 reviewed p.T834I 0.994 140 0% 188 11.2% 0 - probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL SEMA6D 80031 genome.wustl.edu 37 15 48063375 48063375 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_153618.1 +1 reviewed p.S872Y 1.000 90 0% 127 48% 0 - possibly_damaging(0.867) deleterious(0.01) deleterious(0.742) NULL SLC12A1 6557 genome.wustl.edu 37 15 48580634 48580634 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000338.2 +1 reviewed p.L932I 1.000 155 0.6% 200 42% 0 - benign(0.005) tolerated(0.28) neutral(0.032) NULL SHC4 399694 genome.wustl.edu 37 15 49143403 49143403 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_203349.3 -1 validated p.E429* 0.999 323 0% 383 38.4% 0 - - - - NULL SECISBP2L 9728 genome.wustl.edu 37 15 49284841 49284841 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014701.2 -1 provisional p.R924Q 1.000 180 0% 237 42.6% 20 35% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL C15orf33 196951 genome.wustl.edu 37 15 49623995 49623995 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152647.2 -1 validated p.E467 0.309 223 0% 293 38.2% 2 0% - - - NULL DTWD1 56986 genome.wustl.edu 37 15 49917404 49917404 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001144955.1 +1 validated p.E14* 0.710 128 0% 168 23.2% 3 0% - - - NULL ATP8B4 79895 genome.wustl.edu 37 15 50158640 50158640 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024837.2 -1 validated p.V1023 0.989 144 0% 174 23% 0 - - - - superfamily_SSF81665 ATP8B4 79895 genome.wustl.edu 37 15 50223383 50223383 + Silent SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024837.2 -1 validated p.T525 0.000 332 0% 396 41.9% 1 0% - - - superfamily_SSF56784,superfamily_SSF81660,superfamily_SSF81665 ATP8B4 79895 genome.wustl.edu 37 15 50226348 50226348 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024837.2 -1 validated p.S440Y 0.006 231 0% 260 47.7% 0 - benign(0.023) deleterious(0.03) neutral(0.365) superfamily_SSF56784,superfamily_SSF81660,superfamily_SSF81665 TRPM7 54822 genome.wustl.edu 37 15 50853894 50853894 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017672.4 -1 reviewed p.S1860Y 1.000 141 0% 175 29.7% 2 0% possibly_damaging(0.648) deleterious(0) deleterious(0.672) NULL AP4E1 23431 genome.wustl.edu 37 15 51223004 51223004 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_007347.3 +1 validated p.E235D 1.000 205 0% 273 39.6% 0 - benign(0.352) tolerated(0.33) neutral(0.136) HMMPfam_Adaptin_N,superfamily_ARM-type_fold AP4E1 23431 genome.wustl.edu 37 15 51233688 51233688 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_007347.3 +1 validated p.S331 0.504 594 0.3% 711 43% 1 100% - - - HMMPfam_Adaptin_N,superfamily_ARM-type_fold CYP19A1 1588 genome.wustl.edu 37 15 51520007 51520007 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000103.3 -1 reviewed p.L140 0.863 229 0.4% 239 23.4% 0 - - - - HMMPfam_p450,superfamily_Cytochrome_P450 GLDN 342035 genome.wustl.edu 37 15 51696627 51696627 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_181789.2 +1 validated p.G444 1.000 139 0% 243 43.6% 4 0% - - - HMMPfam_OLF,HMMSmart_SM00284 GLDN 342035 genome.wustl.edu 37 15 51696869 51696869 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_181789.2 +1 validated p.R525I 1.000 49 0% 108 38.9% 0 - possibly_damaging(0.914) deleterious(0) deleterious(0.810) HMMPfam_OLF,HMMSmart_SM00284 DMXL2 23312 genome.wustl.edu 37 15 51792045 51792045 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015263.3 -1 validated p.D1126N 1.000 113 0% 162 42% 0 - possibly_damaging(0.76) tolerated(0.41) neutral(0.296) NULL DMXL2 23312 genome.wustl.edu 37 15 51809350 51809350 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015263.3 -1 validated p.E817D 1.000 203 0% 255 40.8% 0 - probably_damaging(0.997) tolerated(0.89) neutral(0.466) NULL SCG3 29106 genome.wustl.edu 37 15 51980524 51980524 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_013243.3 +1 reviewed p.I155 0.974 170 0% 253 46.2% 0 - - - - NULL LEO1 123169 genome.wustl.edu 37 15 52245325 52245325 + Splice_Site SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_138792.2 -1 provisional e8+1 1.000 148 0% 176 39.2% 0 - - - - - LEO1 123169 genome.wustl.edu 37 15 52257946 52257946 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_138792.2 -1 provisional p.E272K 1.000 194 0% 225 35.6% 22 31.8% benign(0.4) tolerated(0.27) neutral(0.162) NULL MAPK6 5597 genome.wustl.edu 37 15 52356227 52356227 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002748.3 +1 reviewed p.R399Q 1.000 200 0% 309 45% 26 42.3% probably_damaging(0.994) deleterious(0) deleterious(0.897) NULL MYO5A 4644 genome.wustl.edu 37 15 52620132 52620132 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000259.3 -1 reviewed p.R1518* 0.991 287 0% 403 41.7% 2 0% - - - NULL ARPP19 10776 genome.wustl.edu 37 15 52844297 52844297 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006628.4 -1 validated p.K58T 1.000 423 0% 594 42.9% 25 56% probably_damaging(0.99) deleterious(0.05) deleterious(0.787) HMMPfam_Endosulfine FAM214A 56204 genome.wustl.edu 37 15 52885909 52885909 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_019600.2 -1 validated p.D892N 1.000 76 0% 118 45.8% 29 41.3% probably_damaging(0.979) deleterious(0.04) deleterious(0.771) NULL WDR72 256764 genome.wustl.edu 37 15 53908282 53908282 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_182758.2 -1 validated p.F707L 0.023 151 0.7% 219 14.2% 3 0% benign(0.005) tolerated(0.79) neutral(0.001) NULL UNC13C 440279 genome.wustl.edu 37 15 54305121 54305121 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001080534.1 +1 provisional p.K7N 1.000 115 0% 138 29.7% 0 - possibly_damaging(0.736) deleterious(0) deleterious(0.714) NULL UNC13C 440279 genome.wustl.edu 37 15 54305923 54305923 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001080534.1 +1 provisional p.D275N 1.000 88 0% 89 43.8% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL RAB27A 5873 genome.wustl.edu 37 15 55497737 55497737 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004580.3 -1 reviewed p.E212* 0.886 472 0% 607 44.3% 14 50% - - - HMMSmart_SM00176,superfamily_P-loop containing nucleoside triphosphate hydrolases PIGB 9488 genome.wustl.edu 37 15 55647093 55647093 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004855.4 +1 reviewed p.N479H 0.551 187 0% 272 26.8% 16 25% benign(0.364) tolerated(0.08) neutral(0.416) NULL DYX1C1 161582 genome.wustl.edu 37 15 55759317 55759317 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_130810.2 -1 reviewed p.N150D 1.000 555 0% 600 40.5% 0 - possibly_damaging(0.608) tolerated(0.51) neutral(0.220) NULL PYGO1 26108 genome.wustl.edu 37 15 55838836 55838836 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015617.1 -1 provisional p.P215 0.044 130 0% 177 46.9% 0 - - - - NULL PRTG 283659 genome.wustl.edu 37 15 56032579 56032579 + Splice_Site SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_173814.4 -1 validated e2+1 1.000 178 0% 176 39.8% 0 - - - - - NEDD4 4734 genome.wustl.edu 37 15 56208154 56208154 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000503468 -1 known p.L172I 0.991 193 0% 219 42.9% 0 - - - - NULL RFX7 64864 genome.wustl.edu 37 15 56390309 56390309 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_022841.5 -1 validated p.I359 0.810 175 0% 221 38% 2 50% - - - NULL MNS1 55329 genome.wustl.edu 37 15 56726442 56726442 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018365.2 -1 reviewed p.R388Q 1.000 469 0% 572 50.7% 2 50% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL ZNF280D 54816 genome.wustl.edu 37 15 56959174 56959174 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017661.2 -1 validated p.R519Q 1.000 169 0% 208 14.4% 2 100% probably_damaging(0.996) tolerated(0.18) deleterious(0.518) NULL ZNF280D 54816 genome.wustl.edu 37 15 56981336 56981336 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017661.2 -1 validated p.S228* 0.997 225 0% 224 38.4% 1 0% - - - NULL LIPC 3990 genome.wustl.edu 37 15 58830612 58830612 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000236.2 +1 reviewed p.E57K 0.000 192 0% 218 50% 0 - benign(0.313) tolerated(0.15) neutral(0.339) HMMPfam_Lipase,superfamily_alpha/beta-Hydrolases HSP90AB4P 664618 genome.wustl.edu 37 15 58984584 58984584 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000380522 -1 known p.E247D 1.000 61 0% 72 27.8% 1 0% - - - HMMPfam_HSP90 RNF111 54778 genome.wustl.edu 37 15 59323816 59323816 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017610.6 +1 reviewed p.S265 0.993 183 0% 199 41.7% 5 80% - - - NULL LOC100130107 100130107 genome.wustl.edu 37 15 60061088 60061088 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_001719310.2 -1 model p.V53 1.000 16 0% 25 44% 74 0% - - - NULL VPS13C 54832 genome.wustl.edu 37 15 62221754 62221754 + Nonsense_Mutation SNP C C A rs191791132 TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020821.1 -1 validated p.E2078* 0.986 293 0% 396 41.2% 1 0% - - - NULL TPM1 7168 genome.wustl.edu 37 15 63353922 63353922 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001018004.1 +1 reviewed p.E192K 1.000 207 0.5% 259 42.1% 22 4.5% benign(0) deleterious(0) neutral(0.445) HMMPfam_Tropomyosin USP3 9960 genome.wustl.edu 37 15 63880583 63880583 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006537.2 +1 validated p.Q392H 0.979 227 0% 280 43.9% 2 50% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_UCH,superfamily_SSF54001 KIAA0101 9768 genome.wustl.edu 37 15 64669028 64669028 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014736.4 -1 validated p.F68L 1.000 157 0% 184 12% 10 10% benign(0.41) deleterious(0) deleterious(0.577) NULL ZNF609 23060 genome.wustl.edu 37 15 64792408 64792408 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000416172 +1 known p.E264* 0.995 45 0% 38 26.3% 0 - - - - NULL MIR1272 100302184 genome.wustl.edu 37 15 65054679 65054679 + RNA SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000408106 -1 known NULL 0.000 214 0% 254 46.1% 0 - - - - - CILP 8483 genome.wustl.edu 37 15 65489863 65489863 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003613.3 -1 reviewed p.R921* 0.985 151 0% 184 40.2% 4 0% - - - NULL DPP8 54878 genome.wustl.edu 37 15 65793069 65793069 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_197960.2 -1 reviewed p.E157* 1.000 363 0% 502 47% 1 0% - - - superfamily_Dipeptidyl peptidase IV/CD26 N-terminal domain SLC24A1 9187 genome.wustl.edu 37 15 65917163 65917163 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004727.2 +1 validated p.L249I 0.001 180 0.6% 221 16.3% 4 50% unknown(0) deleterious(0) - NULL SLC24A1 9187 genome.wustl.edu 37 15 65945080 65945080 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004727.2 +1 validated p.R995Q 1.000 260 0% 380 40% 12 25% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Na_Ca_ex DENND4A 10260 genome.wustl.edu 37 15 65994168 65994168 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001144823.1 -1 validated p.R831* 0.955 169 0% 250 48% 1 0% - - - HMMPfam_PPR TIPIN 54962 genome.wustl.edu 37 15 66641443 66641443 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017858.2 -1 validated p.R144* 1.000 304 0% 319 40.4% 3 0% - - - HMMPfam_Swi3 IQCH 64799 genome.wustl.edu 37 15 67664594 67664594 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001031715.2 +1 validated p.S300Y 0.848 299 0% 360 44.2% 1 0% probably_damaging(0.997) deleterious(0.03) deleterious(0.831) NULL CALML4 91860 genome.wustl.edu 37 15 68486442 68486442 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_033429.2 -1 validated p.L168I 1.000 204 0% 268 17.9% 75 13.3% possibly_damaging(0.72) tolerated(0.15) deleterious(0.502) HMMSmart_SM00054,superfamily_EF-hand ANP32A 8125 genome.wustl.edu 37 15 69113064 69113064 + Silent SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006305.3 -1 validated p.L9 1.000 203 0% 228 43.9% 82 60.9% - - - superfamily_SSF52058 UACA 55075 genome.wustl.edu 37 15 70991968 70991968 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018003.2 -1 validated p.R37Q 1.000 444 0.5% 541 40.7% 5 40% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_ANK,superfamily_ANK LRRC49 54839 genome.wustl.edu 37 15 71302170 71302170 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017691.2 +1 validated p.L478I 0.996 175 0% 223 42.2% 8 50% possibly_damaging(0.694) tolerated(1) neutral(0.249) NULL MYO9A 4649 genome.wustl.edu 37 15 72142482 72142482 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006901.2 -1 validated p.R2203Q 1.000 240 0% 299 47.2% 7 42.8% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP MYO9A 4649 genome.wustl.edu 37 15 72191194 72191194 + Missense_Mutation SNP C C T rs193029114 by1000genomes TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006901.2 -1 validated p.R1217Q 0.993 284 0% 367 46.3% 0 - possibly_damaging(0.67) deleterious(0.03) deleterious(0.602) NULL MYO9A 4649 genome.wustl.edu 37 15 72227737 72227737 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006901.2 -1 validated p.I823L 0.991 211 0% 305 42.3% 1 0% benign(0.001) tolerated(0.35) neutral(0.021) HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases ADPGK 83440 genome.wustl.edu 37 15 73044594 73044594 + RNA SNP C C A rs148487929 by1000genomes TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NR_023318.1 -1 validated NULL 1.000 17 0% 38 31.6% 6 16.6% - - - - ADPGK 83440 genome.wustl.edu 37 15 73044753 73044753 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_031284.4 -1 validated p.R474* 0.996 92 0% 112 40.2% 24 50% - - - HMMPfam_ADP_PFK_GK,superfamily_SSF53613 NEO1 4756 genome.wustl.edu 37 15 73594994 73594994 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002499.3 +1 validated p.L1448P 1.000 153 1.3% 224 46.9% 24 37.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Neogenin_C PML 5371 genome.wustl.edu 37 15 74325601 74325601 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_033238.2 +1 reviewed p.L501F 0.001 62 0% 89 31.5% 85 23.5% possibly_damaging(0.906) deleterious(0) deleterious(0.804) NULL CYP1A2 1544 genome.wustl.edu 37 15 75047335 75047335 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000761.3 +1 reviewed p.G486V 0.994 37 0% 60 56.7% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_p450,superfamily_Cytochrome_P450 LMAN1L 79748 genome.wustl.edu 37 15 75113457 75113457 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_021819.2 +1 validated p.R317C 0.015 57 0% 48 45.8% 0 - probably_damaging(0.967) deleterious(0.01) deleterious(0.815) NULL NEIL1 79661 genome.wustl.edu 37 15 75641330 75641330 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024608.2 +1 validated p.E28D 1.000 16 0% 15 60% 5 20% possibly_damaging(0.716) tolerated(0.27) neutral(0.292) superfamily_N-terminal domain of MutM-like DNA repair proteins MAN2C1 4123 genome.wustl.edu 37 15 75648764 75648764 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006715.2 -1 validated p.Q922K 0.990 21 0% 28 32.1% 57 42.1% benign(0.022) tolerated(0.56) neutral(0.007) HMMPfam_Glyco_hydro_38C SNUPN 10073 genome.wustl.edu 37 15 75913312 75913312 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001042581.1 -1 reviewed p.R27 1.000 177 0% 211 25.6% 21 42.8% - - - NULL CSPG4 1464 genome.wustl.edu 37 15 75969493 75969493 + Silent SNP G G A rs150424346 by1000genomes TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001897.4 -1 reviewed p.G1789 0.002 15 0% 16 68.8% 5 0% - - - NULL FBXO22 26263 genome.wustl.edu 37 15 76205550 76205550 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_147188.1 +1 reviewed p.R96C 0.718 200 0% 166 43.4% 32 31.2% probably_damaging(0.997) tolerated(0.17) deleterious(0.525) NULL FBXO22 26263 genome.wustl.edu 37 15 76209598 76209598 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_147188.1 +1 reviewed p.R164Q 1.000 171 0% 203 42.4% 8 37.5% benign(0.014) tolerated(0.51) neutral(0.009) NULL C15orf27 123591 genome.wustl.edu 37 15 76449075 76449075 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152335.2 +1 validated p.L120I 1.000 258 0% 299 41.8% 0 - probably_damaging(0.995) tolerated(0.07) deleterious(0.776) NULL SCAPER 49855 genome.wustl.edu 37 15 76643604 76643604 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020843.2 -1 validated p.A1357V 0.002 290 0.3% 364 37.9% 4 25% benign(0) tolerated(0.38) neutral(0.018) NULL SCAPER 49855 genome.wustl.edu 37 15 77057340 77057340 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020843.2 -1 validated p.E562K 1.000 343 0% 458 25.1% 1 100% possibly_damaging(0.719) tolerated(0.1) deleterious(0.547) NULL SCAPER 49855 genome.wustl.edu 37 15 77092596 77092596 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020843.2 -1 validated p.N201H 1.000 387 0.3% 423 23.2% 2 0% probably_damaging(0.993) deleterious(0.04) deleterious(0.799) NULL PSTPIP1 9051 genome.wustl.edu 37 15 77310518 77310518 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003978.3 +1 reviewed p.Y22 0.969 80 0% 106 42.5% 1 0% - - - HMMPfam_FCH,HMMSmart_SM00055,superfamily_Prismane protein-like SGK269 79834 genome.wustl.edu 37 15 77425854 77425854 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024776.2 -1 validated p.I1190 0.889 181 0% 214 42.5% 5 20% - - - NULL HMG20A 10363 genome.wustl.edu 37 15 77759488 77759488 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018200.2 +1 provisional p.L97I 1.000 121 0% 175 11.4% 8 0% possibly_damaging(0.943) tolerated(0.44) neutral(0.400) superfamily_HMG-box TBC1D2B 23102 genome.wustl.edu 37 15 78317622 78317622 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_144572.1 -1 validated p.K355N 0.732 99 0% 112 34.8% 3 0% possibly_damaging(0.444) tolerated(0.39) neutral(0.161) NULL SH2D7 646892 genome.wustl.edu 37 15 78393393 78393393 + Silent SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001101404.1 +1 provisional p.P266 0.000 40 0% 38 44.7% 0 - - - - NULL IDH3A 3419 genome.wustl.edu 37 15 78455907 78455907 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005530.2 +1 reviewed p.D224Y 1.000 359 0% 393 40.2% 12 75% probably_damaging(0.958) deleterious(0) deleterious(0.846) HMMPfam_Iso_dh,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like WDR61 80349 genome.wustl.edu 37 15 78577679 78577679 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_025234.1 -1 provisional p.S251L 1.000 163 0% 179 46.9% 132 33.3% benign(0.402) deleterious(0) deleterious(0.574) HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40 IREB2 3658 genome.wustl.edu 37 15 78781040 78781040 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004136.2 +1 validated p.R668Q 0.998 186 0% 227 46.7% 0 - probably_damaging(1) tolerated(0.4) deleterious(0.516) superfamily_Aconitase iron-sulfur domain IREB2 3658 genome.wustl.edu 37 15 78781054 78781054 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004136.2 +1 validated p.R673* 0.042 191 0% 226 42.9% 0 - - - - superfamily_Aconitase iron-sulfur domain IREB2 3658 genome.wustl.edu 37 15 78786285 78786285 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004136.2 +1 validated p.R787* 1.000 225 0% 267 48.7% 1 0% - - - HMMPfam_Aconitase_C,superfamily_Aconitase CHRNA3 1136 genome.wustl.edu 37 15 78894396 78894396 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000743.4 -1 reviewed p.M196I 1.000 227 0% 324 46% 1 0% benign(0.001) tolerated(0.78) neutral(0.001) HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like KIAA1024 23251 genome.wustl.edu 37 15 79748826 79748826 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015206.2 +1 validated p.R113C 0.005 63 0% 80 43.8% 0 - probably_damaging(0.983) deleterious(0.03) deleterious(0.793) NULL KIAA1024 23251 genome.wustl.edu 37 15 79749330 79749330 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015206.2 +1 validated p.A281S 0.382 141 0% 167 37.1% 1 0% benign(0.235) tolerated(0.23) neutral(0.065) NULL KIAA1024 23251 genome.wustl.edu 37 15 79750035 79750035 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015206.2 +1 validated p.D516N 1.000 51 0% 67 46.3% 2 100% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL ARNT2 9915 genome.wustl.edu 37 15 80750279 80750279 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014862.3 +1 reviewed p.F52 0.725 431 0% 518 26.6% 4 25% - - - NULL IL16 3603 genome.wustl.edu 37 15 81598271 81598271 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_172217.3 +1 reviewed p.G1148E 1.000 91 0% 85 49.4% 7 14.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like TMC3 342125 genome.wustl.edu 37 15 81637211 81637211 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001080532.1 -1 provisional p.E472* 0.002 267 0.7% 386 45.1% 0 - - - - NULL TMC3 342125 genome.wustl.edu 37 15 81638738 81638738 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001080532.1 -1 provisional p.L414F 1.000 226 0% 303 47.2% 0 - probably_damaging(1) tolerated(0.12) deleterious(0.760) NULL TMC3 342125 genome.wustl.edu 37 15 81644068 81644068 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001080532.1 -1 provisional p.S350 0.327 89 0% 142 47.9% 0 - - - - NULL MEX3B 84206 genome.wustl.edu 37 15 82336227 82336227 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032246.3 -1 provisional p.A328 0.998 36 0% 44 36.4% 2 50% - - - NULL CPEB1 64506 genome.wustl.edu 37 15 83215243 83215243 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_030594.3 -1 reviewed p.S508F 1.000 70 0% 92 47.8% 0 - probably_damaging(0.965) deleterious(0.03) deleterious(0.771) NULL AP3B2 8120 genome.wustl.edu 37 15 83332639 83332639 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004644.3 -1 validated p.D765N 0.011 58 0% 81 48.1% 0 - unknown(0) tolerated(0.32) - NULL AP3B2 8120 genome.wustl.edu 37 15 83335625 83335625 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004644.3 -1 validated p.R576C 1.000 46 0% 81 49.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Adaptin_N,superfamily_ARM-type_fold FSD2 123722 genome.wustl.edu 37 15 83456129 83456129 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001007122.2 -1 provisional p.S5L 0.002 86 0% 138 47.8% 0 - benign(0.055) tolerated(0.05) neutral(0.349) NULL BNC1 646 genome.wustl.edu 37 15 83926719 83926719 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001717.3 -1 reviewed p.I820 1.000 171 0% 237 48.1% 0 - - - - NULL ADAMTSL3 57188 genome.wustl.edu 37 15 84442378 84442378 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_207517.2 +1 validated p.S98Y 1.000 268 0% 368 42.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat ADAMTSL3 57188 genome.wustl.edu 37 15 84651865 84651865 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_207517.2 +1 validated p.S1162L 0.000 26 0% 34 35.3% 1 0% benign(0) tolerated(0.2) neutral(0.049) NULL ADAMTSL3 57188 genome.wustl.edu 37 15 84683462 84683462 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_207517.2 +1 validated p.V1381A 0.000 217 0% 302 45.4% 0 - benign(0.066) tolerated(0.8) neutral(0.005) HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin ZSCAN2 54993 genome.wustl.edu 37 15 85147424 85147424 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_181877.3 +1 reviewed p.R89I 1.000 33 0% 50 42% 5 40% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_SCAN,HMMSmart_SM00431 ALPK3 57538 genome.wustl.edu 37 15 85370821 85370821 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020778.4 +1 validated p.T299A 1.000 55 0% 82 43.9% 0 - possibly_damaging(0.791) deleterious(0.03) deleterious(0.661) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin ALPK3 57538 genome.wustl.edu 37 15 85405942 85405942 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020778.4 +1 validated p.L1604 1.000 119 0% 153 12.4% 1 0% - - - HMMPfam_Alpha_kinase,superfamily_Protein kinase-like (PK-like) AGBL1 123624 genome.wustl.edu 37 15 87217525 87217525 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152336.2 +1 validated p.E981* 0.808 79 0% 99 35.4% 0 - - - - HMMPfam_Peptidase_M14 NTRK3 4916 genome.wustl.edu 37 15 88678345 88678345 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001012338.1 -1 reviewed p.K397N 0.999 388 0% 579 22.5% 0 - benign(0.026) tolerated(0.32) neutral(0.025) superfamily_Immunoglobulin DET1 55070 genome.wustl.edu 37 15 89070971 89070971 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017996.3 -1 validated p.A388D 1.000 149 0% 148 43.9% 2 0% probably_damaging(0.995) deleterious(0.04) deleterious(0.806) HMMPfam_Det1 DET1 55070 genome.wustl.edu 37 15 89073948 89073948 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017996.3 -1 validated p.R341Q 1.000 51 0% 66 40.9% 1 0% probably_damaging(1) tolerated(0.19) deleterious(0.549) HMMPfam_Det1 ACAN 176 genome.wustl.edu 37 15 89402035 89402035 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_013227.3 +1 reviewed p.V1958 0.528 63 0% 97 35.1% 0 - - - - NULL ABHD2 11057 genome.wustl.edu 37 15 89694986 89694986 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_007011.7 +1 reviewed p.S91 0.241 155 0% 192 45.8% 49 42.8% - - - NULL RLBP1 6017 genome.wustl.edu 37 15 89760402 89760402 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000326.4 -1 reviewed p.F99L 1.000 37 0% 49 28.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_CRAL_TRIO_N,superfamily_CRAL/TRIO N-terminal domain RHCG 51458 genome.wustl.edu 37 15 90021067 90021067 + Splice_Site SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016321.1 -1 provisional e6+1 1.000 63 0% 82 41.5% 0 - - - - - RHCG 51458 genome.wustl.edu 37 15 90039635 90039635 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016321.1 -1 provisional p.K47N 0.000 52 0% 64 50% 4 75% benign(0.001) tolerated(0.57) neutral(0.006) HMMPfam_Ammonium_transp C15orf42 90381 genome.wustl.edu 37 15 90143870 90143870 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152259.3 +1 validated p.R703* 0.988 120 0% 139 45.3% 0 - - - - NULL C15orf42 90381 genome.wustl.edu 37 15 90144780 90144780 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152259.3 +1 validated p.L770M 1.000 462 0% 584 40.1% 0 - probably_damaging(0.97) tolerated(0.24) neutral(0.450) NULL PLIN1 5346 genome.wustl.edu 37 15 90212875 90212875 + Missense_Mutation SNP C C A rs8179041 byCluster TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001145311.1 -1 reviewed p.Q209H 0.884 65 0% 75 49.3% 0 - possibly_damaging(0.823) tolerated(0.54) neutral(0.319) HMMPfam_Perilipin ZNF710 374655 genome.wustl.edu 37 15 90611566 90611566 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_198526.2 +1 validated p.V399 0.995 26 0% 36 61.1% 20 30% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 SEMA4B 10509 genome.wustl.edu 37 15 90760699 90760699 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020210.3 +1 validated p.F62 0.997 80 0% 100 40% 33 57.5% - - - superfamily_Sema domain CIB1 10519 genome.wustl.edu 37 15 90775471 90775471 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006384.3 -1 validated p.L59I 1.000 98 1% 123 49.6% 389 47.8% benign(0) tolerated(0.5) neutral(0.010) superfamily_EF-hand LOC728477 728477 genome.wustl.edu 37 15 90837731 90837731 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_002343383.1 +1 model p.S170Y 0.004 15 0% 17 35.3% 0 - - - - NULL IQGAP1 8826 genome.wustl.edu 37 15 91025453 91025453 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003870.3 +1 reviewed p.K1165N 0.988 181 0.6% 241 22.4% 165 26% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_RasGAP,HMMSmart_SM00323,superfamily_GTPase activation domain GAP BLM 641 genome.wustl.edu 37 15 91358383 91358383 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000057.2 +1 reviewed p.I1376 0.000 122 0% 166 43.4% 10 20% - - - NULL BLM 641 genome.wustl.edu 37 15 91358442 91358442 + Nonsense_Mutation SNP T T A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000057.2 +1 reviewed p.L1396* 0.994 169 0% 210 43.3% 7 14.2% - - - NULL MAN2A2 4122 genome.wustl.edu 37 15 91449982 91449982 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006122.2 +1 validated p.R283H 1.000 43 0% 63 38.1% 58 39.6% possibly_damaging(0.933) tolerated(0.09) deleterious(0.675) HMMPfam_Glyco_hydro_38,superfamily_Glyco_hydro/deAcase_b/a-brl VPS33B 26276 genome.wustl.edu 37 15 91553038 91553038 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018668.3 -1 reviewed p.I132 1.000 399 0% 440 45% 24 50% - - - HMMPfam_Sec1,superfamily_Sec1/munc18-like (SM) proteins LOC390638 390638 genome.wustl.edu 37 15 91577455 91577455 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_002343397.1 -1 model p.L138 0.085 25 0% 23 43.5% 0 - - - - NULL CHD2 1106 genome.wustl.edu 37 15 93543845 93543845 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001271.3 +1 reviewed p.N1371T 1.000 273 0% 368 44.3% 5 40% possibly_damaging(0.8) tolerated(0.58) neutral(0.306) superfamily_P-loop containing nucleoside triphosphate hydrolases FAM149B2 100113400 genome.wustl.edu 37 15 97300583 97300583 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000398303 +1 known p.T18A 0.499 184 0% 253 42.7% 0 - - - - NULL ARRDC4 91947 genome.wustl.edu 37 15 98513145 98513145 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_183376.2 +1 validated p.L305F 1.000 128 0% 154 40.3% 12 33.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Arrestin_C,superfamily_E set domains SYNM 23336 genome.wustl.edu 37 15 99673117 99673117 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000336292 +1 known p.E1517* 0.005 84 1.2% 142 43% 0 - - - - NULL HSP90B2P 7190 genome.wustl.edu 37 15 99799326 99799326 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000378906 +1 known p.R160* 1.000 111 0.9% 193 33.2% 0 - - - - superfamily_Ribosomal_S5_D2-typ_fold,HMMPfam_HSP90 ENSG00000214394 0 genome.wustl.edu 37 15 100332584 100332584 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000398270 +1 known p.Q67H 0.997 117 0% 190 47.4% 0 - - - - NULL LINS 55180 genome.wustl.edu 37 15 101115225 101115225 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001040614.1 -1 reviewed p.E200* 1.000 169 0% 213 49.8% 0 - - - - NULL LINS 55180 genome.wustl.edu 37 15 101120681 101120681 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001040614.1 -1 reviewed p.L123I 0.900 171 0% 203 41.9% 0 - probably_damaging(0.988) tolerated(0.17) deleterious(0.496) NULL LRRK1 79705 genome.wustl.edu 37 15 101569252 101569252 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024652.3 +1 validated p.W926C 1.000 94 0% 125 48% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CHSY1 22856 genome.wustl.edu 37 15 101718253 101718253 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000254190 -1 known p.Q583H 0.993 135 0% 159 45.3% 18 44.4% benign(0.002) tolerated(0.28) neutral(0.032) HMMPfam_CHGN,superfamily_SSF53448 PCSK6 5046 genome.wustl.edu 37 15 101968142 101968142 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000331826 -1 known p.N259H 1.000 43 0% 70 41.4% 5 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Peptidase_S8,superfamily_Subtilisin-like RHBDF1 64285 genome.wustl.edu 37 16 112992 112992 + Missense_Mutation SNP C C G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000428730 -1 known p.G178R 1.000 26 0% 41 43.9% 36 50% unknown(0) tolerated(0.07) - NULL LUC7L 55692 genome.wustl.edu 37 16 249118 249118 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_201412.1 -1 validated p.F210 0.967 119 0% 122 50% 51 39.2% - - - HMMPfam_LUC7 ITFG3 83986 genome.wustl.edu 37 16 304616 304616 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032039.2 +1 validated p.F68 1.000 163 0% 172 44.8% 31 38.7% - - - NULL FBXL16 146330 genome.wustl.edu 37 16 746902 746902 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_153350.3 -1 validated p.F168L 0.961 36 0% 43 34.9% 1 100% possibly_damaging(0.489) deleterious(0.02) deleterious(0.545) superfamily_SSF81383 CCDC78 124093 genome.wustl.edu 37 16 774779 774779 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001031737.2 -1 validated p.R223C 0.975 16 0% 24 25% 1 0% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) NULL CHTF18 63922 genome.wustl.edu 37 16 845219 845219 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_022092.2 +1 validated p.D680Y 0.998 23 0% 36 50% 40 35% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SSTR5 6755 genome.wustl.edu 37 16 1129540 1129540 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001053.3 +1 reviewed p.I224 0.995 49 0% 171 43.9% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like CACNA1H 8912 genome.wustl.edu 37 16 1256107 1256107 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_021098.2 +1 reviewed p.V869 0.999 23 0% 56 42.9% 10 10% - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels CACNA1H 8912 genome.wustl.edu 37 16 1268293 1268293 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_021098.2 +1 reviewed p.F1843 1.000 55 0% 106 38.7% 14 0% - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels BAIAP3 8938 genome.wustl.edu 37 16 1397753 1397753 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003933.3 +1 reviewed p.E1021K 1.000 15 0% 13 38.5% 10 60% probably_damaging(0.991) deleterious(0.03) deleterious(0.808) superfamily_C2 domain (Calcium/lipid-binding domain CaLB) PTX4 390667 genome.wustl.edu 37 16 1537465 1537465 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001013658.1 -1 provisional p.A211 0.000 27 0% 28 25% 0 - - - - NULL PTX4 390667 genome.wustl.edu 37 16 1537554 1537554 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001013658.1 -1 provisional p.P182S 0.000 11 0% 11 45.5% 0 - benign(0) tolerated(0.48) neutral(0.011) NULL MAPK8IP3 23162 genome.wustl.edu 37 16 1818560 1818560 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015133.3 +1 reviewed p.V1274 0.002 26 3.8% 43 37.2% 70 42.8% - - - NULL NUBP2 10101 genome.wustl.edu 37 16 1836640 1836640 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_012225.2 +1 validated p.R40H 1.000 29 0% 39 41% 123 47.1% benign(0.034) tolerated(0.12) neutral(0.263) superfamily_SSF52540 IGFALS 3483 genome.wustl.edu 37 16 1841564 1841564 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004970.2 -1 reviewed p.T285 1.000 6 0.000 10 0.600 0 - - - - HMMPfam_LRR_1,superfamily_SSF52047,superfamily_SSF52058 NOXO1 124056 genome.wustl.edu 37 16 2030074 2030074 + Silent SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_172168.1 -1 provisional p.C175 0.402 19 0% 29 41.4% 2 50% - - - HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain CASKIN1 57524 genome.wustl.edu 37 16 2237458 2237458 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020764.3 -1 validated p.L208I 1.000 58 0% 65 16.9% 10 20% possibly_damaging(0.895) deleterious(0) deleterious(0.797) HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK ABCA3 21 genome.wustl.edu 37 16 2358605 2358605 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001089.2 -1 reviewed p.F377 0.000 93 0% 87 49.4% 0 - - - - NULL CCNF 899 genome.wustl.edu 37 16 2505435 2505435 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001761.2 +1 reviewed p.F585 0.293 42 0% 57 35.1% 24 54.1% - - - NULL NTN3 4917 genome.wustl.edu 37 16 2522991 2522991 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006181.1 +1 provisional p.D375N 1.000 57 0% 56 41.1% 0 - benign(0.097) tolerated(0.25) neutral(0.044) HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,superfamily_SSF57196 KCTD5 54442 genome.wustl.edu 37 16 2746034 2746034 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018992.3 +1 validated p.L117 0.740 167 0% 233 24.5% 12 50% - - - HMMSmart_BTB,HMMPfam_K_tetra,superfamily_BTB/POZ_fold SRRM2 23524 genome.wustl.edu 37 16 2809026 2809026 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016333.3 +1 validated p.S212G 1.000 390 0% 462 46.5% 51 41.1% unknown(0) - - NULL SRRM2 23524 genome.wustl.edu 37 16 2812614 2812614 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016333.3 +1 validated p.R695S 0.997 36 0% 60 46.7% 87 37.9% unknown(0) - - NULL SRRM2 23524 genome.wustl.edu 37 16 2814089 2814089 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016333.3 +1 validated p.F1187C 0.931 83 0% 99 41.4% 64 53.1% unknown(0) - - NULL SRRM2 23524 genome.wustl.edu 37 16 2815223 2815223 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016333.3 +1 validated p.S1565Y 0.986 39 0% 46 41.3% 57 47.3% unknown(0) - - NULL SRRM2 23524 genome.wustl.edu 37 16 2815417 2815417 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016333.3 +1 validated p.R1630W 0.520 70 0% 94 57.4% 113 52.2% unknown(0) - - NULL SRRM2 23524 genome.wustl.edu 37 16 2815651 2815651 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016333.3 +1 validated p.R1708C 1.000 57 0% 76 42.1% 188 48.4% unknown(0) - - NULL SRRM2 23524 genome.wustl.edu 37 16 2817619 2817619 + Missense_Mutation SNP G G A rs141409262 by1000genomes TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016333.3 +1 validated p.A2364T 0.955 43 0% 41 34.1% 276 46% benign(0.039) - - NULL CLDN9 9080 genome.wustl.edu 37 16 3063371 3063371 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020982.3 +1 reviewed p.S3L 0.928 80 0% 110 39.1% 2 0% probably_damaging(0.989) deleterious(0) deleterious(0.884) NULL ZNF213 7760 genome.wustl.edu 37 16 3187510 3187510 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001134655.1 +1 validated p.E77K 0.905 27 0% 29 41.4% 8 37.5% probably_damaging(0.991) deleterious(0.01) deleterious(0.850) HMMPfam_SCAN,HMMSmart_SM00431 OR1F1 4992 genome.wustl.edu 37 16 3254400 3254400 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_012360.1 +1 provisional p.D52Y 0.704 288 0% 422 43.1% 2 50% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_7tm_1,superfamily_SSF81321 ZNF200 7752 genome.wustl.edu 37 16 3283659 3283659 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003454.3 -1 validated p.R33* 0.998 134 0% 181 50.8% 12 50% - - - NULL MEFV 4210 genome.wustl.edu 37 16 3297085 3297085 + Silent SNP G G A rs104895099 TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000243.2 -1 reviewed p.I506 0.039 72 0% 124 49.2% 0 - - - - NULL ZNF263 10127 genome.wustl.edu 37 16 3339743 3339743 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005741.4 +1 validated p.E413K 0.851 130 0% 164 41.5% 26 50% benign(0) tolerated(1) - NULL TIGD7 91151 genome.wustl.edu 37 16 3349765 3349765 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_033208.2 -1 validated p.F284V 0.688 89 0% 106 13.2% 3 0% benign(0.15) tolerated(0.26) neutral(0.047) HMMPfam_DDE NLRC3 197358 genome.wustl.edu 37 16 3592241 3592241 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_178844.2 -1 validated p.A1019 0.001 112 0% 119 36.1% 0 - - - - HMMSmart_SM00368,superfamily_RNI-like CREBBP 1387 genome.wustl.edu 37 16 3823921 3823921 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004380.2 -1 reviewed p.S765Y 1.000 63 0% 94 37.2% 48 43.7% probably_damaging(0.999) tolerated(0.13) deleterious(0.743) NULL ADCY9 115 genome.wustl.edu 37 16 4016169 4016169 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001116.2 -1 reviewed p.F1223 0.879 170 0% 217 46.5% 8 0% - - - HMMPfam_Guanylate_cyc,HMMSmart_SM00044,superfamily_Adenylyl and guanylyl cyclase catalytic domain ADCY9 115 genome.wustl.edu 37 16 4016457 4016457 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001116.2 -1 reviewed p.D1127 0.023 55 0% 59 39% 5 60% - - - HMMPfam_Guanylate_cyc,HMMSmart_SM00044,superfamily_Adenylyl and guanylyl cyclase catalytic domain C16orf71 146562 genome.wustl.edu 37 16 4787868 4787868 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_139170.2 +1 validated p.S66L 0.778 79 0% 68 22.1% 2 50% possibly_damaging(0.946) deleterious(0.01) deleterious(0.796) NULL ZNF500 26048 genome.wustl.edu 37 16 4810554 4810554 + Silent SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_021646.1 -1 validated p.L233 0.730 81 0% 104 47.1% 14 42.8% - - - HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box SEPT12 124404 genome.wustl.edu 37 16 4834056 4834056 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_144605.3 -1 validated p.L130M 0.998 119 0% 181 37.6% 0 - possibly_damaging(0.915) tolerated(0.18) neutral(0.422) HMMPfam_Septin,superfamily_P-loop containing nucleoside triphosphate hydrolases UBN1 29855 genome.wustl.edu 37 16 4908594 4908594 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001079514.1 +1 validated p.R121Q 1.000 254 0% 277 10.8% 13 30.7% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) NULL PPL 5493 genome.wustl.edu 37 16 4947715 4947715 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002705.4 -1 reviewed p.C311 0.937 76 0% 91 51.6% 63 47.6% - - - HMMSmart_SM00150,superfamily_Spectrin repeat RBFOX1 54715 genome.wustl.edu 37 16 7629798 7629798 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_145891.2 +1 reviewed p.P117L 0.999 164 0% 192 53.6% 0 - benign(0.014) tolerated(0.05) neutral(0.346) superfamily_SSF54928 RBFOX1 54715 genome.wustl.edu 37 16 7760688 7760688 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_145891.2 +1 reviewed p.L400F 1.000 370 0.3% 432 37% 0 - possibly_damaging(0.896) tolerated(0.1) deleterious(0.640) NULL METTL22 79091 genome.wustl.edu 37 16 8729083 8729083 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024109.2 +1 validated p.R205Q 0.938 63 0% 75 34.7% 12 50% benign(0.001) tolerated(0.68) neutral(0.002) HMMPfam_Methyltransf_16,superfamily_S-adenosyl-L-methionine-dependent methyltransferases GRIN2A 2903 genome.wustl.edu 37 16 9857720 9857720 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000833.3 -1 reviewed p.H1227 0.008 258 0% 316 44.3% 0 - - - - HMMPfam_NMDAR2_C GRIN2A 2903 genome.wustl.edu 37 16 9984928 9984928 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000833.3 -1 reviewed p.K346T 1.000 147 0% 162 44.4% 0 - benign(0.299) tolerated(0.07) neutral(0.411) superfamily_Periplasmic binding protein-like I TEKT5 146279 genome.wustl.edu 37 16 10721508 10721508 + Missense_Mutation SNP C C T rs188259437 by1000genomes TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_144674.1 -1 provisional p.D464N 1.000 37 0% 35 51.4% 4 25% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Tektin SNX29 92017 genome.wustl.edu 37 16 12223495 12223495 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001080530.2 +1 provisional p.R107Q 1.000 40 0% 58 46.6% 10 30% probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL CPPED1 55313 genome.wustl.edu 37 16 12875076 12875076 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018340.2 -1 validated p.F85L 0.978 188 0% 226 42% 24 33.3% benign(0.014) tolerated(0.72) neutral(0.002) HMMPfam_Metallophos,superfamily_Metallo-dependent phosphatases SHISA9 729993 genome.wustl.edu 37 16 13010667 13010667 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001145204.2 +1 validated p.N270T 1.000 85 0% 126 43.7% 0 - benign(0.104) tolerated(0.14) neutral(0.258) NULL SHISA9 729993 genome.wustl.edu 37 16 13307116 13307116 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001145204.2 +1 validated p.S326Y 1.000 189 0% 300 47.7% 0 - probably_damaging(0.978) tolerated(0.05) deleterious(0.766) NULL ERCC4 2072 genome.wustl.edu 37 16 14042072 14042072 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005236.2 +1 reviewed p.I873 0.435 169 0% 190 48.9% 6 0% - - - NULL MKL2 57496 genome.wustl.edu 37 16 14340860 14340860 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014048.3 +1 validated p.I581 0.592 37 0% 60 40% 2 100% - - - NULL PARN 5073 genome.wustl.edu 37 16 14711473 14711473 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002582.2 -1 reviewed p.F121C 1.000 166 0% 259 42.1% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_CAF1,superfamily_Ribonuclease H-like NOMO1 23420 genome.wustl.edu 37 16 14970238 14970238 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014287.3 +1 reviewed p.I793 0.994 421 0% 542 45.2% 58 39.6% - - - NULL PDXDC1 23042 genome.wustl.edu 37 16 15092232 15092232 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015027.2 +1 validated p.S44F 0.640 248 0% 258 22.9% 40 40% possibly_damaging(0.746) tolerated(0.25) neutral(0.311) superfamily_PLP-dependent transferases PDXDC1 23042 genome.wustl.edu 37 16 15103568 15103568 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015027.2 +1 validated p.D227Y 1.000 545 0.2% 582 17.2% 65 23% benign(0.353) deleterious(0.04) neutral(0.460) HMMPfam_Pyridoxal_deC,superfamily_PLP-dependent transferases KIAA0430 9665 genome.wustl.edu 37 16 15698057 15698057 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014647.3 -1 validated p.E1461K 1.000 101 0% 104 30.8% 11 63.6% probably_damaging(0.979) deleterious(0) deleterious(0.867) NULL KIAA0430 9665 genome.wustl.edu 37 16 15711236 15711236 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014647.3 -1 validated p.T959 0.001 61 0% 54 38.9% 2 0% - - - NULL MYH11 4629 genome.wustl.edu 37 16 15872639 15872639 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001040114.1 -1 reviewed p.T270I 1.000 148 0% 229 36.2% 1 0% probably_damaging(0.973) deleterious(0.02) deleterious(0.798) HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 NOMO3 408050 genome.wustl.edu 37 16 16338999 16338999 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001004067.2 +1 reviewed p.K159N 0.866 425 0.2% 497 18.7% 10 30% benign(0) tolerated(0.45) neutral(0.012) HMMPfam_Cna_B,superfamily_Starch-binding domain-like SMG1 23049 genome.wustl.edu 37 16 18858832 18858832 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015092.4 -1 reviewed p.R1980Q 1.000 132 0% 201 47.8% 9 44.4% probably_damaging(0.997) deleterious(0.02) deleterious(0.849) NULL SMG1 23049 genome.wustl.edu 37 16 18883575 18883575 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015092.4 -1 reviewed p.K705T 1.000 91 0% 107 39.3% 1 100% possibly_damaging(0.564) tolerated(0.44) neutral(0.205) NULL SYT17 51760 genome.wustl.edu 37 16 19191860 19191860 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016524.2 +1 validated p.S110 0.939 31 0% 59 39% 8 50% - - - NULL TMC5 79838 genome.wustl.edu 37 16 19481130 19481130 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001105248.1 +1 validated p.L589I 1.000 107 0% 184 41.3% 6 33.3% benign(0.109) tolerated(1) neutral(0.009) NULL C16orf62 57020 genome.wustl.edu 37 16 19693580 19693580 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020314.4 +1 predicted p.R799* 1.000 281 0% 340 45.3% 26 7.6% - - - NULL IQCK 124152 genome.wustl.edu 37 16 19746686 19746686 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_153208.1 +1 provisional p.E130* 1.000 321 0% 330 18.8% 4 0% - - - NULL GP2 2813 genome.wustl.edu 37 16 20329667 20329667 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001007240.1 -1 validated p.E368K 0.975 171 0% 265 46.8% 3 0% probably_damaging(0.985) tolerated(0.41) neutral(0.447) HMMPfam_Zona_pellucida,HMMSmart_SM00241 PDILT 204474 genome.wustl.edu 37 16 20370844 20370844 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_174924.1 -1 provisional p.A518T 0.000 208 0% 309 48.2% 0 - benign(0.002) tolerated(0.07) neutral(0.319) NULL ACSM1 116285 genome.wustl.edu 37 16 20638573 20638573 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_052956.2 -1 validated p.K455N 0.000 266 0% 340 28.2% 4 0% benign(0) tolerated(0.19) neutral(0.050) HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like ACSM1 116285 genome.wustl.edu 37 16 20673143 20673143 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_052956.2 -1 validated p.R322Q 1.000 228 0% 275 42.2% 1 100% probably_damaging(0.976) deleterious(0) deleterious(0.863) HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like ACSM3 6296 genome.wustl.edu 37 16 20803433 20803433 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005622.3 +1 validated p.D479A 0.999 579 0% 686 44% 15 46.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like LOC81691 81691 genome.wustl.edu 37 16 20856128 20856128 + Missense_Mutation SNP G G T rs181905689 by1000genomes TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_030941.2 +1 validated p.D633Y 1.000 126 0% 175 42.9% 1 0% probably_damaging(0.992) deleterious(0) deleterious(0.892) HMMSmart_SM00360,superfamily_RNA-binding domain RBD DNAH3 55567 genome.wustl.edu 37 16 20947991 20947991 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017539.1 -1 provisional p.A3947T 0.958 47 0% 55 56.4% 0 - benign(0.004) tolerated(0.54) neutral(0.007) HMMPfam_Dynein_heavy DNAH3 55567 genome.wustl.edu 37 16 20974883 20974883 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017539.1 -1 provisional p.Q3441 0.000 97 0% 170 47.1% 1 100% - - - HMMPfam_Dynein_heavy DNAH3 55567 genome.wustl.edu 37 16 20976706 20976706 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017539.1 -1 provisional p.L2834I 1.000 99 0% 107 37.4% 0 - possibly_damaging(0.913) deleterious(0) deleterious(0.809) NULL DNAH3 55567 genome.wustl.edu 37 16 20986665 20986665 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017539.1 -1 provisional p.M2717L 1.000 322 0% 420 43.1% 0 - benign(0) tolerated(1) - NULL DNAH3 55567 genome.wustl.edu 37 16 20996989 20996989 + Nonsense_Mutation SNP G G A rs149230256 by1000genomes TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017539.1 -1 provisional p.R2359* 1.000 96 0% 112 40.2% 0 - - - - superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH3 55567 genome.wustl.edu 37 16 21011583 21011583 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017539.1 -1 provisional p.F2128 0.980 136 0% 258 39.9% 1 100% - - - HMMSmart_SM00382,HMMPfam_AAA_5,superfamily_P-loop containing nucleoside triphosphate hydrolases HS3ST2 9956 genome.wustl.edu 37 16 22826293 22826293 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006043.1 +1 reviewed p.G121D 1.000 6 0.000 14 0.500 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sulfotransfer_1,superfamily_SSF52540 USP31 57478 genome.wustl.edu 37 16 23079618 23079618 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020718.3 -1 validated p.E1270K 0.856 96 0% 103 18.4% 0 - benign(0) tolerated(0.32) neutral(0.024) NULL PRKCB 5579 genome.wustl.edu 37 16 24104189 24104189 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002738.6 +1 reviewed p.D203N 1.000 349 0% 383 41.3% 0 - possibly_damaging(0.828) deleterious(0) deleterious(0.758) HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) RBBP6 5930 genome.wustl.edu 37 16 24581699 24581699 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006910.4 +1 reviewed p.E1230* 1.000 144 0% 131 38.2% 3 33.3% - - - NULL TNRC6A 27327 genome.wustl.edu 37 16 24788596 24788596 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014494.2 +1 reviewed p.L169S 1.000 69 0% 95 48.4% 7 85.7% benign(0.418) tolerated(0.54) neutral(0.143) NULL TNRC6A 27327 genome.wustl.edu 37 16 24815565 24815565 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000450465 +1 known p.G194S 1.000 163 0% 202 41.1% 12 41.6% - - - NULL SLC5A11 115584 genome.wustl.edu 37 16 24902236 24902236 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_052944.2 +1 provisional p.F237L 0.167 141 0% 144 49.3% 0 - benign(0.311) tolerated(0.59) neutral(0.102) HMMPfam_SSF SLC5A11 115584 genome.wustl.edu 37 16 24909415 24909415 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_052944.2 +1 provisional p.R331C 1.000 82 0% 136 39% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SSF ZKSCAN2 342357 genome.wustl.edu 37 16 25251972 25251972 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001012981.4 -1 validated p.S690Y 0.505 288 0% 339 41.6% 1 100% possibly_damaging(0.805) deleterious(0) deleterious(0.748) NULL JMJD5 79831 genome.wustl.edu 37 16 27221649 27221649 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001145348.1 +1 reviewed p.E107K 1.000 5 0.000 9 0.444 5 80% benign(0.093) deleterious(0.04) neutral(0.356) NULL IL21R 50615 genome.wustl.edu 37 16 27455897 27455897 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_021798.2 +1 reviewed p.R181I 0.005 87 0% 139 12.2% 0 - possibly_damaging(0.925) deleterious(0.02) deleterious(0.756) superfamily_Fibronectin type III KIAA0556 23247 genome.wustl.edu 37 16 27709696 27709696 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015202.2 +1 validated p.L330I 0.000 34 0% 32 40.6% 5 60% benign(0.001) tolerated(0.93) - NULL KIAA0556 23247 genome.wustl.edu 37 16 27760917 27760917 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015202.2 +1 validated p.S879Y 0.003 15 0% 26 50% 29 37.9% possibly_damaging(0.91) deleterious(0.03) deleterious(0.727) NULL XPO6 23214 genome.wustl.edu 37 16 28123173 28123173 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015171.2 -1 provisional p.A769D 0.320 123 0% 184 49.5% 57 52.6% benign(0.025) tolerated(0.14) neutral(0.251) superfamily_ARM repeat APOBR 55911 genome.wustl.edu 37 16 28508249 28508249 + Silent SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018690.2 +1 reviewed p.R620 0.000 35 0% 46 43.5% 1 0% - - - NULL TUFM 7284 genome.wustl.edu 37 16 28856681 28856681 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003321.4 -1 reviewed p.R123H 1.000 54 0% 94 45.7% 614 50.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_GTP_EFTU,superfamily_P-loop containing nucleoside triphosphate hydrolases CD19 930 genome.wustl.edu 37 16 28946859 28946859 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001770.5 +1 reviewed p.I310M 0.944 373 0% 495 47.3% 0 - possibly_damaging(0.951) deleterious(0.05) deleterious(0.740) NULL LOC100289169 100289169 genome.wustl.edu 37 16 29063835 29063835 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_002343436.1 +1 model p.K146T 0.328 22 0% 46 43.5% 1 0% benign(0.35) deleterious(0.01) deleterious(0.517) NULL CDIPT 10423 genome.wustl.edu 37 16 29874016 29874016 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006319.3 -1 validated p.I23 1.000 88 0% 115 47% 125 34.4% - - - NULL SEZ6L2 26470 genome.wustl.edu 37 16 29908168 29908168 + Silent SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_201575.2 -1 validated p.T162 0.811 72 0% 106 51.9% 39 38.4% - - - NULL HIRIP3 8479 genome.wustl.edu 37 16 30005749 30005749 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003609.2 -1 reviewed p.R239S 0.007 424 0% 561 42.2% 7 57.1% possibly_damaging(0.444) tolerated(0.3) neutral(0.173) NULL ALDOA 226 genome.wustl.edu 37 16 30080927 30080927 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000034.2 +1 reviewed p.F244L 0.746 96 0% 113 46% 2327 53.4% benign(0.019) tolerated(0.51) neutral(0.010) HMMPfam_Glycolytic,superfamily_SSF51569 CORO1A 11151 genome.wustl.edu 37 16 30197941 30197941 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_007074.2 +1 validated p.A74V 0.025 37 0% 44 47.7% 29 0% benign(0) tolerated(0.17) neutral(0.059) HMMSmart_SM00320,HMMPfam_WD40 ITGAL 3683 genome.wustl.edu 37 16 30492807 30492807 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002209.2 +1 reviewed p.F208L 0.983 267 0% 328 42.1% 2 0% probably_damaging(1) tolerated(0.09) deleterious(0.796) HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like,superfamily_Integrin alpha N-terminal domain SRCAP 10847 genome.wustl.edu 37 16 30727510 30727510 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006662.2 +1 validated p.M873V 1.000 202 0% 247 43.7% 19 10.5% unknown(0) - - HMMPfam_SNF2_N SRCAP 10847 genome.wustl.edu 37 16 30749222 30749222 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006662.2 +1 validated p.E2621* 1.000 57 0% 60 51.7% 42 54.7% - - - NULL STX1B 112755 genome.wustl.edu 37 16 31012859 31012859 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_052874.3 -1 validated p.F32L 1.000 36 0% 41 31.7% 0 - possibly_damaging(0.914) deleterious(0) deleterious(0.810) HMMPfam_Syntaxin,HMMSmart_SM00503,superfamily_t-snare proteins ZNF646 9726 genome.wustl.edu 37 16 31088883 31088883 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014699.3 +1 validated p.A413V 0.832 70 0% 50 46% 6 33.3% probably_damaging(0.99) tolerated(0.69) neutral(0.444) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers PRSS53 339105 genome.wustl.edu 37 16 31097319 31097319 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001039503.2 -1 validated p.E283D 0.000 92 0% 96 29.2% 2 50% benign(0.001) tolerated(0.64) neutral(0.003) NULL BCKDK 10295 genome.wustl.edu 37 16 31121745 31121745 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005881.2 +1 validated p.F189L 1.000 106 0% 99 15.2% 76 21% benign(0.22) deleterious(0) neutral(0.466) HMMPfam_BCDHK_Adom3,superfamily_alpha-ketoacid dehydrogenase kinase N-terminal domain KAT8 84148 genome.wustl.edu 37 16 31138600 31138600 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_182958.2 +1 validated p.K203E 1.000 76 0% 120 47.5% 42 50% benign(0.143) tolerated(0.14) neutral(0.262) superfamily_Acyl-CoA N-acyltransferases (Nat) PRSS8 5652 genome.wustl.edu 37 16 31144178 31144178 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002773.3 -1 reviewed p.I121 0.001 138 0% 192 41.1% 755 43.3% - - - HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys ITGAM 3684 genome.wustl.edu 37 16 31282340 31282340 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000632.3 +1 reviewed p.D165Y 0.895 194 0% 231 10% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_VWA,HMMSmart_VWA,superfamily_SSF53300,superfamily_SSF69318 ITGAX 3687 genome.wustl.edu 37 16 31368580 31368580 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000887.3 +1 reviewed p.G109S 1.000 15 0% 14 71.4% 1 0% probably_damaging(1) tolerated(0.26) deleterious(0.534) superfamily_SSF69318 ITGAX 3687 genome.wustl.edu 37 16 31371267 31371267 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000887.3 +1 reviewed p.K196N 0.000 205 0% 235 26% 0 - benign(0) tolerated(0.36) neutral(0.020) HMMPfam_VWA,HMMSmart_VWA,superfamily_SSF53300,superfamily_SSF69318 ITGAD 3681 genome.wustl.edu 37 16 31435264 31435264 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005353.2 +1 validated p.F1048 0.577 75 0% 94 40.4% 0 - - - - NULL SLC5A2 6524 genome.wustl.edu 37 16 31496236 31496236 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003041.3 +1 reviewed p.E99K 1.000 126 0% 150 42.7% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_SSF ZNF267 10308 genome.wustl.edu 37 16 31925796 31925796 + Splice_Site SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003414.4 +1 validated e4-1 0.911 118 0% 162 13% 0 - - - - - ZNF267 10308 genome.wustl.edu 37 16 31926606 31926606 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003414.4 +1 validated p.E346K 0.930 142 0% 187 43.3% 3 0% possibly_damaging(0.624) deleterious(0.01) deleterious(0.623) superfamily_C2H2 and C2HC zinc fingers ENSG00000198229 0 genome.wustl.edu 37 16 32077613 32077613 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000354689 +1 known p.K76N 0.266 232 0% 349 35.2% 0 - benign(0.002) tolerated(0.07) neutral(0.319) HMMSmart_SM00406,HMMPfam_V-set,superfamily_Immunoglobulin LOC401847 401847 genome.wustl.edu 37 16 33605638 33605638 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_001718104.2 +1 model p.N103H 1.000 155 0% 219 26.9% 0 - - - - HMMSmart_SM00406,HMMPfam_V-set,superfamily_Immunoglobulin LOC401847 401847 genome.wustl.edu 37 16 33605672 33605672 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_001718104.2 +1 model p.Y114C 1.000 99 0% 161 36% 0 - - - - HMMSmart_SM00406,HMMPfam_V-set,superfamily_Immunoglobulin DNAJA2 10294 genome.wustl.edu 37 16 46991120 46991120 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005880.3 -1 reviewed p.L354I 1.000 149 0% 200 43.5% 60 41.6% benign(0.006) tolerated(0.52) neutral(0.009) HMMPfam_DnaJ_C NETO2 81831 genome.wustl.edu 37 16 47156685 47156685 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018092.3 -1 reviewed p.F179 0.998 193 0% 246 47.2% 1 0% - - - HMMSmart_SM00042,superfamily_Spermadhesin CUB domain ITFG1 81533 genome.wustl.edu 37 16 47294557 47294557 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_030790.3 -1 provisional p.C374R 1.000 219 0% 328 43% 22 36.3% probably_damaging(0.996) deleterious(0) deleterious(0.906) superfamily_SSF69318 ABCC11 85320 genome.wustl.edu 37 16 48261823 48261823 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032583.3 -1 reviewed p.V97M 0.000 160 0% 193 46.1% 0 - benign(0) tolerated(0.22) neutral(0.042) NULL N4BP1 9683 genome.wustl.edu 37 16 48595438 48595438 + Silent SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_153029.3 -1 validated p.G372 0.996 177 0% 156 44.2% 0 - - - - NULL N4BP1 9683 genome.wustl.edu 37 16 48595715 48595715 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_153029.3 -1 validated p.R280I 0.743 145 0% 152 41.4% 2 0% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL ZNF423 23090 genome.wustl.edu 37 16 49671691 49671691 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015069.2 -1 reviewed p.E458K 1.000 113 0.9% 133 42.1% 55 36.3% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2 HEATR3 55027 genome.wustl.edu 37 16 50128615 50128615 + Splice_Site SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_182922.2 +1 provisional e12-1 1.000 275 0% 263 40.7% 0 - - - - - HEATR3 55027 genome.wustl.edu 37 16 50136289 50136289 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_182922.2 +1 provisional p.S621 0.000 208 0.5% 237 46.8% 3 33.3% - - - superfamily_ARM repeat CHD9 80205 genome.wustl.edu 37 16 53289551 53289551 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_025134.4 +1 validated p.R1357* 1.000 231 0% 265 45.7% 5 20% - - - superfamily_SSF52540 AKTIP 64400 genome.wustl.edu 37 16 53528907 53528907 + Silent SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000453503 -1 known p.L164 0.720 54 0% 54 42.6% 0 - - - - NULL RPGRIP1L 23322 genome.wustl.edu 37 16 53720370 53720370 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015272.2 -1 reviewed p.R251* 1.000 279 0% 356 41.3% 1 0% - - - NULL IRX6 79190 genome.wustl.edu 37 16 55361504 55361504 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024335.2 +1 validated p.G140 0.001 81 0% 119 35.3% 0 - - - - superfamily_Homeodomain-like CES1 1066 genome.wustl.edu 37 16 55854348 55854348 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001025195.1 -1 reviewed p.S246Y 0.985 123 0% 182 25.8% 0 - probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_COesterase,superfamily_SSF53474 CES5A 221223 genome.wustl.edu 37 16 55897341 55897341 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001143685.1 -1 validated p.G243 0.005 108 0% 194 43.8% 0 - - - - HMMPfam_COesterase,superfamily_alpha/beta-Hydrolases GNAO1 2775 genome.wustl.edu 37 16 56370698 56370698 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020988.2 +1 validated p.E217K 1.000 72 0% 82 39% 2 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_G-alpha,HMMSmart_SM00275,superfamily_P-loop containing nucleoside triphosphate hydrolases OGFOD1 55239 genome.wustl.edu 37 16 56501900 56501900 + Silent SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018233.3 +1 validated p.S290 0.997 187 0% 219 44.3% 5 60% - - - HMMPfam_Ofd1_CTDD BBS2 583 genome.wustl.edu 37 16 56545168 56545168 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_031885.3 -1 reviewed p.L125P 1.000 127 0% 192 42.7% 9 66.6% probably_damaging(0.96) deleterious(0.02) deleterious(0.786) superfamily_WD40 repeat-like MT1E 4493 genome.wustl.edu 37 16 56660460 56660460 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000330439 +1 known p.I37 0.000 165 0.6% 224 46.4% 1 0% - - - HMMPfam_Metallothio,superfamily_Metallothionein_sfam NLRC5 84166 genome.wustl.edu 37 16 57062272 57062272 + Missense_Mutation SNP C C A rs190325 byCluster TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032206.3 +1 validated p.L740I 0.002 111 0% 132 37.9% 7 14.2% benign(0.389) tolerated(0.39) neutral(0.141) HMMSmart_SM00368,superfamily_RNI-like CCDC135 84229 genome.wustl.edu 37 16 57765158 57765158 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032269.5 +1 validated p.K871N 0.033 98 0% 98 48% 1 0% possibly_damaging(0.586) deleterious(0.03) deleterious(0.567) NULL ZNF319 57567 genome.wustl.edu 37 16 58030756 58030756 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020807.1 -1 provisional p.E472K 0.995 31 0% 49 57.1% 11 45.4% probably_damaging(0.957) tolerated(0.65) neutral(0.404) HMMSmart_ZnF_C2H2,superfamily_SSF57667 C16orf80 29105 genome.wustl.edu 37 16 58149954 58149954 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_013242.2 -1 validated p.F89 0.991 215 0% 281 44.8% 28 50% - - - HMMPfam_DUF667 GINS3 64785 genome.wustl.edu 37 16 58437152 58437152 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001126129.1 +1 reviewed p.G152W 1.000 80 0% 119 16% 1 100% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Psf3 CNOT1 23019 genome.wustl.edu 37 16 58555148 58555148 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016284.3 -1 validated p.K2331Q 1.000 248 0% 292 15.1% 42 26.1% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Not1 CNOT1 23019 genome.wustl.edu 37 16 58573745 58573745 + Missense_Mutation SNP C C T rs181822641 by1000genomes TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016284.3 -1 validated p.R1640Q 1.000 186 0.5% 244 42.6% 43 34.8% benign(0.161) tolerated(0.37) neutral(0.034) NULL CNOT1 23019 genome.wustl.edu 37 16 58579321 58579321 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016284.3 -1 validated p.D1361N 1.000 497 0% 671 17.4% 283 15.1% probably_damaging(0.989) deleterious(0) deleterious(0.884) NULL CNOT1 23019 genome.wustl.edu 37 16 58589811 58589811 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016284.3 -1 validated p.S827 1.000 176 0% 242 47.9% 23 47.8% - - - NULL TK2 7084 genome.wustl.edu 37 16 66582890 66582890 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004614.4 -1 reviewed p.K91N 1.000 371 0% 414 49.5% 12 50% possibly_damaging(0.952) deleterious(0.01) deleterious(0.801) superfamily_P-loop containing nucleoside triphosphate hydrolases CMTM1 113540 genome.wustl.edu 37 16 66612769 66612769 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_052999.3 +1 reviewed p.I242 0.002 116 0% 170 36.5% 2 0% - - - HMMPfam_MARVEL DYNC1LI2 1783 genome.wustl.edu 37 16 66776427 66776427 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006141.2 -1 validated p.S148Y 1.000 240 1.3% 338 42% 5 20% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_DLIC,superfamily_P-loop containing nucleoside triphosphate hydrolases CCDC79 283847 genome.wustl.edu 37 16 66792720 66792720 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001136505.1 -1 provisional p.R651I 1.000 430 0% 448 42.6% 0 - possibly_damaging(0.918) deleterious(0) deleterious(0.813) NULL CDH16 1014 genome.wustl.edu 37 16 66950035 66950035 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004062.2 -1 reviewed p.E119D 1.000 113 0% 120 17.5% 0 - benign(0.076) tolerated(0.09) neutral(0.302) HMMSmart_SM00112 KCTD19 146212 genome.wustl.edu 37 16 67327843 67327843 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001100915.1 -1 provisional p.P608S 0.959 210 0% 240 40.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL LRRC36 55282 genome.wustl.edu 37 16 67418910 67418910 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018296.5 +1 validated p.S728Y 1.000 72 0% 116 39.7% 1 100% benign(0.293) deleterious(0) deleterious(0.535) NULL RLTPR 146206 genome.wustl.edu 37 16 67688765 67688765 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001013838.1 +1 provisional p.S1223G 0.968 50 0% 61 34.4% 1 0% possibly_damaging(0.444) tolerated(0.31) neutral(0.172) NULL GFOD2 81577 genome.wustl.edu 37 16 67709621 67709621 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_030819.3 -1 validated p.G199R 1.000 16 0% 45 53.3% 50 42% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_GFO_IDH_MocA_C,superfamily_Glyceraldehyde-3-phosphate dehydrogenase-like C-terminal domain TSNAXIP1 55815 genome.wustl.edu 37 16 67854847 67854847 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018430.2 +1 validated p.R31* 0.003 82 0% 81 51.9% 0 - - - - NULL EDC4 23644 genome.wustl.edu 37 16 67909953 67909953 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014329.3 +1 validated p.K63T 0.997 49 0% 74 48.6% 22 54.5% possibly_damaging(0.679) tolerated(0.07) deleterious(0.561) NULL SLC7A6 9057 genome.wustl.edu 37 16 68308738 68308738 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001076785.1 +1 validated p.E37K 0.966 205 0% 227 38.8% 3 0% benign(0.024) tolerated(0.28) neutral(0.033) NULL ZFP90 146198 genome.wustl.edu 37 16 68597511 68597511 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000327567 +1 known p.E46* 1.000 122 0% 163 46% 6 0% - - - NULL ZFP90 146198 genome.wustl.edu 37 16 68598159 68598159 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_133458.2 +1 provisional p.S490Y 0.227 125 0% 224 37.1% 11 45.4% probably_damaging(0.965) deleterious(0.01) deleterious(0.812) superfamily_C2H2 and C2HC zinc fingers TMCO7 79613 genome.wustl.edu 37 16 68936244 68936244 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024562.1 +1 validated p.E502* 1.000 206 0% 266 41.4% 0 - - - - superfamily_ARM repeat,HMMPfam_DUF2435 TMCO7 79613 genome.wustl.edu 37 16 68943271 68943271 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024562.1 +1 validated p.R653I 0.766 85 0% 97 43.3% 7 42.8% possibly_damaging(0.465) tolerated(0.4) neutral(0.169) superfamily_ARM repeat,HMMPfam_DUF2435 COG8 84342 genome.wustl.edu 37 16 69368768 69368768 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032382.4 -1 reviewed p.S357G 1.000 59 0% 73 46.6% 9 22.2% benign(0.319) tolerated(0.34) neutral(0.122) HMMPfam_Dor1 DDX19A 55308 genome.wustl.edu 37 16 70399022 70399022 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018332.3 +1 provisional p.R198* 1.000 154 0% 249 41% 13 0% - - - HMMPfam_DEAD,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases COG4 25839 genome.wustl.edu 37 16 70543207 70543207 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015386.2 -1 validated p.L310R 1.000 360 0% 486 48.6% 39 41% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_COG4,HMMSmart_SM00762 SF3B3 23450 genome.wustl.edu 37 16 70601423 70601423 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_012426.4 +1 reviewed p.R979Q 1.000 332 0.3% 440 44.3% 106 39.6% probably_damaging(0.985) deleterious(0) deleterious(0.877) HMMPfam_CPSF_A SF3B3 23450 genome.wustl.edu 37 16 70602279 70602279 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_012426.4 +1 reviewed p.R1016C 1.000 261 0% 356 43.5% 171 42.1% probably_damaging(0.982) tolerated(0.11) deleterious(0.698) HMMPfam_CPSF_A HYDIN 54768 genome.wustl.edu 37 16 70841825 70841825 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032821.2 -1 validated p.L5007 0.000 81 0% 92 43.5% 3 100% - - - NULL HYDIN 54768 genome.wustl.edu 37 16 70862324 70862324 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032821.2 -1 validated p.L4706 1.000 63 0% 70 41.4% 1 100% - - - NULL HYDIN 54768 genome.wustl.edu 37 16 70897084 70897084 + Missense_Mutation SNP A A T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032821.2 -1 validated p.F3824I 0.002 125 0% 175 11.4% 0 - benign(0.016) tolerated(0.09) neutral(0.297) NULL HYDIN 54768 genome.wustl.edu 37 16 70913645 70913645 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032821.2 -1 validated p.I3409 0.997 259 0% 318 23.9% 1 0% - - - NULL HYDIN 54768 genome.wustl.edu 37 16 70975704 70975704 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032821.2 -1 validated p.G2229R 1.000 109 0% 178 30.9% 3 33.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_P-loop containing nucleoside triphosphate hydrolases HYDIN 54768 genome.wustl.edu 37 16 71127814 71127814 + Missense_Mutation SNP C C T rs77201281 byCluster TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032821.2 -1 validated p.R451Q 1.000 138 0% 180 32.2% 0 - benign(0.411) tolerated(0.63) neutral(0.137) NULL FTSJD1 55783 genome.wustl.edu 37 16 71318152 71318152 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001099642.1 -1 validated p.E558K 1.000 99 0% 105 38.1% 3 0% benign(0.013) deleterious(0.01) neutral(0.406) NULL ATXN1L 342371 genome.wustl.edu 37 16 71883776 71883776 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001137675.2 +1 validated p.W45R 0.918 47 0% 81 42% 23 34.7% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL PKD1L3 342372 genome.wustl.edu 37 16 71976495 71976495 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000335106 -1 known p.K1429T 0.000 120 0% 129 41.1% 0 - - - - NULL PKD1L3 342372 genome.wustl.edu 37 16 72020157 72020157 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000335106 -1 known p.S266Y 0.000 222 0% 288 38.9% 0 - - - - NULL HP 3240 genome.wustl.edu 37 16 72094540 72094540 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005143.3 +1 reviewed p.P324 0.000 173 0.6% 206 23.8% 0 - - - - HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys ZFHX3 463 genome.wustl.edu 37 16 72822728 72822728 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006885.3 -1 reviewed p.P3149 1.000 38 0% 90 11.1% 28 0% - - - NULL ZFHX3 463 genome.wustl.edu 37 16 72831570 72831570 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006885.3 -1 reviewed p.A1671S 0.790 126 0% 179 40.8% 13 46.1% unknown(0) - - NULL ZFHX3 463 genome.wustl.edu 37 16 72832604 72832604 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006885.3 -1 reviewed p.E1326G 1.000 46 0% 39 51.3% 8 50% unknown(0) - - NULL ZFHX3 463 genome.wustl.edu 37 16 72863756 72863756 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006885.3 -1 reviewed p.E1151* 1.000 224 0% 300 46% 4 75% - - - NULL ZFHX3 463 genome.wustl.edu 37 16 72992208 72992208 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006885.3 -1 reviewed p.D613N 1.000 131 0% 163 37.4% 5 0% unknown(0) - - NULL LOC100289496 100289496 genome.wustl.edu 37 16 73161370 73161370 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_002344114.1 -1 model p.D131N 0.000 138 0% 244 48% 0 - possibly_damaging(0.507) - - NULL LOC100132346 100132346 genome.wustl.edu 37 16 74646658 74646658 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_001726790.2 -1 model p.A49T 0.987 45 0% 40 45% 0 - - - - HMMPfam_Cpn10,superfamily_GroES-like MLKL 197259 genome.wustl.edu 37 16 74726279 74726279 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152649.2 -1 validated p.E166* 0.008 337 0% 371 39.9% 0 - - - - NULL ZFP1 162239 genome.wustl.edu 37 16 75203298 75203298 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_153688.2 +1 validated p.V97A 0.948 139 0% 161 41% 0 - benign(0.366) tolerated(0.1) neutral(0.403) NULL ZFP1 162239 genome.wustl.edu 37 16 75203923 75203923 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_153688.2 +1 validated p.F305L 0.997 141 0.7% 164 42.1% 9 44.4% possibly_damaging(0.74) deleterious(0.01) deleterious(0.677) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers CHST6 4166 genome.wustl.edu 37 16 75512546 75512546 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_021615.4 -1 reviewed p.R394Q 0.000 22 0% 45 26.7% 48 66.6% benign(0.097) tolerated(0.31) neutral(0.035) NULL KARS 3735 genome.wustl.edu 37 16 75669843 75669843 + Missense_Mutation SNP C C G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001130089.1 -1 reviewed p.M240I 1.000 190 0% 238 45.4% 131 45.8% benign(0.23) deleterious(0.03) neutral(0.388) superfamily_Nucleic_acid_OB CNTNAP4 85445 genome.wustl.edu 37 16 76587219 76587219 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_138994.3 +1 validated p.A1088V 0.518 22 0% 32 25% 0 - benign(0.005) deleterious(0.03) neutral(0.364) HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 MON1B 22879 genome.wustl.edu 37 16 77232089 77232089 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014940.2 +1 validated p.R510C 1.000 201 0.5% 256 43.4% 51 50.9% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Mon1 GCSH 2653 genome.wustl.edu 37 16 81124262 81124262 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004483.4 -1 reviewed p.E58K 1.000 602 0% 654 41.3% 33 45.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_GCV_H,superfamily_Single hybrid motif PKD1L2 114780 genome.wustl.edu 37 16 81134756 81134756 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_052892.3 -1 reviewed p.D2451N 0.000 184 0% 175 45.7% 2 50% unknown(0) - - NULL PKD1L2 114780 genome.wustl.edu 37 16 81204680 81204680 + Splice_Site SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001076780.1 -1 reviewed e17-1 1.000 48 0% 58 56.9% 0 - - - - - CMIP 80790 genome.wustl.edu 37 16 81654499 81654499 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_198390.2 +1 validated p.R149* 0.998 136 0% 167 43.7% 8 12.5% - - - superfamily_PH domain-like PLCG2 5336 genome.wustl.edu 37 16 81968079 81968079 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002661.2 +1 validated p.E929K 1.000 109 0% 165 46.7% 6 33.3% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_PI-PLC-Y,superfamily_PLC-like_Pdiesterase_TIM-brl HSBP1 3281 genome.wustl.edu 37 16 83842927 83842927 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001537.2 +1 reviewed p.R44C 1.000 154 0% 262 12.2% 591 20.9% benign(0.078) deleterious(0.02) neutral(0.389) HMMPfam_HSBP1 SLC38A8 146167 genome.wustl.edu 37 16 84046628 84046628 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001080442.1 -1 provisional p.E398K 0.961 116 0% 142 44.4% 0 - possibly_damaging(0.61) deleterious(0.03) deleterious(0.576) NULL HSDL1 83693 genome.wustl.edu 37 16 84163651 84163651 + Silent SNP C C T rs148654230 by1000genomes TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_031463.4 -1 validated p.T202 0.691 137 0% 152 44.7% 8 25% - - - HMMPfam_adh_short,superfamily_NAD(P)-binding Rossmann-fold domains USP10 9100 genome.wustl.edu 37 16 84801927 84801927 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005153.2 +1 reviewed p.E654A 1.000 136 0% 157 39.5% 44 61.3% unknown(0) - - HMMPfam_UCH,superfamily_SSF54001 CRISPLD2 83716 genome.wustl.edu 37 16 84922924 84922924 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_031476.3 +1 validated p.K465T 1.000 108 0% 138 42% 9 55.5% probably_damaging(0.988) deleterious(0) deleterious(0.882) HMMPfam_LCCL,HMMSmart_SM00603,superfamily_LCCL domain KIAA0513 9764 genome.wustl.edu 37 16 85120705 85120705 + Silent SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014732.2 +1 validated p.F373 0.779 125 0% 153 39.2% 2 50% - - - NULL KIAA0182 23199 genome.wustl.edu 37 16 85689393 85689393 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014615.2 +1 validated p.G287S 0.995 50 0% 59 37.3% 17 29.4% unknown(0) tolerated(0.06) - NULL KIAA0182 23199 genome.wustl.edu 37 16 85694826 85694826 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014615.2 +1 validated p.S572L 1.000 9 0.000 13 0.308 37 24.3% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL KIAA0182 23199 genome.wustl.edu 37 16 85697160 85697160 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014615.2 +1 validated p.E862* 1.000 105 0% 138 41.3% 24 37.5% - - - NULL GINS2 51659 genome.wustl.edu 37 16 85712254 85712254 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016095.2 -1 validated p.P108 0.947 110 0% 162 28.4% 30 16.6% - - - HMMPfam_Psf2 ZCCHC14 23174 genome.wustl.edu 37 16 87446522 87446522 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015144.2 -1 validated p.F465S 0.959 60 0% 78 44.9% 13 61.5% unknown(0) tolerated(0.19) - NULL CA5A 763 genome.wustl.edu 37 16 87921865 87921865 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001739.1 -1 reviewed p.R263H 0.998 121 0% 195 47.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Carb_anhydrase,superfamily_Carbonic anhydrase ZNF469 84627 genome.wustl.edu 37 16 88496473 88496473 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001127464.1 +1 reviewed p.I865 0.717 5 0.000 9 0.889 1 0% - - - NULL ZNF469 84627 genome.wustl.edu 37 16 88502143 88502143 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001127464.1 +1 reviewed p.F2727L 0.001 127 0% 160 13.8% 1 0% benign(0) deleterious(0) neutral(0.445) NULL ZNF469 84627 genome.wustl.edu 37 16 88504685 88504685 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001127464.1 +1 reviewed p.R3575W 0.002 13 0% 13 46.2% 0 - probably_damaging(0.982) - - NULL C16orf85 400555 genome.wustl.edu 37 16 88620465 88620465 + Silent SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000378416 -1 known p.S55 0.094 44 0% 55 32.7% 0 - - - - NULL CTU2 348180 genome.wustl.edu 37 16 88778732 88778732 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001012759.1 +1 validated p.E132K 0.333 110 0% 135 40.7% 20 35% benign(0.025) tolerated(0.24) neutral(0.038) superfamily_Adenine nucleotide alpha hydrolases-like TRAPPC2L 51693 genome.wustl.edu 37 16 88925066 88925066 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016209.3 +1 validated p.E25K 0.996 83 0% 108 38.9% 245 37.5% benign(0.002) tolerated(0.4) neutral(0.016) HMMPfam_Sedlin_N,superfamily_SNARE-like ANKRD11 29123 genome.wustl.edu 37 16 89345787 89345787 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_013275.4 -1 validated p.R2388H 0.941 25 0% 47 51.1% 41 53.6% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL SPG7 6687 genome.wustl.edu 37 16 89598439 89598439 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003119.2 +1 reviewed p.A372V 1.000 85 1.2% 151 47% 50 40% probably_damaging(0.988) deleterious(0) deleterious(0.882) HMMSmart_SM00382,HMMPfam_AAA,superfamily_P-loop containing nucleoside triphosphate hydrolases CPNE7 27132 genome.wustl.edu 37 16 89661817 89661817 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014427.4 +1 reviewed p.D524N 0.996 7 0.000 15 0.333 2 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00327,HMMPfam_Copine,superfamily_vWA-like CDK10 8558 genome.wustl.edu 37 16 89758285 89758285 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_052988.4 +1 reviewed p.S136L 0.997 139 0.7% 163 49.1% 67 35.8% benign(0.004) tolerated(0.97) - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase C16orf7 9605 genome.wustl.edu 37 16 89774353 89774353 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004913.2 -1 validated p.I604 0.839 21 0% 20 50% 32 28.1% - - - HMMPfam_VPS9,superfamily_SSF109993 TCF25 22980 genome.wustl.edu 37 16 89970564 89970564 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014972.2 +1 validated p.D474N 0.942 76 0% 106 38.7% 84 42.8% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_DUF654 GLOD4 51031 genome.wustl.edu 37 17 679019 679019 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016080.3 -1 validated p.Q134 0.042 124 0% 132 47% 20 50% - - - HMMPfam_Glyoxalase CRK 1398 genome.wustl.edu 37 17 1340345 1340345 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016823.2 -1 reviewed p.E116* 1.000 220 0% 217 45.2% 20 25% - - - superfamily_SH3-domain,superfamily_SH2 domain PITPNA 5306 genome.wustl.edu 37 17 1438503 1438503 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006224.3 -1 reviewed p.Q206 1.000 200 0% 241 51% 48 37.5% - - - HMMPfam_IP_trans,superfamily_SSF55961 SCARF1 8578 genome.wustl.edu 37 17 1538441 1538441 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003693.2 -1 reviewed p.E702K 0.998 15 0% 15 40% 5 0% benign(0.287) deleterious(0) deleterious(0.533) NULL PRPF8 10594 genome.wustl.edu 37 17 1554107 1554107 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006445.3 -1 reviewed p.L2333 1.000 55 0% 91 41.8% 491 44.6% - - - HMMPfam_PROCT PRPF8 10594 genome.wustl.edu 37 17 1578988 1578988 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006445.3 -1 reviewed p.R933H 1.000 133 0% 153 20.3% 119 24.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PRPF8 10594 genome.wustl.edu 37 17 1581888 1581888 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006445.3 -1 reviewed p.R593Q 1.000 105 0% 124 33.9% 132 43.9% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_PROCN SERPINF2 5345 genome.wustl.edu 37 17 1657778 1657778 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000934.3 +1 reviewed p.L476F 0.609 50 0% 68 51.5% 0 - benign(0.046) deleterious(0) neutral(0.447) NULL RPA1 6117 genome.wustl.edu 37 17 1783902 1783902 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002945.3 +1 validated p.F386 1.000 197 0% 204 40.2% 32 37.5% - - - superfamily_Nucleic acid-binding proteins DPH1 1801 genome.wustl.edu 37 17 1943538 1943538 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001383.3 +1 validated p.S264F 1.000 97 0% 92 41.3% 56 50% benign(0.012) tolerated(0.07) neutral(0.320) HMMPfam_Diphthamide_syn KIAA0664 23277 genome.wustl.edu 37 17 2597527 2597527 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015229.3 -1 validated p.A955V 0.984 90 1.1% 107 38.3% 196 37.2% benign(0) tolerated(0.42) neutral(0.014) NULL OR1A1 8383 genome.wustl.edu 37 17 3119577 3119577 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014565.2 +1 validated p.F221 0.035 236 0% 307 45% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 SPATA22 84690 genome.wustl.edu 37 17 3343629 3343629 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032598.4 -1 validated p.R302C 1.000 39 0% 59 39% 0 - unknown(0) - - NULL ITGAE 3682 genome.wustl.edu 37 17 3618155 3618155 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002208.4 -1 reviewed p.E1176K 0.000 400 0% 418 40.4% 15 33.3% benign(0.026) tolerated(0.49) neutral(0.011) NULL ITGAE 3682 genome.wustl.edu 37 17 3631413 3631413 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002208.4 -1 reviewed p.E988* 1.000 215 0% 281 47.3% 3 0% - - - HMMPfam_Integrin_alpha2 C17orf85 55421 genome.wustl.edu 37 17 3721585 3721585 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001114118.1 -1 provisional p.E428K 1.000 118 1.7% 115 41.7% 11 27.2% benign(0.076) deleterious(0) neutral(0.450) NULL CAMKK1 84254 genome.wustl.edu 37 17 3789001 3789001 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000381769 -1 known p.R21K 0.000 28 0% 37 35.1% 0 - unknown(0) - - NULL P2RX1 5023 genome.wustl.edu 37 17 3807303 3807303 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002558.2 -1 reviewed p.K148T 1.000 61 0% 84 35.7% 0 - benign(0.032) deleterious(0.02) neutral(0.385) HMMPfam_P2X_receptor ZZEF1 23140 genome.wustl.edu 37 17 3919619 3919619 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015113.3 -1 validated p.E2715K 1.000 237 0% 281 23.8% 28 25% probably_damaging(0.999) tolerated(0.19) deleterious(0.540) superfamily_Spermadhesin CUB domain ZZEF1 23140 genome.wustl.edu 37 17 3970468 3970468 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015113.3 -1 validated p.R1382* 1.000 242 0% 289 47.8% 1 100% - - - NULL SPNS3 201305 genome.wustl.edu 37 17 4389746 4389746 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_182538.4 +1 validated p.L440M 1.000 29 0% 36 36.1% 1 0% possibly_damaging(0.78) tolerated(0.09) deleterious(0.588) superfamily_MFS general substrate transporter PELP1 27043 genome.wustl.edu 37 17 4579050 4579050 + Silent SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000301396 -1 known p.D370 0.000 114 0% 118 16.1% 1 0% - - - NULL CXCL16 58191 genome.wustl.edu 37 17 4642167 4642167 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001100812.1 -1 validated p.R62I 0.000 41 0% 48 43.8% 47 34% benign(0.001) tolerated(0.24) neutral(0.037) NULL TM4SF5 9032 genome.wustl.edu 37 17 4685923 4685923 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003963.2 +1 reviewed p.F128 0.897 51 0% 76 47.4% 0 - - - - HMMPfam_L6_membrane PLD2 5338 genome.wustl.edu 37 17 4711611 4711611 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002663.3 +1 validated p.D95N 0.599 103 0% 135 29.6% 7 28.5% benign(0) tolerated(0.27) neutral(0.034) HMMPfam_PX,HMMSmart_SM00312,superfamily_PX domain MINK1 50488 genome.wustl.edu 37 17 4789239 4789239 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_153827.4 +1 reviewed p.E225K 1.000 180 0% 236 47.9% 36 19.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase MINK1 50488 genome.wustl.edu 37 17 4798501 4798501 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_153827.4 +1 reviewed p.R1017* 1.000 66 0% 90 50% 37 5.4% - - - HMMSmart_SM00036 ENO3 2027 genome.wustl.edu 37 17 4856566 4856566 + Splice_Site SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001976.3 +1 reviewed e4-1 1.000 296 0% 427 44.7% 1 0% - - - - RABEP1 9135 genome.wustl.edu 37 17 5212066 5212066 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004703.4 +1 validated p.E38* 1.000 158 0% 191 37.2% 2 0% - - - NULL RPAIN 84268 genome.wustl.edu 37 17 5324773 5324773 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001033002.3 +1 validated p.E80G 0.360 187 0% 257 44% 86 43% benign(0.003) tolerated(0.18) neutral(0.056) NULL C1QBP 708 genome.wustl.edu 37 17 5341484 5341484 + Silent SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001212.3 -1 reviewed p.N114 0.878 403 0% 432 41.9% 46 54.3% - - - HMMPfam_MAM33,superfamily_MAM33 NLRP1 22861 genome.wustl.edu 37 17 5421189 5421189 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_033004.3 -1 reviewed p.R1312* 0.022 153 0% 209 43.5% 0 - - - - NULL NLRP1 22861 genome.wustl.edu 37 17 5436163 5436163 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_033004.3 -1 reviewed p.D1092G 0.025 85 0% 93 45.2% 0 - probably_damaging(0.954) deleterious(0.02) deleterious(0.780) NULL AIPL1 23746 genome.wustl.edu 37 17 6329069 6329069 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014336.3 -1 reviewed p.K289T 0.994 35 0% 64 46.9% 1 100% probably_damaging(0.986) deleterious(0.01) deleterious(0.840) superfamily_SSF48452 ALOX12 239 genome.wustl.edu 37 17 6913595 6913595 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000697.2 +1 validated p.F615L 1.000 120 0% 127 37.8% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Lipoxygenase,superfamily_Lipoxygenase BCL6B 255877 genome.wustl.edu 37 17 6927842 6927842 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_181844.3 +1 validated p.R175Q 1.000 105 0% 121 44.6% 0 - probably_damaging(0.969) tolerated(0.6) neutral(0.416) NULL DLG4 1742 genome.wustl.edu 37 17 7107371 7107371 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001365.3 -1 reviewed p.G99R 1.000 306 0.3% 358 45.3% 4 25% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_PDZ,HMMPfam_MAGUK_N_PEST ACADVL 37 genome.wustl.edu 37 17 7124143 7124143 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000018.2 +1 reviewed p.F112L 1.000 224 0% 245 24.5% 152 22.3% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Acyl-CoA_dh_N,superfamily_Acyl-CoA dehydrogenase NM domain-like SLC2A4 6517 genome.wustl.edu 37 17 7186902 7186902 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001042.2 +1 reviewed p.I87 1.000 174 0.6% 250 47.6% 0 - - - - HMMPfam_Sugar_tr,superfamily_MFS_gen_substrate_transporter EIF5A 1984 genome.wustl.edu 37 17 7214735 7214735 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001143760.1 +1 validated p.R143C 1.000 242 0% 341 46.9% 1578 41% benign(0.028) deleterious(0.02) neutral(0.385) superfamily_Nucleic_acid_OB,HMMPfam_eIF-5a GPS2 2874 genome.wustl.edu 37 17 7217723 7217723 + Splice_Site SNP C C T rs112452916 byCluster TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004489.4 -1 reviewed e3-1 1.000 341 0% 449 20% 0 - - - - - NEURL4 84461 genome.wustl.edu 37 17 7229858 7229858 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032442.2 -1 validated p.D368N 1.000 152 0% 201 41.8% 12 41.6% probably_damaging(0.965) deleterious(0) deleterious(0.851) HMMPfam_Neuralized,HMMSmart_SM00588 POLR2A 5430 genome.wustl.edu 37 17 7401471 7401471 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000937.3 +1 validated p.R426H 1.000 103 0% 160 45.6% 168 40.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RNA_pol_Rpb1_2,superfamily_SSF64484 POLR2A 5430 genome.wustl.edu 37 17 7406991 7406991 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000937.3 +1 validated p.F1041V 1.000 137 0% 185 20.5% 186 36.5% possibly_damaging(0.675) deleterious(0) deleterious(0.684) HMMPfam_RNA_pol_Rpb1_6,HMMPfam_RNA_pol_Rpb1_5,superfamily_SSF64484 POLR2A 5430 genome.wustl.edu 37 17 7411775 7411775 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000937.3 +1 validated p.R1149Q 0.998 67 0% 90 46.7% 119 40.3% probably_damaging(0.986) tolerated(0.35) neutral(0.455) HMMPfam_RNA_pol_Rpb1_5,superfamily_SSF64484 POLR2A 5430 genome.wustl.edu 37 17 7416821 7416821 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000937.3 +1 validated p.P1746 0.999 1057 0.1% 1226 43.4% 454 47.1% - - - HMMPfam_RNA_pol_Rpb1_R,PatternScan_RNA_POL_II_REPEAT MPDU1 9526 genome.wustl.edu 37 17 7487229 7487229 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004870.3 +1 reviewed p.L17I 1.000 92 0% 122 41.8% 26 69.2% benign(0.34) tolerated(0.1) neutral(0.394) NULL TP53 7157 genome.wustl.edu 37 17 7579883 7579883 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000546.4 -1 reviewed p.V10 0.023 44 0% 64 39.1% 62 29% - - - HMMPfam_P53_TAD DNAH2 146754 genome.wustl.edu 37 17 7673645 7673645 + Silent SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020877.2 +1 validated p.I1339 0.928 188 0% 239 41.4% 0 - - - - HMMPfam_DHC_N2 DNAH2 146754 genome.wustl.edu 37 17 7674695 7674695 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020877.2 +1 validated p.S1470 0.214 135 0% 181 43.6% 0 - - - - HMMPfam_DHC_N2 DNAH2 146754 genome.wustl.edu 37 17 7720910 7720910 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020877.2 +1 validated p.S3351Y 0.827 125 0% 129 38.8% 0 - benign(0.045) deleterious(0.03) neutral(0.367) NULL CHD3 1107 genome.wustl.edu 37 17 7805993 7805993 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001005271.2 +1 reviewed p.I1165 0.381 284 0.4% 389 48.6% 100 48% - - - HMMPfam_Helicase_C,HMMSmart_SM00490,superfamily_P-loop containing nucleoside triphosphate hydrolases CHD3 1107 genome.wustl.edu 37 17 7806817 7806817 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001005271.2 +1 reviewed p.N1300 0.338 20 0% 38 34.2% 192 45.8% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases CNTROB 116840 genome.wustl.edu 37 17 7847559 7847559 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000380262 +1 known p.E522K 1.000 40 0% 56 10.7% 83 3.6% possibly_damaging(0.945) tolerated(0.08) deleterious(0.690) NULL ALOX15B 247 genome.wustl.edu 37 17 7948600 7948600 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001141.2 +1 reviewed p.I298 0.214 79 0% 101 45.5% 0 - - - - HMMPfam_Lipoxygenase,superfamily_Lipoxigenase ALOXE3 59344 genome.wustl.edu 37 17 8015414 8015414 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_021628.2 -1 reviewed p.T261P 0.252 109 0% 179 39.1% 0 - benign(0) deleterious(0.01) neutral(0.406) superfamily_Lipoxygenase ALOXE3 59344 genome.wustl.edu 37 17 8020153 8020153 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_021628.2 -1 reviewed p.H98R 0.032 88 0% 137 46.7% 0 - benign(0.006) tolerated(0.55) neutral(0.007) HMMPfam_PLAT,HMMSmart_LH2,superfamily_Lipase_LipOase ALOXE3 59344 genome.wustl.edu 37 17 8020257 8020257 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_021628.2 -1 reviewed p.E63 0.989 39 0% 76 52.6% 0 - - - - HMMPfam_PLAT,HMMSmart_LH2,superfamily_Lipase_LipOase PER1 5187 genome.wustl.edu 37 17 8045743 8045743 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002616.2 -1 reviewed p.F1098S 0.999 45 0% 44 29.5% 8 62.5% possibly_damaging(0.916) deleterious(0) deleterious(0.811) NULL TMEM107 84314 genome.wustl.edu 37 17 8077885 8077885 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032354.3 -1 validated p.F108 0.966 171 0% 200 37% 11 9% - - - NULL ARHGEF15 22899 genome.wustl.edu 37 17 8224303 8224303 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_173728.2 +1 reviewed p.P840T 0.282 49 0% 56 48.2% 6 0% benign(0.013) tolerated(0.24) neutral(0.038) NULL MYH10 4628 genome.wustl.edu 37 17 8526265 8526265 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005964.1 -1 validated p.S100 0.997 249 0% 295 42.4% 10 40% - - - HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases CCDC42 146849 genome.wustl.edu 37 17 8644938 8644938 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_144681.2 -1 validated p.E116* 0.968 218 0% 322 37.3% 0 - - - - NULL PIK3R5 23533 genome.wustl.edu 37 17 8790869 8790869 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001142633.1 -1 validated p.P583L 0.001 51 0% 68 25% 1 0% benign(0.001) tolerated(0.14) neutral(0.249) HMMPfam_PI3K_1B_p101 PIK3R5 23533 genome.wustl.edu 37 17 8792177 8792177 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001142633.1 -1 validated p.Q309H 0.999 65 0% 97 40.2% 1 0% possibly_damaging(0.671) tolerated(0.11) deleterious(0.510) HMMPfam_PI3K_1B_p101 GLP2R 9340 genome.wustl.edu 37 17 9783787 9783787 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004246.1 +1 reviewed p.A413V 0.003 290 0% 323 45.8% 0 - benign(0.001) tolerated(0.32) neutral(0.024) HMMPfam_7tm_2 MYH13 8735 genome.wustl.edu 37 17 10209948 10209948 + Splice_Site SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003802.2 -1 validated e35-2 1.000 182 0% 235 12.3% 0 - - - - - MYH13 8735 genome.wustl.edu 37 17 10250059 10250059 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003802.2 -1 validated p.L401 0.991 243 0% 296 42.9% 0 - - - - HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYH13 8735 genome.wustl.edu 37 17 10253952 10253952 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003802.2 -1 validated p.T355 0.411 178 0% 264 50% 0 - - - - HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYH8 4626 genome.wustl.edu 37 17 10317342 10317342 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002472.2 -1 reviewed p.L342M 1.000 231 0% 322 42.9% 0 - probably_damaging(0.997) tolerated(0.21) deleterious(0.510) HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 MYH4 4622 genome.wustl.edu 37 17 10348360 10348360 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017533.2 -1 validated p.R1800H 1.000 310 0% 373 44.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Myosin_tail_1 MYH4 4622 genome.wustl.edu 37 17 10351746 10351746 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017533.2 -1 validated p.K1541N 1.000 318 0% 404 17.1% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Myosin_tail_1 MYH1 4619 genome.wustl.edu 37 17 10398578 10398578 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005963.3 -1 reviewed p.Q1742 1.000 741 0% 919 47.4% 0 - - - - HMMPfam_Myosin_tail_1 MYH1 4619 genome.wustl.edu 37 17 10411921 10411921 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005963.3 -1 reviewed p.K552N 1.000 383 0% 550 42% 0 - probably_damaging(0.998) tolerated(0.11) deleterious(0.746) HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 SHISA6 388336 genome.wustl.edu 37 17 11145336 11145336 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_207386.3 +1 validated p.Y199 0.933 4 0.000 20 0.400 2 0% - - - NULL DNAH9 1770 genome.wustl.edu 37 17 11572544 11572544 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001372.3 +1 reviewed p.R965 0.860 116 0% 128 39.8% 1 100% - - - NULL DNAH9 1770 genome.wustl.edu 37 17 11593270 11593270 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001372.3 +1 reviewed p.Q1377H 1.000 21 0% 17 29.4% 1 0% benign(0.029) tolerated(0.1) neutral(0.288) HMMPfam_DHC_N2 HS3ST3A1 9955 genome.wustl.edu 37 17 13399761 13399761 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006042.1 -1 reviewed p.R325H 1.000 131 0% 157 21% 2 50% probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_Sulfotransfer_1,superfamily_P-loop containing nucleoside triphosphate hydrolases ZNF286A 57335 genome.wustl.edu 37 17 15619755 15619755 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001130842.1 +1 validated p.E239D 1.000 125 0.8% 153 79.7% 0 - benign(0.001) tolerated(0.56) neutral(0.006) superfamily_SSF57667 TBC1D26 353149 genome.wustl.edu 37 17 15642057 15642057 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_178571.4 +1 validated p.R137M 0.000 492 0.2% 544 30% 0 - probably_damaging(0.977) deleterious(0.04) deleterious(0.768) HMMPfam_TBC,HMMSmart_SM00164,superfamily_Ypt/Rab-GAP domain of gyp1p ZNF287 57336 genome.wustl.edu 37 17 16455780 16455780 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020653.2 -1 validated p.S559F 1.000 238 0% 262 46.2% 1 100% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_C2H2 and C2HC zinc fingers ZNF287 57336 genome.wustl.edu 37 17 16455886 16455886 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020653.2 -1 validated p.L524I 0.259 252 0% 325 47.7% 0 - possibly_damaging(0.533) tolerated(1) neutral(0.180) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF624 57547 genome.wustl.edu 37 17 16525619 16525619 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020787.2 -1 validated p.E861* 1.000 280 0% 381 40.4% 1 0% - - - superfamily_C2H2 and C2HC zinc fingers CCDC144A 9720 genome.wustl.edu 37 17 16612872 16612872 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014695.1 +1 provisional p.K501Q 0.997 430 0% 537 37.6% 0 - possibly_damaging(0.931) deleterious(0) deleterious(0.822) NULL MYO15A 51168 genome.wustl.edu 37 17 18023361 18023361 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016239.3 +1 reviewed p.P416L 0.170 31 0% 49 38.8% 0 - probably_damaging(0.997) - - NULL MYO15A 51168 genome.wustl.edu 37 17 18061076 18061076 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016239.3 +1 reviewed p.F2943L 1.000 23 0% 43 46.5% 0 - probably_damaging(0.994) - - HMMSmart_SM00326,superfamily_SH3-domain,HMMPfam_SH3_2 SMCR8 140775 genome.wustl.edu 37 17 18219626 18219626 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_144775.2 +1 validated p.E175K 0.976 85 0% 97 48.5% 1 100% benign(0.242) tolerated(0.24) neutral(0.062) NULL SMCR8 140775 genome.wustl.edu 37 17 18221238 18221238 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_144775.2 +1 validated p.K712T 0.980 49 0% 78 33.3% 18 55.5% benign(0.344) deleterious(0.03) deleterious(0.473) NULL LGALS9C 654346 genome.wustl.edu 37 17 18390984 18390984 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001040078.2 +1 validated p.F119 0.011 186 0% 252 28.6% 12 0% - - - HMMPfam_Gal-bind_lectin,HMMSmart_SM00276,superfamily_Concanavalin A-like lectins/glucanases ENSG00000154874 0 genome.wustl.edu 37 17 18455030 18455030 + Splice_Site SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000285176 -1 known NULL 0.008 121 0% 130 93.1% 0 - - - - - TBC1D28 254272 genome.wustl.edu 37 17 18541185 18541185 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001039397.2 -1 validated p.F163 0.007 351 0% 481 46.6% 0 - - - - superfamily_RabGAP_TBC ZNF286B 729288 genome.wustl.edu 37 17 18565946 18565946 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001145045.1 -1 validated p.Q291H 1.000 141 0% 201 47.3% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF286B 729288 genome.wustl.edu 37 17 18584073 18584073 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001145045.1 -1 validated p.R36H 0.947 176 0% 246 46.7% 0 - - - - NULL FBXW10 10517 genome.wustl.edu 37 17 18673282 18673282 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_031456.3 +1 validated p.S630 0.987 281 0% 371 48.5% 0 - - - - HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 PRPSAP2 5636 genome.wustl.edu 37 17 18814424 18814424 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002767.2 +1 reviewed p.S198Y 1.000 90 0% 108 35.2% 30 40% probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_SSF53271 MAPK7 5598 genome.wustl.edu 37 17 19284286 19284286 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002749.3 +1 reviewed p.M255R 1.000 43 0% 56 37.5% 14 42.8% unknown(0) deleterious(0) - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase MAPK7 5598 genome.wustl.edu 37 17 19285511 19285511 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002749.3 +1 reviewed p.A632V 0.000 11 0% 17 41.2% 16 31.2% unknown(0) tolerated(1) - NULL RNF112 7732 genome.wustl.edu 37 17 19319144 19319144 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_007148.4 +1 reviewed p.D519Y 0.012 22 0% 21 47.6% 0 - - - - NULL CCDC144C 348254 genome.wustl.edu 37 17 20224652 20224652 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000425519 +1 known p.K8T 0.034 70 0% 78 37.2% 0 - unknown(0) deleterious(0) - NULL CCDC144C 348254 genome.wustl.edu 37 17 20295809 20295809 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000425519 +1 known p.D1077N 0.273 85 0% 81 45.7% 0 - probably_damaging(0.996) tolerated(0.22) deleterious(0.504) NULL USP22 23326 genome.wustl.edu 37 17 20907564 20907564 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015276.1 -1 validated p.D496N 1.000 141 0.7% 172 48.3% 253 37.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_UCH,superfamily_Cysteine proteinases C17orf51 339263 genome.wustl.edu 37 17 21454638 21454638 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001113434.3 -1 validated p.D16 0.000 22 0% 31 19.4% 1 0% - - - NULL NOS2 4843 genome.wustl.edu 37 17 26087066 26087066 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000625.4 -1 reviewed p.G1050D 1.000 49 0% 47 19.1% 1 0% benign(0.137) tolerated(0.44) neutral(0.024) HMMPfam_NAD_binding_1,superfamily_Ferredoxin reductase-like C-terminal NADP-linked domain TMEM97 27346 genome.wustl.edu 37 17 26653578 26653578 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014573.2 +1 validated p.R97Q 1.000 139 0% 172 41.9% 14 28.5% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL POLDIP2 26073 genome.wustl.edu 37 17 26677487 26677487 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015584.3 -1 reviewed p.R296* 1.000 108 0% 161 16.1% 286 1.3% - - - HMMPfam_DUF525,superfamily_ApaG-like (Pfam 04379) UNC119 9094 genome.wustl.edu 37 17 26875664 26875664 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005148.3 -1 reviewed p.R94W 0.997 130 0% 180 37.2% 13 38.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_GMP_PDE_delta,superfamily_E set domains SPAG5 10615 genome.wustl.edu 37 17 26919171 26919171 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006461.3 -1 reviewed p.S364F 0.010 306 0% 358 41.3% 26 38.4% probably_damaging(0.979) deleterious(0.02) deleterious(0.805) NULL NEK8 284086 genome.wustl.edu 37 17 27067964 27067964 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_178170.2 +1 reviewed p.S565G 0.980 59 0% 98 40.8% 6 66.6% benign(0.15) tolerated(0.42) neutral(0.027) superfamily_RCC1/BLIP-II FLOT2 2319 genome.wustl.edu 37 17 27209178 27209178 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004475.2 -1 reviewed p.F219 0.993 70 0% 89 46.1% 176 46% - - - HMMSmart_PHB SEZ6 124925 genome.wustl.edu 37 17 27284209 27284209 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_178860.4 -1 validated p.R849Q 0.910 44 0% 53 50.9% 0 - benign(0) tolerated(1) - HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain MYO18A 399687 genome.wustl.edu 37 17 27414127 27414127 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_078471.3 -1 validated p.R1847C 1.000 62 0% 93 16.1% 14 21.4% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Prefoldin SSH2 85464 genome.wustl.edu 37 17 27959880 27959880 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_033389.2 -1 reviewed p.E751* 1.000 154 0% 184 42.4% 8 37.5% - - - NULL SSH2 85464 genome.wustl.edu 37 17 28011595 28011595 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_033389.2 -1 reviewed p.F128L 1.000 254 0% 239 45.2% 26 46.1% possibly_damaging(0.559) deleterious(0.02) deleterious(0.574) NULL EFCAB5 374786 genome.wustl.edu 37 17 28296127 28296127 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_198529.3 +1 validated p.N170T 0.992 69 0% 100 46% 0 - benign(0.001) tolerated(0.92) - NULL EFCAB5 374786 genome.wustl.edu 37 17 28320295 28320295 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_198529.3 +1 validated p.D294N 0.018 253 0% 256 42.6% 0 - benign(0.039) tolerated(0.35) neutral(0.022) superfamily_EF-hand TMIGD1 388364 genome.wustl.edu 37 17 28656384 28656384 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_206832.1 -1 provisional p.I82 1.000 215 0.5% 271 39.9% 0 - - - - HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin CPD 1362 genome.wustl.edu 37 17 28748801 28748801 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001304.3 +1 reviewed p.F419L 1.000 277 0% 277 41.5% 23 43.4% possibly_damaging(0.564) deleterious(0.01) deleterious(0.598) HMMSmart_Zn_pept,superfamily_CarboxypepD_reg GOSR1 9527 genome.wustl.edu 37 17 28846976 28846976 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004871.2 +1 reviewed p.E189* 1.000 255 0% 360 42.2% 10 10% - - - HMMPfam_V-SNARE ATAD5 79915 genome.wustl.edu 37 17 29161340 29161340 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024857.3 +1 provisional p.E81* 0.000 151 0% 191 47.6% 2 50% - - - NULL TEFM 79736 genome.wustl.edu 37 17 29227445 29227445 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024683.3 -1 validated p.V211I 0.002 116 0% 168 24.4% 2 50% benign(0) tolerated(0.62) neutral(0.004) superfamily_Ribonuclease H-like NF1 4763 genome.wustl.edu 37 17 29486040 29486040 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001042492.2 +1 reviewed p.E73* 1.000 195 0% 271 42.4% 1 100% - - - NULL NF1 4763 genome.wustl.edu 37 17 29548954 29548954 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001128147.2 +1 reviewed p.M576I 0.000 292 0% 247 36% 0 - benign(0) tolerated(0.36) neutral(0.020) NULL NF1 4763 genome.wustl.edu 37 17 29654757 29654757 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001042492.2 +1 reviewed p.D1837N 1.000 178 0% 267 14.6% 19 15.7% benign(0.081) tolerated(0.14) neutral(0.256) NULL NF1 4763 genome.wustl.edu 37 17 29657330 29657330 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001042492.2 +1 reviewed p.L1876I 1.000 285 0% 325 42.2% 1 100% probably_damaging(1) tolerated(0.07) deleterious(0.819) NULL RAB11FIP4 84440 genome.wustl.edu 37 17 29858736 29858736 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032932.3 +1 validated p.E634K 1.000 182 0% 239 13% 165 26.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RBD-FIP C17orf79 55352 genome.wustl.edu 37 17 30179933 30179933 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018405.3 -1 validated p.E95K 1.000 165 0% 243 46.1% 55 41.8% probably_damaging(0.979) deleterious(0) deleterious(0.867) NULL UTP6 55813 genome.wustl.edu 37 17 30200437 30200437 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018428.2 -1 validated p.R486* 1.000 153 0% 198 46.5% 6 0% - - - HMMSmart_HAT,superfamily_SSF48452 UTP6 55813 genome.wustl.edu 37 17 30207638 30207638 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018428.2 -1 validated p.E307 1.000 178 0.6% 229 52.8% 39 71.7% - - - HMMSmart_HAT,superfamily_SSF48452 RHBDL3 162494 genome.wustl.edu 37 17 30594934 30594934 + Missense_Mutation SNP T T A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_138328.2 +1 validated p.L42Q 1.000 256 0% 374 43.3% 2 100% benign(0.076) deleterious(0) neutral(0.450) superfamily_SSF47473 PSMD11 5717 genome.wustl.edu 37 17 30807637 30807637 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000457654 +1 known p.E157* 1.000 99 0% 108 46.3% 21 61.9% benign(0.212) tolerated(0.24) neutral(0.058) NULL CDK5R1 8851 genome.wustl.edu 37 17 30815532 30815532 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003885.2 +1 reviewed p.K298N 1.000 62 0% 90 42.2% 2 50% benign(0.059) tolerated(0.46) neutral(0.016) NULL TMEM98 26022 genome.wustl.edu 37 17 31260261 31260261 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001033504.1 +1 validated p.V67 0.999 191 0% 271 47.6% 97 16.4% - - - NULL ENSG00000226049 0 genome.wustl.edu 37 17 32365738 32365738 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000430493 -1 known p.E327D 1.000 189 0% 280 41.8% 1 0% - - - NULL ENSG00000226049 0 genome.wustl.edu 37 17 32366710 32366710 + Missense_Mutation SNP C C T rs189847872 by1000genomes TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000430493 -1 known p.R60Q 0.997 227 0% 259 47.9% 0 - - - - NULL TMEM132E 124842 genome.wustl.edu 37 17 32959785 32959785 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_207313.1 +1 provisional p.A425 1.000 92 0% 145 44.8% 1 0% - - - NULL CCT6B 10693 genome.wustl.edu 37 17 33257980 33257980 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006584.2 -1 reviewed p.D480Y 0.986 329 0% 416 37.7% 3 33.3% probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_Cpn60_TCP1,superfamily_GroEL equatorial domain-like LIG3 3980 genome.wustl.edu 37 17 33316505 33316505 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_013975.2 +1 reviewed p.E238K 0.001 96 0% 94 41.5% 6 16.6% benign(0.005) tolerated(0.89) - NULL SLFN5 162394 genome.wustl.edu 37 17 33592485 33592485 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_144975.3 +1 validated p.Q752K 0.000 226 0% 304 26% 10 30% benign(0.311) tolerated(0.08) neutral(0.397) superfamily_P-loop containing nucleoside triphosphate hydrolases SLFN11 91607 genome.wustl.edu 37 17 33679773 33679773 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001104587.1 -1 validated p.S770P 0.453 125 0% 102 43.1% 2 0% benign(0.005) tolerated(0.26) neutral(0.034) superfamily_P-loop containing nucleoside triphosphate hydrolases SLFN11 91607 genome.wustl.edu 37 17 33690380 33690380 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001104587.1 -1 validated p.F149 0.001 152 0% 190 42.1% 0 - - - - NULL PEX12 5193 genome.wustl.edu 37 17 33904276 33904276 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000286.2 -1 reviewed p.R154Q 1.000 131 0% 158 30.4% 2 0% benign(0.016) tolerated(0.39) neutral(0.017) HMMPfam_Pex2_Pex12 PEX12 5193 genome.wustl.edu 37 17 33904322 33904322 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000286.2 -1 reviewed p.E139* 1.000 93 0% 113 47.8% 1 100% - - - HMMPfam_Pex2_Pex12 MMP28 79148 genome.wustl.edu 37 17 34093521 34093521 + Nonstop_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000338839 -1 known p.*520R 1.000 37 0% 28 17.9% 0 - - - - NULL CCL4 6351 genome.wustl.edu 37 17 34432007 34432007 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002984.2 +1 validated p.S55G 1.000 166 0% 194 37.6% 5 0% possibly_damaging(0.465) deleterious(0) deleterious(0.598) PatternScan_SMALL_CYTOKINES_CC,HMMPfam_IL8,HMMSmart_SCY,superfamily_Chemokine_IL8 PIGW 284098 genome.wustl.edu 37 17 34893597 34893597 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_178517.3 +1 validated p.R216Q 0.993 323 0% 408 43.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL LHX1 3975 genome.wustl.edu 37 17 35300087 35300087 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005568.2 +1 reviewed p.D294N 1.000 20 0% 26 42.3% 0 - possibly_damaging(0.719) deleterious(0.01) deleterious(0.666) NULL DDX52 11056 genome.wustl.edu 37 17 35992283 35992283 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_007010.2 -1 validated p.D155N 1.000 330 0% 414 49% 6 16.6% benign(0.003) tolerated(0.34) neutral(0.023) superfamily_P-loop containing nucleoside triphosphate hydrolases GPR179 440435 genome.wustl.edu 37 17 36483074 36483074 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001004334.2 -1 validated p.K2126 0.278 124 0% 151 49% 0 - - - - NULL GPR179 440435 genome.wustl.edu 37 17 36485944 36485944 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001004334.2 -1 validated p.R1170W 0.247 325 0% 426 46.7% 0 - possibly_damaging(0.95) deleterious(0) deleterious(0.838) NULL MLLT6 4302 genome.wustl.edu 37 17 36872948 36872948 + Silent SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005937.3 +1 validated p.A455 0.197 29 0% 38 39.5% 20 35% - - - NULL FLJ43826 342666 genome.wustl.edu 37 17 37195758 37195758 + RNA SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XR_040620.2 +1 model NULL 0.994 235 0% 305 41.3% 0 - - - - - MED1 5469 genome.wustl.edu 37 17 37565509 37565509 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004774.3 -1 reviewed p.D989Y 1.000 279 0% 306 49.3% 5 60% unknown(0) deleterious(0) - NULL MED1 5469 genome.wustl.edu 37 17 37587391 37587391 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004774.3 -1 reviewed p.G209V 1.000 255 0% 322 42.5% 11 72.7% unknown(0) deleterious(0) - HMMPfam_Med1-Trap220 CDK12 51755 genome.wustl.edu 37 17 37673804 37673804 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016507.2 +1 validated p.F986L 1.000 259 0% 337 43.6% 23 43.4% unknown(0) deleterious(0.05) - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase PGAP3 93210 genome.wustl.edu 37 17 37829371 37829371 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_033419.3 -1 validated p.F278V 1.000 53 0% 64 45.3% 129 49.6% benign(0.389) tolerated(0.13) neutral(0.377) HMMPfam_Per1 MED24 9862 genome.wustl.edu 37 17 38179522 38179522 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014815.3 -1 reviewed p.K704 1.000 60 0% 74 50% 105 46.6% - - - NULL CASC3 22794 genome.wustl.edu 37 17 38319103 38319103 + Missense_Mutation SNP G G A rs183006262 by1000genomes TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_007359.4 +1 reviewed p.R245H 1.000 116 0% 173 45.7% 17 23.5% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Btz KRTAP3-3 85293 genome.wustl.edu 37 17 39150067 39150067 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_033185.2 -1 reviewed p.P95S 0.979 158 0% 244 14.8% 0 - probably_damaging(0.99) tolerated(0.1) deleterious(0.728) HMMPfam_Keratin_matx KRTAP4-9 100132386 genome.wustl.edu 37 17 39261976 39261976 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_002343553.1 +1 model p.R106Q 0.041 59 0% 89 38.2% 0 - - - - NULL KRT16 3868 genome.wustl.edu 37 17 39767176 39767176 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005557.3 -1 reviewed p.R330H 0.069 81 0% 127 29.1% 81 50.6% possibly_damaging(0.939) deleterious(0.04) deleterious(0.734) HMMPfam_Filament KRT16 3868 genome.wustl.edu 37 17 39767952 39767952 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005557.3 -1 reviewed p.N185H 1.000 106 0% 149 24.8% 132 43.9% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Filament KRT17 3872 genome.wustl.edu 37 17 39777096 39777096 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000422.2 -1 reviewed p.E332D 1.000 49 0% 74 20.3% 1115 34.6% possibly_damaging(0.515) deleterious(0.04) deleterious(0.522) HMMPfam_Filament LEPREL4 10609 genome.wustl.edu 37 17 39966013 39966013 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006455.2 -1 validated p.F287 0.790 78 0% 103 49.5% 33 0% - - - NULL ACLY 47 genome.wustl.edu 37 17 40025332 40025332 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001096.2 -1 reviewed p.F1033C 1.000 194 0% 232 39.2% 216 51.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_Citrate_synthase_core RAB5C 5878 genome.wustl.edu 37 17 40280381 40280381 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004583.2 -1 validated p.K113N 1.000 154 0.6% 188 13.8% 356 13.7% probably_damaging(0.974) deleterious(0) deleterious(0.861) HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases STAT3 6774 genome.wustl.edu 37 17 40481436 40481436 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_139276.2 -1 reviewed p.N425D 1.000 231 0% 305 43.6% 74 35.1% possibly_damaging(0.942) deleterious(0.04) deleterious(0.736) superfamily_p53-like transcription factors,HMMPfam_STAT_bind PSMC3IP 29893 genome.wustl.edu 37 17 40725568 40725568 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016556.2 -1 validated p.C137 1.000 371 0% 589 47% 18 44.4% - - - HMMPfam_TBPIP RAMP2 10266 genome.wustl.edu 37 17 40914461 40914461 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005854.2 +1 reviewed p.C84 0.855 147 0% 251 38.6% 19 0% - - - HMMPfam_RAMP WNK4 65266 genome.wustl.edu 37 17 40939380 40939380 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032387.4 +1 reviewed p.R521C 1.000 72 0% 109 41.3% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Protein kinase-like (PK-like) BRCA1 672 genome.wustl.edu 37 17 41244663 41244663 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_007294.3 -1 reviewed p.E962A 0.760 113 0% 159 44% 1 100% probably_damaging(0.959) deleterious(0) deleterious(0.847) NULL BRCA1 672 genome.wustl.edu 37 17 41245720 41245720 + Silent SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_007294.3 -1 reviewed p.R610 0.982 109 0% 116 50% 0 - - - - NULL BRCA1 672 genome.wustl.edu 37 17 41245866 41245866 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_007294.3 -1 reviewed p.S561Y 0.025 191 0% 245 51.8% 0 - benign(0.001) tolerated(0.52) neutral(0.009) NULL HDAC5 10014 genome.wustl.edu 37 17 42164978 42164978 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001015053.1 -1 reviewed p.V563 0.931 68 0% 110 49.1% 17 17.6% - - - NULL C17orf53 78995 genome.wustl.edu 37 17 42231999 42231999 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024032.3 +1 validated p.M510V 0.042 101 0% 123 16.3% 5 20% benign(0.004) tolerated(0.42) neutral(0.014) NULL ASB16 92591 genome.wustl.edu 37 17 42254991 42254991 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_080863.4 +1 reviewed p.C359 1.000 125 0% 188 46.3% 23 47.8% - - - superfamily_Ankyrin repeat GPATCH8 23131 genome.wustl.edu 37 17 42478686 42478686 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001002909.1 -1 validated p.F253L 0.217 140 0% 147 21.1% 10 40% unknown(0) tolerated(1) - NULL C17orf104 284071 genome.wustl.edu 37 17 42744313 42744313 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001145080.2 +1 validated p.F345C 1.000 86 0% 105 43.8% 0 - probably_damaging(0.994) tolerated(0.18) deleterious(0.508) NULL EFTUD2 9343 genome.wustl.edu 37 17 42942432 42942432 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004247.3 -1 validated p.V384A 1.000 90 0% 119 47.9% 44 40.9% benign(0.132) tolerated(0.07) neutral(0.330) HMMPfam_GTP_EFTU,superfamily_SSF52540 C1QL1 10882 genome.wustl.edu 37 17 43044895 43044895 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006688.3 -1 provisional p.Y174* 1.000 64 0% 96 34.4% 2 0% - - - HMMPfam_C1q,HMMSmart_C1Q,superfamily_TNF_like MAP3K14 9020 genome.wustl.edu 37 17 43362317 43362317 + Splice_Site SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000344686 -1 known e6-1 1.000 74 0% 75 46.7% 0 - - - - - LRRC37A4P 55073 genome.wustl.edu 37 17 43591897 43591897 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000443126 -1 known p.P29L 0.002 131 0% 135 23% 0 - - - - NULL MAPT 4137 genome.wustl.edu 37 17 44060842 44060842 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001123066.3 +1 validated p.V224 0.016 7 0.000 7 0.571 0 - - - - NULL NSF 4905 genome.wustl.edu 37 17 44806274 44806274 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006178.2 +1 validated p.V628I 1.000 372 0% 455 38.5% 11 27.2% benign(0.136) deleterious(0.02) neutral(0.395) HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases WNT3 7473 genome.wustl.edu 37 17 44895948 44895948 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_030753.3 -1 reviewed p.L6F 1.000 11 0% 23 43.5% 0 - unknown(0) tolerated(0.28) - NULL WNT9B 7484 genome.wustl.edu 37 17 44953726 44953726 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003396.1 +1 reviewed p.K239R 1.000 22 0% 30 43.3% 0 - probably_damaging(0.999) tolerated(0.17) deleterious(0.549) HMMPfam_wnt,HMMSmart_SM00097 ENSG00000250104 0 genome.wustl.edu 37 17 45128752 45128752 + RNA SNP T T A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000508811 -1 novel NULL 0.129 571 0.2% 632 34.2% 1 100% - - - - ENSG00000228782 0 genome.wustl.edu 37 17 45560403 45560403 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000425159 -1 known p.E138A 1.000 187 0% 205 19% 3 33.3% - - - HMMPfam_Tim44 NPEPPS 9520 genome.wustl.edu 37 17 45663554 45663554 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006310.3 +1 reviewed p.N297S 1.000 253 0% 335 15.8% 32 31.2% benign(0.002) tolerated(0.4) neutral(0.016) HMMPfam_Peptidase_M1,superfamily_SSF55486 KPNB1 3837 genome.wustl.edu 37 17 45755448 45755448 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000290158 +1 known p.L714M 1.000 401 0% 520 19.2% 79 24% possibly_damaging(0.949) deleterious(0.01) deleterious(0.798) superfamily_ARM repeat TTLL6 284076 genome.wustl.edu 37 17 46874456 46874456 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001130918.1 -1 validated p.T293 0.000 200 0% 237 13.9% 0 - - - - HMMPfam_TTL,superfamily_Glutathione synthetase ATP-binding domain-like UBE2Z 65264 genome.wustl.edu 37 17 47000242 47000242 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_023079.3 +1 validated p.Y279 0.982 171 0.6% 247 42.9% 34 41.1% - - - NULL B4GALNT2 124872 genome.wustl.edu 37 17 47218678 47218678 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_153446.2 +1 validated p.F88 0.000 192 0% 234 50.9% 0 - - - - NULL ABI3 51225 genome.wustl.edu 37 17 47295199 47295199 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016428.2 +1 reviewed p.E128D 0.281 141 0% 176 46% 11 0% benign(0.019) tolerated(0.08) neutral(0.301) HMMPfam_Abi_HHR ITGA3 3675 genome.wustl.edu 37 17 48148265 48148265 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005501.2 +1 reviewed p.D241G 0.997 238 0% 238 41.6% 54 48.1% benign(0) tolerated(0.61) neutral(0.004) superfamily_Integrin alpha N-terminal domain COL1A1 1277 genome.wustl.edu 37 17 48272143 48272143 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000088.3 -1 reviewed p.G467V 1.000 26 0% 37 32.4% 687 1% unknown(0) deleterious(0.04) - HMMPfam_Collagen EPN3 55040 genome.wustl.edu 37 17 48618600 48618600 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017957.2 +1 validated p.S420 0.003 289 0% 377 39% 13 53.8% - - - NULL LUC7L3 51747 genome.wustl.edu 37 17 48821073 48821073 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006107.3 +1 reviewed p.E145* 1.000 191 0% 223 21.5% 4 25% - - - HMMPfam_LUC7 NME1 4830 genome.wustl.edu 37 17 49237387 49237387 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_198175.1 +1 reviewed p.R83H 1.000 106 0% 151 49.7% 484 44% benign(0.383) deleterious(0) deleterious(0.567) HMMPfam_NDK,HMMSmart_NDK,superfamily_NDK TOM1L1 10040 genome.wustl.edu 37 17 53014508 53014508 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005486.2 +1 validated p.L318 0.741 141 0% 180 47.8% 61 57.3% - - - NULL ANKFN1 162282 genome.wustl.edu 37 17 54431197 54431197 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_153228.2 +1 validated p.N134H 1.000 101 0% 154 42.9% 1 0% possibly_damaging(0.678) tolerated(0.15) deleterious(0.482) NULL COIL 8161 genome.wustl.edu 37 17 55023818 55023818 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004645.2 -1 reviewed p.L515I 1.000 312 0% 340 44.1% 4 25% possibly_damaging(0.862) tolerated(0.5) neutral(0.343) NULL AKAP1 8165 genome.wustl.edu 37 17 55182829 55182829 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003488.3 +1 reviewed p.A2T 1.000 64 0% 88 36.4% 13 69.2% benign(0.1) tolerated(0.14) neutral(0.257) NULL LPO 4025 genome.wustl.edu 37 17 56327949 56327949 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006151.2 +1 reviewed p.Y249* 0.971 55 0% 99 43.4% 0 - - - - HMMPfam_An_peroxidase,superfamily_Peroxidase_super BZRAP1 9256 genome.wustl.edu 37 17 56388244 56388244 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004758.2 -1 validated p.E1138* 0.066 16 0% 21 23.8% 1 0% - - - NULL HSF5 124535 genome.wustl.edu 37 17 56557590 56557590 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001080439.1 -1 provisional p.R197* 1.000 70 0% 76 21.1% 0 - - - - HMMPfam_HSF_DNA-bind MTMR4 9110 genome.wustl.edu 37 17 56573340 56573340 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004687.4 -1 validated p.E721D 0.971 233 0% 325 45.5% 8 50% possibly_damaging(0.686) tolerated(0.43) neutral(0.259) NULL TEX14 56155 genome.wustl.edu 37 17 56649280 56649280 + Splice_Site SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_198393.2 -1 reviewed e24+2 0.998 78 0% 102 47.1% 0 - - - - - TEX14 56155 genome.wustl.edu 37 17 56682438 56682438 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_198393.2 -1 reviewed p.L413I 0.984 238 0% 310 43.2% 0 - probably_damaging(0.973) deleterious(0.01) deleterious(0.821) HMMPfam_Pkinase_Tyr,superfamily_Kinase_like ENSG00000227324 0 genome.wustl.edu 37 17 56738876 56738876 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000453538 -1 known p.E29K 0.998 63 0% 54 53.7% 0 - - - - HMMPfam_TAP42 RAD51C 5889 genome.wustl.edu 37 17 56780563 56780563 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_058216.1 +1 reviewed p.R193Q 0.535 261 0% 308 42.5% 3 33.3% benign(0.001) tolerated(0.61) neutral(0.004) HMMSmart_AAA,HMMPfam_Rad51,superfamily_SSF52540 PPM1E 22843 genome.wustl.edu 37 17 57057779 57057779 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014906.3 +1 reviewed p.R552I 1.000 93 0% 136 39% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL PPM1E 22843 genome.wustl.edu 37 17 57057860 57057860 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014906.3 +1 reviewed p.K579T 1.000 130 0% 165 39.4% 0 - benign(0.002) deleterious(0) neutral(0.445) NULL TRIM37 4591 genome.wustl.edu 37 17 57126732 57126732 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001005207.2 -1 reviewed p.R446Q 1.000 153 0% 278 48.6% 8 37.5% probably_damaging(1) tolerated(0.07) deleterious(0.819) NULL TRIM37 4591 genome.wustl.edu 37 17 57181717 57181717 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001005207.2 -1 reviewed p.E20D 1.000 160 0% 166 42.8% 14 50% benign(0.307) tolerated(0.15) neutral(0.337) superfamily_RING/U-box SMG8 55181 genome.wustl.edu 37 17 57288693 57288693 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018149.6 +1 validated p.F427 1.000 88 0% 111 46.8% 8 50% - - - HMMPfam_DUF2146 SMG8 55181 genome.wustl.edu 37 17 57290753 57290753 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018149.6 +1 validated p.R857W 1.000 253 0% 327 46.2% 9 33.3% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_DUF2146 RPS6KB1 6198 genome.wustl.edu 37 17 57990134 57990134 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003161.2 +1 reviewed p.L94R 1.000 258 0% 306 43.5% 2 100% possibly_damaging(0.532) deleterious(0.03) deleterious(0.544) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase HEATR6 63897 genome.wustl.edu 37 17 58148077 58148077 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_022070.4 -1 validated p.A264V 1.000 298 0% 430 17.4% 3 0% unknown(0) deleterious(0.02) - NULL BRIP1 83990 genome.wustl.edu 37 17 59763509 59763509 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032043.1 -1 reviewed p.R865W 0.980 72 0% 91 49.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL INTS2 57508 genome.wustl.edu 37 17 59984900 59984900 + Silent SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020748.2 -1 validated p.R358 1.000 178 0% 233 48.1% 8 37.5% - - - NULL MED13 9969 genome.wustl.edu 37 17 60040321 60040321 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005121.2 -1 reviewed p.R1619Q 1.000 87 0% 133 36.1% 18 61.1% benign(0.233) tolerated(0.2) neutral(0.073) HMMPfam_TRAP_240kDa EFCAB3 146779 genome.wustl.edu 37 17 60493542 60493542 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001144933.1 +1 validated p.S442Y 0.996 157 0% 250 39.6% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL MRC2 9902 genome.wustl.edu 37 17 60767314 60767314 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006039.3 +1 validated p.D1211 0.757 8 0.000 18 0.667 24 37.5% - - - HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like TANC2 26115 genome.wustl.edu 37 17 61417585 61417585 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_025185.3 +1 validated p.L493I 1.000 84 0% 111 47.7% 2 0% benign(0.147) tolerated(0.32) neutral(0.037) superfamily_P-loop containing nucleoside triphosphate hydrolases TANC2 26115 genome.wustl.edu 37 17 61417666 61417666 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_025185.3 +1 validated p.L520M 1.000 50 0% 57 40.4% 0 - probably_damaging(0.964) deleterious(0) deleterious(0.851) superfamily_P-loop containing nucleoside triphosphate hydrolases LOC342541 342541 genome.wustl.edu 37 17 61549201 61549201 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_292596.4 +1 model p.E84D 1.000 68 0% 77 41.6% 0 - - - - HMMPfam_Pro_isomerase,superfamily_Cyclophilin-like KCNH6 81033 genome.wustl.edu 37 17 61619615 61619615 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_030779.2 +1 reviewed p.I656 0.999 42 0% 61 42.6% 0 - - - - HMMPfam_cNMP_binding,HMMSmart_SM00100,superfamily_cAMP-binding domain-like PSMC5 5705 genome.wustl.edu 37 17 61908745 61908745 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002805.4 +1 reviewed p.R310H 0.998 64 0% 70 38.6% 152 42.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00382,HMMPfam_AAA,superfamily_P-loop containing nucleoside triphosphate hydrolases SCN4A 6329 genome.wustl.edu 37 17 62026030 62026030 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000334.4 -1 reviewed p.E1029K 1.000 59 0% 63 49.2% 0 - benign(0.076) tolerated(0.08) neutral(0.305) HMMPfam_Na_trans_assoc,superfamily_Voltage-gated potassium channels TEX2 55852 genome.wustl.edu 37 17 62272408 62272408 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018469.3 -1 validated p.A564 0.221 242 0% 317 40.4% 2 100% - - - HMMSmart_PH AXIN2 8313 genome.wustl.edu 37 17 63533621 63533621 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004655.3 -1 reviewed p.T511 0.940 202 0% 275 48.7% 8 25% - - - NULL CEP112 201134 genome.wustl.edu 37 17 63848065 63848065 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_145036.3 -1 validated p.L751I 1.000 220 0% 308 24.7% 4 0% probably_damaging(0.971) tolerated(0.46) neutral(0.425) NULL CEP112 201134 genome.wustl.edu 37 17 64024447 64024447 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_145036.3 -1 validated p.R527I 1.000 356 0% 517 42.7% 0 - probably_damaging(0.991) deleterious(0.01) deleterious(0.850) NULL CEP112 201134 genome.wustl.edu 37 17 64026126 64026126 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_145036.3 -1 validated p.E412* 1.000 189 0% 246 45.9% 3 0% - - - NULL PRKCA 5578 genome.wustl.edu 37 17 64492393 64492393 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002737.2 +1 reviewed p.D94N 1.000 272 0% 432 48.8% 0 - benign(0.05) tolerated(0.11) neutral(0.275) NULL PRKCA 5578 genome.wustl.edu 37 17 64641613 64641613 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002737.2 +1 reviewed p.E171D 0.717 188 0% 253 46.6% 0 - benign(0) tolerated(0.97) - superfamily_C2 domain (Calcium/lipid-binding domain CaLB) CACNG4 27092 genome.wustl.edu 37 17 65014337 65014337 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014405.2 +1 reviewed p.H85N 1.000 122 0% 137 48.2% 5 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_PMP22_Claudin HELZ 9931 genome.wustl.edu 37 17 65163687 65163687 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014877.3 -1 validated p.E552D 1.000 338 0% 455 42.6% 1 100% benign(0.044) tolerated(0.11) neutral(0.274) NULL NOL11 25926 genome.wustl.edu 37 17 65715895 65715895 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015462.3 +1 provisional p.D83Y 1.000 104 0% 126 10.3% 23 13% probably_damaging(1) deleterious(0) deleterious(0.945) NULL BPTF 2186 genome.wustl.edu 37 17 65888128 65888128 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_182641.3 +1 reviewed p.K678T 1.000 65 0% 94 34% 6 16.6% possibly_damaging(0.674) tolerated(0.12) deleterious(0.500) NULL AMZ2 51321 genome.wustl.edu 37 17 66250635 66250635 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001033569.1 +1 validated p.S226* 0.002 177 0% 210 40.5% 10 0% - - - "HMMPfam_Peptidase_M54,superfamily_Metalloproteases (""zincins"") catalytic domain" SLC16A6 9120 genome.wustl.edu 37 17 66268802 66268802 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004694.4 -1 validated p.F161 0.058 202 0% 256 44.1% 1 0% - - - HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter SLC16A6 9120 genome.wustl.edu 37 17 66274339 66274339 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004694.4 -1 validated p.I41 1.000 142 0% 191 48.7% 0 - - - - HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter ABCA8 10351 genome.wustl.edu 37 17 66880023 66880023 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_007168.2 -1 reviewed p.P1166S 1.000 168 0% 234 40.6% 0 - probably_damaging(1) tolerated(0.06) deleterious(0.823) NULL ABCA8 10351 genome.wustl.edu 37 17 66937057 66937057 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_007168.2 -1 reviewed p.P48H 0.001 113 0% 155 36.8% 1 0% possibly_damaging(0.658) deleterious(0.03) deleterious(0.597) NULL ABCA6 23460 genome.wustl.edu 37 17 67082843 67082843 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_080284.2 -1 reviewed p.E1285* 1.000 499 0% 650 44.3% 0 - - - - superfamily_P-loop containing nucleoside triphosphate hydrolases ABCA6 23460 genome.wustl.edu 37 17 67094159 67094159 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_080284.2 -1 reviewed p.G1008* 0.000 114 0% 148 28.4% 0 - - - - NULL ABCA6 23460 genome.wustl.edu 37 17 67110931 67110931 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_080284.2 -1 reviewed p.G585V 1.000 348 0% 418 42.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases ABCA6 23460 genome.wustl.edu 37 17 67114056 67114056 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_080284.2 -1 reviewed p.K493R 1.000 293 0% 350 41.4% 0 - benign(0.309) tolerated(0.26) neutral(0.131) superfamily_P-loop containing nucleoside triphosphate hydrolases ABCA6 23460 genome.wustl.edu 37 17 67129836 67129836 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_080284.2 -1 reviewed p.R246I 1.000 309 0% 322 40.7% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL ABCA10 10349 genome.wustl.edu 37 17 67178399 67178399 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_080282.3 -1 reviewed p.K888N 0.327 117 0% 122 40.2% 0 - probably_damaging(0.975) tolerated(0.13) deleterious(0.669) NULL ABCA5 23461 genome.wustl.edu 37 17 67293342 67293342 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018672.3 -1 reviewed p.E476* 1.000 106 0% 135 54.8% 0 - - - - NULL KCNJ16 3773 genome.wustl.edu 37 17 68128924 68128924 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018658.1 +1 reviewed p.T232 0.995 43 0% 68 47.1% 1 100% - - - HMMPfam_IRK,superfamily_Ig_E-set KCNJ2 3759 genome.wustl.edu 37 17 68171955 68171955 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000891.2 +1 reviewed p.D259N 1.000 185 0% 255 43.9% 1 0% probably_damaging(1) tolerated(0.21) deleterious(0.544) HMMPfam_IRK,superfamily_E set domains SOX9 6662 genome.wustl.edu 37 17 70120448 70120448 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000346.3 +1 reviewed p.S484A 0.983 81 0% 127 48% 16 43.7% benign(0) tolerated(0.48) neutral(0.011) NULL SDK2 54549 genome.wustl.edu 37 17 71334847 71334847 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001144952.1 -1 provisional p.R2133Q 1.000 135 0% 204 36.3% 49 40.8% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL SDK2 54549 genome.wustl.edu 37 17 71415386 71415386 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001144952.1 -1 provisional p.R702Q 1.000 194 0% 207 49.3% 10 40% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III DNAI2 64446 genome.wustl.edu 37 17 72278079 72278079 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_023036.4 +1 reviewed p.F41 0.859 48 0% 59 47.5% 3 0% - - - NULL DNAI2 64446 genome.wustl.edu 37 17 72283194 72283194 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_023036.4 +1 reviewed p.V142M 0.983 155 0% 194 18.6% 3 0% benign(0.186) tolerated(0.15) neutral(0.259) NULL LOC100289576 100289576 genome.wustl.edu 37 17 72436926 72436926 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_002343581.1 -1 model p.E153K 0.998 123 0% 160 20.6% 199 25.1% - - - NULL CD300LB 124599 genome.wustl.edu 37 17 72522080 72522080 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_174892.2 -1 validated p.K96N 0.000 265 0% 373 27.6% 0 - benign(0.021) tolerated(0.15) neutral(0.242) HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin OTOP2 92736 genome.wustl.edu 37 17 72929470 72929470 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_178160.2 +1 validated p.L507 1.000 82 0% 124 47.6% 0 - - - - HMMPfam_DUF270 CDR2L 30850 genome.wustl.edu 37 17 72995709 72995709 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014603.2 +1 validated p.E64K 1.000 105 0% 111 37.8% 29 55.1% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL CDR2L 30850 genome.wustl.edu 37 17 72998244 72998244 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014603.2 +1 validated p.R143* 0.888 30 0% 56 50% 31 29% - - - NULL NUP85 79902 genome.wustl.edu 37 17 73231285 73231285 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024844.3 +1 reviewed p.E620K 0.057 291 0% 330 19.1% 32 9.3% benign(0.001) tolerated(0.76) neutral(0.001) NULL GGA3 23163 genome.wustl.edu 37 17 73235896 73235896 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_138619.2 -1 reviewed p.L519 0.000 37 0% 24 16.7% 15 13.3% - - - NULL GGA3 23163 genome.wustl.edu 37 17 73238523 73238523 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_138619.2 -1 reviewed p.R214H 1.000 217 0% 340 44.4% 42 54.7% probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMPfam_GAT,superfamily_GAT-like domain KIAA0195 9772 genome.wustl.edu 37 17 73489961 73489961 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014738.4 +1 validated p.K791E 1.000 21 0% 22 50% 46 39.1% probably_damaging(0.995) tolerated(0.05) deleterious(0.803) NULL UNC13D 201294 genome.wustl.edu 37 17 73832757 73832757 + Silent SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_199242.2 -1 reviewed p.S398 0.942 78 0% 78 39.7% 7 42.8% - - - NULL CDK3 1018 genome.wustl.edu 37 17 73999285 73999285 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001258.2 +1 validated p.K200Q 1.000 132 0% 128 43% 16 43.7% benign(0.163) tolerated(0.09) neutral(0.311) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase CDK3 1018 genome.wustl.edu 37 17 73999286 73999286 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001258.2 +1 validated p.K200T 1.000 134 0% 131 43.5% 16 43.7% benign(0.28) deleterious(0.02) deleterious(0.469) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase MFSD11 79157 genome.wustl.edu 37 17 74765944 74765944 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024311.2 +1 provisional p.E289* 1.000 449 0% 437 43.2% 3 33.3% - - - superfamily_MFS general substrate transporter SEPT9 10801 genome.wustl.edu 37 17 75486856 75486856 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001113491.1 +1 reviewed p.R432H 1.000 101 0% 171 39.2% 495 49.6% benign(0.076) tolerated(0.13) neutral(0.258) HMMPfam_Septin,superfamily_P-loop containing nucleoside triphosphate hydrolases BIRC5 332 genome.wustl.edu 37 17 76219693 76219693 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001012270.1 +1 reviewed p.F123 0.000 72 0% 98 51% 11 45.4% - - - NULL BIRC5 332 genome.wustl.edu 37 17 76219734 76219734 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001012270.1 +1 reviewed p.S137Y 0.043 61 0% 111 42.3% 19 52.6% unknown(0) - - NULL DNAH17 8632 genome.wustl.edu 37 17 76423138 76423138 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000389840 -1 known p.M4237V 1.000 56 0% 69 10.1% 0 - benign(0.009) tolerated(0.18) neutral(0.057) HMMPfam_Dynein_heavy DNAH17 8632 genome.wustl.edu 37 17 76451753 76451753 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000389840 -1 known p.F3367L 0.001 67 0% 92 41.3% 0 - benign(0.055) tolerated(0.67) neutral(0.006) NULL DNAH17 8632 genome.wustl.edu 37 17 76490218 76490218 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000389840 -1 known p.A2089V 0.998 29 0% 40 60% 0 - benign(0.001) deleterious(0.01) neutral(0.406) superfamily_P-loop containing nucleoside triphosphate hydrolases USP36 57602 genome.wustl.edu 37 17 76832399 76832399 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_025090.3 -1 validated p.K16T 1.000 98 0% 92 41.3% 10 50% probably_damaging(0.982) deleterious(0) deleterious(0.871) NULL LGALS3BP 3959 genome.wustl.edu 37 17 76968555 76968555 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005567.3 -1 reviewed p.F287 0.998 19 0% 20 35% 825 24.8% - - - HMMPfam_BACK CCDC40 55036 genome.wustl.edu 37 17 78058746 78058746 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017950.2 +1 validated p.F732V 0.064 44 0% 71 35.2% 6 66.6% benign(0.252) tolerated(0.53) neutral(0.034) NULL ENSG00000173818 0 genome.wustl.edu 37 17 78409985 78409985 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000397538 +1 known p.R62Q 0.034 222 0% 304 38.8% 23 8.6% - - - NULL RPTOR 57521 genome.wustl.edu 37 17 78796919 78796919 + Silent SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020761.2 +1 reviewed p.A344 0.729 234 0% 281 47.7% 4 50% - - - NULL BAIAP2 10458 genome.wustl.edu 37 17 79073733 79073733 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017451.2 +1 reviewed p.I165 0.078 44 0% 68 45.6% 277 42.5% - - - HMMPfam_IMD BAIAP2 10458 genome.wustl.edu 37 17 79079896 79079896 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017451.2 +1 reviewed p.F429L 1.000 124 0% 152 36.8% 147 44.8% probably_damaging(0.99) tolerated(0.16) deleterious(0.501) HMMSmart_SM00326,superfamily_SH3-domain,HMMPfam_SH3_2 HGS 9146 genome.wustl.edu 37 17 79668134 79668134 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004712.3 +1 provisional p.I732 0.011 92 0% 106 44.3% 210 40.9% - - - NULL FAM195B 348262 genome.wustl.edu 37 17 79781126 79781126 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001093767.1 -1 validated p.S97 0.998 46 0% 68 35.3% 58 37.9% - - - NULL NOTUM 147111 genome.wustl.edu 37 17 79914800 79914800 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_178493.5 -1 validated p.T282 0.044 29 0% 45 46.7% 2 50% - - - HMMPfam_PAE FASN 2194 genome.wustl.edu 37 17 80046167 80046167 + Silent SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004104.4 -1 reviewed p.S870 0.270 59 0% 89 34.8% 152 47.3% - - - NULL RAB40B 10966 genome.wustl.edu 37 17 80615899 80615899 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006822.2 -1 reviewed p.S226L 1.000 174 0% 226 46% 21 71.4% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_SOCS_box,HMMSmart_SOCS B3GNTL1 146712 genome.wustl.edu 37 17 80914642 80914642 + Silent SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001009905.1 -1 validated p.R312 0.999 246 0% 251 31.5% 21 61.9% - - - NULL ENSG00000173213 0 genome.wustl.edu 37 18 47717 47717 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000308911 -1 known p.K336N 1.000 93 0% 120 11.7% 0 - benign(0.335) deleterious(0) deleterious(0.550) superfamily_Tub_FtsZ_C,HMMPfam_Tubulin_C USP14 9097 genome.wustl.edu 37 18 203173 203173 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005151.3 +1 reviewed p.N340H 1.000 145 0% 179 50.3% 12 58.3% probably_damaging(0.998) deleterious(0.05) deleterious(0.820) HMMPfam_UCH,superfamily_SSF54001 USP14 9097 genome.wustl.edu 37 18 204645 204645 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005151.3 +1 reviewed p.K373Q 1.000 228 0% 294 48% 13 46.1% possibly_damaging(0.839) deleterious(0.02) deleterious(0.704) HMMPfam_UCH,superfamily_SSF54001 CETN1 1068 genome.wustl.edu 37 18 580561 580561 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004066.1 +1 reviewed p.K51N 1.000 49 0% 89 47.2% 0 - probably_damaging(0.996) deleterious(0.01) deleterious(0.867) HMMSmart_SM00054,PatternScan_EF_HAND_1,HMMPfam_efhand,superfamily_EF-hand ENOSF1 55556 genome.wustl.edu 37 18 685927 685927 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_202758.2 -1 validated p.K266N 0.964 234 0% 332 38% 140 50% benign(0) tolerated(0.51) neutral(0.009) HMMPfam_MR_MLE,superfamily_SSF51604 ENOSF1 55556 genome.wustl.edu 37 18 691103 691103 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_202758.2 -1 validated p.I188R 1.000 149 0% 171 43.9% 42 40.4% benign(0.196) tolerated(0.07) neutral(0.338) superfamily_SSF51604 MYOM1 8736 genome.wustl.edu 37 18 3164279 3164279 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003803.3 -1 reviewed p.R500* 1.000 149 0% 184 48.9% 0 - - - - HMMSmart_SM00409,superfamily_Immunoglobulin MYOM1 8736 genome.wustl.edu 37 18 3187531 3187531 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003803.3 -1 reviewed p.E292D 1.000 180 0% 296 43.2% 2 50% benign(0.429) tolerated(0.22) neutral(0.182) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin EPB41L3 23136 genome.wustl.edu 37 18 5396315 5396315 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_012307.2 -1 provisional p.T953M 1.000 259 0% 380 42.6% 4 0% possibly_damaging(0.677) deleterious(0) deleterious(0.685) NULL EPB41L3 23136 genome.wustl.edu 37 18 5419806 5419806 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_012307.2 -1 provisional p.P470 0.139 143 0% 159 40.9% 10 0% - - - NULL PTPRM 5797 genome.wustl.edu 37 18 8113688 8113688 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001105244.1 +1 reviewed p.Y687 1.000 139 0% 126 42.1% 3 0% - - - HMMSmart_SM00060,superfamily_Fibronectin type III ANKRD12 23253 genome.wustl.edu 37 18 9255009 9255009 + Missense_Mutation SNP C C T rs187421957 by1000genomes TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015208.3 +1 validated p.R582W 0.996 76 0% 106 40.6% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Ankyrin repeat TXNDC2 84203 genome.wustl.edu 37 18 9887130 9887130 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001098529.1 +1 validated p.Q218 0.000 418 0% 522 43.1% 0 - - - - NULL PIEZO2 63895 genome.wustl.edu 37 18 10689698 10689698 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000503781 -1 known p.I328 0.997 90 0% 120 44.2% 0 - - - - NULL MPPE1 65258 genome.wustl.edu 37 18 11897251 11897251 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_023075.4 -1 validated p.E5K 0.000 198 0% 243 20.6% 7 42.8% benign(0.034) tolerated(0.63) neutral(0.005) NULL IMPA2 3613 genome.wustl.edu 37 18 12014301 12014301 + Missense_Mutation SNP G G A rs180896388 by1000genomes TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014214.1 +1 validated p.R140Q 1.000 100 0% 105 50.5% 73 61.6% benign(0.048) tolerated(0.76) neutral(0.004) HMMPfam_Inositol_P,superfamily_Carbohydrate phosphatase IMPA2 3613 genome.wustl.edu 37 18 12030427 12030427 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014214.1 +1 validated p.T279 0.643 87 0% 101 40.6% 360 37.2% - - - HMMPfam_Inositol_P,superfamily_Carbohydrate phosphatase SLMO1 10650 genome.wustl.edu 37 18 12421590 12421590 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001142405.1 +1 validated p.D85N 1.000 225 0% 288 40.3% 0 - probably_damaging(0.998) tolerated(0.16) deleterious(0.534) HMMPfam_PRELI SPIRE1 56907 genome.wustl.edu 37 18 12454422 12454422 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001128626.1 -1 validated p.R567C 1.000 444 0% 522 41.8% 3 66.6% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_FYVE/PHD zinc finger CEP192 55125 genome.wustl.edu 37 18 13095626 13095626 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032142.3 +1 validated p.E1531K 0.014 89 0% 147 42.2% 8 50% benign(0.002) tolerated(0.16) neutral(0.059) NULL MC5R 4161 genome.wustl.edu 37 18 13826688 13826688 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005913.1 +1 provisional p.E308D 1.000 121 0% 129 52.7% 0 - benign(0.093) tolerated(0.07) neutral(0.326) superfamily_Family A G protein-coupled receptor-like LOC646359 646359 genome.wustl.edu 37 18 14378220 14378220 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_929288.3 -1 model p.E181D 0.303 43 0% 74 48.6% 0 - - - - HMMPfam_TRF,superfamily_Telomeric repeat binding factor (TRF) dimerisation domain LOC100288291 100288291 genome.wustl.edu 37 18 14705656 14705656 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_002344133.1 +1 model p.K52E 0.689 17 0% 28 21.4% 0 - - - - NULL ANKRD30B 374860 genome.wustl.edu 37 18 14763822 14763822 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001145029.1 +1 validated p.L320M 0.001 173 0% 197 26.9% 0 - probably_damaging(0.962) deleterious(0.01) deleterious(0.810) NULL ANKRD30B 374860 genome.wustl.edu 37 18 14850245 14850245 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001145029.1 +1 validated p.R1024I 0.975 77 1.3% 99 16.2% 0 - probably_damaging(0.986) deleterious(0.04) deleterious(0.783) NULL ANKRD30B 374860 genome.wustl.edu 37 18 14851652 14851652 + Missense_Mutation SNP A A T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001145029.1 +1 validated p.I1118F 0.941 152 0% 170 38.8% 0 - probably_damaging(0.993) deleterious(0) deleterious(0.895) NULL ANKRD30B 374860 genome.wustl.edu 37 18 14852417 14852417 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001145029.1 +1 validated p.E1373K 1.000 18 0% 21 38.1% 0 - possibly_damaging(0.931) tolerated(0.07) deleterious(0.697) NULL GREB1L 80000 genome.wustl.edu 37 18 19024296 19024296 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001142966.1 +1 provisional p.L440S 1.000 319 0% 430 44.9% 0 - unknown(0) tolerated(0.09) - NULL ABHD3 171586 genome.wustl.edu 37 18 19263925 19263925 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_138340.4 -1 reviewed p.C171G 1.000 249 0% 280 50.7% 2 50% benign(0.001) tolerated(0.35) neutral(0.021) HMMPfam_Abhydrolase_1,superfamily_alpha/beta-Hydrolases MIR1-2 406905 genome.wustl.edu 37 18 19409028 19409028 + RNA SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000384961 -1 known NULL 1.000 211 0% 307 26.4% 0 - - - - - CTAGE1 64693 genome.wustl.edu 37 18 19995571 19995571 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_172241.2 -1 validated p.R735I 0.050 123 0% 179 42.5% 0 - unknown(0) deleterious(0) - NULL CTAGE1 64693 genome.wustl.edu 37 18 19996985 19996985 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_172241.2 -1 validated p.E264* 0.161 362 0% 454 40.5% 0 - - - - NULL CABLES1 91768 genome.wustl.edu 37 18 20833719 20833719 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001100619.2 +1 validated p.A527V 1.000 61 0% 92 41.3% 35 48.5% benign(0.221) tolerated(0.1) neutral(0.308) superfamily_Cyclin-like RIOK3 8780 genome.wustl.edu 37 18 21057155 21057155 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003831.3 +1 reviewed p.D423N 1.000 252 0% 287 46.7% 29 34.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00090,superfamily_Protein kinase-like (PK-like),HMMPfam_RIO1 NPC1 4864 genome.wustl.edu 37 18 21125008 21125008 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000271.4 -1 reviewed p.V621 0.082 148 0% 198 18.2% 33 9% - - - HMMPfam_Patched,superfamily_SSF82866 LAMA3 3909 genome.wustl.edu 37 18 21338420 21338420 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_198129.1 +1 reviewed p.G336 0.888 39 0% 50 44% 4 50% - - - HMMPfam_Laminin_EGF,HMMSmart_SM00180,PatternScan_EGF_LAM_1,superfamily_EGF/Laminin LAMA3 3909 genome.wustl.edu 37 18 21496564 21496564 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_198129.1 +1 reviewed p.R2610* 0.997 230 0% 282 45% 12 16.6% - - - superfamily_Concanavalin A-like lectins/glucanases CDH2 1000 genome.wustl.edu 37 18 25570266 25570266 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001792.3 -1 reviewed p.E465K 1.000 161 0% 176 46.6% 2 0% benign(0.001) tolerated(0.43) neutral(0.013) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like CDH2 1000 genome.wustl.edu 37 18 25583052 25583052 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001792.3 -1 reviewed p.S310Y 1.000 195 0% 290 47.9% 10 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like CDH2 1000 genome.wustl.edu 37 18 25585924 25585924 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001792.3 -1 reviewed p.Q246* 1.000 161 0% 211 47.9% 2 0% - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like DSC2 1824 genome.wustl.edu 37 18 28654758 28654758 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024422.3 -1 reviewed p.E593D 0.986 279 0% 394 44.7% 52 63.4% benign(0) tolerated(0.6) neutral(0.004) superfamily_Cadherin-like DSG1 1828 genome.wustl.edu 37 18 28913675 28913675 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001942.2 +1 reviewed p.E270K 0.989 185 0% 283 28.3% 0 - benign(0.05) tolerated(0.06) neutral(0.326) superfamily_Cadherin-like DSG4 147409 genome.wustl.edu 37 18 28986171 28986171 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001134453.1 +1 reviewed p.D590N 0.999 67 0% 113 38.9% 1 100% probably_damaging(1) deleterious(0.03) deleterious(0.865) superfamily_Cadherin DSG3 1830 genome.wustl.edu 37 18 29044255 29044255 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001944.2 +1 reviewed p.K394R 1.000 165 0% 203 36.9% 0 - benign(0.003) tolerated(0.51) neutral(0.009) superfamily_Cadherin MEP1B 4225 genome.wustl.edu 37 18 29787230 29787230 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005925.2 +1 validated p.F188C 1.000 72 0% 129 38% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) "HMMPfam_Astacin,HMMSmart_SM00235,superfamily_Metalloproteases (""zincins"") catalytic domain" MEP1B 4225 genome.wustl.edu 37 18 29797905 29797905 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005925.2 +1 validated p.R690* 0.000 216 0% 296 40.5% 0 - - - - NULL KLHL14 57565 genome.wustl.edu 37 18 30260153 30260153 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020805.1 -1 provisional p.I523L 1.000 245 0% 347 22.5% 16 31.2% possibly_damaging(0.77) tolerated(0.14) deleterious(0.535) HMMPfam_Kelch_1,HMMSmart_Kelch,superfamily_Gal_oxid_central ASXL3 80816 genome.wustl.edu 37 18 31319877 31319877 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_030632.1 +1 provisional p.T837A 0.949 118 0% 149 24.8% 0 - benign(0) deleterious(0.04) neutral(0.349) NULL NOL4 8715 genome.wustl.edu 37 18 31709848 31709848 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003787.3 -1 validated p.R134I 1.000 399 0% 466 41% 0 - probably_damaging(0.959) deleterious(0) deleterious(0.847) NULL DTNA 1837 genome.wustl.edu 37 18 32431827 32431827 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001390.4 +1 reviewed p.I462 1.000 118 0% 168 45.2% 0 - - - - NULL MAPRE2 10982 genome.wustl.edu 37 18 32681978 32681978 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014268.2 +1 reviewed p.K155N 1.000 83 0% 97 47.4% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_CH,superfamily_Calponin-homology domain CH-domain ZSCAN30 100101467 genome.wustl.edu 37 18 32833517 32833517 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001112734.2 -1 validated p.R461I 1.000 335 0% 379 41.2% 6 50% possibly_damaging(0.838) deleterious(0) deleterious(0.764) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZSCAN30 100101467 genome.wustl.edu 37 18 32833937 32833937 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001112734.2 -1 validated p.R321K 1.000 178 0% 219 41.6% 6 16.6% benign(0.16) tolerated(0.21) neutral(0.058) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF24 7572 genome.wustl.edu 37 18 32917559 32917559 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006965.2 -1 validated p.K248N 1.000 173 0% 225 44.4% 2 50% possibly_damaging(0.723) deleterious(0.01) deleterious(0.668) superfamily_SSF57667 GALNT1 2589 genome.wustl.edu 37 18 33271038 33271038 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020474.3 +1 reviewed p.R347 0.991 224 0% 298 45.6% 21 47.6% - - - superfamily_Nucleotide-diphospho-sugar transferases C18orf21 83608 genome.wustl.edu 37 18 33558935 33558935 + Missense_Mutation SNP T T A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_031446.3 +1 validated p.F210Y 1.000 194 0% 230 44.8% 1 100% probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL ELP2 55250 genome.wustl.edu 37 18 33721159 33721159 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018255.1 +1 provisional p.D195Y 0.998 294 0% 315 39.7% 13 53.8% benign(0.133) deleterious(0.03) neutral(0.376) superfamily_WD40 repeat-like MOCOS 55034 genome.wustl.edu 37 18 33840066 33840066 + Silent SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017947.2 +1 validated p.I779 0.165 395 0% 505 43.6% 4 0% - - - HMMPfam_MOSC,superfamily_PK beta-barrel domain-like CELF4 56853 genome.wustl.edu 37 18 34833888 34833888 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020180.3 -1 reviewed p.F449 1.000 44 0% 65 50.8% 0 - - - - HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD SYT4 6860 genome.wustl.edu 37 18 40854127 40854127 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020783.3 -1 validated p.K89N 1.000 457 0% 531 40.9% 0 - benign(0) tolerated(0.29) neutral(0.029) NULL SETBP1 26040 genome.wustl.edu 37 18 42531308 42531308 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015559.2 +1 validated p.K668T 1.000 12 0% 13 61.5% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL SETBP1 26040 genome.wustl.edu 37 18 42531950 42531950 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015559.2 +1 validated p.A882V 1.000 20 0% 23 60.9% 1 100% possibly_damaging(0.896) deleterious(0.03) deleterious(0.718) NULL PSTPIP2 9050 genome.wustl.edu 37 18 43585447 43585447 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024430.3 -1 validated p.K135N 1.000 319 0% 329 41.6% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL ATP5A1 498 genome.wustl.edu 37 18 43664517 43664517 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001001937.1 -1 reviewed p.F511L 1.000 130 0% 161 28% 471 28.4% probably_damaging(0.969) tolerated(1) neutral(0.411) HMMPfam_ATP-synt_ab_C,superfamily_C-terminal domain of alpha and beta subunits of F1 ATP synthase ATP5A1 498 genome.wustl.edu 37 18 43669676 43669676 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001001937.1 -1 reviewed p.R169H 1.000 104 0% 148 45.3% 804 47.2% probably_damaging(0.992) deleterious(0) deleterious(0.892) superfamily_P-loop containing nucleoside triphosphate hydrolases HAUS1 115106 genome.wustl.edu 37 18 43708294 43708294 + RNA SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NR_026978.1 +1 validated NULL 0.000 19 0% 17 52.9% 0 - - - - - RNF165 494470 genome.wustl.edu 37 18 44036036 44036036 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152470.2 +1 validated p.D306Y 1.000 192 0% 253 25.7% 0 - probably_damaging(0.996) deleterious(0.01) deleterious(0.867) HMMSmart_RING,HMMPfam_zf-C3HC4,superfamily_SSF57850 LOXHD1 125336 genome.wustl.edu 37 18 44089759 44089759 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_144612.6 -1 reviewed p.D1467N 1.000 148 0% 187 43.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PLAT,superfamily_Lipase_LipOase LOXHD1 125336 genome.wustl.edu 37 18 44102263 44102263 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_144612.6 -1 reviewed p.Y1351C 1.000 81 0% 123 40.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Lipase_LipOase LOXHD1 125336 genome.wustl.edu 37 18 44146307 44146307 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_144612.6 -1 reviewed p.P506T 1.000 54 0% 70 44.3% 0 - benign(0.003) tolerated(0.31) neutral(0.027) HMMPfam_PLAT,HMMSmart_LH2,superfamily_Lipase_LipOase LOXHD1 125336 genome.wustl.edu 37 18 44181282 44181282 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000441551 -1 known p.G325R 0.120 85 0% 132 36.4% 0 - - - - HMMPfam_PLAT,HMMSmart_SM00308,superfamily_Lipase/lipooxygenase domain (PLAT/LH2 domain) LOXHD1 125336 genome.wustl.edu 37 18 44184109 44184109 + Silent SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000441551 -1 known p.N262D 1.000 202 0% 285 14% 0 - - - - HMMPfam_PLAT,HMMSmart_SM00308,superfamily_Lipase/lipooxygenase domain (PLAT/LH2 domain) ST8SIA5 29906 genome.wustl.edu 37 18 44260370 44260370 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_013305.4 -1 reviewed p.D256N 1.000 28 0% 42 54.8% 2 0% possibly_damaging(0.919) tolerated(0.38) neutral(0.387) HMMPfam_Glyco_transf_29 TCEB3B 51224 genome.wustl.edu 37 18 44559393 44559393 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016427.2 -1 reviewed p.R748K 0.000 184 0% 208 46.6% 0 - benign(0) tolerated(0.56) neutral(0.006) NULL DYM 54808 genome.wustl.edu 37 18 46645263 46645263 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017653.3 -1 reviewed p.R533* 1.000 296 0% 382 43.2% 33 12.1% - - - HMMPfam_Dymeclin DYM 54808 genome.wustl.edu 37 18 46906113 46906113 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017653.3 -1 reviewed p.R70Q 1.000 322 0% 326 45.4% 2 0% probably_damaging(0.997) tolerated(0.58) deleterious(0.471) HMMPfam_Dymeclin RPL17 6139 genome.wustl.edu 37 18 47015853 47015853 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000985.3 -1 reviewed p.R128Q 0.987 122 0% 177 49.2% 494 46.3% possibly_damaging(0.749) deleterious(0) deleterious(0.720) HMMPfam_Ribosomal_L22,superfamily_Ribosomal protein L22,PatternScan_RIBOSOMAL_L22 CCDC11 220136 genome.wustl.edu 37 18 47777942 47777942 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_145020.3 -1 validated p.N229S 0.039 205 0% 316 44.3% 5 80% possibly_damaging(0.585) tolerated(0.13) neutral(0.454) NULL LOC100287130 100287130 genome.wustl.edu 37 18 47808950 47808950 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_002343599.1 +1 model p.S50 0.003 63 0% 68 17.6% 306 14% - - - NULL MAPK4 5596 genome.wustl.edu 37 18 48190559 48190559 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002747.3 +1 reviewed p.I77 0.897 55 0% 68 44.1% 0 - - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase SMAD4 4089 genome.wustl.edu 37 18 48604735 48604735 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005359.5 +1 reviewed p.K519N 0.999 91 0% 132 43.9% 33 72.7% benign(0.074) deleterious(0.01) neutral(0.411) HMMPfam_MH2,HMMSmart_SM00524,superfamily_SMAD/FHA domain DCC 1630 genome.wustl.edu 37 18 50589677 50589677 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005215.3 +1 reviewed p.P330T 1.000 279 0% 358 42.5% 0 - possibly_damaging(0.774) tolerated(0.09) deleterious(0.585) superfamily_Immunoglobulin DCC 1630 genome.wustl.edu 37 18 50832017 50832017 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005215.3 +1 reviewed p.R661* 1.000 92 0% 115 17.4% 0 - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III TXNL1 9352 genome.wustl.edu 37 18 54278314 54278314 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004786.2 -1 validated p.S250 1.000 233 0.4% 244 43% 84 52.3% - - - HMMPfam_DUF1000 TXNL1 9352 genome.wustl.edu 37 18 54281690 54281690 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004786.2 -1 validated p.R234C 1.000 235 0.4% 326 41.7% 73 45.2% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_DUF1000 TXNL1 9352 genome.wustl.edu 37 18 54291595 54291595 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004786.2 -1 validated p.G98E 1.000 455 0% 494 43.7% 46 50% probably_damaging(0.984) tolerated(0.17) deleterious(0.489) superfamily_Thiordxn-like_fd,HMMPfam_Thioredoxin ONECUT2 9480 genome.wustl.edu 37 18 55143765 55143765 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004852.2 +1 reviewed p.F442S 0.992 61 0% 93 45.2% 0 - benign(0.221) tolerated(0.4) neutral(0.038) HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like ATP8B1 5205 genome.wustl.edu 37 18 55322595 55322595 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005603.4 -1 reviewed p.S921L 1.000 105 0% 176 47.2% 182 37.9% probably_damaging(0.995) deleterious(0.02) deleterious(0.841) superfamily_SSF56784,superfamily_SSF81665 ATP8B1 5205 genome.wustl.edu 37 18 55362729 55362729 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005603.4 -1 reviewed p.I245T 1.000 454 0% 462 46.8% 5 40% benign(0.005) tolerated(0.59) neutral(0.004) superfamily_SSF81653,superfamily_SSF81665 LOC284288 284288 genome.wustl.edu 37 18 55505736 55505736 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_210365.1 +1 model p.S10L 1.000 37 0% 44 27.3% 0 - - - - HMMPfam_Ribosomal_L24e,HMMSmart_SM00746,superfamily_Glucocorticoid receptor-like (DNA-binding domain) ALPK2 115701 genome.wustl.edu 37 18 56246486 56246486 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_052947.3 -1 validated p.M508V 0.000 409 0% 519 10.8% 0 - benign(0) tolerated(1) - NULL ALPK2 115701 genome.wustl.edu 37 18 56247608 56247608 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_052947.3 -1 validated p.E134* 0.000 555 0% 678 42% 0 - - - - NULL ALPK2 115701 genome.wustl.edu 37 18 56247745 56247745 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_052947.3 -1 validated p.S88L 0.029 157 1.3% 185 36.8% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin CDH20 28316 genome.wustl.edu 37 18 59212314 59212314 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_031891.2 +1 reviewed p.F529V 1.000 155 0% 248 46.8% 0 - benign(0.041) deleterious(0.04) neutral(0.351) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PIGN 23556 genome.wustl.edu 37 18 59763132 59763132 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_012327.5 -1 reviewed p.L710S 0.313 124 0% 199 41.2% 30 46.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PigN SERPINB12 89777 genome.wustl.edu 37 18 61223532 61223532 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_080474.1 +1 provisional p.R47I 0.430 221 0% 265 40.4% 0 - probably_damaging(0.984) deleterious(0) deleterious(0.875) HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin SERPINB7 8710 genome.wustl.edu 37 18 61465873 61465873 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001040147.1 +1 validated p.S164R 0.682 211 0% 255 18.4% 4 0% probably_damaging(0.994) tolerated(0.08) deleterious(0.752) HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin SERPINB2 5055 genome.wustl.edu 37 18 61569779 61569779 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001143818.1 +1 validated p.D274N 0.289 259 0% 317 42.9% 1 0% possibly_damaging(0.879) deleterious(0) deleterious(0.787) HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin CDH7 1005 genome.wustl.edu 37 18 63430112 63430112 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004361.2 +1 reviewed p.L12M 0.993 321 0% 348 47.7% 0 - probably_damaging(0.991) tolerated(0.2) deleterious(0.493) NULL CDH19 28513 genome.wustl.edu 37 18 64172541 64172541 + Splice_Site SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_021153.2 -1 reviewed e11-2 1.000 37 0% 24 41.7% 0 - - - - - DSEL 92126 genome.wustl.edu 37 18 65178653 65178653 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032160.2 -1 validated p.E1075* 0.293 62 0% 80 36.2% 0 - - - - superfamily_P-loop containing nucleoside triphosphate hydrolases DSEL 92126 genome.wustl.edu 37 18 65181363 65181363 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032160.2 -1 validated p.E171D 1.000 64 0% 62 24.2% 0 - benign(0.028) tolerated(0.49) neutral(0.012) NULL TMX3 54495 genome.wustl.edu 37 18 66344237 66344237 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_019022.3 -1 validated p.S433I 0.000 341 0% 423 44% 4 50% benign(0.256) tolerated(0.07) neutral(0.346) NULL TMX3 54495 genome.wustl.edu 37 18 66369004 66369004 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_019022.3 -1 validated p.R97* 1.000 249 0% 284 38.7% 1 0% - - - superfamily_Thioredoxin-like,HMMPfam_Thioredoxin CCDC102B 79839 genome.wustl.edu 37 18 66678261 66678261 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001093729.1 +1 validated p.D452N 0.596 256 0% 311 46.9% 0 - possibly_damaging(0.68) deleterious(0) deleterious(0.687) NULL TIMM21 29090 genome.wustl.edu 37 18 71816059 71816059 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014177.2 +1 validated p.L6I 0.003 82 0% 102 57.8% 29 41.3% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL ZNF407 55628 genome.wustl.edu 37 18 72345678 72345678 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017757.2 +1 reviewed p.K901N 1.000 87 0% 131 27.5% 7 42.8% probably_damaging(0.999) tolerated(0.17) deleterious(0.549) HMMSmart_SM00451,HMMSmart_SM00355,superfamily_Glucocorticoid receptor-like (DNA-binding domain) ZNF407 55628 genome.wustl.edu 37 18 72346635 72346635 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017757.2 +1 reviewed p.S1220 0.002 53 0% 81 38.3% 1 0% - - - NULL TSHZ1 10194 genome.wustl.edu 37 18 72999405 72999405 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005786.4 +1 reviewed p.P636 0.050 72 1.4% 92 53.3% 30 40% - - - NULL TSHZ1 10194 genome.wustl.edu 37 18 73000080 73000080 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005786.4 +1 reviewed p.S861 1.000 39 0% 70 47.1% 77 48% - - - HMMPfam_Homeobox,HMMSmart_SM00389 SALL3 27164 genome.wustl.edu 37 18 76756894 76756894 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_171999.2 +1 validated p.H1159Y 1.000 10 0% 19 26.3% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers NFATC1 4772 genome.wustl.edu 37 18 77227454 77227454 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_172387.1 +1 reviewed p.S642Y 0.178 48 0% 80 51.2% 15 60% possibly_damaging(0.922) tolerated(0.59) neutral(0.376) HMMPfam_TIG,HMMSmart_SM00429,superfamily_E set domains KCNG2 26251 genome.wustl.edu 37 18 77659108 77659108 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_012283.1 +1 reviewed p.F231 0.978 25 0% 42 52.4% 2 100% - - - HMMPfam_Ion_trans,superfamily_SSF81324 PARD6G 84552 genome.wustl.edu 37 18 78005221 78005221 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032510.3 -1 validated p.S4I 1.000 25 0% 32 68.8% 5 40% benign(0.081) tolerated(0.06) neutral(0.329) NULL PPAP2C 8612 genome.wustl.edu 37 19 291319 291319 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003712.2 -1 reviewed p.V6 0.998 11 0% 13 46.2% 548 8% - - - superfamily_Acid phosphatase/Vanadium-dependent haloperoxidase SHC2 25759 genome.wustl.edu 37 19 436223 436223 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_012435.2 -1 validated p.E299K 1.000 17 0% 36 58.3% 130 45.3% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_PID,HMMSmart_PTB,superfamily_SSF50729 POLRMT 5442 genome.wustl.edu 37 19 619101 619101 + Missense_Mutation SNP T T A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005035.3 -1 reviewed p.T1055S 1.000 34 0% 36 44.4% 64 50% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_RNA_pol,superfamily_SSF56672 PALM 5064 genome.wustl.edu 37 19 746350 746350 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002579.2 +1 reviewed p.E234K 0.997 19 0% 42 40.5% 80 38.7% benign(0.392) deleterious(0.01) deleterious(0.531) HMMPfam_Paralemmin PTBP1 5725 genome.wustl.edu 37 19 804915 804915 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002819.4 +1 reviewed p.P231 0.634 46 0% 88 39.8% 796 46.1% - - - HMMPfam_RRM_1,HMMSmart_RRM,superfamily_SSF54928 LPPR3 79948 genome.wustl.edu 37 19 815061 815061 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024888.1 -1 provisional p.C142R 1.000 75 0% 110 19.1% 26 19.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PAP2,HMMSmart_acidPPc,superfamily_AcPase_VanPerase MED16 10025 genome.wustl.edu 37 19 885852 885852 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005481.2 -1 validated p.R266H 1.000 63 0% 84 46.4% 376 45.4% unknown(0) tolerated(0.09) - superfamily_WD40 repeat-like GRIN3B 116444 genome.wustl.edu 37 19 1008189 1008189 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_138690.1 +1 provisional p.E789K 1.000 23 0% 45 53.3% 3 66.6% probably_damaging(0.998) tolerated(0.26) deleterious(0.508) HMMPfam_Lig_chan,HMMSmart_PBPe,superfamily_SSF53850 ABCA7 10347 genome.wustl.edu 37 19 1043738 1043738 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_019112.3 +1 reviewed p.F315 0.874 80 1.3% 99 47.5% 3 33.3% - - - NULL ABCA7 10347 genome.wustl.edu 37 19 1059028 1059028 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_019112.3 +1 reviewed p.R1803C 0.860 120 0% 134 42.5% 16 50% probably_damaging(0.996) deleterious(0.03) deleterious(0.826) superfamily_P-loop containing nucleoside triphosphate hydrolases SBNO2 22904 genome.wustl.edu 37 19 1122524 1122524 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014963.2 -1 validated p.A316 0.923 14 0.000 6 0.667 148 46.6% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases CIRBP 1153 genome.wustl.edu 37 19 1272472 1272472 + RNA SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NR_023312.1 +1 validated NULL 1.000 198 0% 316 42.4% 455 52.3% - - - - AP3D1 8943 genome.wustl.edu 37 19 2123376 2123376 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003938.5 -1 validated p.I312 0.994 140 0% 206 44.2% 65 50.7% - - - HMMPfam_Adaptin_N,superfamily_ARM repeat SF3A2 8175 genome.wustl.edu 37 19 2244554 2244554 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_007165.4 +1 reviewed p.F46L 0.966 134 0% 189 39.7% 147 41.4% benign(0.213) tolerated(0.21) neutral(0.065) NULL ZNF57 126295 genome.wustl.edu 37 19 2916106 2916106 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_173480.2 +1 validated p.S54* 0.000 489 0% 614 45.8% 1 100% - - - HMMSmart_SM00349 ZNF77 58492 genome.wustl.edu 37 19 2933631 2933631 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_021217.2 -1 validated p.G498 0.747 204 0% 283 38.2% 13 46.1% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 PIP5K1C 23396 genome.wustl.edu 37 19 3664858 3664858 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_012398.1 -1 reviewed p.R61* 1.000 30 0% 47 36.2% 80 40% - - - NULL EEF2 1938 genome.wustl.edu 37 19 3979984 3979984 + Missense_Mutation SNP T T A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001961.3 -1 reviewed p.D476V 1.000 26 0% 48 47.9% 4157 42.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_GTP_EFTU_D2,superfamily_Translation proteins ANKRD24 170961 genome.wustl.edu 37 19 4216752 4216752 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_133475.1 +1 provisional p.A532V 0.000 43 0% 52 46.2% 3 33.3% benign(0) tolerated(1) - NULL ANKRD24 170961 genome.wustl.edu 37 19 4216949 4216949 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_133475.1 +1 provisional p.E598* 0.001 68 0% 123 40.7% 3 0% - - - NULL FSD1 79187 genome.wustl.edu 37 19 4318430 4318430 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024333.2 +1 reviewed p.K296T 1.000 76 0% 105 41% 1 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL HDGFRP2 84717 genome.wustl.edu 37 19 4475527 4475527 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001001520.1 +1 reviewed p.E79K 1.000 103 0% 106 35.8% 58 32.7% probably_damaging(0.971) deleterious(0) deleterious(0.857) superfamily_Tudor/PWWP/MBT TICAM1 148022 genome.wustl.edu 37 19 4816574 4816574 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_182919.2 -1 validated p.R606* 0.000 24 0% 27 63% 8 12.5% - - - NULL PTPRS 5802 genome.wustl.edu 37 19 5256125 5256125 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002850.3 -1 reviewed p.R238* 1.000 247 0% 310 38.1% 0 - - - - NULL SAFB2 9667 genome.wustl.edu 37 19 5604608 5604608 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014649.2 -1 validated p.E515D 0.976 247 0% 258 26.7% 8 25% benign(0.034) tolerated(0.42) neutral(0.016) superfamily_SSF54928 LONP1 9361 genome.wustl.edu 37 19 5714271 5714271 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004793.2 -1 reviewed p.K147N 1.000 288 0.3% 314 41.7% 15 20% benign(0.11) tolerated(0.08) neutral(0.308) HMMPfam_LON,HMMSmart_LON FUT3 2525 genome.wustl.edu 37 19 5844738 5844738 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000149.3 -1 reviewed p.R38Q 0.000 25 0% 31 41.9% 5 20% benign(0.014) tolerated(0.42) neutral(0.015) HMMPfam_Glyco_transf_10 RFX2 5990 genome.wustl.edu 37 19 5995648 5995648 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000635.3 -1 reviewed p.D674N 1.000 63 0% 81 42% 7 14.2% benign(0.037) tolerated(0.3) neutral(0.030) NULL ACSBG2 81616 genome.wustl.edu 37 19 6147577 6147577 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_030924.3 +1 validated p.R63Q 0.001 149 0% 210 13.3% 0 - possibly_damaging(0.687) tolerated(0.1) deleterious(0.532) superfamily_SSF56801 MLLT1 4298 genome.wustl.edu 37 19 6213122 6213122 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005934.3 -1 validated p.F537 0.986 110 0% 180 51.7% 150 37.3% - - - NULL ACER1 125981 genome.wustl.edu 37 19 6309747 6309747 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_133492.2 -1 validated p.A150V 0.846 111 0% 145 46.9% 0 - benign(0.327) deleterious(0.01) deleterious(0.508) HMMPfam_aPHC GTF2F1 2962 genome.wustl.edu 37 19 6391971 6391971 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002096.2 -1 validated p.K25T 0.879 476 0% 579 43.5% 47 46.8% possibly_damaging(0.717) deleterious(0.01) deleterious(0.665) HMMPfam_TFIIF_alpha,superfamily_Rap30/74 interaction domains KHSRP 8570 genome.wustl.edu 37 19 6422415 6422415 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003685.2 -1 validated p.T94 0.011 209 0% 255 43.1% 54 44.4% - - - NULL SLC25A41 284427 genome.wustl.edu 37 19 6433623 6433623 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_173637.3 -1 validated p.K28E 0.001 109 0% 113 39.8% 0 - benign(0) deleterious(0) neutral(0.445) NULL TNFSF14 8740 genome.wustl.edu 37 19 6664984 6664984 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003807.3 -1 reviewed p.R226* 0.010 72 0% 124 38.7% 0 - - - - HMMPfam_TNF,HMMSmart_SM00207,superfamily_TNF-like SH2D3A 10045 genome.wustl.edu 37 19 6760665 6760665 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005490.2 -1 validated p.R135W 0.000 73 0% 73 53.4% 13 7.6% probably_damaging(0.982) deleterious(0.04) deleterious(0.775) superfamily_SH2 domain VAV1 7409 genome.wustl.edu 37 19 6820791 6820791 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005428.2 +1 reviewed p.E95K 1.000 158 0.6% 207 21.3% 4 0% benign(0.334) deleterious(0.01) deleterious(0.511) HMMPfam_CH,HMMSmart_CH,superfamily_Calponin-homology EMR1 2015 genome.wustl.edu 37 19 6924789 6924789 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001974.3 +1 reviewed p.R631Q 0.022 199 0% 222 45.5% 1 0% benign(0.149) tolerated(1) neutral(0.013) HMMPfam_7tm_2,superfamily_Family A G protein-coupled receptor-like ZNF557 79230 genome.wustl.edu 37 19 7083076 7083076 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001044387.1 +1 validated p.E205G 1.000 192 0.5% 222 44.6% 4 50% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF57667 PNPLA6 10908 genome.wustl.edu 37 19 7620239 7620239 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006702.4 +1 reviewed p.G936 0.978 14 0% 20 50% 32 28.1% - - - PatternScan_UPF0028,HMMPfam_Patatin,superfamily_Acyl_Trfase/lysoPlipase XAB2 56949 genome.wustl.edu 37 19 7691052 7691052 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020196.2 -1 validated p.F209 0.994 31 0% 42 45.2% 76 31.5% - - - superfamily_SSF48452 XAB2 56949 genome.wustl.edu 37 19 7693137 7693137 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020196.2 -1 validated p.F33L 1.000 110 0% 107 46.7% 30 43.3% benign(0.008) tolerated(0.58) neutral(0.005) NULL CD209 30835 genome.wustl.edu 37 19 7809048 7809048 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_021155.3 -1 reviewed p.D320Y 0.060 344 0% 392 37.2% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like EVI5L 115704 genome.wustl.edu 37 19 7912759 7912759 + Silent SNP C C T rs193137808 by1000genomes TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_145245.3 +1 validated p.I93 0.998 38 0% 41 39% 21 42.8% - - - superfamily_RabGAP_TBC ELAVL1 1994 genome.wustl.edu 37 19 8046018 8046018 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001419.2 -1 reviewed p.E75D 1.000 187 0% 232 44.8% 328 45.1% benign(0.008) tolerated(0.1) neutral(0.286) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD FBN3 84467 genome.wustl.edu 37 19 8136985 8136985 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032447.3 -1 reviewed p.N2679D 1.000 60 0% 77 32.5% 5 60% benign(0.103) deleterious(0.03) neutral(0.372) NULL FBN3 84467 genome.wustl.edu 37 19 8171112 8171112 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032447.3 -1 reviewed p.D1565N 1.000 60 0% 90 34.4% 0 - benign(0.251) tolerated(0.24) neutral(0.063) HMMSmart_SM00179,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin PRAM1 84106 genome.wustl.edu 37 19 8563567 8563567 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032152.3 -1 reviewed p.F375 0.000 11 0% 20 35% 0 - - - - NULL ZNF558 148156 genome.wustl.edu 37 19 8922651 8922651 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_144693.1 -1 provisional p.R172I 1.000 86 0% 125 32% 4 50% possibly_damaging(0.879) deleterious(0) deleterious(0.787) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers MUC16 94025 genome.wustl.edu 37 19 9058260 9058260 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024690.2 -1 validated p.S9729Y 0.003 190 0% 241 39.4% 25 48% unknown(0) - - NULL MUC16 94025 genome.wustl.edu 37 19 9058858 9058858 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024690.2 -1 validated p.E9530* 0.000 290 0% 413 47% 14 42.8% - - - NULL MUC16 94025 genome.wustl.edu 37 19 9067616 9067616 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024690.2 -1 validated p.V6610 0.000 250 0% 279 15.4% 22 22.7% - - - NULL MUC16 94025 genome.wustl.edu 37 19 9075063 9075063 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024690.2 -1 validated p.R4128I 0.001 208 0% 261 49.4% 14 78.5% unknown(0) - - NULL MUC16 94025 genome.wustl.edu 37 19 9084554 9084554 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024690.2 -1 validated p.E2421* 0.193 248 0% 306 14.4% 4 0% - - - NULL MUC16 94025 genome.wustl.edu 37 19 9088390 9088390 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024690.2 -1 validated p.D1142G 0.003 281 0% 402 42.8% 12 33.3% unknown(0) - - NULL LOC100132973 100132973 genome.wustl.edu 37 19 9293044 9293044 + Nonstop_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_001726567.1 -1 model p.*116E 1.000 27 0% 56 48.2% 0 - - - - NULL OR7D4 125958 genome.wustl.edu 37 19 9324794 9324794 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001005191.1 -1 provisional p.T240 1.000 65 0% 111 51.4% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR7D4 125958 genome.wustl.edu 37 19 9325035 9325035 + Missense_Mutation SNP A A T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001005191.1 -1 provisional p.I160N 0.001 153 0% 210 49% 0 - benign(0.172) tolerated(0.14) neutral(0.265) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ZNF699 374879 genome.wustl.edu 37 19 9406545 9406545 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_198535.1 -1 provisional p.F512C 0.821 287 0% 356 35.4% 3 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF699 374879 genome.wustl.edu 37 19 9407533 9407533 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_198535.1 -1 provisional p.L183I 0.000 96 0% 93 36.6% 0 - possibly_damaging(0.944) tolerated(0.07) deleterious(0.708) NULL ZNF559 84527 genome.wustl.edu 37 19 9452785 9452785 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032497.1 +1 provisional p.E220K 0.055 143 0% 158 48.7% 4 50% benign(0) tolerated(1) - NULL ZNF266 10781 genome.wustl.edu 37 19 9524126 9524126 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006631.2 -1 validated p.Y492C 0.000 118 0% 97 46.4% 18 38.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF266 10781 genome.wustl.edu 37 19 9524486 9524486 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006631.2 -1 validated p.R372Q 0.001 168 0% 208 40.4% 15 66.6% probably_damaging(0.96) deleterious(0.01) deleterious(0.808) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF560 147741 genome.wustl.edu 37 19 9581127 9581127 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152476.2 -1 validated p.A130D 0.093 228 0% 301 43.5% 0 - benign(0.004) tolerated(0.21) neutral(0.044) HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box LOC646048 646048 genome.wustl.edu 37 19 9628951 9628951 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_002343637.1 +1 model p.G231 0.997 12 0% 11 36.4% 0 - - - - HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain LOC646048 646048 genome.wustl.edu 37 19 9629000 9629000 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_002343637.1 +1 model p.Q248K 1.000 15 0% 19 36.8% 0 - - - - HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain ZNF426 79088 genome.wustl.edu 37 19 9639319 9639319 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024106.1 -1 provisional p.R468* 0.000 192 0% 245 45.7% 4 25% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF426 79088 genome.wustl.edu 37 19 9639402 9639402 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024106.1 -1 provisional p.R440Q 0.917 186 0% 212 46.7% 3 33.3% probably_damaging(1) tolerated(0.11) deleterious(0.772) HMMSmart_SM00614,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF426 79088 genome.wustl.edu 37 19 9639570 9639570 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024106.1 -1 provisional p.R384I 0.040 127 0% 162 16% 8 25% probably_damaging(0.979) deleterious(0) deleterious(0.867) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF121 7675 genome.wustl.edu 37 19 9676973 9676973 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001008727.2 -1 validated p.K272 0.000 164 0.6% 193 40.9% 3 66.6% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF562 54811 genome.wustl.edu 37 19 9763731 9763731 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001130031.1 -1 validated p.R392K 0.020 258 0% 308 46.8% 14 42.8% possibly_damaging(0.77) tolerated(0.11) deleterious(0.557) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers COL5A3 50509 genome.wustl.edu 37 19 10084278 10084278 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015719.3 -1 reviewed p.D1212Y 0.999 72 0% 87 44.8% 3 0% unknown(0) deleterious(0.03) - HMMPfam_Collagen COL5A3 50509 genome.wustl.edu 37 19 10089572 10089572 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015719.3 -1 reviewed p.D987N 0.406 23 0% 17 64.7% 0 - probably_damaging(0.965) tolerated(0.51) neutral(0.416) HMMPfam_Collagen COL5A3 50509 genome.wustl.edu 37 19 10089623 10089623 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015719.3 -1 reviewed p.E970* 1.000 30 0% 35 37.1% 0 - - - - HMMPfam_Collagen COL5A3 50509 genome.wustl.edu 37 19 10106796 10106796 + Splice_Site SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015719.3 -1 reviewed e15-1 1.000 258 0% 303 29% 0 - - - - - PPAN-P2RY11 692312 genome.wustl.edu 37 19 10220911 10220911 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001040664.1 +1 validated p.R271W 1.000 14 0% 26 38.5% 101 47.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Brix DNMT1 1786 genome.wustl.edu 37 19 10265055 10265055 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001130823.1 -1 reviewed p.D645N 1.000 277 0% 431 46.6% 58 34.4% probably_damaging(0.998) deleterious(0.02) deleterious(0.857) NULL DNMT1 1786 genome.wustl.edu 37 19 10291528 10291528 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001130823.1 -1 reviewed p.E51K 1.000 414 0% 531 18.5% 3 33.3% probably_damaging(0.999) deleterious(0.04) deleterious(0.839) HMMPfam_DMAP_binding CDC37 11140 genome.wustl.edu 37 19 10506144 10506144 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_007065.3 -1 reviewed p.V152M 1.000 477 0% 653 44.9% 731 41% probably_damaging(0.994) tolerated(0.08) deleterious(0.752) HMMPfam_CDC37_M,superfamily_Hsp90 co-chaperone CDC37 KRI1 65095 genome.wustl.edu 37 19 10670507 10670507 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_023008.3 -1 validated p.F308 0.921 94 0% 168 36.9% 26 42.3% - - - NULL DNM2 1785 genome.wustl.edu 37 19 10930742 10930742 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001005360.1 +1 reviewed p.F586 0.998 110 0% 146 20.5% 397 20.4% - - - HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like LOC100287659 100287659 genome.wustl.edu 37 19 11145796 11145796 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_002343639.1 -1 model p.L221F 1.000 25 0% 26 46.2% 437 47.5% - - - NULL DOCK6 57572 genome.wustl.edu 37 19 11328011 11328011 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020812.2 -1 validated p.E1203K 0.978 65 0% 82 52.4% 51 31.3% benign(0.003) tolerated(0.33) neutral(0.024) NULL TMEM205 374882 genome.wustl.edu 37 19 11456064 11456064 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001145416.1 -1 validated p.R43Q 0.739 62 0% 70 44.3% 844 46.3% probably_damaging(0.994) deleterious(0.01) deleterious(0.858) NULL SWSAP1 126074 genome.wustl.edu 37 19 11486190 11486190 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_175871.3 +1 validated p.K63T 1.000 108 0% 100 34% 10 40% probably_damaging(0.958) deleterious(0.04) deleterious(0.750) superfamily_SSF52540 ZNF627 199692 genome.wustl.edu 37 19 11728448 11728448 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_145295.3 +1 validated p.S377L 0.000 112 0% 123 36.6% 1 100% possibly_damaging(0.61) tolerated(0.07) deleterious(0.530) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF823 55552 genome.wustl.edu 37 19 11833307 11833307 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001080493.2 -1 validated p.R348* 0.000 308 0% 355 38.9% 12 41.6% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF823 55552 genome.wustl.edu 37 19 11833894 11833894 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001080493.2 -1 validated p.Q152R 0.006 479 0% 625 45.1% 2 100% benign(0.002) tolerated(0.81) neutral(0.001) superfamily_SSF57667 ZNF440 126070 genome.wustl.edu 37 19 11943415 11943415 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152357.2 +1 validated p.R475I 0.002 179 0% 202 45.5% 3 66.6% benign(0.024) tolerated(0.49) neutral(0.011) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF69 7620 genome.wustl.edu 37 19 12016843 12016843 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000429654 +1 known p.R544I 0.395 101 0% 141 44% 6 66.6% benign(0.061) tolerated(0.37) neutral(0.023) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF700 90592 genome.wustl.edu 37 19 12059798 12059798 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_144566.1 +1 provisional p.S320Y 0.019 141 0% 215 46.5% 3 100% benign(0) tolerated(1) - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF700 90592 genome.wustl.edu 37 19 12060661 12060661 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_144566.1 +1 provisional p.R608* 0.002 139 0% 205 50.2% 17 29.4% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF763 284390 genome.wustl.edu 37 19 12087920 12087920 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001012753.1 +1 validated p.S27L 0.000 462 0.2% 536 42.2% 0 - benign(0.144) deleterious(0) neutral(0.457) HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box ZNF763 284390 genome.wustl.edu 37 19 12089301 12089301 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001012753.1 +1 validated p.R191* 0.000 235 0% 336 42.3% 6 0% - - - HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF433 163059 genome.wustl.edu 37 19 12126777 12126777 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001080411.1 -1 provisional p.R302I 0.654 183 0% 192 44.8% 3 0% probably_damaging(0.998) tolerated(0.14) deleterious(0.724) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF878 729747 genome.wustl.edu 37 19 12155812 12155812 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001080404.1 -1 inferred p.R182I 0.779 272 0% 320 42.8% 0 - probably_damaging(0.992) tolerated(0.13) deleterious(0.700) superfamily_C2H2 and C2HC zinc fingers ZNF844 284391 genome.wustl.edu 37 19 12184898 12184898 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001136501.1 +1 provisional p.S19Y 0.093 300 0% 353 43.9% 2 50% benign(0.255) deleterious(0) deleterious(0.471) HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box ZNF844 284391 genome.wustl.edu 37 19 12187409 12187409 + Missense_Mutation SNP G G A rs185145992 by1000genomes TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001136501.1 +1 provisional p.D492N 0.000 220 0% 258 17.4% 6 16.6% possibly_damaging(0.86) tolerated(0.5) neutral(0.343) NULL ENSG00000188474 0 genome.wustl.edu 37 19 12223747 12223747 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000339302 +1 known p.R462Q 0.000 43 0% 45 13.3% 5 20% benign(0.26) tolerated(0.69) neutral(0.029) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF625 90589 genome.wustl.edu 37 19 12256284 12256284 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_145233.2 -1 provisional p.S250L 0.002 185 0% 252 42.5% 9 66.6% possibly_damaging(0.731) deleterious(0.01) deleterious(0.673) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF136 7695 genome.wustl.edu 37 19 12297659 12297659 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003437.2 +1 validated p.R156* 0.746 151 0% 220 40% 11 63.6% - - - HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF136 7695 genome.wustl.edu 37 19 12298632 12298632 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003437.2 +1 validated p.R480Q 0.006 188 0% 224 40.2% 10 70% benign(0.017) tolerated(0.53) neutral(0.008) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF442 79973 genome.wustl.edu 37 19 12460708 12460708 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_030824.2 -1 validated p.R564I 0.001 212 0% 309 24.6% 0 - benign(0.009) deleterious(0.04) neutral(0.349) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF490 57474 genome.wustl.edu 37 19 12691328 12691328 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020714.2 -1 validated p.E521K 0.001 123 0% 148 37.8% 2 0% benign(0.202) tolerated(0.49) neutral(0.030) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 WDR83 84292 genome.wustl.edu 37 19 12780838 12780838 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001099737.2 +1 reviewed p.L51 1.000 42 0% 39 23.1% 51 21.5% - - - HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 DHPS 1725 genome.wustl.edu 37 19 12790661 12790661 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001930.2 -1 reviewed p.E150K 1.000 110 0% 145 21.4% 174 24.1% benign(0) tolerated(0.08) neutral(0.300) HMMPfam_DS,superfamily_DHS-like NAD/FAD-binding domain DHPS 1725 genome.wustl.edu 37 19 12791091 12791091 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001930.2 -1 reviewed p.D86N 0.921 255 0% 300 52.7% 237 50.2% benign(0) tolerated(0.12) neutral(0.261) HMMPfam_DS,superfamily_DHS-like NAD/FAD-binding domain TNPO2 30000 genome.wustl.edu 37 19 12826108 12826108 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001136196.1 -1 validated p.F199L 1.000 51 2% 66 12.1% 54 3.7% benign(0.331) deleterious(0.04) neutral(0.453) superfamily_ARM repeat ASNA1 439 genome.wustl.edu 37 19 12849405 12849405 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004317.2 +1 validated p.D81G 1.000 182 0% 243 42% 219 39.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ArsA_ATPase,superfamily_P-loop containing nucleoside triphosphate hydrolases MAST1 22983 genome.wustl.edu 37 19 12958720 12958720 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014975.2 +1 validated p.S208N 1.000 31 0% 39 59% 0 - benign(0) tolerated(0.46) neutral(0.012) HMMPfam_DUF1908 MAST1 22983 genome.wustl.edu 37 19 12963197 12963197 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014975.2 +1 validated p.D355 0.756 59 0% 54 44.4% 0 - - - - superfamily_Kinase_like GCDH 2639 genome.wustl.edu 37 19 13002302 13002302 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000159.2 +1 reviewed p.E31D 0.291 128 0% 171 30.4% 18 38.8% benign(0) tolerated(0.57) neutral(0.006) NULL CALR 811 genome.wustl.edu 37 19 13050431 13050431 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004343.3 +1 reviewed p.Y128C 1.000 142 0% 237 13.1% 5039 15.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Calreticulin,superfamily_Concanavalin A-like lectins/glucanases NFIX 4784 genome.wustl.edu 37 19 13184742 13184742 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002501.2 +1 validated p.G240 0.998 214 0% 273 20.1% 44 9% unknown(0) deleterious(0.02) - HMMPfam_CTF_NFI CACNA1A 773 genome.wustl.edu 37 19 13370440 13370440 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001127222.1 -1 reviewed p.Y1442 0.989 128 0% 184 46.2% 1 0% - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels CACNA1A 773 genome.wustl.edu 37 19 13470595 13470595 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001127222.1 -1 reviewed p.S268Y 1.000 108 0% 134 41% 0 - possibly_damaging(0.951) tolerated(0.09) deleterious(0.691) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels CACNA1A 773 genome.wustl.edu 37 19 13482541 13482541 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001127222.1 -1 reviewed p.R198* 0.972 41 0% 43 18.6% 0 - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels PRKACA 5566 genome.wustl.edu 37 19 14208251 14208251 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002730.3 -1 reviewed p.I229 1.000 81 0% 69 15.9% 39 17.9% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase CD97 976 genome.wustl.edu 37 19 14516666 14516666 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_078481.2 +1 reviewed p.R579H 1.000 36 0% 45 44.4% 125 21.6% probably_damaging(1) tolerated(0.07) deleterious(0.819) HMMPfam_7tm_2,superfamily_Family A G protein-coupled receptor-like DDX39A 10212 genome.wustl.edu 37 19 14523405 14523405 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005804.2 -1 reviewed p.F98 0.989 27 0% 19 26.3% 174 37.9% - - - HMMPfam_DEAD,HMMSmart_DEXDc,superfamily_SSF52540 ZNF333 84449 genome.wustl.edu 37 19 14827826 14827826 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032433.2 +1 validated p.N250H 0.000 119 0% 200 43% 3 66.6% benign(0.063) tolerated(0.15) neutral(0.245) HMMSmart_KRAB,superfamily_Krueppel-associated_box OR7A17 26333 genome.wustl.edu 37 19 14991408 14991408 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_030901.1 -1 provisional p.T254A 0.003 192 0% 260 46.9% 0 - benign(0.03) tolerated(0.07) neutral(0.321) HMMPfam_7tm_1,superfamily_SSF81321 OR7C2 26658 genome.wustl.edu 37 19 15052819 15052819 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_012377.1 +1 provisional p.E173D 0.000 408 0% 522 47.7% 0 - benign(0.005) tolerated(0.11) neutral(0.272) HMMPfam_7tm_1,superfamily_SSF81321 AKAP8 10270 genome.wustl.edu 37 19 15484026 15484026 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005858.2 -1 reviewed p.F166S 0.983 15 0% 45 46.7% 7 42.8% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL WIZ 58525 genome.wustl.edu 37 19 15538292 15538292 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_021241.2 -1 validated p.F194L 1.000 12 0% 10 40% 43 39.5% probably_damaging(0.959) tolerated(0.18) neutral(0.459) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2 WIZ 58525 genome.wustl.edu 37 19 15547730 15547730 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_021241.2 -1 validated p.R139Q 0.190 54 0% 64 43.8% 0 - benign(0.263) tolerated(0.06) neutral(0.350) NULL PGLYRP2 114770 genome.wustl.edu 37 19 15580282 15580282 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000292609 -1 known p.F601C 0.000 128 0% 167 40.7% 0 - benign(0.362) - - NULL LOC388514 388514 genome.wustl.edu 37 19 15871154 15871154 + RNA SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XR_017598.3 -1 model NULL 0.025 17 0% 30 33.3% 0 - - - - - CYP4F11 57834 genome.wustl.edu 37 19 16032912 16032912 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001128932.1 -1 reviewed p.Y350 1.000 285 0% 305 38% 10 30% - - - HMMPfam_p450,superfamily_Cytochrome P450 HSH2D 84941 genome.wustl.edu 37 19 16268028 16268028 + Silent SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000253680 +1 known p.P161 0.000 122 0% 102 40.2% 3 33.3% - - - NULL EPS15L1 58513 genome.wustl.edu 37 19 16504771 16504771 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_021235.1 -1 provisional p.T653A 0.009 226 0% 292 40.8% 13 30.7% benign(0) tolerated(0.92) - NULL EPS15L1 58513 genome.wustl.edu 37 19 16532242 16532242 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_021235.1 -1 provisional p.D280Y 1.000 155 0% 181 43.6% 49 32.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_EH,HMMSmart_EFh,superfamily_SSF47473 CALR3 125972 genome.wustl.edu 37 19 16606597 16606597 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_145046.3 -1 validated p.S53L 0.999 242 0% 286 48.3% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_Calreticulin,superfamily_ConA_like_lec_gl SLC35E1 79939 genome.wustl.edu 37 19 16666033 16666033 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024881.4 -1 validated p.R311H 1.000 101 0% 139 10.1% 88 12.5% possibly_damaging(0.789) tolerated(0.08) deleterious(0.596) HMMPfam_TPT,superfamily_Multidrug resistance efflux transporter EmrE MED26 9441 genome.wustl.edu 37 19 16688149 16688149 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004831.3 -1 validated p.K164N 0.993 5 0.000 13 0.308 7 57.1% probably_damaging(0.991) tolerated(0.06) deleterious(0.766) NULL NWD1 284434 genome.wustl.edu 37 19 16860198 16860198 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001007525.2 +1 validated p.D114N 0.995 29 0% 47 48.9% 5 100% possibly_damaging(0.896) tolerated(0.18) neutral(0.409) NULL NWD1 284434 genome.wustl.edu 37 19 16910892 16910892 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001007525.2 +1 validated p.A1084T 0.148 58 0% 74 43.2% 1 100% benign(0.003) deleterious(0.01) neutral(0.406) superfamily_WD40 repeat-like CPAMD8 27151 genome.wustl.edu 37 19 17014557 17014557 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000443236 -1 known p.P1512H 0.993 228 0% 284 40.5% 29 62% - - - NULL ANKLE1 126549 genome.wustl.edu 37 19 17394236 17394236 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152363.4 +1 validated p.F221 0.002 31 0% 42 57.1% 0 - - - - NULL FAM129C 199786 genome.wustl.edu 37 19 17657509 17657509 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_173544.4 +1 validated p.F554 0.000 48 0% 47 40.4% 0 - - - - NULL UNC13A 23025 genome.wustl.edu 37 19 17738359 17738359 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001080421.2 -1 validated p.L1381 1.000 41 0% 42 16.7% 0 - - - - HMMPfam_DUF1041 MAP1S 55201 genome.wustl.edu 37 19 17836865 17836865 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018174.4 +1 validated p.F224 0.996 23 0% 32 43.8% 15 60% - - - NULL MAP1S 55201 genome.wustl.edu 37 19 17838758 17838758 + Silent SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018174.4 +1 validated p.Q855 0.000 10 0% 14 28.6% 60 26.6% - - - NULL JAK3 3718 genome.wustl.edu 37 19 17946747 17946747 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000215.3 -1 reviewed p.A634T 1.000 61 0% 88 40.9% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) RPL18A 6142 genome.wustl.edu 37 19 17973794 17973794 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000980.2 +1 reviewed p.I132 0.941 35 0% 29 37.9% 816 44.7% - - - HMMPfam_Ribosomal_L18ae IL12RB1 3594 genome.wustl.edu 37 19 18188466 18188466 + Splice_Site SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005535.1 -1 reviewed e5-1 0.950 57 0% 85 40% 1 0% - - - - MAST3 23031 genome.wustl.edu 37 19 18255824 18255824 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015016.1 +1 validated p.G913S 0.192 35 0% 57 28.1% 6 50% benign(0.001) tolerated(0.46) neutral(0.012) NULL MPV17L2 84769 genome.wustl.edu 37 19 18305800 18305800 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000445735 +1 known p.R67C 1.000 81 0% 119 46.2% 93 38.7% - - - NULL KIAA1683 80726 genome.wustl.edu 37 19 18377003 18377003 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001145304.1 -1 validated p.A449 0.000 188 0% 246 47.2% 1 0% - - - NULL ISYNA1 51477 genome.wustl.edu 37 19 18546720 18546720 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016368.4 -1 validated p.I329 1.000 82 0% 100 48% 344 42.4% - - - HMMPfam_NAD_binding_5,HMMPfam_Inos-1-P_synth,superfamily_NAD(P)-binding Rossmann-fold domains,superfamily_Glyceraldehyde-3-phosphate dehydrogenase-like C-terminal domain SUGP2 10147 genome.wustl.edu 37 19 19135736 19135736 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001017392.3 -1 reviewed p.S474Y 0.983 129 0% 162 13% 9 0% probably_damaging(0.998) tolerated(0.11) deleterious(0.746) NULL SUGP1 57794 genome.wustl.edu 37 19 19389559 19389559 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_172231.2 -1 validated p.I525 0.971 83 0% 81 34.6% 61 37.7% - - - NULL TSSK6 83983 genome.wustl.edu 37 19 19626000 19626000 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032037.2 -1 validated p.I79 1.000 17 0% 27 37% 3 66.6% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase ATP13A1 57130 genome.wustl.edu 37 19 19758262 19758262 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020410.2 -1 validated p.A957T 0.998 102 0% 107 46.7% 401 41.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ATP13A1 57130 genome.wustl.edu 37 19 19766983 19766983 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020410.2 -1 validated p.E365K 1.000 107 0% 100 52% 118 46.6% benign(0.201) tolerated(0.39) neutral(0.035) HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transduction domain A ZNF682 91120 genome.wustl.edu 37 19 20117852 20117852 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_033196.2 -1 validated p.V153 0.000 203 0% 242 45.5% 0 - - - - NULL ZNF90 7643 genome.wustl.edu 37 19 20216110 20216110 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_007138.1 +1 validated p.I71V 0.001 454 0% 626 10.7% 0 - benign(0) tolerated(1) - NULL ZNF85 7639 genome.wustl.edu 37 19 21117853 21117853 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003429.3 +1 validated p.V77I 0.147 204 0% 258 50% 1 0% benign(0.346) tolerated(0.47) neutral(0.120) NULL ZNF85 7639 genome.wustl.edu 37 19 21132466 21132466 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003429.3 +1 validated p.F382L 0.000 64 0% 75 45.3% 0 - benign(0) tolerated(0.61) neutral(0.004) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF431 170959 genome.wustl.edu 37 19 21349217 21349217 + Nonsense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_133473.2 +1 validated p.L59* 0.029 389 0% 478 43.3% 0 - - - - HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF493 284443 genome.wustl.edu 37 19 21607155 21607155 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001076678.2 +1 validated p.R565I 0.937 84 1.2% 89 53.9% 0 - benign(0.087) tolerated(0.1) neutral(0.293) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF429 353088 genome.wustl.edu 37 19 21720273 21720273 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001001415.2 +1 provisional p.R473I 0.989 77 0% 71 40.8% 4 75% benign(0.009) tolerated(0.21) neutral(0.044) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF43 7594 genome.wustl.edu 37 19 21992174 21992174 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003423.2 -1 validated p.R222I 0.000 128 0% 176 44.9% 1 0% benign(0.027) tolerated(0.26) neutral(0.036) HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF208 7757 genome.wustl.edu 37 19 22154752 22154752 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_007153.3 -1 provisional p.P900 0.062 263 0.4% 331 44.4% 0 - - - - superfamily_SSF57667 ZNF208 7757 genome.wustl.edu 37 19 22156779 22156779 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_007153.3 -1 provisional p.F353V 0.000 79 0% 146 48.6% 0 - possibly_damaging(0.915) tolerated(0.34) neutral(0.390) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF676 163223 genome.wustl.edu 37 19 22362861 22362861 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001001411.2 -1 provisional p.R553I 0.885 65 0% 67 22.4% 0 - benign(0.176) tolerated(0.26) neutral(0.050) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 LOC100287226 100287226 genome.wustl.edu 37 19 22496669 22496669 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_002343636.1 +1 model p.Q17H 0.000 87 0% 124 44.4% 0 - possibly_damaging(0.791) tolerated(0.07) deleterious(0.615) superfamily_C2H2 and C2HC zinc fingers LOC100287226 100287226 genome.wustl.edu 37 19 22497070 22497070 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_002343636.1 +1 model p.R151I 0.753 30 0% 33 27.3% 0 - benign(0.017) tolerated(0.2) neutral(0.050) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers LOC100287226 100287226 genome.wustl.edu 37 19 22498066 22498066 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_002343636.1 +1 model p.A483D 0.000 32 0% 50 42% 0 - possibly_damaging(0.678) tolerated(0.17) neutral(0.300) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers LOC100287226 100287226 genome.wustl.edu 37 19 22499286 22499286 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_002343636.1 +1 model p.E890* 0.000 97 0% 119 48.7% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ENSG00000213974 0 genome.wustl.edu 37 19 22785676 22785676 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000397112 +1 known p.G151* 1.000 29 0% 34 47.1% 0 - - - - NULL ZNF492 57615 genome.wustl.edu 37 19 22847037 22847037 + Missense_Mutation SNP G G T rs186644138 by1000genomes TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020855.2 +1 validated p.R189I 0.939 245 0% 313 42.5% 0 - benign(0.001) tolerated(0.14) neutral(0.249) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF99 7652 genome.wustl.edu 37 19 22939262 22939262 + Missense_Mutation SNP T T A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001080409.1 -1 provisional p.K970I 1.000 91 0% 128 18% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_SSF57667 ZNF99 7652 genome.wustl.edu 37 19 22939831 22939831 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001080409.1 -1 provisional p.E834* 0.940 194 0% 238 45.8% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF99 7652 genome.wustl.edu 37 19 22941379 22941379 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001080409.1 -1 provisional p.K353N 0.023 209 0% 299 46.8% 0 - probably_damaging(1) tolerated(0.11) deleterious(0.772) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 LOC646864 646864 genome.wustl.edu 37 19 23040607 23040607 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_001726885.1 +1 model p.R334I 0.995 25 0% 30 40% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers LOC646864 646864 genome.wustl.edu 37 19 23040775 23040775 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_001726885.1 +1 model p.R390I 0.717 25 0% 32 31.2% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF728 388523 genome.wustl.edu 37 19 23157994 23157994 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_001726961.1 -1 model p.R669I 0.001 22 0% 32 40.6% 0 - - - - HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF728 388523 genome.wustl.edu 37 19 23159044 23159044 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_001726961.1 -1 model p.E365D 1.000 58 0% 69 44.9% 0 - - - - superfamily_C2H2 and C2HC zinc fingers ZNF728 388523 genome.wustl.edu 37 19 23171144 23171144 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_001726961.1 -1 model p.R38I 0.957 575 0% 652 44.8% 0 - - - - HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF724P 440519 genome.wustl.edu 37 19 23406078 23406078 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000418100 -1 known p.S323 0.000 32 0% 39 43.6% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF675 171392 genome.wustl.edu 37 19 23836976 23836976 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_138330.2 -1 validated p.E253D 1.000 154 0% 187 43.9% 2 100% possibly_damaging(0.773) tolerated(0.08) deleterious(0.587) superfamily_C2H2 and C2HC zinc fingers URI1 8725 genome.wustl.edu 37 19 30498484 30498484 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003796.2 +1 reviewed p.E209* 1.000 307 0% 340 37.4% 28 0% - - - NULL ZNF536 9745 genome.wustl.edu 37 19 31040009 31040009 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014717.1 +1 provisional p.L1161 0.962 28 0% 52 44.2% 0 - - - - NULL SLC7A9 11136 genome.wustl.edu 37 19 33349411 33349411 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001126335.1 -1 reviewed p.I304 0.054 136 0% 162 43.2% 0 - - - - HMMPfam_AA_permease CEP89 84902 genome.wustl.edu 37 19 33390846 33390846 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032816.3 -1 validated p.E598K 0.976 340 0% 453 45.5% 5 40% probably_damaging(0.998) tolerated(0.64) deleterious(0.477) NULL RHPN2 85415 genome.wustl.edu 37 19 33481449 33481449 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_033103.4 -1 reviewed p.V591M 0.876 84 0% 134 26.9% 119 19.3% probably_damaging(0.964) deleterious(0) deleterious(0.851) HMMSmart_PDZ,superfamily_PDZ GPATCH1 55094 genome.wustl.edu 37 19 33587333 33587333 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018025.2 +1 provisional p.K278T 0.991 147 0% 146 43.8% 1 100% probably_damaging(0.978) deleterious(0.04) deleterious(0.769) NULL GPATCH1 55094 genome.wustl.edu 37 19 33603492 33603492 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018025.2 +1 provisional p.R622I 1.000 201 0% 267 36.3% 4 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL GPATCH1 55094 genome.wustl.edu 37 19 33617535 33617535 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018025.2 +1 provisional p.K887N 1.000 237 0% 245 38.4% 3 33.3% unknown(0) deleterious(0) - NULL WDR88 126248 genome.wustl.edu 37 19 33651323 33651323 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_173479.3 +1 validated p.S334F 1.000 513 0% 558 46.4% 0 - probably_damaging(0.998) deleterious(0.03) deleterious(0.839) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 LRP3 4037 genome.wustl.edu 37 19 33697018 33697018 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002333.3 +1 validated p.D448N 0.995 10 0% 18 50% 406 44.5% possibly_damaging(0.586) deleterious(0) deleterious(0.647) HMMSmart_LDLa,superfamily_LDL_rcpt_classA_cys-rich KIAA0355 9710 genome.wustl.edu 37 19 34832351 34832351 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014686.3 +1 validated p.Q504 1.000 66 0% 83 16.9% 18 5.5% - - - NULL ZNF30 90075 genome.wustl.edu 37 19 35434550 35434550 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001099437.1 +1 validated p.T228I 0.408 99 0% 87 14.9% 4 0% possibly_damaging(0.606) deleterious(0.02) deleterious(0.593) superfamily_C2H2 and C2HC zinc fingers HPN 3249 genome.wustl.edu 37 19 35551285 35551285 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002151.2 +1 reviewed p.I163 0.758 29 0% 31 41.9% 128 49.2% - - - HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys CD22 933 genome.wustl.edu 37 19 35828857 35828857 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001771.3 +1 validated p.K306N 0.030 83 0% 116 18.1% 7 0% probably_damaging(0.989) tolerated(0.14) deleterious(0.689) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin FFAR3 2865 genome.wustl.edu 37 19 35850746 35850746 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005304.3 +1 validated p.Q318H 0.000 203 0% 266 15% 0 - benign(0.003) tolerated(0.11) neutral(0.272) superfamily_SSF81321 MLL4 9757 genome.wustl.edu 37 19 36210704 36210704 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014727.1 +1 reviewed p.R152Q 1.000 9 0.000 21 0.381 10 40% unknown(0) - - NULL MLL4 9757 genome.wustl.edu 37 19 36214068 36214068 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014727.1 +1 reviewed p.R965L 1.000 51 0% 55 34.5% 18 16.6% possibly_damaging(0.847) - - HMMPfam_zf-CXXC MLL4 9757 genome.wustl.edu 37 19 36229236 36229236 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014727.1 +1 reviewed p.T2642 0.017 48 0% 82 34.1% 305 26.8% - - - HMMPfam_SET,HMMSmart_SM00317,superfamily_SET domain MLL4 9757 genome.wustl.edu 37 19 36229444 36229444 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014727.1 +1 reviewed p.R2712W 1.000 31 3.2% 58 37.9% 222 50.4% probably_damaging(1) - - HMMSmart_SM00508 NPHS1 4868 genome.wustl.edu 37 19 36341942 36341942 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004646.3 -1 reviewed p.T149 0.998 67 0% 75 52% 0 - - - - HMMPfam_C2-set_2,superfamily_Immunoglobulin HCST 10870 genome.wustl.edu 37 19 36394310 36394310 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014266.3 +1 reviewed p.G34D 0.000 88 0% 84 31% 11 9% unknown(0) tolerated(0.71) - HMMPfam_DAP10 C19orf46 163183 genome.wustl.edu 37 19 36497461 36497461 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001039876.1 -1 validated p.S244F 0.947 31 0% 37 45.9% 0 - possibly_damaging(0.92) deleterious(0.01) deleterious(0.776) NULL ZNF345 25850 genome.wustl.edu 37 19 37368616 37368616 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003419.3 +1 provisional p.F295C 0.998 156 0% 198 44.4% 4 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF420 147923 genome.wustl.edu 37 19 37618789 37618789 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_144689.3 +1 provisional p.R299I 0.999 129 0.8% 186 36.6% 0 - probably_damaging(0.996) tolerated(0.19) deleterious(0.511) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF585A 199704 genome.wustl.edu 37 19 37644119 37644119 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152655.2 -1 validated p.D173Y 0.299 242 0% 252 36.5% 0 - probably_damaging(1) tolerated(1) deleterious(0.500) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF585A 199704 genome.wustl.edu 37 19 37647227 37647227 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000356958 -1 known p.D35N 0.894 161 0% 276 46.7% 1 0% benign(0) tolerated(0.36) neutral(0.020) HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF585B 92285 genome.wustl.edu 37 19 37676310 37676310 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152279.3 -1 validated p.R710Q 0.935 377 0% 457 43.8% 2 0% probably_damaging(0.998) deleterious(0.04) deleterious(0.823) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF570 148268 genome.wustl.edu 37 19 37961272 37961272 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_144694.1 +1 provisional p.L6I 0.999 352 0% 403 31% 4 50% benign(0.15) tolerated(0.22) neutral(0.055) NULL ZNF570 148268 genome.wustl.edu 37 19 37975993 37975993 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_144694.1 +1 provisional p.R490K 1.000 205 0% 278 40.3% 1 0% benign(0.002) tolerated(0.16) neutral(0.059) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF540 163255 genome.wustl.edu 37 19 38102518 38102518 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152606.3 +1 validated p.L113M 0.000 159 0% 222 42.3% 0 - benign(0.072) tolerated(0.23) neutral(0.046) NULL ZNF781 163115 genome.wustl.edu 37 19 38160221 38160221 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152605.3 -1 validated p.E277* 0.970 253 0% 369 44.4% 0 - - - - NULL ZNF607 84775 genome.wustl.edu 37 19 38189357 38189357 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032689.4 -1 validated p.K559E 1.000 85 0% 83 39.8% 1 0% probably_damaging(0.997) deleterious(0) deleterious(0.911) superfamily_C2H2 and C2HC zinc fingers WDR87 83889 genome.wustl.edu 37 19 38379271 38379271 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_031951.3 -1 provisional p.E1641D 0.125 276 0% 335 44.2% 0 - probably_damaging(0.967) - - superfamily_WD40 repeat-like,superfamily_ARM repeat WDR87 83889 genome.wustl.edu 37 19 38379394 38379394 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_031951.3 -1 provisional p.E1600D 0.678 453 0.2% 511 43.4% 0 - probably_damaging(0.967) - - superfamily_WD40 repeat-like,superfamily_ARM repeat WDR87 83889 genome.wustl.edu 37 19 38380081 38380081 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_031951.3 -1 provisional p.K1371N 0.920 337 0% 344 16.6% 0 - possibly_damaging(0.553) - - superfamily_WD40 repeat-like,superfamily_ARM repeat WDR87 83889 genome.wustl.edu 37 19 38384165 38384165 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_031951.3 -1 provisional p.Q687H 0.274 92 0% 108 47.2% 0 - probably_damaging(0.996) - - superfamily_WD40 repeat-like WDR87 83889 genome.wustl.edu 37 19 38386834 38386834 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000447313 -1 known p.D64Y 0.393 106 0% 137 40.1% 0 - probably_damaging(0.991) - - NULL RYR1 6261 genome.wustl.edu 37 19 38998418 38998418 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000540.2 +1 reviewed p.Q2961 1.000 122 0% 160 48.7% 0 - - - - NULL ACTN4 81 genome.wustl.edu 37 19 39200067 39200067 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004924.3 +1 reviewed p.F228 0.958 102 0% 154 12.3% 964 19.3% - - - HMMPfam_CH,HMMSmart_CH,superfamily_Calponin-homology SIRT2 22933 genome.wustl.edu 37 19 39380342 39380342 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_012237.2 -1 reviewed p.P140H 1.000 229 0% 216 50.5% 58 37.9% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SIR2,superfamily_DHS-like NAD/FAD-binding domain SIRT2 22933 genome.wustl.edu 37 19 39380378 39380378 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_012237.2 -1 reviewed p.P128L 1.000 178 0% 175 38.9% 49 40.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SIR2,superfamily_DHS-like NAD/FAD-binding domain FBXO17 115290 genome.wustl.edu 37 19 39439268 39439268 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_148169.1 -1 reviewed p.E143* 1.000 82 0% 113 45.1% 1 0% - - - HMMPfam_FBA,superfamily_Galactose-binding domain-like NCCRP1 342897 genome.wustl.edu 37 19 39691087 39691087 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001001414.1 +1 provisional p.R217Q 0.721 19 0% 32 50% 5 0% probably_damaging(0.988) tolerated(0.58) neutral(0.443) HMMPfam_FBA,superfamily_Gal_bind_like NCCRP1 342897 genome.wustl.edu 37 19 39691335 39691335 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001001414.1 +1 provisional p.P256H 0.277 42 0% 63 34.9% 6 50% possibly_damaging(0.611) tolerated(0.55) neutral(0.218) HMMPfam_FBA,superfamily_Gal_bind_like SAMD4B 55095 genome.wustl.edu 37 19 39847541 39847541 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018028.2 +1 provisional p.F3S 1.000 46 0% 65 43.1% 30 63.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PLEKHG2 64857 genome.wustl.edu 37 19 39911448 39911448 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_022835.2 +1 validated p.R452Q 0.960 100 0% 132 40.9% 9 44.4% possibly_damaging(0.647) deleterious(0.01) deleterious(0.633) NULL FCGBP 8857 genome.wustl.edu 37 19 40354500 40354500 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003890.2 -1 validated p.E5323D 0.000 50 0% 59 25.4% 77 6.4% possibly_damaging(0.888) tolerated(0.62) neutral(0.351) HMMPfam_VWD,HMMSmart_VWD FCGBP 8857 genome.wustl.edu 37 19 40399290 40399290 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003890.2 -1 validated p.Q2135H 0.101 104 0% 132 13.6% 21 14.2% unknown(0) tolerated(0.26) - HMMPfam_VWD,HMMSmart_VWD FCGBP 8857 genome.wustl.edu 37 19 40408106 40408106 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003890.2 -1 validated p.E1539K 0.886 130 0% 180 35% 1 0% probably_damaging(1) tolerated(0.31) deleterious(0.527) superfamily_Cysrich_TIL,HMMPfam_TIL ZNF546 339327 genome.wustl.edu 37 19 40520055 40520055 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_178544.3 +1 validated p.R293I 1.000 177 0% 221 51.6% 0 - possibly_damaging(0.657) tolerated(0.11) deleterious(0.503) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF546 339327 genome.wustl.edu 37 19 40520475 40520475 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000444043 +1 known p.E49* 0.005 81 0% 130 42.3% 1 0% probably_damaging(0.988) tolerated(0.1) deleterious(0.724) NULL ZNF780A 284323 genome.wustl.edu 37 19 40580649 40580649 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001142577.1 -1 validated p.R568Q 0.000 246 0% 320 19.7% 4 0% possibly_damaging(0.895) tolerated(0.21) neutral(0.397) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers LOC100289661 100289661 genome.wustl.edu 37 19 40710446 40710446 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_002343682.1 -1 model p.D528N 1.000 38 0% 47 61.7% 9 33.3% - - - NULL AKT2 208 genome.wustl.edu 37 19 40762851 40762851 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001626.3 -1 reviewed p.N53H 1.000 131 0% 152 32.2% 49 42.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 PRX 57716 genome.wustl.edu 37 19 40903085 40903085 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_181882.2 -1 reviewed p.R392* 1.000 31 0% 37 51.4% 1 0% - - - NULL PRX 57716 genome.wustl.edu 37 19 40904691 40904691 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_181882.2 -1 reviewed p.E73K 1.000 21 0% 47 38.3% 2 50% possibly_damaging(0.481) deleterious(0.03) deleterious(0.524) HMMSmart_SM00228,superfamily_PDZ domain-like SPTBN4 57731 genome.wustl.edu 37 19 41000825 41000825 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020971.2 +1 reviewed p.Q203H 0.995 297 0% 427 11.2% 1 0% benign(0.001) tolerated(0.51) neutral(0.009) HMMPfam_CH,HMMSmart_SM00033,superfamily_Calponin-homology domain CH-domain LTBP4 8425 genome.wustl.edu 37 19 41132887 41132887 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001042544.1 +1 reviewed p.S1398L 0.997 70 0% 96 47.9% 96 17.7% - - - NULL ITPKC 80271 genome.wustl.edu 37 19 41231306 41231306 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_025194.2 +1 reviewed p.R406Q 1.000 109 0% 150 43.3% 8 50% possibly_damaging(0.836) tolerated(0.06) deleterious(0.642) HMMPfam_IPK CYP2A6 1548 genome.wustl.edu 37 19 41351385 41351385 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000762.5 -1 reviewed p.A325 0.995 199 0% 351 41.9% 0 - - - - HMMPfam_p450,superfamily_Cytochrome P450 CYP2A13 1553 genome.wustl.edu 37 19 41601815 41601815 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000766.3 +1 reviewed p.R485Q 0.000 161 0% 228 43% 0 - possibly_damaging(0.669) tolerated(0.06) deleterious(0.559) HMMPfam_p450,superfamily_Cytochrome_P450 AXL 558 genome.wustl.edu 37 19 41762480 41762480 + Silent SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_021913.3 +1 reviewed p.S720 1.000 107 0% 129 43.4% 25 0% - - - HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) HNRNPUL1 11100 genome.wustl.edu 37 19 41800349 41800349 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_007040.3 +1 reviewed p.I458T 1.000 104 0% 112 45.5% 356 41% possibly_damaging(0.906) deleterious(0) deleterious(0.804) superfamily_P-loop containing nucleoside triphosphate hydrolases CCDC97 90324 genome.wustl.edu 37 19 41828592 41828592 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_052848.1 +1 provisional p.A335V 0.164 83 0% 117 11.1% 102 12.7% unknown(0) tolerated(1) - NULL BCKDHA 593 genome.wustl.edu 37 19 41916712 41916712 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000709.3 +1 reviewed p.E93 1.000 47 0% 47 44.7% 84 54.7% - - - superfamily_SSF52518 CD79A 973 genome.wustl.edu 37 19 42383220 42383220 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001783.3 +1 reviewed p.F80L 0.000 45 0% 59 47.5% 0 - benign(0.032) tolerated(0.88) neutral(0.002) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin ARHGEF1 9138 genome.wustl.edu 37 19 42409408 42409408 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_199002.1 +1 reviewed p.P792 0.844 35 0% 45 46.7% 60 50% - - - NULL ATP1A3 478 genome.wustl.edu 37 19 42471214 42471214 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000441343 -1 known p.S1067Y 0.616 68 0% 115 44.3% 0 - unknown(0) - - NULL ATP1A3 478 genome.wustl.edu 37 19 42485938 42485938 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152296.3 -1 reviewed p.H413R 1.000 96 0% 129 37.2% 0 - benign(0) tolerated(1) - HMMPfam_Hydrolase,superfamily_SSF56784,superfamily_SSF81660,superfamily_SSF81665 ATP1A3 478 genome.wustl.edu 37 19 42489181 42489181 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152296.3 -1 reviewed p.V294 0.892 154 0% 193 48.2% 0 - - - - HMMPfam_E1-E2_ATPase,superfamily_SSF81665 GSK3A 2931 genome.wustl.edu 37 19 42741054 42741054 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_019884.2 -1 validated p.N171D 1.000 173 0% 229 51.5% 145 40% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase ERF 2077 genome.wustl.edu 37 19 42753519 42753519 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006494.2 -1 validated p.P249T 1.000 14 0% 20 30% 66 43.9% benign(0.038) tolerated(0.11) neutral(0.274) NULL PSG3 5671 genome.wustl.edu 37 19 43233279 43233279 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_021016.3 -1 validated p.V413 0.001 353 0% 411 47.7% 0 - - - - NULL PSG1 5669 genome.wustl.edu 37 19 43348515 43348515 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000449000 -1 known p.V413 0.010 436 0% 431 34.1% 0 - - - - HMMSmart_SM00409 PSG6 5675 genome.wustl.edu 37 19 43411128 43411128 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002782.3 -1 provisional p.R396C 0.000 432 0% 518 44.6% 0 - possibly_damaging(0.946) tolerated(0.18) neutral(0.446) HMMSmart_IGc2,superfamily_SSF48726 PSG7 5676 genome.wustl.edu 37 19 43430157 43430157 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002783.2 -1 reviewed p.I337M 0.035 261 0% 330 40.6% 0 - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) superfamily_Immunoglobulin ZNF576 79177 genome.wustl.edu 37 19 44103327 44103327 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001145347.1 +1 validated p.A144T 0.916 36 0% 67 43.3% 48 47.9% benign(0.019) tolerated(1) neutral(0.001) HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2 SRRM5 100170229 genome.wustl.edu 37 19 44117906 44117906 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001145641.1 +1 validated p.R545C 0.000 375 0% 342 42.1% 0 - benign(0.043) tolerated(0.07) neutral(0.322) NULL SMG9 56006 genome.wustl.edu 37 19 44237604 44237604 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_019108.2 -1 validated p.G404V 1.000 148 0% 227 48% 94 39.3% probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL ZNF283 284349 genome.wustl.edu 37 19 44351349 44351349 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_181845.1 +1 validated p.R199I 0.000 84 0% 104 34.6% 2 0% possibly_damaging(0.802) tolerated(0.19) neutral(0.351) superfamily_C2H2 and C2HC zinc fingers ZNF404 342908 genome.wustl.edu 37 19 44377242 44377242 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001033719.2 -1 validated p.R375I 0.928 97 0% 100 23% 1 0% probably_damaging(0.997) tolerated(0.07) deleterious(0.785) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF230 7773 genome.wustl.edu 37 19 44514754 44514754 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006300.3 +1 validated p.R188I 0.937 203 0% 272 43.4% 5 80% probably_damaging(0.999) tolerated(0.05) deleterious(0.836) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF223 7766 genome.wustl.edu 37 19 44571004 44571004 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_013361.4 +1 validated p.E341D 1.000 113 0% 149 38.9% 6 50% benign(0.004) tolerated(0.11) neutral(0.272) superfamily_C2H2 and C2HC zinc fingers ZNF226 7769 genome.wustl.edu 37 19 44681501 44681501 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001032372.1 +1 validated p.E696* 1.000 267 0% 377 25.7% 8 50% - - - superfamily_SSF57667 ZNF235 9310 genome.wustl.edu 37 19 44792304 44792304 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004234.4 -1 reviewed p.E428D 1.000 167 0% 203 43.8% 1 0% probably_damaging(0.987) deleterious(0.01) deleterious(0.842) superfamily_C2H2 and C2HC zinc fingers ZNF180 7733 genome.wustl.edu 37 19 44981821 44981821 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_013256.3 -1 validated p.K293Q 0.027 186 0% 216 40.7% 1 100% possibly_damaging(0.893) tolerated(0.07) deleterious(0.671) superfamily_C2H2 and C2HC zinc fingers ZNF180 7733 genome.wustl.edu 37 19 44981904 44981904 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_013256.3 -1 validated p.R265I 0.965 106 0% 129 42.6% 1 100% probably_damaging(0.992) deleterious(0) deleterious(0.892) superfamily_C2H2 and C2HC zinc fingers ZNF296 162979 genome.wustl.edu 37 19 45575217 45575217 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_145288.1 -1 provisional p.T357M 0.000 62 0% 55 43.6% 0 - possibly_damaging(0.772) tolerated(0.08) deleterious(0.587) NULL EXOC3L2 90332 genome.wustl.edu 37 19 45716340 45716340 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_138568.3 -1 validated p.R406Q 0.410 4 0.000 12 0.417 4 0% unknown(0) tolerated(0.41) - NULL HIF3A 64344 genome.wustl.edu 37 19 46834522 46834522 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152795.2 +1 reviewed p.L608I 0.998 122 0% 152 36.8% 0 - benign(0.224) tolerated(0.2) neutral(0.071) NULL PRKD2 25865 genome.wustl.edu 37 19 47197301 47197301 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001079880.1 -1 reviewed p.I469 0.648 35 0% 56 41.1% 87 42.5% - - - HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like STRN4 29888 genome.wustl.edu 37 19 47230775 47230775 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001039877.1 -1 validated p.G401 1.000 101 0% 84 29.8% 83 16.8% - - - NULL ARHGAP35 2909 genome.wustl.edu 37 19 47422932 47422932 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004491.4 +1 reviewed p.E334K 1.000 43 0% 51 25.5% 2 0% probably_damaging(0.982) tolerated(0.78) neutral(0.427) NULL ARHGAP35 2909 genome.wustl.edu 37 19 47423130 47423130 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004491.4 +1 reviewed p.E400K 0.994 92 0% 109 45% 3 33.3% benign(0.418) tolerated(0.25) neutral(0.173) HMMSmart_SM00441 ARHGAP35 2909 genome.wustl.edu 37 19 47424921 47424921 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004491.4 +1 reviewed p.R997* 1.000 76 0% 76 38.2% 7 0% - - - NULL ARHGAP35 2909 genome.wustl.edu 37 19 47425048 47425048 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004491.4 +1 reviewed p.P1039L 1.000 33 0% 54 31.5% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL DHX34 9704 genome.wustl.edu 37 19 47856588 47856588 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014681.5 +1 reviewed p.D101N 1.000 47 0% 69 47.8% 37 45.9% possibly_damaging(0.813) deleterious(0.02) deleterious(0.690) NULL KPTN 11133 genome.wustl.edu 37 19 47978758 47978758 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_007059.2 -1 validated p.R409Q 0.776 100 0% 98 52% 11 36.3% probably_damaging(0.994) tolerated(0.13) deleterious(0.705) NULL KPTN 11133 genome.wustl.edu 37 19 47984032 47984032 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_007059.2 -1 validated p.T195M 0.994 106 0% 117 29.9% 12 33.3% possibly_damaging(0.946) tolerated(0.15) deleterious(0.631) NULL ZNF541 84215 genome.wustl.edu 37 19 48043096 48043096 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000263351 -1 known p.C478* 0.998 113 0% 151 47.7% 1 0% possibly_damaging(0.74) deleterious(0.05) deleterious(0.617) NULL ELSPBP1 64100 genome.wustl.edu 37 19 48519223 48519223 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_022142.3 +1 reviewed p.F94L 0.000 120 0% 157 45.9% 0 - benign(0.001) tolerated(0.76) neutral(0.001) HMMPfam_fn2,HMMSmart_SM00059,superfamily_Kringle-like ELSPBP1 64100 genome.wustl.edu 37 19 48522988 48522988 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_022142.3 +1 reviewed p.N123T 0.614 162 0% 171 48.5% 0 - possibly_damaging(0.915) deleterious(0.04) deleterious(0.716) HMMSmart_SM00059,superfamily_Kringle-like ELSPBP1 64100 genome.wustl.edu 37 19 48522991 48522991 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_022142.3 +1 reviewed p.S124Y 0.597 161 0% 173 41.6% 0 - probably_damaging(0.96) deleterious(0) deleterious(0.848) HMMSmart_SM00059,superfamily_Kringle-like PLA2G4C 8605 genome.wustl.edu 37 19 48578123 48578123 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003706.2 -1 reviewed p.G303S 0.000 140 0% 191 30.4% 1 0% benign(0.033) tolerated(1) neutral(0.002) HMMSmart_PLAc,superfamily_Acyl_Trfase/lysoPlipase PLA2G4C 8605 genome.wustl.edu 37 19 48608642 48608642 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003706.2 -1 reviewed p.R23Q 0.539 262 0% 261 47.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_PLAc,superfamily_Acyl_Trfase/lysoPlipase CCDC114 93233 genome.wustl.edu 37 19 48801292 48801292 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_144577.3 -1 validated p.P452 0.000 49 0% 50 42% 4 0% - - - NULL GRIN2D 2906 genome.wustl.edu 37 19 48922911 48922911 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000836.2 +1 reviewed p.S644L 1.000 91 0% 122 42.6% 1 0% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_Lig_chan,HMMSmart_PBPe,superfamily_SSF53850 GRIN2D 2906 genome.wustl.edu 37 19 48945113 48945113 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000836.2 +1 reviewed p.S780 0.224 32 0% 41 51.2% 8 75% - - - HMMPfam_Lig_chan,HMMSmart_PBPe,superfamily_SSF53850 LMTK3 114783 genome.wustl.edu 37 19 49012771 49012771 + Splice_Site SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001080434.1 -1 provisional e5-1 1.000 69 0% 61 13.1% 0 - - - - - MAMSTR 284358 genome.wustl.edu 37 19 49222283 49222283 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001130915.1 -1 validated p.T2 1.000 74 0% 103 27.2% 0 - - - - NULL PPP1R15A 23645 genome.wustl.edu 37 19 49376700 49376700 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014330.3 +1 validated p.I70 0.000 84 0% 120 15.8% 7 0% - - - NULL KCNA7 3743 genome.wustl.edu 37 19 49573775 49573775 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_031886.2 -1 reviewed p.R306W 0.974 67 0% 58 53.4% 0 - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_Ion_trans,superfamily_SSF81324 SNRNP70 6625 genome.wustl.edu 37 19 49601736 49601736 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003089.4 +1 validated p.F106 0.998 133 0% 164 43.3% 135 47.4% - - - HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD SCAF1 58506 genome.wustl.edu 37 19 50155979 50155979 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_021228.2 +1 validated p.R778Q 0.956 32 0% 31 48.4% 65 36.9% probably_damaging(0.963) deleterious(0) deleterious(0.850) NULL AP2A1 160 genome.wustl.edu 37 19 50285820 50285820 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014203.2 +1 reviewed p.S104 0.042 63 0% 88 40.9% 221 38.4% - - - HMMPfam_Adaptin_N,superfamily_ARM repeat AP2A1 160 genome.wustl.edu 37 19 50303015 50303015 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014203.2 +1 reviewed p.E422K 0.999 48 0% 57 40.4% 889 37.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Adaptin_N,superfamily_ARM repeat PNKP 11284 genome.wustl.edu 37 19 50365987 50365987 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_007254.2 -1 provisional p.D275 0.997 33 0% 52 42.3% 60 40% - - - HMMPfam_PNK3P,superfamily_SSF56784 IL4I1 259307 genome.wustl.edu 37 19 50398344 50398344 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_172374.1 -1 reviewed p.R138C 1.000 57 0% 52 44.2% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Amino_oxidase,superfamily_FAD/NAD(P)-binding domain NUP62 23636 genome.wustl.edu 37 19 50412114 50412114 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_012346.3 -1 reviewed p.G317 0.000 40 0% 33 42.4% 15 40% - - - HMMPfam_Nsp1_C NUP62 23636 genome.wustl.edu 37 19 50412640 50412640 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_012346.3 -1 reviewed p.F142S 1.000 101 0% 105 45.7% 71 39.4% possibly_damaging(0.839) deleterious(0.01) deleterious(0.726) NULL SIGLEC16 400709 genome.wustl.edu 37 19 50473756 50473756 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000417280 +1 known p.L213F 0.000 293 0% 355 27.9% 0 - possibly_damaging(0.92) deleterious(0.01) deleterious(0.776) HMMSmart_SM00409,HMMPfam_C2-set_2,superfamily_Immunoglobulin MYH14 79784 genome.wustl.edu 37 19 50789769 50789769 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001077186.1 +1 reviewed p.R1491W 0.997 26 0% 60 43.3% 325 52% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Myosin_tail_1 MYBPC2 4606 genome.wustl.edu 37 19 50965290 50965290 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004533.3 +1 validated p.P1075 0.005 42 0% 51 39.2% 0 - - - - HMMSmart_IGc2,HMMPfam_I-set,superfamily_SSF48726 FAM71E1 112703 genome.wustl.edu 37 19 50979135 50979135 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_138411.1 -1 predicted p.F105 1.000 75 0% 92 43.5% 6 66.6% - - - NULL JOSD2 126119 genome.wustl.edu 37 19 51013622 51013622 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_138334.2 -1 provisional p.L23 1.000 53 0% 56 44.6% 24 33.3% - - - HMMPfam_Josephin JOSD2 126119 genome.wustl.edu 37 19 51013627 51013627 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_138334.2 -1 provisional p.L21P 1.000 49 0% 62 48.4% 27 29.6% probably_damaging(0.999) deleterious(0.05) deleterious(0.836) HMMPfam_Josephin SYT3 84258 genome.wustl.edu 37 19 51132722 51132722 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032298.2 -1 validated p.F370L 1.000 69 0% 97 51.5% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB SYT3 84258 genome.wustl.edu 37 19 51136015 51136015 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032298.2 -1 validated p.L68 1.000 84 0% 118 44.9% 0 - - - - NULL KLK2 3817 genome.wustl.edu 37 19 51381667 51381667 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005551.3 +1 validated p.S213Y 1.000 237 0% 310 43.5% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases,PatternScan_TRYPSIN_SER LOC390956 390956 genome.wustl.edu 37 19 51430518 51430518 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_372741.4 -1 model p.G126V 1.000 16 0% 35 40% 0 - - - - HMMPfam_Pro_isomerase,superfamily_Cyclophilin-like KLK14 43847 genome.wustl.edu 37 19 51581280 51581280 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_022046.4 -1 validated p.T263M 0.007 74 0% 89 47.2% 83 44.5% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Pept_Ser_Cys SIGLEC9 27180 genome.wustl.edu 37 19 51628597 51628597 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014441.1 +1 provisional p.E122D 0.004 125 0% 155 41.3% 0 - benign(0.193) tolerated(0.32) neutral(0.042) HMMSmart_IG,HMMPfam_V-set,superfamily_SSF48726 ENSG00000171101 0 genome.wustl.edu 37 19 51671097 51671097 + Silent SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000341811 +1 known p.T101 0.000 35 0% 36 47.2% 0 - - - - HMMSmart_IG,superfamily_SSF48726 CD33 945 genome.wustl.edu 37 19 51729592 51729592 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001772.3 +1 validated p.I242T 0.000 174 0% 198 45.5% 0 - possibly_damaging(0.897) deleterious(0) deleterious(0.798) NULL CEACAM18 729767 genome.wustl.edu 37 19 51984797 51984797 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001080405.1 +1 provisional p.S245Y 0.007 98 0% 139 38.1% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMSmart_SM00409,superfamily_Immunoglobulin ZNF175 7728 genome.wustl.edu 37 19 52089964 52089964 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_007147.2 +1 validated p.R127I 0.026 195 0% 224 16.1% 0 - benign(0.085) tolerated(0.17) neutral(0.065) NULL SIGLEC5 8778 genome.wustl.edu 37 19 52129327 52129327 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003830.2 -1 validated p.E474D 0.000 199 0% 193 45.6% 0 - benign(0.004) tolerated(0.55) neutral(0.007) NULL ZNF649 65251 genome.wustl.edu 37 19 52394854 52394854 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_023074.3 -1 validated p.E179* 0.000 411 0% 448 40.4% 3 33.3% - - - HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF350 59348 genome.wustl.edu 37 19 52468945 52468945 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_021632.3 -1 validated p.R254Q 0.009 228 0% 317 46.1% 5 80% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF841 284371 genome.wustl.edu 37 19 52568641 52568641 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001136499.1 -1 validated p.E832K 0.000 155 0% 199 45.7% 10 70% possibly_damaging(0.647) tolerated(0.34) neutral(0.250) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF841 284371 genome.wustl.edu 37 19 52569537 52569537 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001136499.1 -1 validated p.R533I 0.604 176 0% 227 45.8% 6 66.6% probably_damaging(0.997) tolerated(0.15) deleterious(0.707) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF616 90317 genome.wustl.edu 37 19 52619047 52619047 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_178523.3 -1 validated p.R457I 0.000 261 0% 323 42.7% 9 11.1% probably_damaging(0.998) tolerated(0.08) deleterious(0.774) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF616 90317 genome.wustl.edu 37 19 52619218 52619218 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_178523.3 -1 validated p.R400Q 0.000 276 0% 363 47.9% 11 9% benign(0.319) tolerated(0.59) neutral(0.104) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF836 162962 genome.wustl.edu 37 19 52659467 52659467 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001102657.1 -1 provisional p.R490K 0.984 158 0% 182 39.6% 5 80% benign(0.249) tolerated(0.31) neutral(0.052) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF480 147657 genome.wustl.edu 37 19 52825339 52825339 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_144684.2 +1 validated p.R279I 0.145 77 0% 114 36% 1 100% possibly_damaging(0.951) tolerated(0.12) deleterious(0.655) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF528 84436 genome.wustl.edu 37 19 52918494 52918494 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032423.2 +1 validated p.S130Y 0.000 126 0% 137 42.3% 3 0% benign(0.017) tolerated(0.18) neutral(0.057) NULL ZNF534 147658 genome.wustl.edu 37 19 52937238 52937238 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001143939.1 +1 validated p.E16* 0.997 319 0% 403 40.2% 0 - - - - HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box ZNF534 147658 genome.wustl.edu 37 19 52941193 52941193 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001143939.1 +1 validated p.F173L 0.002 180 0% 218 46.8% 0 - benign(0.002) tolerated(0.73) neutral(0.002) superfamily_SSF57667 ZNF534 147658 genome.wustl.edu 37 19 52942310 52942310 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001143939.1 +1 validated p.R546W 0.000 207 0% 266 40.2% 0 - unknown(0) tolerated(0.22) - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ENSG00000248326 0 genome.wustl.edu 37 19 53016049 53016049 + RNA SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000502966 -1 novel NULL 0.983 85 0% 92 46.7% 6 16.6% - - - - ZNF701 55762 genome.wustl.edu 37 19 53086658 53086658 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018260.2 +1 validated p.R449Q 0.003 147 0% 160 45% 3 33.3% benign(0.022) tolerated(0.7) neutral(0.003) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF611 81856 genome.wustl.edu 37 19 53209269 53209269 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_030972.3 -1 validated p.E347* 0.003 182 0.5% 176 40.9% 2 50% - - - HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_Multiheme cytochromes ZNF600 162966 genome.wustl.edu 37 19 53269540 53269540 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_198457.2 -1 validated p.R490I 0.803 226 0% 270 47.8% 17 35.2% possibly_damaging(0.849) tolerated(0.08) deleterious(0.626) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF468 90333 genome.wustl.edu 37 19 53344539 53344539 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001008801.1 -1 validated p.F336 0.033 257 0% 333 39.6% 4 25% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF665 79788 genome.wustl.edu 37 19 53668902 53668902 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024733.3 -1 provisional p.Q281* 0.069 155 0% 176 47.7% 1 100% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF765 91661 genome.wustl.edu 37 19 53911569 53911569 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001040185.1 +1 provisional p.S254L 0.000 178 0% 269 39% 8 12.5% benign(0) tolerated(0.1) neutral(0.286) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF331 55422 genome.wustl.edu 37 19 54080952 54080952 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001079906.1 +1 validated p.E380K 0.987 145 0% 172 38.4% 8 12.5% possibly_damaging(0.878) deleterious(0.02) deleterious(0.725) superfamily_SSF57667 ZNF331 55422 genome.wustl.edu 37 19 54081178 54081178 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001079906.1 +1 validated p.R455Q 0.000 54 0% 53 30.2% 13 38.4% benign(0.362) tolerated(0.13) neutral(0.367) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 DPRX 503834 genome.wustl.edu 37 19 54140011 54140011 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001012728.1 +1 validated p.H115 0.000 115 0% 169 47.9% 0 - - - - NULL VSTM1 284415 genome.wustl.edu 37 19 54544253 54544253 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_198481.3 -1 validated p.P225S 0.024 124 0% 135 39.3% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL TFPT 29844 genome.wustl.edu 37 19 54618050 54618050 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_013342.3 -1 validated p.F18 1.000 24 0% 37 35.1% 49 34.6% - - - NULL LILRB5 10990 genome.wustl.edu 37 19 54759980 54759980 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001081442.1 -1 reviewed p.R194I 0.034 81 0% 84 47.6% 0 - probably_damaging(0.977) deleterious(0) deleterious(0.863) HMMSmart_SM00409,superfamily_Immunoglobulin TTYH1 57348 genome.wustl.edu 37 19 54942079 54942079 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001005367.1 +1 reviewed p.A343V 0.720 44 0% 42 50% 2 0% benign(0.005) deleterious(0.03) neutral(0.364) HMMPfam_Tweety LENG8 114823 genome.wustl.edu 37 19 54967844 54967844 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_052925.2 +1 validated p.R492Q 1.000 11 0% 18 44.4% 45 46.6% probably_damaging(0.997) tolerated(0.06) deleterious(0.788) NULL LENG8 114823 genome.wustl.edu 37 19 54969131 54969131 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_052925.2 +1 validated p.E618K 1.000 64 0% 50 44% 243 47.3% benign(0.003) deleterious(0.03) neutral(0.364) HMMPfam_SAC3_GANP KIR3DX1 90011 genome.wustl.edu 37 19 55044967 55044967 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000335056 +1 known p.F29L 0.000 147 0% 187 48.7% 0 - benign(0.002) tolerated(0.09) neutral(0.296) superfamily_Immunoglobulin KIR3DX1 90011 genome.wustl.edu 37 19 55049183 55049183 + Splice_Site SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000335056 +1 known e6-1 0.000 310 0.6% 378 41% 0 - - - - - LILRB4 11006 genome.wustl.edu 37 19 55179126 55179126 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006847.3 +1 reviewed p.A361V 0.001 217 0% 314 40.4% 13 7.6% possibly_damaging(0.662) deleterious(0) deleterious(0.678) NULL KIR3DL3 115653 genome.wustl.edu 37 19 55247441 55247441 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_153443.3 +1 reviewed p.S371P 0.000 449 0% 594 19.5% 0 - possibly_damaging(0.903) tolerated(0.21) neutral(0.402) NULL NCR1 9437 genome.wustl.edu 37 19 55424096 55424096 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004829.5 +1 validated p.R258W 0.000 205 0% 244 43.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL NLRP7 199713 genome.wustl.edu 37 19 55451208 55451208 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001127255.1 -1 reviewed p.E327K 0.000 63 0% 80 35% 0 - benign(0.055) tolerated(0.57) neutral(0.009) HMMPfam_NACHT,superfamily_P-loop containing nucleoside triphosphate hydrolases NLRP2 55655 genome.wustl.edu 37 19 55493539 55493539 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017852.3 +1 validated p.N158S 0.000 84 0% 83 37.3% 0 - benign(0) tolerated(0.37) neutral(0.019) NULL NLRP2 55655 genome.wustl.edu 37 19 55496484 55496484 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017852.3 +1 validated p.D700E 0.000 238 0% 319 41.4% 0 - benign(0.158) tolerated(0.06) neutral(0.337) superfamily_RNI-like EPS8L1 54869 genome.wustl.edu 37 19 55593883 55593883 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_133180.2 +1 reviewed p.S376L 0.000 9 0.000 14 0.571 130 50% benign(0) tolerated(0.22) neutral(0.042) NULL SYT5 6861 genome.wustl.edu 37 19 55685974 55685974 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003180.2 -1 validated p.R291W 0.997 280 0% 364 25% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB BRSK1 84446 genome.wustl.edu 37 19 55805427 55805427 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032430.1 +1 validated p.K167N 0.995 117 0% 134 53% 0 - benign(0.176) tolerated(0.16) neutral(0.075) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase RPL28 6158 genome.wustl.edu 37 19 55899675 55899675 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000991.4 +1 reviewed p.R130Q 1.000 73 0% 65 33.8% 3093 37.9% possibly_damaging(0.708) tolerated(0.15) deleterious(0.496) NULL LOC100288302 100288302 genome.wustl.edu 37 19 55995347 55995347 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_002343697.1 -1 model p.R92C 0.620 25 0% 38 55.3% 26 53.8% - - - NULL NLRP4 147945 genome.wustl.edu 37 19 56369021 56369021 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000419009 +1 known p.L13F 0.001 88 0% 135 38.5% 0 - - - - NULL NLRP8 126205 genome.wustl.edu 37 19 56466747 56466747 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_176811.2 +1 provisional p.N441 0.000 97 0% 110 36.4% 0 - - - - NULL ZSCAN5C 649137 genome.wustl.edu 37 19 56717489 56717489 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000376267 +1 known p.C69 0.089 166 0% 212 35.8% 0 - - - - HMMPfam_SCAN,HMMSmart_SCAN LOC646698 646698 genome.wustl.edu 37 19 56758153 56758153 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_001725568.1 +1 model p.E261K 0.000 180 0% 196 46.4% 0 - - - - NULL ZNF583 147949 genome.wustl.edu 37 19 56935000 56935000 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152478.2 +1 validated p.E325K 0.002 315 0% 338 47% 2 50% probably_damaging(0.999) tolerated(0.56) deleterious(0.497) HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF667 63934 genome.wustl.edu 37 19 56952584 56952584 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_022103.3 -1 validated p.R594W 0.001 162 0% 187 49.2% 2 50% probably_damaging(1) tolerated(0.17) deleterious(0.559) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF471 57573 genome.wustl.edu 37 19 57036281 57036281 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020813.2 +1 validated p.R282I 0.998 131 0% 182 45.6% 3 66.6% possibly_damaging(0.78) deleterious(0) deleterious(0.736) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF471 57573 genome.wustl.edu 37 19 57036638 57036638 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020813.2 +1 validated p.K401T 1.000 152 0% 220 43.6% 0 - probably_damaging(0.986) deleterious(0) deleterious(0.879) superfamily_SSF57667 ZNF835 90485 genome.wustl.edu 37 19 57176404 57176404 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001005850.1 -1 provisional p.D77N 0.000 159 0% 190 37.9% 0 - probably_damaging(0.988) tolerated(0.21) deleterious(0.481) NULL PEG3 5178 genome.wustl.edu 37 19 57326654 57326654 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006210.2 -1 reviewed p.I1052 0.001 242 0% 305 42.6% 1 0% - - - NULL PEG3 5178 genome.wustl.edu 37 19 57326724 57326724 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006210.2 -1 reviewed p.A1029V 0.000 208 0% 239 43.1% 1 0% benign(0.004) tolerated(0.59) neutral(0.004) NULL PEG3 5178 genome.wustl.edu 37 19 57327300 57327300 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006210.2 -1 reviewed p.S837N 0.072 157 0% 196 50% 0 - benign(0.121) tolerated(0.34) neutral(0.033) NULL ZIM3 114026 genome.wustl.edu 37 19 57646651 57646651 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_052882.1 -1 provisional p.D352N 0.002 319 0.3% 325 43.1% 0 - benign(0.043) tolerated(0.1) neutral(0.289) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 AURKC 6795 genome.wustl.edu 37 19 57746284 57746284 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001015878.1 +1 reviewed p.L206S 1.000 215 0% 279 41.6% 2 100% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase LOC100288446 100288446 genome.wustl.edu 37 19 57868518 57868518 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_002343699.1 -1 model p.E324* 0.021 96 0% 128 51.6% 4 75% possibly_damaging(0.649) tolerated(0.19) neutral(0.278) NULL ZNF548 147694 genome.wustl.edu 37 19 57910836 57910836 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152909.3 +1 validated p.K394T 0.000 87 0% 125 11.2% 6 16.6% benign(0.099) deleterious(0.01) neutral(0.413) HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF17 7565 genome.wustl.edu 37 19 57932210 57932210 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006959.2 +1 validated p.F450L 0.000 189 0% 250 41.2% 1 100% benign(0.014) tolerated(0.37) neutral(0.019) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF749 388567 genome.wustl.edu 37 19 57955047 57955047 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001023561.2 +1 provisional p.W177* 0.001 99 0% 125 28.8% 5 100% - - - superfamily_C2H2 and C2HC zinc fingers VN1R1 57191 genome.wustl.edu 37 19 57967664 57967664 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020633.2 -1 reviewed p.S64Y 0.000 64 0% 80 41.2% 0 - probably_damaging(0.96) tolerated(0.09) deleterious(0.700) superfamily_Family A G protein-coupled receptor-like ZNF416 55659 genome.wustl.edu 37 19 58084305 58084305 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017879.1 -1 provisional p.E323K 1.000 238 0% 319 37.6% 2 50% possibly_damaging(0.926) tolerated(0.07) deleterious(0.694) superfamily_SSF57667 ZNF530 348327 genome.wustl.edu 37 19 58117372 58117372 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020880.3 +1 validated p.R160M 0.000 71 0% 87 51.7% 2 100% probably_damaging(0.997) tolerated(0.08) deleterious(0.766) superfamily_SSF57667 ZNF134 7693 genome.wustl.edu 37 19 58131958 58131958 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003435.3 +1 provisional p.R157S 0.024 85 0% 106 38.7% 14 42.8% benign(0.074) deleterious(0.01) neutral(0.411) superfamily_C2H2 and C2HC zinc fingers ZSCAN4 201516 genome.wustl.edu 37 19 58187874 58187874 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152677.2 +1 validated p.D121Y 0.079 144 0% 151 40.4% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_SCAN ZSCAN4 201516 genome.wustl.edu 37 19 58190061 58190061 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152677.2 +1 validated p.G364R 0.002 85 0% 95 56.8% 0 - probably_damaging(0.991) deleterious(0.02) deleterious(0.827) superfamily_SSF57667 ZNF587 84914 genome.wustl.edu 37 19 58353600 58353600 + Silent SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_002343662.1 +1 model p.R464 0.982 132 0% 147 33.3% 2 100% - - - superfamily_C2H2 and C2HC zinc fingers ZNF418 147686 genome.wustl.edu 37 19 58439279 58439279 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_133460.1 -1 provisional p.I90 0.001 122 0% 171 21.1% 0 - - - - PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2 ZNF606 80095 genome.wustl.edu 37 19 58490271 58490271 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_025027.3 -1 validated p.E593K 1.000 194 0% 207 22.7% 4 50% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_C2H2 and C2HC zinc fingers ZNF606 80095 genome.wustl.edu 37 19 58490369 58490369 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_025027.3 -1 validated p.R560I 1.000 141 0% 171 45.6% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF135 7694 genome.wustl.edu 37 19 58578301 58578301 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003436.3 +1 validated p.T150M 0.000 121 0.8% 169 51.5% 2 50% probably_damaging(0.997) tolerated(0.06) deleterious(0.788) NULL ZNF329 79673 genome.wustl.edu 37 19 58640488 58640488 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024620.3 -1 validated p.G128D 0.001 95 0% 131 48.9% 1 0% benign(0.001) tolerated(0.06) neutral(0.323) NULL A1BG 1 genome.wustl.edu 37 19 58862888 58862888 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_130786.3 -1 reviewed p.D260G 0.007 26 0% 33 15.2% 0 - probably_damaging(0.957) tolerated(0.25) neutral(0.438) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin ZNF132 7691 genome.wustl.edu 37 19 58945109 58945109 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003433.3 -1 validated p.E568* 0.975 188 0% 195 48.2% 2 0% - - - superfamily_C2H2 and C2HC zinc fingers ZNF132 7691 genome.wustl.edu 37 19 58945637 58945637 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003433.3 -1 validated p.R392W 0.000 140 0.7% 210 42.9% 1 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF324 25799 genome.wustl.edu 37 19 58982226 58982226 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014347.1 +1 provisional p.Q123* 0.000 133 0% 145 42.8% 1 100% - - - NULL ZNF446 55663 genome.wustl.edu 37 19 58989177 58989177 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000391694 +1 known p.S2L 0.001 89 0% 97 36.1% 34 50% unknown(0) - - NULL ZNF446 55663 genome.wustl.edu 37 19 58991079 58991079 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017908.2 +1 provisional p.T233A 0.004 45 0% 41 39% 29 48.2% possibly_damaging(0.95) tolerated(0.37) neutral(0.413) HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box DEFB127 140850 genome.wustl.edu 37 20 139420 139420 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_139074.2 +1 reviewed p.E19K 0.051 91 0% 99 54.5% 0 - probably_damaging(0.981) tolerated(0.07) deleterious(0.744) NULL TRIB3 57761 genome.wustl.edu 37 20 368818 368818 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_021158.3 +1 reviewed p.A55V 0.006 57 0% 90 42.2% 8 25% probably_damaging(0.978) tolerated(0.56) neutral(0.427) NULL RAD21L1 642636 genome.wustl.edu 37 20 1276997 1276997 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000381882 +1 known p.Y508H 0.992 73 0% 93 50.5% 0 - unknown(0) - - NULL SIRPA 140885 genome.wustl.edu 37 20 1915389 1915389 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001040022.1 +1 reviewed p.E419* 1.000 317 0% 359 19.2% 6 16.6% - - - NULL ZNF343 79175 genome.wustl.edu 37 20 2464241 2464241 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024325.4 -1 validated p.E456K 0.005 175 0% 253 46.6% 8 37.5% benign(0.023) deleterious(0.03) neutral(0.365) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF343 79175 genome.wustl.edu 37 20 2464657 2464657 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024325.4 -1 validated p.R317I 0.030 112 0% 140 42.1% 4 25% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers TMC2 117532 genome.wustl.edu 37 20 2582895 2582895 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_080751.2 +1 validated p.R454Q 1.000 322 0% 341 47.8% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL TMC2 117532 genome.wustl.edu 37 20 2597954 2597954 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_080751.2 +1 validated p.F726S 1.000 73 0% 81 56.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL EBF4 57593 genome.wustl.edu 37 20 2730354 2730354 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001110514.1 +1 provisional p.F278 1.000 4 0.000 14 0.714 23 4.3% - - - HMMPfam_TIG,HMMSmart_SM00429,superfamily_E set domains PTPRA 5786 genome.wustl.edu 37 20 3007805 3007805 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002836.3 +1 reviewed p.E583K 1.000 283 0% 418 17.5% 109 16.5% probably_damaging(0.997) tolerated(0.73) neutral(0.468) HMMPfam_Y_phosphatase,HMMSmart_PTPc,superfamily_SSF52799 UBOX5 22888 genome.wustl.edu 37 20 3102640 3102640 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014948.2 -1 validated p.E215D 0.018 43 0% 31 25.8% 15 26.6% benign(0.282) tolerated(0.34) neutral(0.109) NULL FASTKD5 60493 genome.wustl.edu 37 20 3128040 3128040 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_021826.4 -1 validated p.F559L 0.945 55 0% 89 38.2% 10 50% benign(0.104) tolerated(0.84) neutral(0.009) HMMPfam_FAST_2 MAVS 57506 genome.wustl.edu 37 20 3838294 3838294 + Missense_Mutation SNP G G C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020746.3 +1 validated p.A44P 0.994 70 0% 76 19.7% 24 12.5% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL PANK2 80025 genome.wustl.edu 37 20 3897637 3897637 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_153638.2 +1 reviewed p.A492 0.009 200 0% 262 43.5% 18 50% - - - HMMPfam_Fumble,superfamily_Actin-like ATPase domain RNF24 11237 genome.wustl.edu 37 20 3914790 3914790 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001134338.1 -1 reviewed p.L144I 1.000 59 0% 48 14.6% 6 0% benign(0.101) tolerated(0.24) neutral(0.045) superfamily_RING/U-box PRNP 5621 genome.wustl.edu 37 20 4680365 4680365 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000311.3 +1 reviewed p.D167N 0.903 137 0% 193 40.4% 43 11.6% benign(0) tolerated(0.07) neutral(0.319) HMMPfam_Prion,HMMSmart_SM00157,superfamily_Prion-like BMP2 650 genome.wustl.edu 37 20 6750883 6750883 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001200.2 +1 reviewed p.S37L 0.041 8 0.000 27 0.556 0 - benign(0.033) tolerated(0.18) neutral(0.058) HMMPfam_TGFb_propeptide HAO1 54363 genome.wustl.edu 37 20 7915243 7915243 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017545.2 -1 reviewed p.E59D 0.005 51 0% 61 49.2% 0 - benign(0) tolerated(0.22) neutral(0.042) HMMPfam_FMN_dh,superfamily_FMN-linked oxidoreductases PLCB4 5332 genome.wustl.edu 37 20 9360804 9360804 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000933.3 +1 reviewed p.K283T 0.989 76 0% 104 41.3% 2 50% benign(0.002) tolerated(0.14) neutral(0.249) HMMPfam_efhand_like,superfamily_SSF47473 ANKRD5 63926 genome.wustl.edu 37 20 10036233 10036233 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_022096.4 +1 validated p.F752 0.999 152 0% 201 43.8% 5 80% - - - NULL SNAP25 6616 genome.wustl.edu 37 20 10256162 10256162 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003081.2 +1 reviewed p.R8H 1.000 160 0% 239 41.8% 1 0% probably_damaging(0.984) deleterious(0.02) deleterious(0.814) NULL BTBD3 22903 genome.wustl.edu 37 20 11903884 11903884 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014962.2 +1 validated p.S380L 1.000 91 0% 107 50.5% 31 41.9% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_PHR SEL1L2 80343 genome.wustl.edu 37 20 13912263 13912263 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_025229.1 -1 validated p.R90I 0.178 295 0% 333 39% 0 - possibly_damaging(0.688) tolerated(0.3) neutral(0.275) NULL FLRT3 23767 genome.wustl.edu 37 20 14306609 14306609 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_013281.2 -1 reviewed p.R515Q 1.000 281 0% 309 46% 0 - benign(0.049) tolerated(0.38) neutral(0.021) NULL FLRT3 23767 genome.wustl.edu 37 20 14306878 14306878 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_013281.2 -1 reviewed p.I425 0.996 101 0% 108 50% 0 - - - - HMMPfam_fn3,HMMSmart_FN3 MACROD2 140733 genome.wustl.edu 37 20 15866408 15866408 + Splice_Site SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_080676.5 +1 validated e10-1 1.000 231 0% 275 26.9% 0 - - - - - KIF16B 55614 genome.wustl.edu 37 20 16485103 16485103 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024704.3 -1 validated p.I364V 1.000 492 0% 621 15.3% 8 12.5% unknown(0) tolerated(0.87) - HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases KIF16B 55614 genome.wustl.edu 37 20 16493483 16493483 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024704.3 -1 validated p.R145Q 1.000 134 0% 188 36.2% 1 0% unknown(0) deleterious(0.03) - HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases PCSK2 5126 genome.wustl.edu 37 20 17208043 17208043 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002594.2 +1 reviewed p.T31 1.000 215 0% 279 42.7% 0 - - - - superfamily_Protease propeptides/inhibitors BFSP1 631 genome.wustl.edu 37 20 17492714 17492714 + Splice_Site SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001195.3 -1 reviewed e4-1 1.000 220 0% 264 49.6% 0 - - - - - RRBP1 6238 genome.wustl.edu 37 20 17606198 17606198 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001042576.1 -1 reviewed p.E572K 0.567 136 0% 194 43.8% 364 36.2% benign(0.122) tolerated(0.44) neutral(0.022) NULL CSRP2BP 57325 genome.wustl.edu 37 20 18165371 18165371 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020536.4 +1 reviewed p.L704 1.000 331 0% 399 44.9% 11 54.5% - - - HMMPfam_Acetyltransf_1,superfamily_Acyl_CoA_acyltransferase DZANK1 55184 genome.wustl.edu 37 20 18374413 18374413 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001099407.1 -1 validated p.I584T 0.001 266 0% 287 40.8% 0 - benign(0.122) tolerated(0.68) neutral(0.012) NULL DZANK1 55184 genome.wustl.edu 37 20 18435901 18435901 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001099407.1 -1 validated p.S123Y 0.893 272 0% 341 46.3% 0 - benign(0.082) tolerated(1) neutral(0.006) NULL SLC24A3 57419 genome.wustl.edu 37 20 19665995 19665995 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020689.3 +1 validated p.F438 0.991 232 0% 278 41% 9 22.2% - - - NULL RIN2 54453 genome.wustl.edu 37 20 19972897 19972897 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018993.2 +1 reviewed p.I718 0.104 161 0% 266 15.4% 46 15.2% - - - HMMPfam_VPS9,HMMSmart_SM00167,superfamily_VPS9 domain (Pfam 02204) CRNKL1 51340 genome.wustl.edu 37 20 20033141 20033141 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016652.4 -1 reviewed p.A110V 0.018 46 0% 75 46.7% 0 - benign(0.021) - - NULL RALGAPA2 57186 genome.wustl.edu 37 20 20582482 20582482 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020343.2 -1 validated p.L683I 0.469 54 0% 80 46.3% 8 62.5% benign(0.002) tolerated(0.51) neutral(0.009) NULL GZF1 64412 genome.wustl.edu 37 20 23346166 23346166 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_022482.3 +1 validated p.C382 0.334 17 0% 15 53.3% 22 31.8% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers CSTL1 128817 genome.wustl.edu 37 20 23421092 23421092 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_138283.1 +1 reviewed p.R63Q 0.000 168 0% 228 12.7% 0 - benign(0.012) tolerated(0.23) neutral(0.042) HMMPfam_Cystatin,HMMSmart_CY,superfamily_SSF54403 ACSS1 84532 genome.wustl.edu 37 20 24993545 24993545 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032501.2 -1 reviewed p.R537Q 0.996 135 0% 144 45.1% 25 24% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like PYGB 5834 genome.wustl.edu 37 20 25255323 25255323 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002862.3 +1 reviewed p.E208D 1.000 39 0% 84 41.7% 134 49.2% benign(0) deleterious(0.04) neutral(0.349) HMMPfam_Phosphorylase,superfamily_SSF53756 PYGB 5834 genome.wustl.edu 37 20 25257951 25257951 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002862.3 +1 reviewed p.P282S 1.000 158 0% 167 46.7% 72 30.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Phosphorylase,superfamily_SSF53756 MYLK2 85366 genome.wustl.edu 37 20 30409383 30409383 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_033118.3 +1 reviewed p.K205N 1.000 107 0% 128 44.5% 0 - benign(0.15) tolerated(0.05) neutral(0.358) NULL DUSP15 128853 genome.wustl.edu 37 20 30454957 30454957 + Splice_Site SNP C C A rs55788530 TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_080611.3 -1 reviewed e3-1 1.000 199 0.5% 254 50.4% 0 - - - - - TTLL9 164395 genome.wustl.edu 37 20 30458964 30458964 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001008409.2 +1 provisional p.G12D 0.001 204 0% 256 16% 0 - probably_damaging(0.977) - - NULL KIF3B 9371 genome.wustl.edu 37 20 30898040 30898040 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004798.2 +1 reviewed p.D154Y 1.000 56 0% 75 10.7% 6 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases ASXL1 171023 genome.wustl.edu 37 20 31017157 31017157 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015338.5 +1 reviewed p.K163T 1.000 152 0% 197 43.1% 11 81.8% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL DNMT3B 1789 genome.wustl.edu 37 20 31383455 31383455 + Splice_Site SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006892.3 +1 reviewed e11-1 1.000 151 0% 174 40.8% 0 - - - - - EFCAB8 388795 genome.wustl.edu 37 20 31455519 31455519 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000440534 +1 known p.E58D 0.813 156 0.6% 224 45.5% 0 - possibly_damaging(0.736) tolerated(0.09) deleterious(0.566) superfamily_EF-hand SUN5 140732 genome.wustl.edu 37 20 31583513 31583513 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_080675.3 -1 validated p.R149Q 0.018 148 0% 179 43.6% 0 - possibly_damaging(0.819) deleterious(0.04) deleterious(0.658) NULL BPIFB4 149954 genome.wustl.edu 37 20 31692677 31692677 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_182519.2 +1 validated p.N581S 0.948 275 0% 338 43.5% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_LBP_BPI_CETP_C,HMMSmart_SM00329,superfamily_Bactericidal permeability-increasing protein BPI BPIFA1 51297 genome.wustl.edu 37 20 31828179 31828179 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016583.3 +1 reviewed p.S190Y 0.033 96 0% 142 12% 0 - possibly_damaging(0.513) deleterious(0.01) deleterious(0.578) HMMPfam_LBP_BPI_CETP,superfamily_Bactericidal permeability-increasing protein BPI PIGU 128869 genome.wustl.edu 37 20 33162944 33162944 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_080476.4 -1 reviewed p.F386L 1.000 189 0% 240 33.8% 121 43.8% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_PIG-U NCOA6 23054 genome.wustl.edu 37 20 33369981 33369981 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014071.2 -1 reviewed p.D60Y 1.000 122 0% 154 44.2% 8 25% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL GDF5 8200 genome.wustl.edu 37 20 34022009 34022009 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000557.2 -1 reviewed p.R402W 0.999 45 0% 58 44.8% 3 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TGF_beta,HMMSmart_TGFB,superfamily_SSF57501 C20orf152 140894 genome.wustl.edu 37 20 34575337 34575337 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_080834.1 +1 predicted p.S246* 0.000 131 0% 144 41% 1 0% - - - superfamily_cNMP_binding C20orf152 140894 genome.wustl.edu 37 20 34618394 34618394 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_080834.1 +1 predicted p.P515S 0.096 211 0% 214 39.3% 0 - benign(0.026) tolerated(0.08) neutral(0.301) NULL EPB41L1 2036 genome.wustl.edu 37 20 34797641 34797641 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_012156.2 +1 reviewed p.E634K 1.000 33 0% 52 44.2% 14 14.2% probably_damaging(0.999) tolerated(0.19) deleterious(0.540) NULL DLGAP4 22839 genome.wustl.edu 37 20 35060360 35060360 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014902.4 +1 reviewed p.F80 0.945 133 0% 170 38.2% 0 - - - - NULL RPN2 6185 genome.wustl.edu 37 20 35838528 35838528 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002951.3 +1 reviewed p.R316G 0.986 152 0% 169 37.9% 331 40.7% possibly_damaging(0.597) tolerated(0.6) neutral(0.211) HMMPfam_Ribophorin_II MANBAL 63905 genome.wustl.edu 37 20 35944749 35944749 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001003897.1 +1 validated p.T63 0.675 163 0% 198 44.4% 48 45.8% - - - HMMPfam_UPF0239 CTNNBL1 56259 genome.wustl.edu 37 20 36406090 36406090 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_030877.3 +1 reviewed p.I286 1.000 531 0% 617 47% 30 53.3% - - - superfamily_ARM repeat TTI1 9675 genome.wustl.edu 37 20 36640800 36640800 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014657.1 -1 predicted p.R473 1.000 57 0% 71 54.9% 7 71.4% - - - superfamily_ARM-type_fold TGM2 7052 genome.wustl.edu 37 20 36776424 36776424 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004613.2 -1 reviewed p.A207V 0.000 41 0% 56 55.4% 51 9.8% possibly_damaging(0.615) deleterious(0.01) deleterious(0.619) superfamily_Cysteine proteinases KIAA1755 85449 genome.wustl.edu 37 20 36870103 36870103 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001029864.1 -1 predicted p.L144I 0.647 147 0% 190 34.2% 0 - benign(0.032) tolerated(0.67) neutral(0.004) NULL SLC32A1 140679 genome.wustl.edu 37 20 37356207 37356207 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_080552.2 +1 reviewed p.A168V 1.000 31 0% 59 32.2% 0 - benign(0.01) tolerated(0.2) neutral(0.050) HMMPfam_Aa_trans SLC32A1 140679 genome.wustl.edu 37 20 37356601 37356601 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_080552.2 +1 reviewed p.F299L 1.000 32 0% 53 39.6% 2 100% benign(0.002) tolerated(0.17) neutral(0.059) HMMPfam_Aa_trans ACTR5 79913 genome.wustl.edu 37 20 37400443 37400443 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024855.3 +1 validated p.A603V 0.029 26 0% 29 34.5% 35 60% unknown(0) tolerated(0.2) - NULL TOP1 7150 genome.wustl.edu 37 20 39721205 39721205 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003286.2 +1 reviewed p.E236D 1.000 469 0% 600 46.8% 10 50% benign(0) tolerated(0.6) neutral(0.004) HMMPfam_Topoisom_I_N,superfamily_Eukaryotic DNA topoisomerase I N-terminal DNA-binding fragment TOP1 7150 genome.wustl.edu 37 20 39741481 39741481 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003286.2 +1 reviewed p.K456N 0.998 166 0% 192 42.7% 80 40% benign(0.015) tolerated(0.07) neutral(0.320) superfamily_DNA breaking-rejoining enzymes,HMMSmart_SM00435,HMMPfam_Topoisom_I PLCG1 5335 genome.wustl.edu 37 20 39802889 39802889 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002660.2 +1 reviewed p.P1257 0.098 47 2.1% 50 34% 54 50% - - - NULL CHD6 84181 genome.wustl.edu 37 20 40085988 40085988 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032221.3 -1 reviewed p.R915 0.994 156 0% 197 46.7% 21 38% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases CHD6 84181 genome.wustl.edu 37 20 40112045 40112045 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032221.3 -1 reviewed p.L791R 1.000 167 0% 216 42.1% 26 61.5% probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_P-loop containing nucleoside triphosphate hydrolases SRSF6 6431 genome.wustl.edu 37 20 42086703 42086703 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006275.5 +1 reviewed p.S10R 1.000 41 0% 56 44.6% 79 37.9% probably_damaging(0.995) deleterious(0.05) deleterious(0.803) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD IFT52 51098 genome.wustl.edu 37 20 42223366 42223366 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016004.2 +1 validated p.L10I 0.996 213 0% 225 13.3% 7 14.2% benign(0.002) tolerated(0.34) neutral(0.023) NULL TTPAL 79183 genome.wustl.edu 37 20 43108748 43108748 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001039199.1 +1 validated p.E37* 0.903 107 0.9% 147 15% 0 - - - - HMMPfam_CRAL_TRIO_N,superfamily_Sec14p_like_N PABPC1L 80336 genome.wustl.edu 37 20 43541323 43541323 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001124756.1 +1 provisional p.M72I 1.000 84 0% 122 32% 7 42.8% possibly_damaging(0.857) deleterious(0.01) deleterious(0.737) HMMPfam_RRM_1,HMMSmart_RRM,superfamily_SSF54928 KCNS1 3787 genome.wustl.edu 37 20 43723527 43723527 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002251.3 -1 reviewed p.H522R 0.000 130 0% 157 40.8% 0 - benign(0) tolerated(0.07) neutral(0.319) NULL SEMG2 6407 genome.wustl.edu 37 20 43851577 43851577 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003008.2 +1 reviewed p.S435Y 0.002 137 0% 159 45.9% 0 - probably_damaging(0.981) tolerated(0.15) deleterious(0.666) HMMPfam_Semenogelin RBPJL 11317 genome.wustl.edu 37 20 43942725 43942725 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014276.2 +1 reviewed p.R270C 1.000 28 0% 46 43.5% 0 - benign(0.034) tolerated(0.07) neutral(0.321) HMMPfam_Beta-trefoil,superfamily_Beta-trefoil SYS1 90196 genome.wustl.edu 37 20 43995677 43995677 + Silent SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_033542.2 +1 validated p.A131 0.995 117 0% 158 51.9% 77 36.3% - - - HMMPfam_SYS1 TP53TG5 27296 genome.wustl.edu 37 20 44004138 44004138 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014477.2 -1 validated p.I103 0.000 156 0.6% 238 45% 0 - - - - NULL WFDC3 140686 genome.wustl.edu 37 20 44404177 44404177 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_080614.1 -1 reviewed p.E186D 0.760 255 0% 332 44.9% 2 0% probably_damaging(0.979) tolerated(0.45) neutral(0.434) HMMPfam_WAP,HMMSmart_WAP,superfamily_WAP,PatternScan_4_DISULFIDE_CORE ZNF335 63925 genome.wustl.edu 37 20 44587995 44587995 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_022095.3 -1 reviewed p.R700* 1.000 31 0% 40 57.5% 39 35.8% - - - HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers MMP9 4318 genome.wustl.edu 37 20 44641109 44641109 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004994.2 +1 reviewed p.A406 0.229 60 0% 93 45.2% 2 50% - - - "HMMPfam_Peptidase_M10,HMMSmart_SM00235,superfamily_Metalloproteases (""zincins"") catalytic domain" ZNF840 100130863 genome.wustl.edu 37 20 45092916 45092916 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_001722110.1 +1 model p.L117I 0.999 72 0% 62 32.3% 0 - - - - NULL ZNF334 55713 genome.wustl.edu 37 20 45131589 45131589 + Missense_Mutation SNP C C A rs6011974 byCluster;byFrequency TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018102.3 -1 validated p.R130I 0.002 342 0% 434 44.7% 0 - possibly_damaging(0.861) tolerated(0.22) neutral(0.375) NULL EYA2 2139 genome.wustl.edu 37 20 45633621 45633621 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005244.4 +1 reviewed p.M66V 1.000 116 0% 167 18% 648 15.1% possibly_damaging(0.612) deleterious(0) deleterious(0.656) NULL ZMYND8 23613 genome.wustl.edu 37 20 45878145 45878145 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_183047.1 -1 reviewed p.E554K 1.000 159 1.3% 214 35% 36 44.4% probably_damaging(0.994) deleterious(0.05) deleterious(0.797) NULL ZMYND8 23613 genome.wustl.edu 37 20 45912344 45912344 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_183047.1 -1 reviewed p.K285E 1.000 273 0% 296 25.3% 32 37.5% probably_damaging(0.995) tolerated(0.06) deleterious(0.780) superfamily_Bromodomain NCOA3 8202 genome.wustl.edu 37 20 46262820 46262820 + Silent SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_181659.2 +1 reviewed p.P331 0.003 191 0% 225 40.9% 10 30% - - - superfamily_PYP-like sensor domain (PAS domain) ARFGEF2 10564 genome.wustl.edu 37 20 47645144 47645144 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006420.2 +1 reviewed p.R1668* 1.000 248 0% 276 42% 5 20% - - - NULL CSE1L 1434 genome.wustl.edu 37 20 47688950 47688950 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001316.2 +1 reviewed p.N299T 1.000 254 0% 345 46.4% 13 61.5% benign(0) tolerated(1) - HMMPfam_Cse1,superfamily_ARM repeat CSE1L 1434 genome.wustl.edu 37 20 47700588 47700588 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001316.2 +1 reviewed p.S503L 1.000 327 0% 438 44.7% 24 41.6% benign(0.003) tolerated(0.14) neutral(0.249) HMMPfam_Cse1,superfamily_ARM repeat DDX27 55661 genome.wustl.edu 37 20 47839533 47839533 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017895.7 +1 reviewed p.R125* 1.000 285 0% 348 42% 6 0% - - - NULL DDX27 55661 genome.wustl.edu 37 20 47846795 47846795 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017895.7 +1 reviewed p.A345T 1.000 76 0% 93 37.6% 57 8.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DEAD,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases ZNFX1 57169 genome.wustl.edu 37 20 47887209 47887209 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_021035.2 -1 validated p.F380 1.000 186 0% 186 46.2% 3 33.3% - - - NULL ADNP 23394 genome.wustl.edu 37 20 49509856 49509856 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015339.2 -1 reviewed p.F465 1.000 205 0.5% 269 45.4% 15 53.3% - - - HMMSmart_ZnF_C2H2 DPM1 8813 genome.wustl.edu 37 20 49551705 49551705 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003859.1 -1 reviewed p.F249L 1.000 210 0.5% 237 46% 8 37.5% probably_damaging(0.978) tolerated(0.06) deleterious(0.743) superfamily_Nucleotide-diphospho-sugar transferases DPM1 8813 genome.wustl.edu 37 20 49562280 49562280 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003859.1 -1 reviewed p.F131C 1.000 199 0% 243 16.5% 10 20% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Glycos_transf_2,superfamily_Nucleotide-diphospho-sugar transferases SALL4 57167 genome.wustl.edu 37 20 50406958 50406958 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020436.3 -1 reviewed p.I688 0.000 41 0% 56 44.6% 0 - - - - NULL SALL4 57167 genome.wustl.edu 37 20 50407086 50407086 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020436.3 -1 reviewed p.R646W 1.000 54 0% 81 43.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2 SALL4 57167 genome.wustl.edu 37 20 50408611 50408611 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020436.3 -1 reviewed p.G137 0.000 109 0% 101 45.5% 1 0% - - - NULL ZNF217 7764 genome.wustl.edu 37 20 52198390 52198390 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006526.2 -1 validated p.D326N 0.991 245 0% 283 12.7% 12 25% probably_damaging(0.991) deleterious(0.04) deleterious(0.793) NULL CASS4 57091 genome.wustl.edu 37 20 55027495 55027495 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020356.3 +1 validated p.S421 0.000 72 0% 128 51.6% 0 - - - - NULL GCNT7 140687 genome.wustl.edu 37 20 55070309 55070309 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000243913 -1 known p.R217* 1.000 229 0% 254 33.5% 0 - - - - NULL GCNT7 140687 genome.wustl.edu 37 20 55071912 55071912 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000243913 -1 known p.F129 0.000 185 0% 234 44.4% 1 0% - - - HMMPfam_Branch RAE1 8480 genome.wustl.edu 37 20 55940431 55940431 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001015885.1 +1 reviewed p.T103M 1.000 90 0% 112 42.9% 52 40.3% possibly_damaging(0.732) tolerated(0.18) neutral(0.324) HMMSmart_SM00320,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1,HMMPfam_WD40 CTCFL 140690 genome.wustl.edu 37 20 56090826 56090826 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_080618.2 -1 reviewed p.C375Y 1.000 201 0% 247 38.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ANKRD60 140731 genome.wustl.edu 37 20 56793575 56793575 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000371167 -1 known p.E334* 0.029 121 0% 176 51.7% 0 - benign(0.025) deleterious(0.01) neutral(0.407) NULL NPEPL1 79716 genome.wustl.edu 37 20 57276178 57276178 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024663.3 +1 validated p.I262 1.000 51 0% 73 42.5% 25 56% - - - HMMPfam_Peptidase_M17,superfamily_Zn-dependent exopeptidases NPEPL1 79716 genome.wustl.edu 37 20 57288656 57288656 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000371137 +1 known p.L394 0.001 15 0% 21 33.3% 2 0% - - - NULL ZNF831 128611 genome.wustl.edu 37 20 57768534 57768534 + Silent SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_178457.1 +1 provisional p.S820 0.023 64 0% 64 51.6% 0 - - - - NULL ZNF831 128611 genome.wustl.edu 37 20 57829144 57829144 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_178457.1 +1 provisional p.D1460E 0.000 87 0% 100 11% 0 - probably_damaging(0.996) deleterious(0.03) deleterious(0.826) NULL CDH26 60437 genome.wustl.edu 37 20 58547124 58547124 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_177980.2 +1 reviewed p.N113 0.011 353 0% 425 42.8% 0 - - - - HMMSmart_CA,superfamily_Cadherin LSM14B 149986 genome.wustl.edu 37 20 60705677 60705677 + Silent SNP C C T rs144046063 by1000genomes TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_144703.2 +1 validated p.F255 1.000 242 0% 291 37.5% 51 37.2% - - - HMMPfam_DFDF LAMA5 3911 genome.wustl.edu 37 20 60892829 60892829 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005560.3 -1 reviewed p.R2415 0.884 57 0% 63 41.3% 42 40.4% - - - HMMPfam_Laminin_I NTSR1 4923 genome.wustl.edu 37 20 61340837 61340837 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002531.2 +1 reviewed p.S93L 0.086 15 0% 28 35.7% 0 - probably_damaging(0.969) deleterious(0.01) deleterious(0.817) HMMPfam_7tm_1,superfamily_SSF81321 DIDO1 11083 genome.wustl.edu 37 20 61511641 61511641 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_033081.1 -1 reviewed p.F1889 0.860 13 0% 14 35.7% 2 50% - - - NULL DIDO1 11083 genome.wustl.edu 37 20 61513207 61513207 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_033081.1 -1 reviewed p.F1367 0.878 138 0% 157 42% 14 50% - - - NULL SLC17A9 63910 genome.wustl.edu 37 20 61588222 61588222 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_022082.3 +1 validated p.F55 0.994 36 0% 57 42.1% 13 53.8% - - - HMMPfam_MFS_1,superfamily_MFS general substrate transporter NKAIN4 128414 genome.wustl.edu 37 20 61878933 61878933 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152864.3 -1 validated p.I156 0.722 22 0% 34 55.9% 1 100% - - - HMMPfam_NKAIN COL20A1 57642 genome.wustl.edu 37 20 61936860 61936860 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020882.2 +1 validated p.I95 0.998 48 0% 52 44.2% 0 - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III KCNQ2 3785 genome.wustl.edu 37 20 62039859 62039859 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_172107.2 -1 reviewed p.A598 0.000 18 0% 35 48.6% 0 - - - - HMMPfam_KCNQ_channel EEF1A2 1917 genome.wustl.edu 37 20 62129188 62129188 + Splice_Site SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001958.2 -1 reviewed e1-1 0.008 19 0% 44 18.2% 0 - - - - - RTEL1 51750 genome.wustl.edu 37 20 62319327 62319327 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032957.3 +1 reviewed p.D507N 0.976 67 0% 61 49.2% 15 33.3% benign(0.004) tolerated(0.21) neutral(0.044) NULL PRPF6 24148 genome.wustl.edu 37 20 62642793 62642793 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_012469.3 +1 reviewed p.I487 0.385 42 0% 59 47.5% 531 42.5% - - - superfamily_SSF48452 PRPF6 24148 genome.wustl.edu 37 20 62654211 62654211 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_012469.3 +1 reviewed p.F583 0.795 84 0% 87 18.4% 364 15.6% - - - HMMSmart_HAT,superfamily_SSF48452 MYT1 4661 genome.wustl.edu 37 20 62830252 62830252 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004535.2 +1 reviewed p.R13Q 0.920 126 0% 150 47.3% 0 - probably_damaging(0.981) deleterious(0.02) deleterious(0.808) NULL MYT1 4661 genome.wustl.edu 37 20 62839410 62839410 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004535.2 +1 reviewed p.E287D 0.020 31 0% 35 31.4% 0 - benign(0.001) tolerated(0.57) neutral(0.006) NULL TPTE 7179 genome.wustl.edu 37 21 10941920 10941920 + Missense_Mutation SNP T T A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_199261.2 -1 validated p.R261S 1.000 371 0.3% 412 30.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_(Phosphotyrosine protein) phosphatases II LOC100288017 100288017 genome.wustl.edu 37 21 14568560 14568560 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_002343737.1 +1 model p.D65Y 0.014 11 0% 28 46.4% 0 - - - - NULL LOC100288017 100288017 genome.wustl.edu 37 21 14568591 14568591 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_002343737.1 +1 model p.T75M 0.030 9 0.000 21 0.381 0 - - - - NULL ENSG00000240615 0 genome.wustl.edu 37 21 15309912 15309912 + Splice_Site SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000400582 -1 novel NULL 0.055 16 0% 33 48.5% 0 - - - - - HSPA13 6782 genome.wustl.edu 37 21 15748027 15748027 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006948.4 -1 reviewed p.D232Y 1.000 157 0% 196 39.8% 8 37.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HSP70,PatternScan_HSP70_2,superfamily_Actin-like ATPase domain NRIP1 8204 genome.wustl.edu 37 21 16339046 16339046 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003489.3 -1 reviewed p.S490P 0.890 529 0% 599 41.7% 12 75% probably_damaging(0.959) tolerated(0.07) deleterious(0.722) NULL USP25 29761 genome.wustl.edu 37 21 17196404 17196404 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_013396.3 +1 validated p.R376K 1.000 358 0% 423 37.8% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_UCH,superfamily_Cysteine proteinases CXADR 1525 genome.wustl.edu 37 21 18933124 18933124 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001338.3 +1 reviewed p.R226C 0.004 484 0% 610 47.2% 40 32.5% possibly_damaging(0.455) tolerated(0.05) deleterious(0.494) HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin C21orf91 54149 genome.wustl.edu 37 21 19165892 19165892 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001100420.1 -1 validated p.F245C 1.000 131 0% 190 51.1% 18 44.4% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_EURL CHODL 140578 genome.wustl.edu 37 21 19628887 19628887 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024944.2 +1 reviewed p.E47D 0.969 73 0% 85 40% 2 0% benign(0) tolerated(1) - HMMSmart_SM00034,superfamily_C-type lectin-like NCAM2 4685 genome.wustl.edu 37 21 22370919 22370919 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004540.2 +1 reviewed p.L13R 1.000 331 0% 473 44.4% 0 - possibly_damaging(0.641) deleterious(0.02) deleterious(0.608) NULL NCAM2 4685 genome.wustl.edu 37 21 22710752 22710752 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004540.2 +1 reviewed p.E314D 1.000 103 0% 124 20.2% 0 - probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMSmart_IGc2,superfamily_SSF48726 NCAM2 4685 genome.wustl.edu 37 21 22746243 22746243 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004540.2 +1 reviewed p.D369Y 1.000 236 0% 300 39.7% 0 - possibly_damaging(0.719) tolerated(1) neutral(0.261) HMMSmart_IGc2,HMMPfam_ig,superfamily_SSF48726 NCAM2 4685 genome.wustl.edu 37 21 22790868 22790868 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004540.2 +1 reviewed p.E487* 1.000 194 0.5% 267 50.9% 0 - - - - superfamily_SSF48726 NCAM2 4685 genome.wustl.edu 37 21 22906908 22906908 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004540.2 +1 reviewed p.R778I 1.000 300 0% 402 43% 0 - benign(0.208) tolerated(0.12) neutral(0.281) NULL JAM2 58494 genome.wustl.edu 37 21 27078323 27078323 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_021219.2 +1 reviewed p.V244I 0.099 395 1% 572 40.7% 5 40% possibly_damaging(0.844) tolerated(0.05) deleterious(0.669) NULL ADAMTS5 11096 genome.wustl.edu 37 21 28307044 28307044 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_007038.3 -1 reviewed p.R477Q 0.717 103 0% 171 47.4% 1 0% benign(0.037) tolerated(0.65) neutral(0.005) NULL N6AMT1 29104 genome.wustl.edu 37 21 30248811 30248811 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_013240.3 -1 reviewed p.E181* 1.000 257 0% 311 43.4% 2 50% - - - HMMPfam_MTS,superfamily_S-adenosyl-L-methionine-dependent methyltransferases LTN1 26046 genome.wustl.edu 37 21 30339387 30339387 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015565.2 -1 validated p.D476Y 0.998 357 0% 396 42.2% 2 0% probably_damaging(0.999) tolerated(0.22) deleterious(0.532) superfamily_ARM repeat GRIK1 2897 genome.wustl.edu 37 21 30959775 30959775 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000830.3 -1 reviewed p.F568L 1.000 114 0% 178 37.1% 0 - probably_damaging(0.983) deleterious(0) deleterious(0.873) HMMSmart_SM00079,superfamily_Periplasmic binding protein-like II GRIK1 2897 genome.wustl.edu 37 21 31311717 31311717 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000830.3 -1 reviewed p.P34 1.000 103 0% 158 46.2% 0 - - - - superfamily_Periplasmic binding protein-like I KRTAP24-1 643803 genome.wustl.edu 37 21 31654771 31654771 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001085455.1 -1 validated p.K160N 0.054 173 0% 277 41.2% 0 - possibly_damaging(0.45) - - HMMPfam_PMG KRTAP13-2 337959 genome.wustl.edu 37 21 31744236 31744236 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_181621.3 -1 validated p.S99Y 0.017 156 0% 198 27.3% 0 - benign(0.011) deleterious(0.01) neutral(0.406) HMMPfam_PMG KRTAP11-1 337880 genome.wustl.edu 37 21 32253795 32253795 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_175858.2 -1 validated p.G17* 0.872 50 0% 73 56.2% 0 - - - - HMMPfam_PMG SCAF4 57466 genome.wustl.edu 37 21 33065741 33065741 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020706.2 -1 reviewed p.R460Q 1.000 105 0% 174 44.8% 13 53.8% unknown(0) deleterious(0.01) - NULL SCAF4 57466 genome.wustl.edu 37 21 33066602 33066602 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020706.2 -1 reviewed p.E413* 1.000 197 0% 216 39.8% 13 0% - - - NULL HUNK 30811 genome.wustl.edu 37 21 33371060 33371060 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014586.1 +1 validated p.H570Y 0.985 55 0% 65 50.8% 0 - benign(0.069) deleterious(0.02) neutral(0.388) NULL URB1 9875 genome.wustl.edu 37 21 33694188 33694188 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014825.2 -1 validated p.E1803K 0.978 70 0% 67 34.3% 68 39.7% possibly_damaging(0.455) tolerated(0.32) neutral(0.173) superfamily_ARM repeat URB1 9875 genome.wustl.edu 37 21 33697681 33697681 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014825.2 -1 validated p.R1660Q 0.913 165 0% 154 45.5% 15 33.3% possibly_damaging(0.482) tolerated(0.34) neutral(0.183) superfamily_ARM repeat URB1 9875 genome.wustl.edu 37 21 33705706 33705706 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014825.2 -1 validated p.K1627R 0.003 71 0% 117 41.9% 52 46.1% benign(0.002) tolerated(0.28) neutral(0.032) superfamily_ARM repeat URB1 9875 genome.wustl.edu 37 21 33755832 33755832 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014825.2 -1 validated p.A156T 0.996 46 0% 72 38.9% 23 60.8% probably_damaging(1) deleterious(0.05) deleterious(0.845) NULL C21orf63 59271 genome.wustl.edu 37 21 33876260 33876260 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_058187.3 +1 validated p.S295L 0.035 188 0% 267 49.1% 9 77.7% benign(0.357) deleterious(0.02) deleterious(0.496) NULL GCFC1 94104 genome.wustl.edu 37 21 34107338 34107338 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016631.3 -1 reviewed p.R893* 1.000 178 0% 293 50.5% 11 27.2% - - - NULL GCFC1 94104 genome.wustl.edu 37 21 34117904 34117904 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016631.3 -1 reviewed p.V683 1.000 252 0% 311 19.3% 23 8.6% - - - HMMPfam_GCFC GCFC1 94104 genome.wustl.edu 37 21 34131532 34131532 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016631.3 -1 reviewed p.E414D 1.000 363 0% 473 19.5% 2 0% benign(0.03) tolerated(0.13) neutral(0.254) HMMPfam_GCFC IL10RB 3588 genome.wustl.edu 37 21 34655474 34655474 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000628.3 +1 reviewed p.R192* 0.994 262 0% 386 17.6% 45 2.2% - - - HMMSmart_FN3,superfamily_FN_III-like DNAJC28 54943 genome.wustl.edu 37 21 34861116 34861116 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001040192.1 -1 validated p.K195N 1.000 350 0% 404 40.1% 3 33.3% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL SON 6651 genome.wustl.edu 37 21 34921988 34921988 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_138927.1 +1 reviewed p.E151* 1.000 90 0% 114 36.8% 4 0% - - - NULL SON 6651 genome.wustl.edu 37 21 34924577 34924577 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_138927.1 +1 reviewed p.E1014K 0.990 159 0% 208 42.3% 34 32.3% probably_damaging(0.994) deleterious(0) deleterious(0.897) NULL SON 6651 genome.wustl.edu 37 21 34927188 34927188 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_138927.1 +1 reviewed p.R1884I 1.000 82 0% 119 44.5% 23 34.7% unknown(0) deleterious(0) - NULL DONSON 29980 genome.wustl.edu 37 21 34954503 34954503 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000437395 -1 known p.R309K 0.702 466 0% 468 38.5% 5 100% - - - NULL ITSN1 6453 genome.wustl.edu 37 21 35190612 35190612 + Silent SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003024.2 +1 reviewed p.P923 0.146 229 0% 244 41.8% 6 50% - - - HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain ITSN1 6453 genome.wustl.edu 37 21 35254583 35254583 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003024.2 +1 reviewed p.P1460S 1.000 175 0% 234 29.9% 0 - probably_damaging(0.975) tolerated(0.09) deleterious(0.714) superfamily_PH domain-like RUNX1 861 genome.wustl.edu 37 21 36231773 36231773 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001754.4 -1 reviewed p.R204Q 1.000 376 0% 510 46.9% 14 35.7% probably_damaging(0.986) deleterious(0) deleterious(0.879) superfamily_p53-like transcription factors,HMMPfam_Runt RUNX1 861 genome.wustl.edu 37 21 36421162 36421162 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001754.4 -1 reviewed p.S12L 0.995 125 0% 138 43.5% 0 - benign(0) deleterious(0) neutral(0.445) NULL SETD4 54093 genome.wustl.edu 37 21 37431146 37431146 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017438.3 -1 validated p.R14Q 0.874 527 0% 633 40.8% 8 25% probably_damaging(0.962) tolerated(0.07) deleterious(0.724) NULL SIM2 6493 genome.wustl.edu 37 21 38095375 38095375 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005069.3 +1 reviewed p.R163* 0.998 148 0% 203 24.1% 6 0% - - - NULL ERG 2078 genome.wustl.edu 37 21 39762950 39762950 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001136154.1 -1 validated p.L303I 1.000 250 0% 301 43.9% 2 0% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL BRWD1 54014 genome.wustl.edu 37 21 40569206 40569206 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018963.3 -1 reviewed p.R1930I 0.998 76 0% 123 29.3% 9 55.5% possibly_damaging(0.906) deleterious(0) deleterious(0.804) superfamily_WD40 repeat-like B3GALT5 10317 genome.wustl.edu 37 21 41032838 41032838 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006057.1 +1 reviewed p.D118N 1.000 97 0% 145 42.1% 3 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Galactosyl_T DSCAM 1826 genome.wustl.edu 37 21 41741037 41741037 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001389.3 -1 validated p.L215R 1.000 111 0% 131 40.5% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00409,superfamily_Immunoglobulin MX2 4600 genome.wustl.edu 37 21 42752068 42752068 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002463.1 +1 reviewed p.E189D 0.037 38 0% 68 35.3% 2 0% possibly_damaging(0.944) tolerated(0.24) neutral(0.426) HMMPfam_Dynamin_N,HMMSmart_DYNc,superfamily_SSF52540 MX1 4599 genome.wustl.edu 37 21 42817999 42817999 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001144925.1 +1 reviewed p.R402W 0.435 174 1.1% 276 43.5% 5 40% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Dynamin_M TMPRSS2 7113 genome.wustl.edu 37 21 42839756 42839756 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005656.3 -1 reviewed p.D458N 1.000 189 0% 273 43.6% 38 39.4% probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases ZNF295 49854 genome.wustl.edu 37 21 43413484 43413484 + Silent SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001098402.1 -1 validated p.L241 0.006 99 0% 107 36.4% 2 50% - - - NULL ABCG1 9619 genome.wustl.edu 37 21 43708138 43708138 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000489035 +1 known p.L107I 1.000 116 0% 128 47.7% 131 54.1% - - - NULL ABCG1 9619 genome.wustl.edu 37 21 43710175 43710175 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004915.3 +1 reviewed p.R426C 1.000 75 0% 115 27.8% 195 20% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ABC2_membrane TMPRSS3 64699 genome.wustl.edu 37 21 43815480 43815480 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024022.2 -1 reviewed p.R16Q 0.958 171 0% 233 16.3% 18 22.2% possibly_damaging(0.786) deleterious(0) deleterious(0.739) NULL UBASH3A 53347 genome.wustl.edu 37 21 43846885 43846885 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018961.2 +1 validated p.L376I 0.000 168 0% 199 46.2% 0 - benign(0.001) tolerated(0.31) neutral(0.027) NULL SLC37A1 54020 genome.wustl.edu 37 21 43963651 43963651 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018964.3 +1 reviewed p.F223 0.948 130 0% 181 45.3% 58 41.3% - - - HMMPfam_MFS_1,superfamily_MFS general substrate transporter SLC37A1 54020 genome.wustl.edu 37 21 43982238 43982238 + Silent SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018964.3 +1 reviewed p.Y344 0.999 368 0% 544 41% 53 37.7% - - - HMMPfam_MFS_1,superfamily_MFS general substrate transporter PDE9A 5152 genome.wustl.edu 37 21 44108058 44108058 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002606.2 +1 reviewed p.D58N 1.000 58 0% 55 25.5% 76 25% benign(0.001) tolerated(0.14) neutral(0.249) NULL PKNOX1 5316 genome.wustl.edu 37 21 44433267 44433267 + Silent SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004571.3 +1 validated p.I147 1.000 149 0% 219 35.6% 8 37.5% - - - NULL PKNOX1 5316 genome.wustl.edu 37 21 44441437 44441437 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004571.3 +1 validated p.L249I 0.996 91 0% 101 29.7% 37 40.5% possibly_damaging(0.736) tolerated(0.33) neutral(0.293) NULL CRYAA 1409 genome.wustl.edu 37 21 44592189 44592189 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000394.2 +1 reviewed p.H107 0.981 29 0% 28 32.1% 0 - - - - HMMPfam_HSP20,superfamily_HSP20-like chaperones HSF2BP 11077 genome.wustl.edu 37 21 45053290 45053290 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_007031.1 -1 reviewed p.L102I 0.997 127 0% 161 37.9% 0 - probably_damaging(0.973) tolerated(0.08) deleterious(0.715) NULL AGPAT3 56894 genome.wustl.edu 37 21 45391340 45391340 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001037553.1 +1 reviewed p.G246R 0.999 135 0% 173 38.2% 25 24% probably_damaging(1) tolerated(0.07) deleterious(0.819) NULL PWP2 5822 genome.wustl.edu 37 21 45545905 45545905 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005049.2 +1 validated p.R660Q 1.000 127 0% 112 23.2% 32 37.5% probably_damaging(0.999) tolerated(0.07) deleterious(0.809) superfamily_WD40_like AIRE 326 genome.wustl.edu 37 21 45712895 45712895 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000383.2 +1 reviewed p.S372L 0.001 42 0% 44 56.8% 0 - benign(0.101) deleterious(0.01) neutral(0.413) NULL KRTAP10-4 386672 genome.wustl.edu 37 21 45993932 45993932 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_198687.1 +1 reviewed p.C99 0.973 152 0% 198 20.7% 0 - - - - NULL KRTAP10-7 386675 genome.wustl.edu 37 21 46021022 46021022 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000380102 +1 known p.K167 0.005 219 0% 322 26.1% 1 0% - - - NULL KRTAP10-10 353333 genome.wustl.edu 37 21 46057819 46057819 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_181688.1 +1 provisional p.S162F 0.055 147 0% 246 39.4% 0 - possibly_damaging(0.768) deleterious(0.03) deleterious(0.649) NULL KRTAP10-11 386678 genome.wustl.edu 37 21 46067269 46067269 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_198692.2 +1 validated p.C298* 0.995 79 0% 118 44.1% 0 - - - - NULL POFUT2 23275 genome.wustl.edu 37 21 46705593 46705593 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_133635.4 -1 validated p.E128K 1.000 76 0% 79 53.2% 12 41.6% probably_damaging(0.998) tolerated(0.11) deleterious(0.746) HMMPfam_O-FucT LINC00315 246704 genome.wustl.edu 37 21 46723206 46723206 + RNA SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XR_041771.1 -1 model NULL 0.000 43 0% 86 29.1% 0 - - - - - COL18A1 80781 genome.wustl.edu 37 21 46913116 46913116 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_130444.2 +1 reviewed p.E1167K 0.026 29 0% 28 42.9% 155 48.3% possibly_damaging(0.606) tolerated(0.29) neutral(0.239) HMMPfam_Collagen PCBP3 54039 genome.wustl.edu 37 21 47329362 47329362 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020528.2 +1 reviewed p.I145V 1.000 40 0% 65 40% 2 0% probably_damaging(0.969) deleterious(0) deleterious(0.856) HMMSmart_SM00322,HMMPfam_KH_1,superfamily_Eukaryotic type KH-domain (KH-domain type I) COL6A2 1292 genome.wustl.edu 37 21 47549147 47549147 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_058174.2 +1 reviewed p.F833L 1.000 14 0% 27 44.4% 56 0% possibly_damaging(0.767) - - NULL FTCD 10841 genome.wustl.edu 37 21 47571627 47571627 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006657.2 -1 reviewed p.D161N 1.000 41 0% 44 47.7% 0 - probably_damaging(0.992) deleterious(0) deleterious(0.892) superfamily_Formiminotransferase domain of formiminotransferase-cyclodeaminase.,HMMPfam_FTCD_N MCM3AP 8888 genome.wustl.edu 37 21 47678897 47678897 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003906.3 -1 reviewed p.K1230N 0.751 61 0% 75 46.7% 20 70% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL PCNT 5116 genome.wustl.edu 37 21 47773947 47773947 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006031.5 +1 reviewed p.D576Y 0.397 261 0% 341 43.1% 2 50% possibly_damaging(0.578) deleterious(0) deleterious(0.643) NULL DIP2A 23181 genome.wustl.edu 37 21 47957421 47957421 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015151.3 +1 reviewed p.L590 0.998 82 0% 79 13.9% 35 31.4% - - - superfamily_Acetyl-CoA synthetase-like DIP2A 23181 genome.wustl.edu 37 21 47987490 47987490 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015151.3 +1 reviewed p.F1557 1.000 55 0% 111 15.3% 38 13.1% - - - superfamily_Acetyl-CoA synthetase-like OR11H1 81061 genome.wustl.edu 37 22 16448908 16448908 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001005239.1 -1 provisional p.L299 0.991 396 0.3% 526 27.2% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 CECR2 27443 genome.wustl.edu 37 22 17983882 17983882 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000400573 +1 known p.S213Y 0.952 109 0% 149 36.2% 0 - possibly_damaging(0.46) deleterious(0) deleterious(0.596) NULL MICAL3 57553 genome.wustl.edu 37 22 18347630 18347630 + Silent SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001136004.1 -1 provisional p.R1004 0.994 34 0% 41 34.1% 3 66.6% - - - NULL TUBA8 51807 genome.wustl.edu 37 22 18613739 18613739 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018943.1 +1 provisional p.D396N 1.000 134 0% 132 21.2% 2 50% possibly_damaging(0.95) deleterious(0) deleterious(0.838) superfamily_Tubulin C-terminal domain-like SLC25A1 6576 genome.wustl.edu 37 22 19164667 19164667 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005984.2 -1 validated p.F164L 1.000 123 0% 149 36.2% 401 42.3% benign(0.135) tolerated(0.52) neutral(0.020) superfamily_Mitoch_carrier,HMMPfam_Mito_carr CLTCL1 8218 genome.wustl.edu 37 22 19188972 19188972 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_007098.3 -1 reviewed p.Y1211 0.998 55 0% 68 39.7% 6 50% - - - HMMPfam_Clathrin,HMMSmart_SM00299,superfamily_ARM repeat C22orf29 79680 genome.wustl.edu 37 22 19839610 19839610 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024627.5 -1 validated p.R59* 0.000 32 0% 45 48.9% 26 38.4% - - - NULL MED15 51586 genome.wustl.edu 37 22 20921089 20921089 + Silent SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001003891.1 +1 reviewed p.Q342 0.011 150 0% 218 52.8% 80 47.5% - - - NULL FAM108A5P 729495 genome.wustl.edu 37 22 21022358 21022358 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_002343784.1 -1 model p.K320N 1.000 37 0% 56 26.8% 30 0% - - - superfamily_alpha/beta-Hydrolases SERPIND1 3053 genome.wustl.edu 37 22 21138370 21138370 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000185.3 +1 reviewed p.A334T 1.000 109 0.9% 130 27.7% 0 - probably_damaging(0.984) tolerated(0.21) deleterious(0.474) HMMPfam_Serpin,HMMSmart_SM00093,superfamily_Serpins PI4KA 5297 genome.wustl.edu 37 22 21174038 21174038 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_058004.2 -1 reviewed p.R169Q 0.997 128 0.8% 218 45.4% 18 33.3% benign(0.012) tolerated(0.26) neutral(0.035) NULL PI4KA 5297 genome.wustl.edu 37 22 21174829 21174829 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_058004.2 -1 reviewed p.K118T 1.000 272 0.4% 335 38.8% 13 38.4% benign(0.018) tolerated(0.29) neutral(0.030) NULL AIFM3 150209 genome.wustl.edu 37 22 21332253 21332253 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_144704.2 +1 validated p.R479H 1.000 109 0% 168 30.4% 0 - benign(0.017) tolerated(0.13) neutral(0.253) superfamily_FAD/NAD(P)-binding domain MIR649 693234 genome.wustl.edu 37 22 21388533 21388533 + RNA SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000384843 -1 known NULL 0.006 206 0% 246 48.4% 0 - - - - - UBE2L3 7332 genome.wustl.edu 37 22 21922043 21922043 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003347.2 +1 reviewed p.S4G 1.000 25 0% 38 39.5% 59 44% benign(0.013) - - superfamily_UBC-like UBE2L3 7332 genome.wustl.edu 37 22 21975917 21975917 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003347.2 +1 reviewed p.E142* 1.000 86 0% 102 37.3% 17 47% - - - HMMPfam_UQ_con,HMMSmart_SM00212,superfamily_UBC-like PPM1F 9647 genome.wustl.edu 37 22 22287813 22287813 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014634.2 -1 reviewed p.E233* 0.000 59 0% 50 46% 11 9% - - - HMMSmart_PP2C_SIG,HMMSmart_PP2Cc,superfamily_PP2C-related,HMMPfam_PP2C IGLV3-22 28795 genome.wustl.edu 37 22 23047257 23047257 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000390307 +1 known p.E99K 0.761 42 0% 73 43.8% 0 - benign(0.024) deleterious(0.04) neutral(0.350) HMMSmart_SM00406,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin ENSG00000207833 0 genome.wustl.edu 37 22 23135007 23135007 + RNA SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000385098 +1 novel NULL 0.001 35 0% 33 36.4% 0 - - - - - IGLV3-10 28803 genome.wustl.edu 37 22 23154671 23154671 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000390315 +1 known p.F80L 0.922 124 0% 127 42.5% 0 - benign(0.402) deleterious(0.01) deleterious(0.534) HMMSmart_SM00406,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin MIR650 723778 genome.wustl.edu 37 22 23165303 23165303 + RNA SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000385101 +1 known NULL 0.001 41 0% 34 47.1% 1 0% - - - - IGLV4-3 28786 genome.wustl.edu 37 22 23214014 23214014 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000390318 +1 known p.Q57H 0.601 45 0% 59 47.5% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00406,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin RTDR1 27156 genome.wustl.edu 37 22 23406298 23406298 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014433.2 -1 reviewed p.I145 0.119 64 0% 74 41.9% 0 - - - - superfamily_ARM-type_fold SLC2A11 66035 genome.wustl.edu 37 22 24226177 24226177 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000424247 +1 known p.S114Y 0.997 75 0% 83 21.7% 19 5.2% - - - HMMPfam_Sugar_tr GSTT2 2953 genome.wustl.edu 37 22 24324928 24324928 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000854.3 +1 validated p.D104N 0.629 137 0% 182 44.5% 7 42.8% possibly_damaging(0.577) deleterious(0.04) deleterious(0.547) superfamily_Glutathione S-transferase (GST) C-terminal domain SNRPD3 6634 genome.wustl.edu 37 22 24967898 24967898 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004175.3 +1 reviewed p.R112G 1.000 208 0% 302 46.7% 193 57.5% possibly_damaging(0.503) tolerated(0.24) neutral(0.206) superfamily_Sm-like ribonucleoproteins GGT1 2678 genome.wustl.edu 37 22 25007054 25007054 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001032364.2 +1 reviewed p.K2N 1.000 48 0% 71 31% 10 70% unknown(0) deleterious(0.02) - NULL GGT1 2678 genome.wustl.edu 37 22 25019101 25019101 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001032364.2 +1 reviewed p.N254T 1.000 31 0% 41 41.5% 58 32.7% benign(0.003) tolerated(0.32) neutral(0.024) HMMPfam_G_glu_transpept SGSM1 129049 genome.wustl.edu 37 22 25313695 25313695 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001039948.2 +1 validated p.R1055H 1.000 245 0% 287 41.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TBC,HMMSmart_SM00164,superfamily_Ypt/Rab-GAP domain of gyp1p MYO18B 84700 genome.wustl.edu 37 22 26306982 26306982 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032608.5 +1 reviewed p.D1777N 1.000 155 0% 215 47.9% 0 - probably_damaging(1) tolerated(0.13) deleterious(0.752) NULL HPS4 89781 genome.wustl.edu 37 22 26860650 26860650 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_022081.4 -1 reviewed p.E316K 0.000 91 0% 111 42.3% 34 55.8% benign(0.073) tolerated(0.8) neutral(0.005) NULL SRRD 402055 genome.wustl.edu 37 22 26880025 26880025 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001013694.2 +1 validated p.S57P 0.494 12 0.000 8 0.875 2 50% benign(0.005) tolerated(0.15) neutral(0.241) NULL TFIP11 24144 genome.wustl.edu 37 22 26888021 26888021 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001008697.1 -1 validated p.W824* 1.000 70 0% 98 18.4% 141 22.6% - - - NULL TFIP11 24144 genome.wustl.edu 37 22 26902798 26902798 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001008697.1 -1 validated p.E102D 1.000 211 0% 265 49.1% 12 66.6% benign(0) tolerated(0.4) neutral(0.016) NULL TPST2 8459 genome.wustl.edu 37 22 26928691 26928691 + Silent SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001008566.1 -1 reviewed p.K354 1.000 304 0% 309 42.1% 34 50% - - - NULL TTC28 23331 genome.wustl.edu 37 22 28504084 28504084 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001145418.1 -1 validated p.I583 0.652 73 0% 72 44.4% 15 26.6% - - - HMMPfam_TPR_1,HMMSmart_TPR,superfamily_SSF48452 CHEK2 11200 genome.wustl.edu 37 22 29106004 29106004 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001005735.1 -1 reviewed p.K322T 0.997 202 0% 217 15.7% 1 0% possibly_damaging(0.724) tolerated(0.22) neutral(0.305) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase ZNRF3 84133 genome.wustl.edu 37 22 29445469 29445469 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032173.2 +1 validated p.G334S 0.968 26 0% 34 35.3% 12 33.3% benign(0.048) tolerated(0.94) neutral(0.003) NULL RFPL1 5988 genome.wustl.edu 37 22 29837872 29837872 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_021026.2 +1 validated p.D239Y 0.000 278 0% 381 42% 0 - possibly_damaging(0.887) deleterious(0.05) deleterious(0.692) HMMPfam_SPRY,HMMSmart_SPRY THOC5 8563 genome.wustl.edu 37 22 29945094 29945094 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001002877.1 -1 validated p.R15* 1.000 326 0% 486 42% 12 33.3% - - - NULL MTMR3 8897 genome.wustl.edu 37 22 30403266 30403266 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_021090.3 +1 reviewed p.R279* 0.993 39 0% 70 41.4% 18 22.2% - - - HMMPfam_Myotub-related,superfamily_(Phosphotyrosine protein) phosphatases II LIF 3976 genome.wustl.edu 37 22 30639648 30639648 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002309.3 -1 reviewed p.A201T 1.000 104 0% 144 42.4% 1 100% probably_damaging(0.957) deleterious(0) deleterious(0.845) HMMPfam_LIF_OSM,superfamily_4-helical cytokines PES1 23481 genome.wustl.edu 37 22 30980688 30980688 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014303.2 -1 reviewed p.D129N 1.000 33 0% 54 61.1% 290 43.4% benign(0.135) deleterious(0) neutral(0.456) HMMPfam_Pescadillo_N MORC2 22880 genome.wustl.edu 37 22 31333006 31333006 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014941.1 -1 provisional p.R444I 1.000 68 0% 86 40.7% 35 65.7% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_zf-CW MORC2 22880 genome.wustl.edu 37 22 31335642 31335642 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014941.1 -1 provisional p.D285N 0.998 77 0% 108 47.2% 41 51.2% benign(0.389) deleterious(0.03) deleterious(0.489) NULL SMTN 6525 genome.wustl.edu 37 22 31491571 31491571 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_134270.1 +1 reviewed p.R613C 0.997 71 0% 93 39.8% 54 25.9% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PATZ1 23598 genome.wustl.edu 37 22 31724799 31724799 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014323.2 -1 reviewed p.H540R 1.000 68 0% 112 44.6% 11 0% possibly_damaging(0.55) tolerated(0.42) neutral(0.201) NULL EIF4ENIF1 56478 genome.wustl.edu 37 22 31859673 31859673 + Silent SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_019843.3 -1 reviewed p.R193 0.993 50 0% 85 50.6% 6 83.3% - - - HMMPfam_EIF4E-T SFI1 9814 genome.wustl.edu 37 22 31998724 31998724 + Nonsense_Mutation SNP G G T rs4339045 TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000452250 +1 known p.E293* 0.009 56 0% 73 45.2% 9 55.5% benign(0.129) tolerated(0.15) neutral(0.252) NULL ENSG00000251232 0 genome.wustl.edu 37 22 32108164 32108164 + Silent SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000422296 -1 known p.F19S 0.998 125 0% 133 30.8% 13 23% - - - NULL PRR14L 253143 genome.wustl.edu 37 22 32111241 32111241 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_173566.2 -1 validated p.E862* 0.018 329 0% 437 38.2% 6 33.3% - - - NULL SLC5A1 6523 genome.wustl.edu 37 22 32506119 32506119 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000343.3 +1 reviewed p.K638N 0.995 349 0% 455 45.1% 4 25% benign(0.001) tolerated(0.64) neutral(0.003) NULL RFPL3 10738 genome.wustl.edu 37 22 32756598 32756598 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001098535.1 +1 validated p.V245L 0.298 282 0.7% 372 48.9% 0 - benign(0.062) deleterious(0.01) neutral(0.410) HMMPfam_SPRY,HMMSmart_SPRY C22orf28 51493 genome.wustl.edu 37 22 32788330 32788330 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014306.4 -1 validated p.R436Q 1.000 150 0% 198 45.5% 203 52.2% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_UPF0027,superfamily_Hypothetical protein PH1602 BPIFC 254240 genome.wustl.edu 37 22 32849444 32849444 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_174932.2 -1 validated p.K57N 0.000 369 0% 343 45.8% 0 - benign(0.002) tolerated(0.29) neutral(0.029) HMMPfam_LBP_BPI_CETP,HMMSmart_BPI1,superfamily_Bactericidal_perm-incr_a/b_dom,PatternScan_LBP_BPI_CETP FBXO7 25793 genome.wustl.edu 37 22 32894169 32894169 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_012179.3 +1 reviewed p.P407 0.940 117 0% 190 50% 104 32.6% - - - superfamily_SSF81383 HMGXB4 10042 genome.wustl.edu 37 22 35681992 35681992 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001003681.2 +1 validated p.F434V 1.000 275 0% 371 45% 6 33.3% probably_damaging(0.99) deleterious(0.01) deleterious(0.847) HMMPfam_HMG_box,HMMSmart_HMG,superfamily_HMG-box MCM5 4174 genome.wustl.edu 37 22 35806853 35806853 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006739.3 +1 reviewed p.R290Q 1.000 106 0% 126 41.3% 63 36.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00350,superfamily_Nucleic acid-binding proteins MCM5 4174 genome.wustl.edu 37 22 35813826 35813826 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006739.3 +1 reviewed p.K560N 1.000 66 0% 71 43.7% 289 35.9% possibly_damaging(0.939) deleterious(0) deleterious(0.829) HMMPfam_MCM,HMMSmart_SM00350,superfamily_P-loop containing nucleoside triphosphate hydrolases RBFOX2 23543 genome.wustl.edu 37 22 36164375 36164375 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001082578.1 -1 reviewed p.E229K 1.000 147 0% 214 43.9% 50 36% possibly_damaging(0.95) tolerated(0.07) deleterious(0.713) HMMPfam_RRM_1,HMMSmart_RRM,superfamily_SSF54928 CSF2RB 1439 genome.wustl.edu 37 22 37331696 37331696 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000395.2 +1 reviewed p.K477N 0.205 53 0% 76 50% 1 0% benign(0.018) deleterious(0.02) neutral(0.384) NULL RAC2 5880 genome.wustl.edu 37 22 37637682 37637682 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002872.3 -1 reviewed p.C18R 1.000 240 0% 305 44.6% 76 22.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_RHO,HMMPfam_Ras,superfamily_SSF52540 TRIOBP 11078 genome.wustl.edu 37 22 38120439 38120439 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001039141.2 +1 reviewed p.T626A 0.009 646 0% 675 43.7% 0 - possibly_damaging(0.945) tolerated(0.45) neutral(0.402) NULL TRIOBP 11078 genome.wustl.edu 37 22 38151657 38151657 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001039141.2 +1 reviewed p.D1893G 1.000 47 0% 70 32.9% 117 40.1% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ENSG00000235456 0 genome.wustl.edu 37 22 38202151 38202151 + RNA SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000455466 -1 known NULL 0.000 70 0% 108 17.6% 89 26.9% - - - - DMC1 11144 genome.wustl.edu 37 22 38958363 38958363 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_007068.2 -1 reviewed p.F85L 1.000 235 0% 270 20.7% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Rad51,superfamily_SSF52540 ENSG00000184949 0 genome.wustl.edu 37 22 39024935 39024935 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000355830 -1 known p.F169L 0.684 118 0% 116 42.2% 0 - possibly_damaging(0.649) deleterious(0.03) deleterious(0.593) NULL SUN2 25777 genome.wustl.edu 37 22 39137514 39137514 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015374.1 -1 validated p.I377 0.445 132 0% 164 47.6% 50 48% - - - NULL APOBEC3A 200315 genome.wustl.edu 37 22 39357418 39357418 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_145699.3 +1 validated p.Y67 0.000 193 0.5% 238 13% 2 0% - - - HMMPfam_APOBEC_N APOBEC3A 200315 genome.wustl.edu 37 22 39357476 39357476 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_145699.3 +1 validated p.A87T 0.000 228 0% 295 32.5% 3 0% possibly_damaging(0.659) tolerated(0.06) deleterious(0.555) HMMPfam_APOBEC_N,PatternScan_CYT_DCMP_DEAMINASES,superfamily_Cytidine_deaminase-like CBX7 23492 genome.wustl.edu 37 22 39534672 39534672 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_175709.3 -1 validated p.R72I 1.000 189 0.5% 251 47% 2 50% possibly_damaging(0.929) deleterious(0) deleterious(0.821) NULL MKL1 57591 genome.wustl.edu 37 22 40817050 40817050 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020831.3 -1 validated p.E228K 1.000 202 0% 291 43.6% 64 43.7% probably_damaging(0.998) deleterious(0.02) deleterious(0.857) NULL MCHR1 2847 genome.wustl.edu 37 22 41075470 41075470 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005297.3 +1 reviewed p.K7N 1.000 33 0% 52 44.2% 1 100% unknown(0) deleterious(0) - NULL EP300 2033 genome.wustl.edu 37 22 41574665 41574665 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001429.3 +1 reviewed p.R2317L 1.000 146 0% 168 36.3% 170 43.5% unknown(0) tolerated(0.08) - NULL NDUFA6 4700 genome.wustl.edu 37 22 42482275 42482275 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002490.3 -1 validated p.R126Q 1.000 315 0% 387 38% 272 45.5% probably_damaging(0.955) tolerated(0.47) neutral(0.410) NULL LOC100289204 100289204 genome.wustl.edu 37 22 42537189 42537189 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_002343781.1 +1 model p.D160N 0.000 32 0% 32 71.9% 8 12.5% - - - NULL ATP5L2 267020 genome.wustl.edu 37 22 43036026 43036026 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000505920 -1 known p.T85 1.000 296 0% 427 44.7% 0 - - - - HMMPfam_ATP-synt_G TTLL1 25809 genome.wustl.edu 37 22 43447829 43447829 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_012263.4 -1 validated p.K319T 1.000 171 0% 212 11.3% 98 5.1% benign(0) tolerated(0.53) neutral(0.007) HMMPfam_TTL,superfamily_Glutathione synthetase ATP-binding domain-like MPPED1 758 genome.wustl.edu 37 22 43894197 43894197 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001044370.1 +1 validated p.V239I 0.980 34 0% 44 47.7% 0 - benign(0.002) tolerated(0.51) neutral(0.009) HMMPfam_Metallophos,superfamily_Metallo-dependent phosphatases EFCAB6 64800 genome.wustl.edu 37 22 43972244 43972244 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_022785.2 -1 validated p.R1118I 0.001 120 0% 126 42.1% 0 - possibly_damaging(0.861) deleterious(0.05) deleterious(0.678) superfamily_EF-hand EFCAB6 64800 genome.wustl.edu 37 22 44004441 44004441 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_022785.2 -1 validated p.R868* 0.387 177 0% 309 44% 0 - - - - superfamily_EF-hand PARVG 64098 genome.wustl.edu 37 22 44583730 44583730 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001137605.1 +1 validated p.F73 0.999 167 0% 223 38.1% 133 28.5% - - - HMMPfam_CH,superfamily_Calponin-homology domain CH-domain SMC1B 27127 genome.wustl.edu 37 22 45795181 45795181 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_148674.3 -1 validated p.E303* 1.000 579 0% 704 44.2% 0 - - - - HMMPfam_SMC_N,superfamily_SSF52540 PKDREJ 10343 genome.wustl.edu 37 22 46652917 46652917 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006071.1 -1 reviewed p.F2101 0.000 97 0% 98 41.8% 0 - - - - HMMPfam_PKD_channel TTC38 55020 genome.wustl.edu 37 22 46677541 46677541 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017931.2 +1 validated p.A221T 0.998 139 0% 190 41.1% 42 52.3% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) superfamily_SSF48452 CELSR1 9620 genome.wustl.edu 37 22 46931448 46931448 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014246.1 -1 reviewed p.G540 0.996 60 0% 42 50% 18 44.4% - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like TBC1D22A 25771 genome.wustl.edu 37 22 47287249 47287249 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014346.1 +1 provisional p.D266N 0.973 170 0% 213 38% 17 41.1% benign(0.005) tolerated(0.08) neutral(0.300) HMMPfam_TBC,HMMSmart_SM00164,superfamily_Ypt/Rab-GAP domain of gyp1p TBC1D22A 25771 genome.wustl.edu 37 22 47432996 47432996 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014346.1 +1 provisional p.E411K 1.000 80 0% 55 34.5% 55 25.4% possibly_damaging(0.656) tolerated(0.13) deleterious(0.484) HMMPfam_TBC,HMMSmart_SM00164,superfamily_Ypt/Rab-GAP domain of gyp1p BRD1 23774 genome.wustl.edu 37 22 50170765 50170765 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014577.1 -1 reviewed p.R882Q 1.000 21 0% 36 50% 59 45.7% unknown(0) deleterious(0.01) - NULL BRD1 23774 genome.wustl.edu 37 22 50191612 50191612 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014577.1 -1 reviewed p.V647M 0.997 152 0.7% 214 16.8% 23 13% possibly_damaging(0.952) tolerated(0.14) deleterious(0.645) HMMPfam_Bromodomain,HMMSmart_BROMO,superfamily_Bromodomain TUBGCP6 85378 genome.wustl.edu 37 22 50659379 50659379 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020461.3 -1 reviewed p.V1137M 0.994 42 0% 84 48.8% 149 44.9% possibly_damaging(0.555) deleterious(0) deleterious(0.634) HMMPfam_Spc97_Spc98 TUBGCP6 85378 genome.wustl.edu 37 22 50659431 50659431 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020461.3 -1 reviewed p.E1119D 0.988 53 0% 99 18.2% 129 16.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Spc97_Spc98 TUBGCP6 85378 genome.wustl.edu 37 22 50662600 50662600 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020461.3 -1 reviewed p.S747F 1.000 44 0% 72 48.6% 44 47.7% possibly_damaging(0.932) deleterious(0) deleterious(0.823) HMMPfam_Spc97_Spc98 TUBGCP6 85378 genome.wustl.edu 37 22 50682381 50682381 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020461.3 -1 reviewed p.L170V 0.001 110 0% 125 44.8% 42 54.7% possibly_damaging(0.945) tolerated(0.05) deleterious(0.735) NULL PLXNB2 23654 genome.wustl.edu 37 22 50727442 50727442 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_012401.2 -1 validated p.E400K 1.000 29 0% 32 34.4% 345 46.6% probably_damaging(0.995) tolerated(0.12) deleterious(0.718) HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema FAM116B 414918 genome.wustl.edu 37 22 50754669 50754669 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000433760 -1 known p.S212L 0.950 22 0% 27 51.9% 8 37.5% - - - HMMPfam_DUF1630 MIOX 55586 genome.wustl.edu 37 22 50926471 50926471 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017584.5 +1 validated p.D112Y 0.999 35 0% 54 40.7% 1 100% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_DUF706 LMF2 91289 genome.wustl.edu 37 22 50941845 50941845 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_033200.2 -1 validated p.S675L 0.005 6 0.000 13 0.615 44 52.2% benign(0.013) deleterious(0.04) neutral(0.349) NULL LMF2 91289 genome.wustl.edu 37 22 50944590 50944590 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000487499 -1 known p.R223C 0.619 11 0% 21 42.9% 139 35.2% - - - HMMPfam_DUF1222 TYMP 1890 genome.wustl.edu 37 22 50967873 50967873 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000426603 -1 known p.R89I 0.000 16 0% 23 65.2% 2 0% - - - NULL SHANK3 85358 genome.wustl.edu 37 22 51117290 51117290 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001080420.1 +1 reviewed p.R181H 0.033 35 0% 49 36.7% 11 9% probably_damaging(0.978) deleterious(0.01) deleterious(0.826) HMMPfam_Ank,superfamily_Ankyrin repeat SHANK3 85358 genome.wustl.edu 37 22 51160275 51160275 + Silent SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001080420.1 +1 reviewed p.S1354 1.000 5 0.000 15 0.533 7 57.1% - - - NULL ENSG00000198888 0 genome.wustl.edu 37 MT 3732 3732 + Silent SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000361390 +1 known p.Y142 NULL 6 0.000 4 0.750 7983 93.8% - - - HMMPfam_NADHdh CRLF2 64109 genome.wustl.edu 37 X 1317423 1317423 + Silent SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000381567 -1 known p.I214 0.000 479 0% 600 16.7% 0 - - - - NULL CRLF2 64109 genome.wustl.edu 37 X 1317570 1317570 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000381567 -1 known p.E165D 0.000 261 0% 329 44.1% 0 - benign(0.152) tolerated(0.57) neutral(0.019) superfamily_Fibronectin type III CSF2RA 1438 genome.wustl.edu 37 X 1401670 1401670 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006140.4 +1 reviewed p.S25L 0.000 397 0% 500 47.8% 2 0% benign(0.006) tolerated(0.12) neutral(0.261) NULL ENSG00000223274 0 genome.wustl.edu 37 X 1419221 1419221 + RNA SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000411342 -1 novel NULL 0.081 31 0% 34 32.4% 0 - - - - - IL3RA 3563 genome.wustl.edu 37 X 1464294 1464294 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002183.2 +1 reviewed p.I50 0.000 535 0.2% 661 41% 6 16.6% - - - NULL ASMTL 8623 genome.wustl.edu 37 X 1537964 1537964 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004192.3 -1 reviewed p.R430Q 0.536 48 0% 58 31% 196 51.5% possibly_damaging(0.597) tolerated(0.6) neutral(0.211) HMMPfam_Methyltransf_2,superfamily_S-adenosyl-L-methionine-dependent methyltransferases AKAP17A 8227 genome.wustl.edu 37 X 1712712 1712712 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005088.2 +1 validated p.I119 0.985 33 0% 32 31.2% 22 13.6% - - - NULL AKAP17A 8227 genome.wustl.edu 37 X 1712898 1712898 + Silent SNP C C T rs192863245 by1000genomes TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005088.2 +1 validated p.F181 0.998 70 1.4% 104 19.2% 22 13.6% - - - NULL ASMT 438 genome.wustl.edu 37 X 1761817 1761817 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004043.2 +1 reviewed p.H344Q 0.923 417 0% 556 48.4% 0 - benign(0.002) tolerated(0.1) neutral(0.286) HMMPfam_Methyltransf_2,superfamily_SSF53335 ZBED1 9189 genome.wustl.edu 37 X 2408726 2408726 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004729.3 -1 reviewed p.D12G 1.000 136 0% 187 51.9% 14 50% possibly_damaging(0.477) tolerated(0.54) neutral(0.165) NULL XG 7499 genome.wustl.edu 37 X 2726231 2726231 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001141919.1 +1 reviewed p.D142Y 0.243 146 0% 232 43.5% 6 33.3% probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL GYG2 8908 genome.wustl.edu 37 X 2777964 2777964 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003918.2 +1 reviewed p.S263L 0.008 110 0% 122 48.4% 5 80% benign(0.103) tolerated(0.31) neutral(0.035) superfamily_Nucleotide-diphospho-sugar transferases ARSF 416 genome.wustl.edu 37 X 3030316 3030316 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004042.3 +1 reviewed p.V498I 0.961 143 0% 193 43.5% 0 - possibly_damaging(0.769) tolerated(0.15) deleterious(0.526) HMMPfam_Sulfatase,superfamily_Alkaline phosphatase-like MXRA5 25878 genome.wustl.edu 37 X 3235655 3235655 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015419.3 -1 reviewed p.Y2023D 1.000 51 0% 45 57.8% 40 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin MXRA5 25878 genome.wustl.edu 37 X 3238183 3238183 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015419.3 -1 reviewed p.S1848Y 0.001 146 0% 171 48.5% 4 75% benign(0.069) deleterious(0.02) neutral(0.388) NULL MXRA5 25878 genome.wustl.edu 37 X 3238564 3238564 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015419.3 -1 reviewed p.R1721I 0.001 241 0% 261 44.1% 2 50% benign(0.258) deleterious(0) deleterious(0.472) NULL MXRA5 25878 genome.wustl.edu 37 X 3248104 3248104 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015419.3 -1 reviewed p.D222N 1.000 169 0% 290 47.2% 1 100% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMSmart_SM00082,superfamily_L domain-like PRKX 5613 genome.wustl.edu 37 X 3559972 3559972 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005044.4 -1 reviewed p.E214K 0.998 121 0% 138 44.9% 8 62.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase NLGN4X 57502 genome.wustl.edu 37 X 5821687 5821687 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020742.2 -1 reviewed p.I344 0.492 147 0% 213 47.4% 11 72.7% - - - HMMPfam_COesterase,superfamily_alpha/beta-Hydrolases STS 412 genome.wustl.edu 37 X 7267975 7267975 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000351.4 +1 reviewed p.P475 0.124 135 0% 200 25.5% 7 28.5% - - - HMMPfam_Sulfatase,superfamily_Alkaline_phosphatase_core VCX3B 425054 genome.wustl.edu 37 X 8434463 8434463 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000440654 +1 known p.K130T 0.077 314 0% 378 56.3% 0 - - - - NULL KAL1 3730 genome.wustl.edu 37 X 8504959 8504959 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000216.2 -1 reviewed p.L492M 1.000 308 0% 326 13.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_FN3 WWC3 55841 genome.wustl.edu 37 X 10062201 10062201 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015691.3 +1 validated p.K179N 1.000 103 0% 113 40.7% 10 0% benign(0.009) tolerated(0.3) neutral(0.029) NULL CLCN4 1183 genome.wustl.edu 37 X 10176400 10176400 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001830.3 +1 reviewed p.N387D 1.000 78 0% 109 41.3% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_Voltage_CLC,superfamily_Clc chloride channel MID1 4281 genome.wustl.edu 37 X 10417525 10417525 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000381.2 -1 reviewed p.F629 1.000 93 0% 151 45% 18 0% - - - HMMPfam_SPRY,HMMSmart_SM00449 ARHGAP6 395 genome.wustl.edu 37 X 11187648 11187648 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_013427.2 -1 reviewed p.E596* 1.000 208 0% 269 45.4% 0 - - - - HMMSmart_SM00324,superfamily_GTPase activation domain GAP FRMPD4 9758 genome.wustl.edu 37 X 12722533 12722533 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014728.3 +1 reviewed p.E376* 1.000 237 0% 298 44% 0 - - - - HMMPfam_FERM_M,superfamily_FERM_3-hlx,HMMSmart_B41 FRMPD4 9758 genome.wustl.edu 37 X 12725710 12725710 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014728.3 +1 reviewed p.I470 0.156 204 0% 298 42.6% 0 - - - - NULL TRAPPC2 6399 genome.wustl.edu 37 X 13732584 13732584 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001011658.3 -1 reviewed p.R122Q 1.000 232 0% 291 38.1% 2 0% benign(0.027) tolerated(0.48) neutral(0.012) HMMPfam_Sedlin_N,superfamily_SNARE-like OFD1 8481 genome.wustl.edu 37 X 13754792 13754792 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003611.2 +1 reviewed p.E103* 1.000 128 0% 147 44.2% 1 0% - - - NULL OFD1 8481 genome.wustl.edu 37 X 13771530 13771530 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003611.2 +1 reviewed p.R367* 0.011 358 0.3% 402 45.5% 2 50% - - - NULL FANCB 2187 genome.wustl.edu 37 X 14861699 14861699 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001018113.1 -1 reviewed p.S857I 0.000 108 0% 161 47.8% 0 - benign(0.141) deleterious(0.02) neutral(0.395) NULL FANCB 2187 genome.wustl.edu 37 X 14862000 14862000 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001018113.1 -1 reviewed p.D757N 0.002 172 0% 222 47.7% 0 - benign(0) tolerated(0.15) neutral(0.241) NULL FANCB 2187 genome.wustl.edu 37 X 14863161 14863161 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001018113.1 -1 reviewed p.T582A 0.995 133 0% 142 45.1% 0 - possibly_damaging(0.921) tolerated(0.05) deleterious(0.716) NULL BMX 660 genome.wustl.edu 37 X 15564933 15564933 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001721.6 +1 reviewed p.L562I 0.996 253 0% 376 13.3% 1 0% possibly_damaging(0.479) deleterious(0.03) deleterious(0.523) HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like ACE2 59272 genome.wustl.edu 37 X 15582154 15582154 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_021804.2 -1 reviewed p.R768W 0.845 212 0% 266 47% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ACE2 59272 genome.wustl.edu 37 X 15589853 15589853 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_021804.2 -1 reviewed p.K577N 0.002 521 0% 607 26.5% 0 - possibly_damaging(0.471) tolerated(0.08) neutral(0.456) "HMMPfam_Peptidase_M2,superfamily_Metalloproteases (""zincins"") catalytic domain" ACE2 59272 genome.wustl.edu 37 X 15596384 15596384 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_021804.2 -1 reviewed p.E375D 1.000 134 0% 199 42.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) "HMMPfam_Peptidase_M2,superfamily_Metalloproteases (""zincins"") catalytic domain" CA5B 11238 genome.wustl.edu 37 X 15768177 15768177 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_007220.3 +1 reviewed p.L11I 0.013 188 0% 184 38% 7 85.7% benign(0.004) deleterious(0) neutral(0.445) NULL GRPR 2925 genome.wustl.edu 37 X 16142227 16142227 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005314.2 +1 reviewed p.I51V 1.000 194 0% 311 50.2% 2 0% probably_damaging(0.998) tolerated(0.06) deleterious(0.797) superfamily_Family A G protein-coupled receptor-like GRPR 2925 genome.wustl.edu 37 X 16168665 16168665 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005314.2 +1 reviewed p.V217 0.998 331 0% 441 46.3% 2 50% - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like TXLNG 55787 genome.wustl.edu 37 X 16847870 16847870 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018360.2 +1 reviewed p.E281K 1.000 192 0% 274 33.6% 3 33.3% possibly_damaging(0.926) deleterious(0) deleterious(0.819) HMMPfam_Taxilin RBBP7 5931 genome.wustl.edu 37 X 16870696 16870696 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002893.3 -1 reviewed p.S314Y 1.000 131 0% 148 38.5% 94 0% benign(0.006) tolerated(0.2) neutral(0.049) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 RBBP7 5931 genome.wustl.edu 37 X 16876913 16876913 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002893.3 -1 reviewed p.E123K 1.000 345 0% 482 39.4% 424 0.2% benign(0.005) tolerated(0.31) neutral(0.027) HMMSmart_SM00320,superfamily_WD40 repeat-like NHS 4810 genome.wustl.edu 37 X 17739695 17739695 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_198270.2 +1 reviewed p.E329D 1.000 489 0.6% 679 10.5% 3 0% possibly_damaging(0.942) deleterious(0.01) deleterious(0.792) NULL NHS 4810 genome.wustl.edu 37 X 17745255 17745255 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_198270.2 +1 reviewed p.A989D 1.000 56 0% 53 34% 0 - probably_damaging(0.996) deleterious(0.04) deleterious(0.810) NULL SCML1 6322 genome.wustl.edu 37 X 17767535 17767535 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001037540.1 +1 validated p.L72 0.000 292 0% 355 40.6% 0 - - - - NULL SCML1 6322 genome.wustl.edu 37 X 17770069 17770069 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001037540.1 +1 validated p.D280N 0.002 437 0% 580 48.3% 8 87.5% probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_SAM_1,HMMSmart_SM00454,superfamily_SAM/Pointed domain RAI2 10742 genome.wustl.edu 37 X 17820053 17820053 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_021785.4 -1 reviewed p.E26 0.996 102 0% 142 45.1% 69 97.1% - - - NULL BEND2 139105 genome.wustl.edu 37 X 18194132 18194132 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_153346.4 -1 validated p.S571F 0.013 183 0% 237 46.8% 0 - possibly_damaging(0.952) deleterious(0) deleterious(0.840) HMMPfam_BEN SCML2 10389 genome.wustl.edu 37 X 18338512 18338512 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006089.2 -1 validated p.P142 0.857 338 0% 351 42.2% 1 100% - - - HMMSmart_SM00561,superfamily_Tudor/PWWP/MBT CDKL5 6792 genome.wustl.edu 37 X 18593504 18593504 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001037343.1 +1 reviewed p.R59Q 1.000 293 0% 375 48.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase RS1 6247 genome.wustl.edu 37 X 18690182 18690182 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000330.3 -1 reviewed p.R3C 0.701 216 0.5% 255 38% 0 - unknown(0) tolerated(0.14) - NULL PPEF1 5475 genome.wustl.edu 37 X 18768005 18768005 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006240.2 +1 reviewed p.R111W 0.976 202 0% 288 49% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PPP5,superfamily_Metallo-dependent phosphatases PHKA2 5256 genome.wustl.edu 37 X 18912487 18912487 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000292.2 -1 reviewed p.V1124 1.000 51 0% 71 42.3% 60 0% - - - HMMPfam_PHK_AB PHKA2 5256 genome.wustl.edu 37 X 18923936 18923936 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000292.2 -1 reviewed p.D950N 1.000 263 0% 347 42.1% 14 0% benign(0.024) tolerated(0.07) neutral(0.320) HMMPfam_PHK_AB GPR64 10149 genome.wustl.edu 37 X 19031926 19031926 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001079858.2 -1 validated p.S326Y 0.130 320 0% 501 42.7% 0 - probably_damaging(0.981) deleterious(0) deleterious(0.870) NULL PDHA1 5160 genome.wustl.edu 37 X 19368100 19368100 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000284.3 +1 reviewed p.V55L 0.999 322 0% 395 44.1% 114 0% benign(0.003) tolerated(0.23) neutral(0.042) superfamily_Thiamin diphosphate-binding fold (THDP-binding) PDHA1 5160 genome.wustl.edu 37 X 19368172 19368172 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000284.3 +1 reviewed p.D79Y 1.000 542 0% 726 45.2% 59 0% probably_damaging(0.965) deleterious(0.01) deleterious(0.812) HMMPfam_E1_dh,superfamily_Thiamin diphosphate-binding fold (THDP-binding) MAP3K15 389840 genome.wustl.edu 37 X 19391796 19391796 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001001671.3 -1 validated p.V406I 0.000 43 0% 66 42.4% 0 - benign(0.001) tolerated(0.4) neutral(0.016) superfamily_Kinase_like MAP3K15 389840 genome.wustl.edu 37 X 19431480 19431480 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000338883 -1 known p.E565* 1.000 510 0% 608 40.5% 0 - - - - NULL MAP3K15 389840 genome.wustl.edu 37 X 19533070 19533070 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000338883 -1 known p.G104R 1.000 7 0.000 14 0.357 0 - probably_damaging(1) tolerated(0.05) deleterious(0.845) NULL CXorf23 256643 genome.wustl.edu 37 X 19973551 19973551 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_198279.3 -1 validated p.E470* 1.000 483 0% 632 43.5% 2 0% - - - NULL MAP7D2 256714 genome.wustl.edu 37 X 20029058 20029058 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152780.3 -1 validated p.D688Y 1.000 129 0% 144 13.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL MAP7D2 256714 genome.wustl.edu 37 X 20043155 20043155 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152780.3 -1 validated p.A401 0.844 324 0% 356 42.1% 0 - - - - HMMPfam_MAP7 CNKSR2 22866 genome.wustl.edu 37 X 21519658 21519658 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014927.3 +1 reviewed p.K254N 1.000 137 0% 188 42.6% 0 - probably_damaging(1) tolerated(0.14) deleterious(0.750) HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like SMPX 23676 genome.wustl.edu 37 X 21772398 21772398 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014332.1 -1 provisional p.S4L 1.000 212 0% 197 38.6% 0 - possibly_damaging(0.474) deleterious(0) deleterious(0.601) NULL MBTPS2 51360 genome.wustl.edu 37 X 21887785 21887785 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015884.3 +1 reviewed p.F320S 1.000 101 0% 137 48.2% 1 0% benign(0.062) tolerated(0.24) neutral(0.041) HMMPfam_Peptidase_M50 PHEX 5251 genome.wustl.edu 37 X 22095740 22095740 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000444.4 +1 reviewed p.R195C 0.997 262 0% 281 46.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Peptidase_M13_N,superfamily_SSF55486 DDX53 168400 genome.wustl.edu 37 X 23019263 23019263 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_182699.2 +1 validated p.N363K 0.000 117 0% 149 44.3% 0 - benign(0.023) tolerated(0.14) neutral(0.251) HMMPfam_DEAD,HMMSmart_DEXDc,superfamily_SSF52540 LOC653707 653707 genome.wustl.edu 37 X 23216506 23216506 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_002343798.1 +1 model p.F17 0.068 309 0% 362 44.5% 0 - - - - NULL LOC653707 653707 genome.wustl.edu 37 X 23216638 23216638 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_002343798.1 +1 model p.F61 0.300 363 0.3% 433 44.8% 0 - - - - NULL ACOT9 23597 genome.wustl.edu 37 X 23724806 23724806 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001037171.1 -1 reviewed p.A261T 1.000 197 0% 278 39.9% 8 0% possibly_damaging(0.932) tolerated(0.1) deleterious(0.665) NULL ACOT9 23597 genome.wustl.edu 37 X 23748962 23748962 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001037171.1 -1 reviewed p.E111D 1.000 161 0% 162 41.4% 11 0% benign(0.013) tolerated(0.68) neutral(0.003) superfamily_Thioesterase/thiol ester dehydrase-isomerase KLHL15 80311 genome.wustl.edu 37 X 24006660 24006660 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_030624.2 -1 reviewed p.R398I 1.000 165 0% 247 45.7% 3 0% probably_damaging(0.983) tolerated(0.07) deleterious(0.748) HMMPfam_Kelch_1,HMMSmart_Kelch,superfamily_Gal_oxid_central EIF2S3 1968 genome.wustl.edu 37 X 24073733 24073733 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001415.3 +1 reviewed p.D24G 1.000 170 0% 183 34.4% 151 12.5% benign(0.02) deleterious(0.03) neutral(0.365) NULL ZFX 7543 genome.wustl.edu 37 X 24229221 24229221 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003410.3 +1 reviewed p.D716N 1.000 214 0% 309 49.2% 9 33.3% benign(0.038) tolerated(0.32) neutral(0.026) superfamily_C2H2 and C2HC zinc fingers PDK3 5165 genome.wustl.edu 37 X 24523330 24523330 + Silent SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001142386.2 +1 reviewed p.L170 0.930 333 0% 414 41.3% 9 0% - - - HMMPfam_BCDHK_Adom3,superfamily_SSF69012 PCYT1B 9468 genome.wustl.edu 37 X 24593334 24593334 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004845.4 -1 reviewed p.K270N 1.000 788 0% 955 41% 0 - possibly_damaging(0.592) deleterious(0.04) deleterious(0.553) NULL POLA1 5422 genome.wustl.edu 37 X 24722537 24722537 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016937.3 +1 reviewed p.E93D 1.000 891 0% 1005 42.4% 7 100% possibly_damaging(0.518) tolerated(0.41) neutral(0.190) NULL POLA1 5422 genome.wustl.edu 37 X 24745086 24745086 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016937.3 +1 reviewed p.E471* 1.000 214 0.5% 253 42.3% 0 - - - - HMMPfam_DNA_pol_B_exo,superfamily_RNaseH_fold POLA1 5422 genome.wustl.edu 37 X 24839595 24839595 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016937.3 +1 reviewed p.Y1146 1.000 207 0% 289 38.1% 6 0% - - - HMMPfam_DNA_pol_B,superfamily_SSF56672 MAGEB18 286514 genome.wustl.edu 37 X 26157655 26157655 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_173699.3 +1 validated p.D185Y 0.003 88 0% 103 35% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MAGE MAGEB18 286514 genome.wustl.edu 37 X 26157841 26157841 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_173699.3 +1 validated p.D247Y 0.789 226 0% 300 45.3% 0 - possibly_damaging(0.673) deleterious(0) deleterious(0.683) HMMPfam_MAGE DCAF8L2 347442 genome.wustl.edu 37 X 27765778 27765778 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001136533.1 +1 provisional p.D256Y 1.000 146 0% 174 40.2% 0 - - - - HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 MAGEB10 139422 genome.wustl.edu 37 X 27839704 27839704 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_182506.3 +1 reviewed p.P94L 0.001 85 0% 102 43.1% 0 - benign(0.132) tolerated(0.33) neutral(0.035) NULL IL1RAPL1 11141 genome.wustl.edu 37 X 29973330 29973330 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014271.3 +1 reviewed p.R495I 1.000 140 0% 184 46.2% 0 - probably_damaging(0.982) tolerated(0.05) deleterious(0.772) HMMPfam_TIR,HMMSmart_SM00255,superfamily_Toll/Interleukin receptor TIR domain MAGEB2 4113 genome.wustl.edu 37 X 30236743 30236743 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002364.4 +1 reviewed p.R16C 0.049 98 0% 136 43.4% 0 - probably_damaging(0.998) tolerated(0.07) deleterious(0.793) NULL MAGEB2 4113 genome.wustl.edu 37 X 30237385 30237385 + Silent SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002364.4 +1 reviewed p.L230 0.000 230 0% 273 46.9% 0 - - - - HMMPfam_MAGE MAGEB2 4113 genome.wustl.edu 37 X 30237458 30237458 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002364.4 +1 reviewed p.Q254R 0.013 203 0% 208 42.3% 0 - benign(0.012) tolerated(0.8) neutral(0.001) HMMPfam_MAGE MAGEB1 4112 genome.wustl.edu 37 X 30268842 30268842 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002363.4 +1 reviewed p.E78K 0.000 47 0% 72 11.1% 0 - benign(0) tolerated(1) - NULL CXorf21 80231 genome.wustl.edu 37 X 30578107 30578107 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_025159.2 -1 validated p.K122N 1.000 97 0% 151 43% 0 - probably_damaging(0.996) deleterious(0.02) deleterious(0.845) NULL GK 2710 genome.wustl.edu 37 X 30714266 30714266 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001128127.1 +1 reviewed p.C220 1.000 274 0% 367 26.4% 0 - - - - HMMPfam_FGGY_N,superfamily_SSF53067 TAB3 257397 genome.wustl.edu 37 X 30873352 30873352 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152787.3 -1 reviewed p.E144K 1.000 161 0% 221 44.3% 14 100% benign(0.077) tolerated(0.18) neutral(0.061) NULL DMD 1756 genome.wustl.edu 37 X 31196837 31196837 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004006.2 -1 reviewed p.R3391Q 1.000 217 0% 297 41.4% 3 0% probably_damaging(1) tolerated(0.11) deleterious(0.772) NULL DMD 1756 genome.wustl.edu 37 X 31525458 31525458 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004006.2 -1 reviewed p.R2777I 1.000 536 0% 736 45.2% 0 - probably_damaging(0.991) deleterious(0.01) deleterious(0.850) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat DMD 1756 genome.wustl.edu 37 X 31676192 31676192 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004006.2 -1 reviewed p.L2648I 1.000 321 0% 342 26.3% 0 - benign(0.178) tolerated(0.4) neutral(0.033) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat DMD 1756 genome.wustl.edu 37 X 32382735 32382735 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004006.2 -1 reviewed p.E1706D 1.000 704 0.1% 918 14.7% 0 - benign(0.001) tolerated(0.23) neutral(0.042) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat DMD 1756 genome.wustl.edu 37 X 32456459 32456459 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004006.2 -1 reviewed p.R1324C 1.000 379 0% 436 42.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat FAM47B 170062 genome.wustl.edu 37 X 34962272 34962272 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152631.2 +1 validated p.D442Y 0.001 207 0% 253 41.1% 0 - probably_damaging(0.996) deleterious(0.02) deleterious(0.845) NULL FAM47B 170062 genome.wustl.edu 37 X 34962607 34962607 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152631.2 +1 validated p.F553 0.000 155 0% 185 48.6% 0 - - - - NULL CXorf30 645090 genome.wustl.edu 37 X 36402918 36402918 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001098843.3 +1 validated p.E567* 0.000 56 0% 61 45.9% 2 0% - - - NULL XK 7504 genome.wustl.edu 37 X 37587522 37587522 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_021083.2 +1 reviewed p.S381Y 1.000 230 0% 219 48.9% 1 100% possibly_damaging(0.867) deleterious(0.01) deleterious(0.742) NULL XK 7504 genome.wustl.edu 37 X 37587685 37587685 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_021083.2 +1 reviewed p.F435L 0.000 54 0% 66 45.5% 0 - benign(0) tolerated(0.15) neutral(0.241) NULL SYTL5 94122 genome.wustl.edu 37 X 37969664 37969664 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_138780.2 +1 reviewed p.E509K 1.000 193 0% 303 22.8% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB RPGR 6103 genome.wustl.edu 37 X 38146002 38146002 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001034853.1 -1 reviewed p.E750D 0.001 752 0% 1050 42.2% 1 100% unknown(0) tolerated(0.68) - NULL RPGR 6103 genome.wustl.edu 37 X 38146424 38146424 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001034853.1 -1 reviewed p.E610* 0.001 211 0% 355 41.7% 8 0% - - - NULL RPGR 6103 genome.wustl.edu 37 X 38178171 38178171 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001034853.1 -1 reviewed p.R127I 0.848 208 0% 270 45.6% 1 100% possibly_damaging(0.949) tolerated(0.06) deleterious(0.716) superfamily_RCC1/BLIP-II OTC 5009 genome.wustl.edu 37 X 38271192 38271192 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000531.5 +1 reviewed p.V315 0.864 265 0% 348 37.9% 0 - - - - superfamily_Aspartate/ornithine carbamoyltransferase,HMMPfam_OTCace MED14 9282 genome.wustl.edu 37 X 40540143 40540143 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004229.3 -1 reviewed p.S826L 1.000 178 0.6% 221 40.7% 17 82.3% possibly_damaging(0.643) tolerated(0.31) neutral(0.253) NULL MED14 9282 genome.wustl.edu 37 X 40551443 40551443 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004229.3 -1 reviewed p.R658W 1.000 335 0% 434 40.3% 5 0% probably_damaging(0.972) deleterious(0.01) deleterious(0.820) NULL NYX 60506 genome.wustl.edu 37 X 41333840 41333840 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_022567.2 +1 reviewed p.F378 0.013 18 0% 13 38.5% 0 - - - - HMMSmart_LRRCT CASK 8573 genome.wustl.edu 37 X 41420820 41420820 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003688.3 -1 reviewed p.K554Q 1.000 239 0% 339 46.6% 18 0% benign(0.389) tolerated(0.42) neutral(0.139) superfamily_SH3,HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ MAOA 4128 genome.wustl.edu 37 X 43587532 43587532 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000240.2 +1 reviewed p.R206W 0.986 355 0% 473 44% 8 0% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_Amino_oxidase,superfamily_FAD/NAD(P)-binding domain MAOA 4128 genome.wustl.edu 37 X 43603404 43603404 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000240.2 +1 reviewed p.E475* 0.986 300 0% 389 39.3% 27 0% - - - superfamily_FAD/NAD(P)-binding domain NDP 4693 genome.wustl.edu 37 X 43809221 43809221 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000266.3 -1 reviewed p.E76K 1.000 50 0% 44 40.9% 66 0% benign(0.253) tolerated(0.05) neutral(0.371) HMMSmart_SM00041 EFHC2 80258 genome.wustl.edu 37 X 44101387 44101387 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000441230 -1 known p.E401* 1.000 382 0.3% 464 39% 1 0% benign(0.017) tolerated(0.14) neutral(0.250) NULL DUSP21 63904 genome.wustl.edu 37 X 44703878 44703878 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_022076.3 +1 reviewed p.R167H 0.010 62 0% 80 30% 1 100% benign(0.037) tolerated(0.43) neutral(0.015) NULL ZNF673 55634 genome.wustl.edu 37 X 46332344 46332344 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001129898.1 +1 validated p.S138Y 0.001 196 0% 258 25.6% 2 0% probably_damaging(0.999) tolerated(0.08) deleterious(0.790) NULL ZNF674 641339 genome.wustl.edu 37 X 46359894 46359894 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001039891.2 -1 validated p.R377I 0.000 267 0% 308 39.9% 0 - benign(0.011) tolerated(0.07) neutral(0.320) superfamily_SSF57667 SLC9A7 84679 genome.wustl.edu 37 X 46495061 46495061 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032591.1 -1 reviewed p.E546K 1.000 176 0% 206 45.6% 1 0% benign(0.002) tolerated(0.06) neutral(0.323) NULL SLC9A7 84679 genome.wustl.edu 37 X 46502730 46502730 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032591.1 -1 reviewed p.F518L 1.000 61 0% 118 44.1% 7 0% possibly_damaging(0.501) tolerated(0.33) neutral(0.192) HMMPfam_Na_H_Exchanger RP2 6102 genome.wustl.edu 37 X 46713160 46713160 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006915.2 +1 reviewed p.R118C 1.000 144 0% 199 41.7% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_CARP,HMMPfam_TBCC RP2 6102 genome.wustl.edu 37 X 46713336 46713336 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006915.2 +1 reviewed p.D176E 1.000 183 0% 244 50.4% 8 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_TBCC PHF16 9767 genome.wustl.edu 37 X 46844338 46844338 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001077445.1 +1 reviewed p.E15K 0.481 329 0.3% 382 46.3% 0 - benign(0.042) tolerated(0.78) neutral(0.004) NULL NDUFB11 54539 genome.wustl.edu 37 X 47002088 47002088 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_019056.5 -1 validated p.R88Q 0.941 257 0.4% 349 46.1% 610 90.9% possibly_damaging(0.853) tolerated(0.13) deleterious(0.581) HMMPfam_ESSS USP11 8237 genome.wustl.edu 37 X 47107095 47107095 + Silent SNP C C T rs182381425 by1000genomes TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004651.3 +1 reviewed p.I917 0.985 113 0% 189 52.4% 197 0% - - - HMMPfam_UCH,superfamily_SSF54001 ZNF41 7592 genome.wustl.edu 37 X 47307709 47307709 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_007130.2 -1 reviewed p.R487I 0.684 301 0% 406 44.1% 3 100% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF41 7592 genome.wustl.edu 37 X 47307835 47307835 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_007130.2 -1 reviewed p.G445V 0.999 131 0% 165 43.6% 5 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers SYN1 6853 genome.wustl.edu 37 X 47432303 47432303 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006950.3 -1 reviewed p.R693H 1.000 178 0% 192 43.2% 0 - unknown(0) deleterious(0) - NULL TIMP1 7076 genome.wustl.edu 37 X 47444623 47444623 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003254.2 +1 reviewed p.A74V 0.009 78 0% 89 13.5% 442 0% possibly_damaging(0.487) tolerated(0.11) neutral(0.433) HMMPfam_TIMP,HMMSmart_SM00206,superfamily_TIMP-like ELK1 2002 genome.wustl.edu 37 X 47496466 47496466 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001114123.1 -1 reviewed p.F378L 1.000 176 0% 259 39.4% 55 0% benign(0.001) deleterious(0) neutral(0.445) NULL ZNF81 347344 genome.wustl.edu 37 X 47705707 47705707 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_007137.3 +1 reviewed p.G14D 0.019 63 0% 123 33.3% 1 0% benign(0.001) tolerated(0.38) neutral(0.018) superfamily_Krueppel-associated_box SSX4 6759 genome.wustl.edu 37 X 48244008 48244008 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005636.3 +1 reviewed p.F25 0.004 252 0.8% 292 23.3% 0 - - - - HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box SSX4B 548313 genome.wustl.edu 37 X 48270302 48270302 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001034832.2 -1 reviewed p.F25 0.001 730 0.1% 824 21.4% 0 - - - - HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box PORCN 64840 genome.wustl.edu 37 X 48369715 48369715 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_203475.1 +1 reviewed p.V57M 1.000 193 0% 247 46.6% 55 94.5% benign(0.052) tolerated(0.16) neutral(0.062) NULL TBC1D25 4943 genome.wustl.edu 37 X 48417730 48417730 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002536.2 +1 validated p.R234Q 1.000 40 0% 73 41.1% 21 0% possibly_damaging(0.516) deleterious(0) deleterious(0.618) HMMPfam_TBC,HMMSmart_SM00164,superfamily_Ypt/Rab-GAP domain of gyp1p TBC1D25 4943 genome.wustl.edu 37 X 48419294 48419294 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002536.2 +1 validated p.L666 0.856 16 0% 24 37.5% 12 0% - - - superfamily_Ypt/Rab-GAP domain of gyp1p WAS 7454 genome.wustl.edu 37 X 48545285 48545285 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000377.2 +1 reviewed p.K225N 1.000 212 0% 216 40.3% 2 0% probably_damaging(1) tolerated(0.38) deleterious(0.517) NULL GATA1 2623 genome.wustl.edu 37 X 48649666 48649666 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002049.3 +1 reviewed p.P50 0.000 24 0% 17 52.9% 0 - - - - NULL HDAC6 10013 genome.wustl.edu 37 X 48674977 48674977 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006044.2 +1 reviewed p.F576 0.019 75 0% 99 37.4% 15 0% - - - HMMPfam_Hist_deacetyl,superfamily_SSF52768 HDAC6 10013 genome.wustl.edu 37 X 48675808 48675808 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006044.2 +1 reviewed p.F623L 1.000 63 0% 107 38.3% 22 0% possibly_damaging(0.932) deleterious(0) deleterious(0.823) HMMPfam_Hist_deacetyl,superfamily_SSF52768 GPKOW 27238 genome.wustl.edu 37 X 48973404 48973404 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015698.4 -1 validated p.D298G 0.985 76 0% 99 44.4% 80 0% probably_damaging(0.998) tolerated(0.26) deleterious(0.508) NULL CACNA1F 778 genome.wustl.edu 37 X 49067821 49067821 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005183.2 -1 reviewed p.I1418 0.952 210 0% 205 39.5% 0 - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels USP27X 389856 genome.wustl.edu 37 X 49645861 49645861 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001145073.1 +1 provisional p.A317 0.993 128 0% 184 44% 4 0% - - - HMMPfam_UCH,superfamily_SSF54001 CLCN5 1184 genome.wustl.edu 37 X 49851180 49851180 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001127898.1 +1 reviewed p.A404T 1.000 155 0% 208 47.6% 3 0% benign(0.006) tolerated(0.45) neutral(0.012) HMMPfam_Voltage_CLC,superfamily_Clc chloride channel AKAP4 8852 genome.wustl.edu 37 X 49962234 49962234 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003886.2 -1 reviewed p.V45 0.407 225 0% 342 46.8% 0 - - - - HMMSmart_SM00807 CCNB3 85417 genome.wustl.edu 37 X 50051865 50051865 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_033031.2 +1 reviewed p.K232N 0.006 60 0% 73 54.8% 0 - possibly_damaging(0.952) deleterious(0) deleterious(0.840) NULL CCNB3 85417 genome.wustl.edu 37 X 50052214 50052214 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_033031.2 +1 reviewed p.S349P 0.000 112 0% 165 44.8% 0 - possibly_damaging(0.722) tolerated(0.69) neutral(0.264) NULL CCNB3 85417 genome.wustl.edu 37 X 50090765 50090765 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_033031.2 +1 reviewed p.L1317 0.104 104 0% 149 45.6% 0 - - - - HMMPfam_Cyclin_C,HMMSmart_SM00385,superfamily_Cyclin-like CXorf67 340602 genome.wustl.edu 37 X 51150845 51150845 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000342995 +1 known p.R326H 0.000 9 0.000 8 0.625 0 - probably_damaging(0.997) tolerated(0.28) deleterious(0.498) NULL GSPT2 23708 genome.wustl.edu 37 X 51487236 51487236 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018094.4 +1 reviewed p.P172T 0.797 68 0% 96 45.8% 4 75% benign(0) tolerated(0.33) neutral(0.024) NULL GSPT2 23708 genome.wustl.edu 37 X 51487803 51487803 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018094.4 +1 reviewed p.E361K 0.997 235 0% 257 40.5% 3 0% benign(0.002) tolerated(0.12) neutral(0.261) HMMPfam_GTP_EFTU,superfamily_SSF52540 GPR173 54328 genome.wustl.edu 37 X 53106440 53106440 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018969.5 +1 reviewed p.R213C 1.000 22 0% 27 37% 7 28.5% probably_damaging(0.99) deleterious(0.01) deleterious(0.847) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like TSPYL2 64061 genome.wustl.edu 37 X 53114232 53114232 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_022117.3 +1 reviewed p.F365S 1.000 85 0% 94 24.5% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_NAP KDM5C 8242 genome.wustl.edu 37 X 53239622 53239622 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004187.3 -1 reviewed p.N574D 1.000 478 0% 678 16.4% 251 18.7% benign(0.081) deleterious(0.01) neutral(0.412) HMMSmart_SM00558,HMMPfam_JmjC HUWE1 10075 genome.wustl.edu 37 X 53563196 53563196 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_031407.4 -1 reviewed p.S4148I 1.000 182 0% 261 41.4% 127 0% unknown(0) deleterious(0) - HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain HUWE1 10075 genome.wustl.edu 37 X 53654453 53654453 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_031407.4 -1 reviewed p.L466S 1.000 303 0% 321 46.7% 6 0% benign(0.312) tolerated(0.13) neutral(0.350) HMMPfam_DUF913,superfamily_ARM repeat HUWE1 10075 genome.wustl.edu 37 X 53674313 53674313 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_031407.4 -1 reviewed p.E117* 1.000 125 0% 166 46.4% 7 0% - - - HMMPfam_DUF908 FAM120C 54954 genome.wustl.edu 37 X 54114219 54114219 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017848.4 -1 validated p.R869Q 0.980 155 0% 192 50.5% 2 0% possibly_damaging(0.946) deleterious(0.03) deleterious(0.754) NULL WNK3 65267 genome.wustl.edu 37 X 54319365 54319365 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020922.4 -1 reviewed p.P665S 1.000 227 0% 350 43.1% 0 - benign(0.001) tolerated(0.82) neutral(0.001) superfamily_Kinase_like GNL3L 54552 genome.wustl.edu 37 X 54569404 54569404 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_019067.5 +1 reviewed p.E108G 0.994 236 0% 259 38.2% 15 100% possibly_damaging(0.778) tolerated(0.08) deleterious(0.591) NULL GNL3L 54552 genome.wustl.edu 37 X 54574757 54574757 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_019067.5 +1 reviewed p.N242K 1.000 206 0% 230 42.2% 13 0% possibly_damaging(0.768) deleterious(0) deleterious(0.730) superfamily_SSF52540 ITIH6 347365 genome.wustl.edu 37 X 54777672 54777672 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_198510.2 -1 reviewed p.S1165Y 0.000 168 0% 249 20.1% 0 - benign(0.032) deleterious(0.01) neutral(0.407) HMMPfam_ITI_HC_C ITIH6 347365 genome.wustl.edu 37 X 54784266 54784266 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_198510.2 -1 reviewed p.Q747H 0.072 230 0% 327 46.2% 0 - benign(0.02) - - NULL MAGED2 10916 genome.wustl.edu 37 X 54836277 54836277 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014599.4 +1 reviewed p.K56N 0.000 98 1% 124 35.5% 41 0% probably_damaging(0.995) tolerated(0.14) deleterious(0.707) NULL LOC100288052 100288052 genome.wustl.edu 37 X 54841923 54841923 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_002344195.1 -1 model p.L77F 0.990 42 0% 65 50.8% 327 0.3% - - - NULL TRO 7216 genome.wustl.edu 37 X 54955421 54955421 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001039705.1 +1 reviewed p.P755H 0.001 64 0% 67 16.4% 2 0% benign(0.127) deleterious(0.02) neutral(0.394) NULL TRO 7216 genome.wustl.edu 37 X 54955761 54955761 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001039705.1 +1 reviewed p.S868 0.000 54 0% 74 47.3% 4 0% - - - NULL TRO 7216 genome.wustl.edu 37 X 54957639 54957639 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016157.2 +1 reviewed p.I663M 0.188 433 0.2% 550 46.2% 4 0% probably_damaging(0.978) tolerated(0.53) neutral(0.428) NULL PAGE3 139793 genome.wustl.edu 37 X 55290300 55290300 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000374951 -1 known p.E13* 0.001 377 0% 455 49% 0 - - - - HMMPfam_GAGE USP51 158880 genome.wustl.edu 37 X 55514189 55514189 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_201286.3 -1 validated p.K395T 1.000 190 0% 244 18.9% 0 - benign(0.099) tolerated(0.24) neutral(0.045) HMMPfam_UCH,superfamily_SSF54001 RRAGB 10325 genome.wustl.edu 37 X 55745778 55745778 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016656.3 +1 validated p.K42Q 1.000 562 0% 629 44.2% 3 100% benign(0.181) deleterious(0.01) neutral(0.422) superfamily_P-loop containing nucleoside triphosphate hydrolases RRAGB 10325 genome.wustl.edu 37 X 55757993 55757993 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016656.3 +1 validated p.L192M 1.000 100 0% 102 21.6% 6 0% possibly_damaging(0.599) deleterious(0.02) deleterious(0.591) HMMPfam_Gtr1_RagA,superfamily_P-loop containing nucleoside triphosphate hydrolases KLF8 11279 genome.wustl.edu 37 X 56291866 56291866 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_007250.4 +1 reviewed p.K112R 0.112 152 0% 171 35.1% 3 0% benign(0.002) tolerated(0.19) neutral(0.050) NULL KLF8 11279 genome.wustl.edu 37 X 56292145 56292145 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_007250.4 +1 reviewed p.L205R 1.000 89 0% 95 47.4% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL UBQLN2 29978 genome.wustl.edu 37 X 56590444 56590444 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_013444.3 +1 reviewed p.F46 1.000 24 0% 32 50% 5 0% - - - HMMPfam_ubiquitin,HMMSmart_SM00213,superfamily_Ubiquitin-like UBQLN2 29978 genome.wustl.edu 37 X 56591086 56591086 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_013444.3 +1 reviewed p.S260 1.000 102 0% 114 45.6% 13 0% - - - NULL ZXDA 7789 genome.wustl.edu 37 X 57935325 57935325 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_007156.4 -1 reviewed p.F510 0.935 172 0.6% 222 43.7% 2 50% - - - HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZXDA 7789 genome.wustl.edu 37 X 57935422 57935422 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_007156.4 -1 reviewed p.R478Q 1.000 144 0.7% 177 46.9% 4 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF57667 FAM123B 139285 genome.wustl.edu 37 X 63410818 63410818 + Silent SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152424.3 -1 reviewed p.F783 0.680 44 0% 59 15.3% 6 0% - - - NULL FAM123B 139285 genome.wustl.edu 37 X 63411783 63411783 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152424.3 -1 reviewed p.E462* 1.000 205 0% 205 55.1% 12 0% - - - HMMPfam_WTX ASB12 142689 genome.wustl.edu 37 X 63445505 63445505 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000361287 -1 known p.K9T 0.996 83 0% 85 47.1% 5 100% probably_damaging(0.99) deleterious(0.03) deleterious(0.806) NULL ZC3H12B 340554 genome.wustl.edu 37 X 64717088 64717088 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001010888.3 +1 reviewed p.D218Y 1.000 210 0% 237 20.3% 0 - possibly_damaging(0.872) deleterious(0.05) deleterious(0.684) NULL ZC3H12B 340554 genome.wustl.edu 37 X 64722044 64722044 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001010888.3 +1 reviewed p.S478L 1.000 179 0% 192 43.2% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL LOC100129585 100129585 genome.wustl.edu 37 X 65176315 65176315 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_001721365.2 -1 model p.E28K 1.000 124 0% 187 48.1% 0 - - - - NULL LOC100288788 100288788 genome.wustl.edu 37 X 65176965 65176965 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_002343822.1 -1 model p.E25G 1.000 245 0% 328 36% 0 - - - - HMMPfam_RRM_1,HMMSmart_SM00360,HMMSmart_SM00361,superfamily_RNA-binding domain RBD HEPH 9843 genome.wustl.edu 37 X 65390484 65390484 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_138737.3 +1 reviewed p.A27 0.203 128 0% 156 47.4% 3 0% - - - superfamily_Cupredoxins HEPH 9843 genome.wustl.edu 37 X 65392377 65392377 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_138737.3 +1 reviewed p.K119N 1.000 119 0% 126 38.1% 2 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_Cupredoxins AR 367 genome.wustl.edu 37 X 66765039 66765039 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000044.2 +1 reviewed p.K17N 1.000 32 0% 37 59.5% 4 0% probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_Androgen_recep OPHN1 4983 genome.wustl.edu 37 X 67412828 67412828 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002547.2 -1 reviewed p.K403N 1.000 170 0% 239 43.1% 2 0% benign(0.002) tolerated(0.65) neutral(0.003) HMMPfam_RhoGAP,HMMSmart_RhoGAP,superfamily_Rho_GAP YIPF6 286451 genome.wustl.edu 37 X 67733244 67733244 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_173834.2 +1 provisional p.D88Y 1.000 328 0% 369 46.6% 2 100% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_Yip1 EFNB1 1947 genome.wustl.edu 37 X 68058492 68058492 + Missense_Mutation SNP C C T rs104894801 byCluster TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004429.4 +1 reviewed p.P54L 0.999 51 0% 71 38% 48 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Ephrin,superfamily_Cupredoxin PJA1 64219 genome.wustl.edu 37 X 68382671 68382671 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_145119.3 -1 reviewed p.P137 0.066 147 0% 184 40.2% 11 0% - - - NULL FAM155B 27112 genome.wustl.edu 37 X 68725597 68725597 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_015686.2 +1 validated p.E158K 0.315 25 0% 36 55.6% 0 - benign(0.15) tolerated(0.31) neutral(0.040) NULL IGBP1 3476 genome.wustl.edu 37 X 69385724 69385724 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001551.2 +1 reviewed p.E305* 0.000 496 0% 575 41.6% 110 0% - - - HMMPfam_TAP42 P2RY4 5030 genome.wustl.edu 37 X 69479145 69479145 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002565.3 -1 reviewed p.F110 0.360 106 0% 146 24.7% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 DLG3 1741 genome.wustl.edu 37 X 69699018 69699018 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_021120.3 +1 reviewed p.S475L 1.000 195 0.5% 251 44.2% 16 100% benign(0.055) deleterious(0.01) neutral(0.409) superfamily_PDZ domain-like TEX11 56159 genome.wustl.edu 37 X 69945180 69945180 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001003811.1 -1 reviewed p.S301F 0.018 188 0% 208 12% 0 - possibly_damaging(0.449) deleterious(0.02) deleterious(0.530) HMMPfam_SPO22,superfamily_TPR-like FOXO4 4303 genome.wustl.edu 37 X 70316776 70316776 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005938.3 +1 reviewed p.R133H 0.981 114 0% 112 33.9% 18 0% probably_damaging(1) deleterious(0) deleterious(0.945) "HMMPfam_Fork_head,HMMSmart_SM00339,superfamily_""Winged helix"" DNA-binding domain" IL2RG 3561 genome.wustl.edu 37 X 70330376 70330376 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000206.2 -1 reviewed p.Q144H 0.001 462 0% 558 45.9% 3 0% possibly_damaging(0.951) tolerated(0.19) neutral(0.444) superfamily_FN_III-like MED12 9968 genome.wustl.edu 37 X 70343014 70343014 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005120.2 +1 reviewed p.R519W 0.995 332 0% 463 46.4% 33 96.9% probably_damaging(0.968) deleterious(0.01) deleterious(0.816) NULL MED12 9968 genome.wustl.edu 37 X 70344691 70344691 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005120.2 +1 reviewed p.F684 1.000 266 0% 359 42.6% 6 0% - - - NULL NONO 4841 genome.wustl.edu 37 X 70514313 70514313 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001145408.1 +1 reviewed p.F195L 1.000 205 0% 261 43.3% 431 0% possibly_damaging(0.492) tolerated(0.05) deleterious(0.509) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD NONO 4841 genome.wustl.edu 37 X 70517751 70517751 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001145408.1 +1 reviewed p.R365Q 1.000 79 0% 127 44.1% 997 0.2% unknown(0) tolerated(0.1) - NULL TAF1 6872 genome.wustl.edu 37 X 70612822 70612822 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004606.3 +1 reviewed p.K1030T 1.000 286 0% 381 48.8% 4 0% probably_damaging(0.998) tolerated(0.07) deleterious(0.793) NULL OGT 8473 genome.wustl.edu 37 X 70781713 70781713 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_181672.2 +1 reviewed p.R647Q 0.992 157 0% 173 48% 19 89.4% probably_damaging(0.988) deleterious(0) deleterious(0.882) NULL OGT 8473 genome.wustl.edu 37 X 70784453 70784453 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_181672.2 +1 reviewed p.I813 0.997 155 0% 211 42.7% 41 87.8% - - - NULL RGAG4 340526 genome.wustl.edu 37 X 71349920 71349920 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001024455.3 -1 validated p.E491K 0.789 134 0% 154 48.1% 4 50% probably_damaging(0.984) deleterious(0.03) deleterious(0.795) NULL RGAG4 340526 genome.wustl.edu 37 X 71350056 71350056 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001024455.3 -1 validated p.E445D 0.057 381 0% 491 41.1% 3 0% unknown(0) deleterious(0.04) - NULL ERCC6L 54821 genome.wustl.edu 37 X 71427452 71427452 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017669.2 -1 validated p.H389N 1.000 116 0% 125 37.6% 2 100% benign(0.081) tolerated(0.17) neutral(0.065) HMMPfam_SNF2_N CITED1 4435 genome.wustl.edu 37 X 71522080 71522080 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001144885.1 -1 reviewed p.E51D 1.000 160 0% 206 43.2% 1 100% possibly_damaging(0.791) deleterious(0) deleterious(0.741) HMMPfam_CITED RLIM 51132 genome.wustl.edu 37 X 73811991 73811991 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016120.3 -1 reviewed p.R387C 1.000 170 0% 200 47.5% 17 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ABCB7 22 genome.wustl.edu 37 X 74284962 74284962 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004299.3 -1 reviewed p.L593I 1.000 146 0% 246 32.9% 11 45.4% benign(0.009) tolerated(0.2) neutral(0.050) HMMPfam_ABC_tran,HMMSmart_AAA,superfamily_ABC_TM_1,superfamily_SSF52540 ABCB7 22 genome.wustl.edu 37 X 74289197 74289197 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004299.3 -1 reviewed p.K487N 1.000 344 0% 408 24.5% 9 0% benign(0.004) deleterious(0.03) neutral(0.364) superfamily_ABC_TM_1,superfamily_SSF52540 ZDHHC15 158866 genome.wustl.edu 37 X 74641728 74641728 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_144969.2 -1 reviewed p.K278N 1.000 337 0% 402 22.4% 0 - probably_damaging(0.978) tolerated(0.32) neutral(0.445) NULL MAGEE1 57692 genome.wustl.edu 37 X 75649358 75649358 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020932.2 +1 reviewed p.P345 0.000 11 0% 22 50% 1 100% - - - NULL ATRX 546 genome.wustl.edu 37 X 76776376 76776376 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000489.3 -1 reviewed p.L2364I 1.000 268 0% 265 23% 18 0% probably_damaging(0.994) deleterious(0.02) deleterious(0.835) NULL ATRX 546 genome.wustl.edu 37 X 76875919 76875919 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000489.3 -1 reviewed p.R1739Q 0.998 252 0% 319 44.8% 0 - benign(0.272) tolerated(0.06) neutral(0.352) HMMPfam_SNF2_N,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases ATRX 546 genome.wustl.edu 37 X 76937236 76937236 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000489.3 -1 reviewed p.R1171I 0.187 435 0% 537 17.7% 3 100% possibly_damaging(0.667) tolerated(0.06) deleterious(0.558) NULL ATRX 546 genome.wustl.edu 37 X 76939164 76939164 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000489.3 -1 reviewed p.I528M 1.000 107 0% 140 40.7% 1 0% probably_damaging(0.998) tolerated(0.05) deleterious(0.820) NULL ATRX 546 genome.wustl.edu 37 X 76940499 76940499 + Splice_Site SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000489.3 -1 reviewed e8-1 1.000 322 0% 331 43.8% 0 - - - - - ATRX 546 genome.wustl.edu 37 X 76972659 76972659 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000489.3 -1 reviewed p.E28* 1.000 480 0% 612 43.5% 1 100% - - - NULL MAGT1 84061 genome.wustl.edu 37 X 77130972 77130972 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032121.5 -1 reviewed p.I107 1.000 274 0% 402 41.3% 99 0% - - - HMMPfam_OST3_OST6,superfamily_Thioredoxin-like COX7B 1349 genome.wustl.edu 37 X 77160702 77160702 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001866.2 +1 reviewed p.E63* 0.999 310 0% 344 43.9% 972 0% - - - HMMPfam_COX7B,superfamily_Mitochondrial cytochrome c oxidase subunit VIIb ATP7A 538 genome.wustl.edu 37 X 77244038 77244038 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000052.4 +1 reviewed p.E141K 0.132 166 0% 167 41.9% 0 - benign(0.138) tolerated(0.88) neutral(0.011) superfamily_HMA heavy metal-associated domain ATP7A 538 genome.wustl.edu 37 X 77286986 77286986 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000052.4 +1 reviewed p.R1067I 0.999 202 0% 258 11.2% 3 33.3% benign(0.002) tolerated(0.53) neutral(0.007) HMMPfam_Hydrolase,superfamily_HAD-like,superfamily_Metal cation-transporting ATPase ATP-binding domain N,superfamily_Calcium ATPase transmembrane domain M ZCCHC5 203430 genome.wustl.edu 37 X 77913022 77913022 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_152694.2 -1 reviewed p.S299I 0.008 100 0% 115 44.3% 0 - possibly_damaging(0.95) tolerated(0.15) deleterious(0.635) NULL GPR174 84636 genome.wustl.edu 37 X 78427250 78427250 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032553.1 +1 validated p.S249N 1.000 222 0% 309 47.9% 0 - benign(0.009) tolerated(1) neutral(0.001) HMMPfam_7tm_1,superfamily_SSF81321 GPR174 84636 genome.wustl.edu 37 X 78427406 78427406 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032553.1 +1 validated p.R301I 1.000 225 0% 284 49.3% 1 0% possibly_damaging(0.773) tolerated(0.08) deleterious(0.587) superfamily_SSF81321 ITM2A 9452 genome.wustl.edu 37 X 78616959 78616959 + Silent SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004867.4 -1 reviewed p.P190 1.000 100 0% 141 19.9% 1 0% - - - HMMPfam_BRICHOS TBX22 50945 genome.wustl.edu 37 X 79282754 79282754 + Splice_Site SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001109878.1 +1 reviewed e6-1 1.000 125 0% 137 39.4% 0 - - - - - BRWD3 254065 genome.wustl.edu 37 X 79952303 79952303 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_153252.4 -1 reviewed p.C1001 1.000 273 0% 349 41% 3 0% - - - NULL BRWD3 254065 genome.wustl.edu 37 X 80064787 80064787 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_153252.4 -1 reviewed p.I16 0.998 274 0% 340 47.6% 1 0% - - - NULL HMGN5 79366 genome.wustl.edu 37 X 80370392 80370392 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_030763.2 -1 reviewed p.R202I 0.000 1322 0.1% 1656 26.4% 1 0% unknown(0) tolerated(0.13) - NULL CYLC1 1538 genome.wustl.edu 37 X 83128140 83128140 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_021118.1 +1 provisional p.P142T 0.000 66 0% 70 44.3% 0 - unknown(0) tolerated(0.99) - NULL CYLC1 1538 genome.wustl.edu 37 X 83129111 83129111 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_021118.1 +1 provisional p.K465N 0.113 93 0% 109 50.5% 0 - unknown(0) tolerated(0.22) - NULL CYLC1 1538 genome.wustl.edu 37 X 83129553 83129553 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_021118.1 +1 provisional p.E613* 0.988 100 0% 159 35.2% 0 - - - - NULL RPS6KA6 27330 genome.wustl.edu 37 X 83357169 83357169 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014496.4 -1 reviewed p.Y551C 1.000 211 0% 250 45.2% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase HDX 139324 genome.wustl.edu 37 X 83723879 83723879 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_144657.4 -1 validated p.Q284H 1.000 159 0% 180 41.7% 0 - benign(0) deleterious(0.04) neutral(0.349) NULL SATL1 340562 genome.wustl.edu 37 X 84347536 84347536 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000395409 -1 known p.H463R 0.814 217 0.5% 294 46.3% 5 80% benign(0.02) tolerated(0.06) neutral(0.324) HMMPfam_Acetyltransf_1,superfamily_Acyl-CoA N-acyltransferases (Nat) SATL1 340562 genome.wustl.edu 37 X 84349144 84349144 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001012980.2 -1 validated p.Q435H 0.007 191 0% 244 14.8% 0 - possibly_damaging(0.449) deleterious(0.02) deleterious(0.530) superfamily_Acyl_CoA_acyltransferase ZNF711 7552 genome.wustl.edu 37 X 84526108 84526108 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_021998.4 +1 reviewed p.L520 0.973 89 0% 142 50.7% 4 0% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers DACH2 117154 genome.wustl.edu 37 X 85769308 85769308 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_053281.3 +1 reviewed p.R185H 1.000 136 0% 128 46.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL DACH2 117154 genome.wustl.edu 37 X 86067986 86067986 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_053281.3 +1 reviewed p.E456D 1.000 120 0% 124 49.2% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL CPXCR1 53336 genome.wustl.edu 37 X 88008631 88008631 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_033048.5 +1 validated p.L72 0.002 116 0% 157 43.9% 0 - - - - NULL CPXCR1 53336 genome.wustl.edu 37 X 88008718 88008718 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_033048.5 +1 validated p.V101 0.000 130 0% 154 42.9% 0 - - - - NULL PCDH11X 27328 genome.wustl.edu 37 X 91090574 91090574 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032968.3 +1 reviewed p.Q24R 1.000 148 0% 207 13% 0 - probably_damaging(0.999) tolerated(0.08) deleterious(0.790) HMMPfam_Cadherin_2 PCDH11X 27328 genome.wustl.edu 37 X 91132049 91132049 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_032968.3 +1 reviewed p.Q270H 0.994 157 0% 235 45.5% 0 - benign(0.026) deleterious(0.02) neutral(0.384) HMMPfam_Cadherin,superfamily_Cadherin-like FAM133A 286499 genome.wustl.edu 37 X 92964656 92964656 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_173698.2 +1 validated p.L80V 0.006 89 0% 109 51.4% 0 - benign(0.009) tolerated(0.4) neutral(0.017) NULL DIAPH2 1730 genome.wustl.edu 37 X 96328002 96328002 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006729.4 +1 reviewed p.E705* 1.000 361 0% 434 37.8% 0 - - - - HMMSmart_SM00498,HMMPfam_FH2,superfamily_Formin homology 2 domain (FH2 domain) DIAPH2 1730 genome.wustl.edu 37 X 96639032 96639032 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006729.4 +1 reviewed p.D1045A 1.000 205 0% 236 47.9% 1 0% probably_damaging(0.995) deleterious(0.01) deleterious(0.863) HMMSmart_SM00498 PCDH19 57526 genome.wustl.edu 37 X 99662299 99662299 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001105243.1 -1 reviewed p.L433M 1.000 185 0% 245 49% 11 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDH19 57526 genome.wustl.edu 37 X 99662906 99662906 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001105243.1 -1 reviewed p.D230E 1.000 71 0% 111 45.9% 9 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_CA,PatternScan_CADHERIN_1,superfamily_Cadherin TSPAN6 7105 genome.wustl.edu 37 X 99891636 99891636 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003270.2 -1 reviewed p.S19N 0.998 167 0% 179 42.5% 50 0% possibly_damaging(0.617) tolerated(0.07) deleterious(0.533) HMMPfam_Tetraspannin SYTL4 94121 genome.wustl.edu 37 X 99945597 99945597 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001129896.2 -1 reviewed p.W227* 1.000 330 0% 442 47.7% 0 - - - - NULL CSTF2 1478 genome.wustl.edu 37 X 100075462 100075462 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001325.2 +1 reviewed p.F19L 0.997 149 0% 172 43% 7 0% possibly_damaging(0.805) deleterious(0) deleterious(0.748) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD CSTF2 1478 genome.wustl.edu 37 X 100078981 100078981 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001325.2 +1 reviewed p.P184L 1.000 351 0% 489 47% 18 94.4% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CSTF2 1478 genome.wustl.edu 37 X 100081744 100081744 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001325.2 +1 reviewed p.G275E 1.000 165 0% 177 42.4% 15 0% possibly_damaging(0.744) deleterious(0.01) deleterious(0.679) NULL CSTF2 1478 genome.wustl.edu 37 X 100093317 100093317 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001325.2 +1 reviewed p.K567N 0.997 191 0% 218 45.9% 2 0% probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL TMEM35 59353 genome.wustl.edu 37 X 100349847 100349847 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_021637.2 +1 validated p.E136K 1.000 124 0% 192 42.7% 0 - possibly_damaging(0.788) tolerated(0.13) deleterious(0.547) NULL DRP2 1821 genome.wustl.edu 37 X 100503109 100503109 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001939.2 +1 reviewed p.E428D 1.000 191 0% 197 45.2% 0 - benign(0.002) tolerated(0.41) neutral(0.015) HMMPfam_efhand_1,superfamily_SSF47473 TAF7L 54457 genome.wustl.edu 37 X 100537354 100537354 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024885.3 -1 reviewed p.E209* 0.394 449 0% 550 45.8% 0 - - - - HMMPfam_TAFII55_N TAF7L 54457 genome.wustl.edu 37 X 100541607 100541607 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_024885.3 -1 reviewed p.S120Y 0.770 265 0% 358 46.6% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_TAFII55_N HNRNPH2 3188 genome.wustl.edu 37 X 100666979 100666979 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001032393.1 +1 reviewed p.M1I 1.000 129 0% 200 46.5% 116 0.8% - - - NULL ARMCX1 51309 genome.wustl.edu 37 X 100808974 100808974 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016608.1 +1 reviewed p.F354C 1.000 122 0.8% 119 39.5% 0 - probably_damaging(0.983) deleterious(0) deleterious(0.873) HMMPfam_DUF634,superfamily_ARM-type_fold ZMAT1 84460 genome.wustl.edu 37 X 101138878 101138878 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001011657.2 -1 reviewed p.N507K 0.932 494 0.2% 641 24.2% 1 100% probably_damaging(0.995) tolerated(0.35) deleterious(0.478) NULL ZMAT1 84460 genome.wustl.edu 37 X 101159274 101159274 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001011657.2 -1 reviewed p.E51* 0.105 333 0% 413 18.4% 0 - - - - NULL NXF2 56001 genome.wustl.edu 37 X 101576707 101576707 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017809.3 +1 reviewed p.S401 0.093 456 0.2% 575 7.7% 0 - - - - HMMPfam_NTF2,superfamily_SSF54427 NXF2B 728343 genome.wustl.edu 37 X 101623489 101623489 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001099686.1 -1 provisional p.Q229H 0.863 791 0% 1000 9.7% 0 - possibly_damaging(0.731) tolerated(0.08) deleterious(0.567) superfamily_SSF52058 ARMCX5 64860 genome.wustl.edu 37 X 101857364 101857364 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_022838.3 +1 validated p.E99* 0.054 153 0% 233 44.2% 22 0% - - - NULL GPRASP1 9737 genome.wustl.edu 37 X 101910539 101910539 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001099410.1 +1 reviewed p.I566 0.000 60 0% 54 44.4% 3 0% - - - NULL GPRASP1 9737 genome.wustl.edu 37 X 101910580 101910580 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001099410.1 +1 reviewed p.F580S 0.014 65 0% 67 44.8% 2 0% probably_damaging(0.991) deleterious(0.05) deleterious(0.789) NULL NGFRAP1 27018 genome.wustl.edu 37 X 102632645 102632645 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_206915.1 +1 validated p.E76* 1.000 292 0% 418 40.4% 236 80.9% - - - HMMPfam_BEX MORF4L2 9643 genome.wustl.edu 37 X 102931603 102931603 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001142418.1 -1 validated p.R118I 1.000 144 0% 168 17.3% 23 21.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MRG MORF4L2 9643 genome.wustl.edu 37 X 102931671 102931671 + Silent SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001142418.1 -1 validated p.P95 0.975 131 0% 118 41.5% 33 84.8% - - - HMMPfam_MRG TMEM31 203562 genome.wustl.edu 37 X 102968863 102968863 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_182541.2 +1 validated p.F148L 0.000 101 0% 125 44.8% 0 - unknown(0) - - NULL LOC100287881 100287881 genome.wustl.edu 37 X 102979598 102979598 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_002343835.1 +1 model p.Q71H 0.000 124 0% 154 44.2% 0 - - - - NULL IL1RAPL2 26280 genome.wustl.edu 37 X 104440353 104440353 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017416.1 +1 reviewed p.R93S 0.996 131 0% 179 42.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00409,superfamily_Immunoglobulin IL1RAPL2 26280 genome.wustl.edu 37 X 104984661 104984661 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017416.1 +1 reviewed p.A342V 1.000 126 0% 140 36.4% 0 - probably_damaging(0.986) tolerated(0.07) deleterious(0.754) HMMSmart_SM00409,superfamily_Immunoglobulin NRK 203447 genome.wustl.edu 37 X 105150432 105150432 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_198465.2 +1 validated p.E291K 1.000 196 0% 246 22.4% 0 - probably_damaging(0.959) tolerated(0.11) deleterious(0.674) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase NRK 203447 genome.wustl.edu 37 X 105156705 105156705 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_198465.2 +1 validated p.I769M 0.993 115 0% 115 44.3% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) superfamily_p53-like transcription factors NRK 203447 genome.wustl.edu 37 X 105178434 105178434 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_198465.2 +1 validated p.I1166T 0.823 252 0% 338 45.9% 0 - probably_damaging(0.959) deleterious(0.02) deleterious(0.786) NULL MUM1L1 139221 genome.wustl.edu 37 X 105449764 105449764 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000337685 +1 known p.E113D 0.002 166 0% 241 41.9% 0 - benign(0.026) tolerated(0.4) neutral(0.017) NULL LOC644504 644504 genome.wustl.edu 37 X 105570846 105570846 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_001128075.2 +1 model p.R75Q 0.999 100 0% 132 42.4% 0 - - - - HMMPfam_CHGN,superfamily_Nucleotide-diphospho-sugar transferases CXorf57 55086 genome.wustl.edu 37 X 105868419 105868419 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018015.5 +1 validated p.L296I 0.987 398 0% 520 40.2% 0 - possibly_damaging(0.829) tolerated(0.7) neutral(0.317) superfamily_Nucleic acid-binding proteins CXorf57 55086 genome.wustl.edu 37 X 105881243 105881243 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000416885 +1 known p.F554L 0.000 24 0% 21 61.9% 0 - unknown(0) - - NULL CXorf57 55086 genome.wustl.edu 37 X 105905503 105905503 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018015.5 +1 validated p.R746Q 0.211 184 0% 220 38.6% 0 - probably_damaging(0.999) tolerated(0.14) deleterious(0.740) NULL RNF128 79589 genome.wustl.edu 37 X 106016208 106016208 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_194463.1 +1 reviewed p.Q184K 1.000 431 0% 483 28.2% 0 - benign(0.005) tolerated(0.36) neutral(0.020) superfamily_Transferrin receptor ectodomain apical domain TBC1D8B 54885 genome.wustl.edu 37 X 106083903 106083903 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017752.2 +1 validated p.A503V 1.000 118 0% 153 43.8% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_TBC,HMMSmart_SM00164,superfamily_Ypt/Rab-GAP domain of gyp1p TBC1D8B 54885 genome.wustl.edu 37 X 106117097 106117097 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017752.2 +1 validated p.E1089* 1.000 89 0% 91 47.3% 0 - - - - NULL CXorf41 139212 genome.wustl.edu 37 X 106462194 106462194 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_173494.1 +1 validated p.I109 0.779 246 0.4% 334 37.1% 0 - - - - NULL PRPS1 5631 genome.wustl.edu 37 X 106890932 106890932 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002764.3 +1 reviewed p.E267 1.000 248 0% 338 42% 51 0% - - - superfamily_PRTase-like TSC22D3 1831 genome.wustl.edu 37 X 107018368 107018368 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_198057.2 -1 reviewed p.I94 0.999 127 0% 207 49.8% 3 33.3% - - - NULL MID2 11043 genome.wustl.edu 37 X 107084341 107084341 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_012216.3 +1 reviewed p.D149G 1.000 44 0% 60 53.3% 1 0% benign(0.184) deleterious(0.02) neutral(0.400) HMMSmart_SM00336 MID2 11043 genome.wustl.edu 37 X 107169331 107169331 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_012216.3 +1 reviewed p.P535 0.998 98 0% 107 43% 0 - - - - NULL VSIG1 340547 genome.wustl.edu 37 X 107301384 107301384 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_182607.4 +1 reviewed p.S56P 0.002 307 0% 383 46.5% 1 0% possibly_damaging(0.774) tolerated(0.16) neutral(0.348) HMMSmart_IG,HMMPfam_V-set,superfamily_SSF48726 COL4A6 1288 genome.wustl.edu 37 X 107413943 107413943 + Missense_Mutation SNP A A T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001847.2 -1 reviewed p.F1131Y 0.206 206 0% 251 21.5% 0 - possibly_damaging(0.642) tolerated(1) neutral(0.225) NULL ACSL4 2182 genome.wustl.edu 37 X 108902742 108902742 + Splice_Site SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_022977.2 -1 reviewed e13-2 1.000 222 0% 276 43.5% 0 - - - - - ACSL4 2182 genome.wustl.edu 37 X 108926474 108926474 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_022977.2 -1 reviewed p.K81T 1.000 374 0% 490 42.9% 2 0% probably_damaging(0.986) tolerated(0.1) deleterious(0.721) superfamily_Acetyl-CoA synthetase-like PAK3 5063 genome.wustl.edu 37 X 110366480 110366480 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001128168.1 +1 reviewed p.S50Y 1.000 230 0% 301 45.8% 1 0% possibly_damaging(0.609) tolerated(0.07) deleterious(0.530) NULL CAPN6 827 genome.wustl.edu 37 X 110507060 110507060 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014289.3 -1 reviewed p.E35D 1.000 407 0% 551 46.6% 65 0% benign(0.158) tolerated(0.52) neutral(0.022) HMMPfam_Peptidase_C2,HMMSmart_CysPc,superfamily_SSF54001 DCX 1641 genome.wustl.edu 37 X 110644244 110644244 + Missense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000555.2 -1 reviewed p.K308Q 1.000 142 0% 194 18% 0 - possibly_damaging(0.948) deleterious(0.01) deleterious(0.796) HMMPfam_DCX,HMMSmart_SM00537,superfamily_Doublecortin (DC) ALG13 79868 genome.wustl.edu 37 X 110996023 110996023 + Nonsense_Mutation SNP A A T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000394780 +1 known p.K980* 1.000 379 0% 435 45.7% 7 0% - - - NULL TRPC5 7224 genome.wustl.edu 37 X 111020172 111020172 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_012471.2 -1 reviewed p.R764I 1.000 35 0% 47 40.4% 0 - probably_damaging(0.956) deleterious(0) deleterious(0.844) NULL TRPC5 7224 genome.wustl.edu 37 X 111090573 111090573 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_012471.2 -1 reviewed p.S490L 1.000 139 0% 211 45.5% 0 - probably_damaging(0.989) tolerated(0.32) neutral(0.464) HMMPfam_Ion_trans TRPC5 7224 genome.wustl.edu 37 X 111195456 111195456 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_012471.2 -1 reviewed p.C65R 1.000 90 0% 118 18.6% 0 - probably_damaging(1) deleterious(0.03) deleterious(0.865) superfamily_Ankyrin repeat MIR1912 100302144 genome.wustl.edu 37 X 113886072 113886072 + RNA SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000410389 +1 known NULL 0.989 219 0% 253 43.1% 0 - - - - - HTR2C 3358 genome.wustl.edu 37 X 114141923 114141923 + Nonsense_Mutation SNP T T G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000868.2 +1 reviewed p.L441* 0.898 160 0% 180 38.9% 0 - - - - NULL IL13RA2 3598 genome.wustl.edu 37 X 114250258 114250258 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000640.2 -1 reviewed p.R74Q 0.992 359 0% 475 45.1% 0 - probably_damaging(0.995) tolerated(0.39) deleterious(0.474) superfamily_FN_III-like LRCH2 57631 genome.wustl.edu 37 X 114400443 114400443 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020871.3 -1 validated p.D387Y 1.000 338 0% 439 41% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL RBMXL3 139804 genome.wustl.edu 37 X 114424163 114424163 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001145346.1 +1 validated p.F53 0.996 70 0% 61 42.6% 0 - - - - HMMPfam_RRM_1,HMMSmart_RRM,superfamily_SSF54928 RBMXL3 139804 genome.wustl.edu 37 X 114425829 114425829 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001145346.1 +1 validated p.N609H 0.929 46 0% 59 52.5% 0 - benign(0.095) deleterious(0) neutral(0.452) NULL LOC642357 642357 genome.wustl.edu 37 X 114937792 114937792 + RNA SNP T T G rs189426641 by1000genomes TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XR_016681.3 +1 model NULL 1.000 118 0% 206 44.2% 0 - - - - - KLHL13 90293 genome.wustl.edu 37 X 117043931 117043931 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_033495.3 -1 reviewed p.L233F 1.000 53 0% 72 41.7% 15 6.6% benign(0.04) deleterious(0.04) neutral(0.351) HMMPfam_BACK WDR44 54521 genome.wustl.edu 37 X 117582934 117582934 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_019045.4 +1 reviewed p.R909I 1.000 106 0% 112 33.9% 0 - benign(0.045) deleterious(0.04) neutral(0.351) NULL DOCK11 139818 genome.wustl.edu 37 X 117788651 117788651 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_144658.3 +1 validated p.E1594D 1.000 153 0% 184 23.4% 1 0% benign(0.318) tolerated(0.11) neutral(0.371) NULL DOCK11 139818 genome.wustl.edu 37 X 117805046 117805046 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_144658.3 +1 validated p.E1713* 1.000 388 0% 405 40.5% 0 - - - - NULL IL13RA1 3597 genome.wustl.edu 37 X 117895259 117895259 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000371642 +1 known p.F279L 0.028 220 0% 235 40.9% 0 - probably_damaging(0.965) - - NULL LOC727838 727838 genome.wustl.edu 37 X 118207814 118207814 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_002343842.1 +1 model p.A198V 0.000 24 0% 32 40.6% 0 - - - - NULL ENSG00000248857 0 genome.wustl.edu 37 X 118221377 118221377 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000440399 -1 known p.E679* 0.000 66 0% 66 25.8% 0 - probably_damaging(0.991) deleterious(0.05) deleterious(0.789) NULL KIAA1210 57481 genome.wustl.edu 37 X 118238966 118238966 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_020721.1 -1 validated p.T353A 0.002 170 0% 230 40.9% 0 - benign(0.265) - - NULL PGRMC1 10857 genome.wustl.edu 37 X 118370540 118370540 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006667.3 +1 reviewed p.D72N 1.000 4 0.000 14 0.500 74 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cyt-b5,superfamily_Cytochrome b5-like heme/steroid binding domain SLC25A43 203427 genome.wustl.edu 37 X 118540640 118540640 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_145305.2 +1 reviewed p.R165* 1.000 186 0% 222 44.1% 0 - - - - superfamily_Mitochondrial carrier,HMMPfam_Mito_carr UPF3B 65109 genome.wustl.edu 37 X 118977250 118977250 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_080632.1 -1 reviewed p.K162E 1.000 675 0% 784 19.5% 1 0% benign(0.172) tolerated(1) neutral(0.015) HMMPfam_Smg4_UPF3 UPF3B 65109 genome.wustl.edu 37 X 118979167 118979167 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_080632.1 -1 reviewed p.D155N 1.000 402 0.2% 472 42.2% 0 - benign(0.099) deleterious(0.04) neutral(0.356) HMMPfam_Smg4_UPF3 RHOXF1 158800 genome.wustl.edu 37 X 119249588 119249588 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_139282.1 -1 provisional p.R62H 0.000 12 0% 21 42.9% 0 - benign(0.008) deleterious(0) neutral(0.445) NULL FAM70A 55026 genome.wustl.edu 37 X 119410874 119410874 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017938.3 -1 validated p.E205K 1.000 150 0% 205 42.4% 1 0% probably_damaging(0.99) deleterious(0.01) deleterious(0.847) NULL FAM70A 55026 genome.wustl.edu 37 X 119419526 119419526 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017938.3 -1 validated p.S150F 1.000 265 0% 304 36.5% 0 - benign(0.09) deleterious(0.03) neutral(0.371) NULL ATP1B4 23439 genome.wustl.edu 37 X 119500468 119500468 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001142447.2 +1 reviewed p.S51L 0.001 281 0% 274 44.5% 0 - benign(0) tolerated(0.13) neutral(0.253) NULL CUL4B 8450 genome.wustl.edu 37 X 119672046 119672046 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003588.3 -1 reviewed p.T642I 1.000 226 0% 296 40.5% 12 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cullin,HMMSmart_SM00182,superfamily_Cullin homology domain CUL4B 8450 genome.wustl.edu 37 X 119677973 119677973 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003588.3 -1 reviewed p.R408K 1.000 318 0% 315 41.6% 4 0% benign(0.001) tolerated(0.33) neutral(0.024) HMMPfam_Cullin,superfamily_Cullin repeat CUL4B 8450 genome.wustl.edu 37 X 119691816 119691816 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003588.3 -1 reviewed p.S230I 1.000 605 0% 820 43.2% 3 0% possibly_damaging(0.877) deleterious(0.01) deleterious(0.747) HMMPfam_Cullin,superfamily_Cullin repeat CUL4B 8450 genome.wustl.edu 37 X 119694270 119694270 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003588.3 -1 reviewed p.S93L 1.000 129 0% 104 43.3% 27 0% benign(0.002) tolerated(0.12) neutral(0.261) NULL GLUD2 2747 genome.wustl.edu 37 X 120182230 120182230 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_012084.3 +1 reviewed p.R231Q 0.934 204 0% 218 43.1% 6 100% probably_damaging(0.998) tolerated(0.09) deleterious(0.771) HMMPfam_ELFV_dehydrog_N,superfamily_SSF53223 GLUD2 2747 genome.wustl.edu 37 X 120182503 120182503 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_012084.3 +1 reviewed p.R322H 0.944 757 0.1% 823 41.7% 21 0% benign(0.172) deleterious(0.01) neutral(0.421) HMMPfam_ELFV_dehydrog,superfamily_NAD(P)-bd GLUD2 2747 genome.wustl.edu 37 X 120182660 120182660 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_012084.3 +1 reviewed p.V374 0.917 318 0% 370 12.4% 4 75% - - - HMMPfam_ELFV_dehydrog,superfamily_NAD(P)-bd GRIA3 2892 genome.wustl.edu 37 X 122561851 122561851 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000264357 +1 known p.S646Y 1.000 346 0% 472 44.3% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMPfam_Lig_chan,HMMSmart_SM00079,superfamily_Periplasmic binding protein-like II THOC2 57187 genome.wustl.edu 37 X 122747998 122747998 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001081550.1 -1 validated p.E1452* 1.000 517 0% 660 40.9% 9 0% - - - NULL THOC2 57187 genome.wustl.edu 37 X 122758451 122758451 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001081550.1 -1 validated p.L1043I 1.000 348 0% 380 40% 16 0% probably_damaging(0.968) deleterious(0) deleterious(0.855) NULL THOC2 57187 genome.wustl.edu 37 X 122758465 122758465 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001081550.1 -1 validated p.R1038Q 1.000 373 0% 436 17% 11 54.5% possibly_damaging(0.922) deleterious(0) deleterious(0.816) NULL THOC2 57187 genome.wustl.edu 37 X 122779199 122779199 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001081550.1 -1 validated p.D472Y 1.000 665 0.2% 708 43.1% 10 0% benign(0.132) deleterious(0.04) neutral(0.360) NULL XIAP 331 genome.wustl.edu 37 X 123025126 123025126 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001167.2 +1 reviewed p.I339T 1.000 182 0% 246 43.1% 6 100% benign(0.31) deleterious(0) deleterious(0.541) superfamily_SSF57924 STAG2 10735 genome.wustl.edu 37 X 123176489 123176489 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001042749.1 +1 validated p.F152 1.000 224 0% 294 46.6% 34 0% - - - NULL STAG2 10735 genome.wustl.edu 37 X 123200073 123200073 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001042749.1 +1 validated p.L715 0.012 120 0% 125 38.4% 10 0% - - - superfamily_ARM-type_fold ODZ1 10178 genome.wustl.edu 37 X 123514604 123514604 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014253.3 -1 reviewed p.A2654T 0.993 282 0% 455 45.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ODZ1 10178 genome.wustl.edu 37 X 123615582 123615582 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014253.3 -1 reviewed p.G1310C 1.000 51 0% 54 53.7% 0 - probably_damaging(0.999) deleterious(0.03) deleterious(0.855) superfamily_SSF101898 ODZ1 10178 genome.wustl.edu 37 X 124028191 124028191 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_014253.3 -1 reviewed p.F163L 1.000 298 0% 362 42% 0 - benign(0.001) tolerated(0.53) neutral(0.007) HMMPfam_Ten_N DCAF12L2 340578 genome.wustl.edu 37 X 125298868 125298868 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001013628.2 -1 reviewed p.R347Q 0.567 33 0% 27 48.1% 2 0% benign(0.333) deleterious(0.03) deleterious(0.469) HMMSmart_WD40,superfamily_WD40_like OCRL 4952 genome.wustl.edu 37 X 128710312 128710312 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000276.3 +1 reviewed p.S633Y 1.000 196 0% 241 33.2% 11 0% benign(0.141) tolerated(0.19) neutral(0.061) NULL OCRL 4952 genome.wustl.edu 37 X 128721050 128721050 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000276.3 +1 reviewed p.E737 1.000 214 0% 256 11.3% 2 50% - - - HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP ZDHHC9 51114 genome.wustl.edu 37 X 128947682 128947682 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001008222.2 -1 reviewed p.F215L 1.000 242 0% 259 42.9% 14 0% benign(0.119) deleterious(0.04) neutral(0.358) NULL UTP14A 10813 genome.wustl.edu 37 X 129059938 129059938 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006649.3 +1 reviewed p.A598D 1.000 413 0% 510 42.4% 9 88.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Utp14 UTP14A 10813 genome.wustl.edu 37 X 129063378 129063378 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006649.3 +1 reviewed p.G704* 1.000 232 0% 277 42.6% 7 0% - - - HMMPfam_Utp14 BCORL1 63035 genome.wustl.edu 37 X 129148976 129148976 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_021946.3 +1 reviewed p.R743H 1.000 71 0% 96 43.8% 3 0% benign(0.288) deleterious(0) deleterious(0.533) NULL BCORL1 63035 genome.wustl.edu 37 X 129156885 129156885 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000441294 +1 known p.E643K 1.000 294 0% 354 42.7% 2 0% - - - NULL AIFM1 9131 genome.wustl.edu 37 X 129273774 129273774 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004208.3 -1 reviewed p.R285I 1.000 252 0% 328 27.4% 22 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pyr_redox_2,superfamily_FAD/NAD(P)-binding domain AIFM1 9131 genome.wustl.edu 37 X 129289228 129289228 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_145812.2 -1 reviewed p.R47I 1.000 222 0% 341 14.4% 0 - possibly_damaging(0.538) deleterious(0.01) deleterious(0.588) NULL ZNF280C 55609 genome.wustl.edu 37 X 129349999 129349999 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017666.4 -1 validated p.S535Y 1.000 255 0% 349 45% 1 0% benign(0.027) deleterious(0.01) neutral(0.407) NULL ZNF280C 55609 genome.wustl.edu 37 X 129361732 129361732 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017666.4 -1 validated p.S391* 1.000 388 0% 455 39.8% 2 0% - - - PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355 SLC25A14 9016 genome.wustl.edu 37 X 129492670 129492670 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003951.2 +1 reviewed p.I185 0.930 271 0% 329 41.9% 3 0% - - - superfamily_Mitochondrial carrier,HMMPfam_Mito_carr ARHGAP36 158763 genome.wustl.edu 37 X 130218897 130218897 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_144967.3 +1 validated p.E272* 1.000 150 0% 190 39.5% 0 - - - - HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP MST4 51765 genome.wustl.edu 37 X 131207098 131207098 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_016542.3 +1 reviewed p.K401N 1.000 68 0% 100 15% 0 - benign(0.001) tolerated(0.45) neutral(0.012) NULL FRMD7 90167 genome.wustl.edu 37 X 131234720 131234720 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_194277.2 -1 reviewed p.F28L 1.000 167 0% 226 26.1% 0 - benign(0.203) tolerated(0.51) neutral(0.028) HMMPfam_FERM_N,HMMSmart_B41,superfamily_SSF54236 FRMD7 90167 genome.wustl.edu 37 X 131261831 131261831 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_194277.2 -1 reviewed p.K14 1.000 203 0% 228 36.4% 0 - - - - HMMPfam_FERM_N,HMMSmart_B41,superfamily_SSF54236 MBNL3 55796 genome.wustl.edu 37 X 131520813 131520813 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_018388.3 -1 reviewed p.L266 1.000 264 0% 389 43.7% 7 71.4% - - - NULL USP26 83844 genome.wustl.edu 37 X 132159590 132159590 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_031907.1 -1 reviewed p.E887* 0.975 201 0% 253 42.3% 0 - - - - NULL USP26 83844 genome.wustl.edu 37 X 132162116 132162116 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_031907.1 -1 reviewed p.G45* 0.033 148 0% 177 46.9% 0 - - - - NULL GPC4 2239 genome.wustl.edu 37 X 132458185 132458185 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001448.2 -1 reviewed p.S233R 0.961 69 0% 81 50.6% 69 0% benign(0.001) tolerated(1) - HMMPfam_Glypican GPC3 2719 genome.wustl.edu 37 X 132888172 132888172 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004484.3 -1 reviewed p.K123N 1.000 470 0.2% 468 44.2% 0 - benign(0.429) deleterious(0.03) deleterious(0.504) HMMPfam_Glypican GPC3 2719 genome.wustl.edu 37 X 133119363 133119363 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004484.3 -1 reviewed p.V38 1.000 23 0% 35 57.1% 0 - - - - HMMPfam_Glypican CCDC160 347475 genome.wustl.edu 37 X 133379032 133379032 + Missense_Mutation SNP T T A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001101357.1 +1 provisional p.F68I 0.005 46 0% 59 40.7% 0 - benign(0.067) tolerated(0.4) neutral(0.021) NULL PHF6 84295 genome.wustl.edu 37 X 133527979 133527979 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001015877.1 +1 reviewed p.E139K 1.000 204 0.5% 233 51.9% 4 100% benign(0.011) tolerated(0.18) neutral(0.057) NULL FAM122B 159090 genome.wustl.edu 37 X 133927885 133927885 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_145284.5 -1 validated p.T46I 0.951 372 0% 349 39.3% 9 0% possibly_damaging(0.487) tolerated(0.37) neutral(0.181) NULL LOC100128949 100128949 genome.wustl.edu 37 X 134156053 134156053 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_001720075.2 +1 model p.A114 0.000 16 0% 26 46.2% 39 0% - - - NULL FAM127C 441518 genome.wustl.edu 37 X 134156309 134156309 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001078173.1 -1 validated p.D61N 0.930 77 0% 108 45.4% 55 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL DDX26B 203522 genome.wustl.edu 37 X 134703353 134703353 + Silent SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_182540.4 +1 validated p.L428 0.992 265 0% 313 44.4% 0 - - - - NULL LOC644717 644717 genome.wustl.edu 37 X 134812059 134812059 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 XM_002343850.1 -1 model p.K126N 0.022 142 0% 173 42.2% 0 - - - - NULL SLC9A6 10479 genome.wustl.edu 37 X 135084305 135084305 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001042537.1 +1 reviewed p.V278I 1.000 627 0% 742 38.5% 11 0% possibly_damaging(0.5) tolerated(0.05) deleterious(0.512) HMMPfam_Na_H_Exchanger FHL1 2273 genome.wustl.edu 37 X 135292106 135292106 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000345434 +1 known p.A322V 1.000 188 0% 233 40.3% 4 0% possibly_damaging(0.775) deleterious(0) deleterious(0.733) NULL GPR112 139378 genome.wustl.edu 37 X 135405289 135405289 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_153834.3 +1 reviewed p.R141 0.094 274 0% 311 43.7% 0 - - - - superfamily_ConA_like_lec_gl GPR112 139378 genome.wustl.edu 37 X 135426670 135426670 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_153834.3 +1 reviewed p.L269I 0.000 318 0% 389 46% 0 - benign(0.231) deleterious(0.04) neutral(0.372) NULL GPR112 139378 genome.wustl.edu 37 X 135429707 135429707 + Missense_Mutation SNP A A T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_153834.3 +1 reviewed p.K1281M 0.000 101 0% 134 42.5% 0 - probably_damaging(0.956) deleterious(0.03) deleterious(0.764) NULL GPR112 139378 genome.wustl.edu 37 X 135445720 135445720 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_153834.3 +1 reviewed p.K2454N 0.999 251 0% 353 46.7% 0 - benign(0.306) deleterious(0) deleterious(0.540) NULL BRS3 680 genome.wustl.edu 37 X 135574296 135574296 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001727.1 +1 validated p.S321N 1.000 360 0% 482 45.2% 0 - probably_damaging(0.979) tolerated(0.16) deleterious(0.481) HMMPfam_7tm_1,superfamily_SSF81321 RBMX 27316 genome.wustl.edu 37 X 135958688 135958688 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002139.3 -1 reviewed p.R172H 1.000 245 0% 335 40% 131 0% probably_damaging(1) tolerated(0.14) deleterious(0.750) NULL GPR101 83550 genome.wustl.edu 37 X 136112390 136112390 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_054021.1 -1 validated p.D482Y 0.975 183 0% 263 40.3% 0 - possibly_damaging(0.822) deleterious(0) deleterious(0.756) superfamily_Family A G protein-coupled receptor-like GPR101 83550 genome.wustl.edu 37 X 136112631 136112631 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_054021.1 -1 validated p.I401 1.000 192 0% 224 44.2% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ZIC3 7547 genome.wustl.edu 37 X 136649605 136649605 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003413.3 +1 reviewed p.S252L 1.000 16 0% 20 55% 0 - benign(0.02) deleterious(0.03) neutral(0.365) NULL ZIC3 7547 genome.wustl.edu 37 X 136649872 136649872 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003413.3 +1 reviewed p.R341H 1.000 18 0% 21 47.6% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 F9 2158 genome.wustl.edu 37 X 138643958 138643958 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000133.3 +1 reviewed p.L372I 0.633 123 0% 143 43.4% 0 - possibly_damaging(0.722) tolerated(0.19) neutral(0.311) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases MCF2 4168 genome.wustl.edu 37 X 138708879 138708879 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001099855.1 -1 reviewed p.L219M 0.998 226 0% 314 10.8% 0 - probably_damaging(0.982) deleterious(0.01) deleterious(0.832) superfamily_Spectrin MCF2 4168 genome.wustl.edu 37 X 138711991 138711991 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001099855.1 -1 reviewed p.F161V 1.000 223 0% 292 47.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ATP11C 286410 genome.wustl.edu 37 X 138828014 138828014 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_173694.4 -1 validated p.K947R 1.000 94 0% 119 31.9% 5 0% benign(0.001) tolerated(0.3) neutral(0.029) NULL ATP11C 286410 genome.wustl.edu 37 X 138864759 138864759 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000422228 -1 known p.S188L 1.000 275 0.4% 389 49.4% 0 - - - - superfamily_Metal cation-transporting ATPase ATP-binding domain N MAGEC3 139081 genome.wustl.edu 37 X 140969295 140969295 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_138702.1 +1 reviewed p.A208T 0.000 236 0% 277 45.1% 0 - unknown(0) tolerated(0.06) - HMMPfam_MAGE MAGEC3 139081 genome.wustl.edu 37 X 140984967 140984967 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_138702.1 +1 reviewed p.E475* 0.001 180 0% 238 42.9% 0 - - - - HMMPfam_MAGE MAGEC1 9947 genome.wustl.edu 37 X 140993461 140993461 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005462.4 +1 reviewed p.D91N 0.938 131 0% 161 41.6% 0 - unknown(0) tolerated(0.22) - NULL MAGEC1 9947 genome.wustl.edu 37 X 140996466 140996466 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005462.4 +1 reviewed p.K1092N 0.000 141 0% 183 46.4% 0 - benign(0) tolerated(1) - NULL SLITRK4 139065 genome.wustl.edu 37 X 142716414 142716414 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_173078.3 -1 reviewed p.I837 0.879 158 0% 160 50% 1 0% - - - NULL SLITRK4 139065 genome.wustl.edu 37 X 142717776 142717776 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_173078.3 -1 reviewed p.H383 0.762 287 0% 318 46.5% 0 - - - - superfamily_L domain-like SLITRK4 139065 genome.wustl.edu 37 X 142718717 142718717 + Missense_Mutation SNP A A C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_173078.3 -1 reviewed p.F70V 0.998 24 0% 47 48.9% 0 - benign(0.001) tolerated(0.29) neutral(0.029) superfamily_L domain-like CXorf1 9142 genome.wustl.edu 37 X 144909266 144909266 + Missense_Mutation SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004709.2 +1 validated p.I24T 0.000 202 0% 262 43.5% 0 - benign(0.046) - - NULL AFF2 2334 genome.wustl.edu 37 X 147743947 147743947 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002025.3 +1 reviewed p.I233 1.000 107 0% 123 41.5% 0 - - - - HMMPfam_AF-4 IDS 3423 genome.wustl.edu 37 X 148568513 148568513 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000202.5 -1 reviewed p.E375K 0.001 129 0% 159 39.6% 37 81% benign(0) tolerated(0.55) neutral(0.007) superfamily_Alkaline phosphatase-like CXorf40A 91966 genome.wustl.edu 37 X 148627414 148627414 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_178124.4 +1 validated p.R80 0.093 181 0% 250 36% 26 0% - - - NULL CXorf40B 541578 genome.wustl.edu 37 X 149101855 149101855 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001013845.1 -1 validated p.R80 0.941 507 0% 670 13.3% 116 0% - - - NULL MTM1 4534 genome.wustl.edu 37 X 149809883 149809883 + Nonsense_Mutation SNP C C T rs132630306 TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000252.2 +1 reviewed p.R224* 0.973 169 0% 292 43.5% 4 0% - - - HMMPfam_Myotub-related,superfamily_SSF52799 MTM1 4534 genome.wustl.edu 37 X 149814235 149814235 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000252.2 +1 reviewed p.R253Q 0.999 234 0% 387 40.8% 3 0% possibly_damaging(0.905) deleterious(0.04) deleterious(0.708) HMMPfam_Myotub-related,superfamily_SSF52799 MTMR1 8776 genome.wustl.edu 37 X 149905241 149905241 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_003828.2 +1 reviewed p.E411* 1.000 132 0% 141 36.2% 20 0% - - - HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II GPR50 9248 genome.wustl.edu 37 X 150348965 150348965 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004224.3 +1 reviewed p.E304* 1.000 121 0% 123 44.7% 0 - - - - superfamily_Family A G protein-coupled receptor-like GPR50 9248 genome.wustl.edu 37 X 150349094 150349094 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004224.3 +1 reviewed p.R347C 0.000 106 0% 153 51.6% 0 - possibly_damaging(0.909) deleterious(0) deleterious(0.806) NULL GPR50 9248 genome.wustl.edu 37 X 150349744 150349744 + Silent SNP G G A rs187995722 by1000genomes TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004224.3 +1 reviewed p.S563 0.021 26 0% 46 41.3% 0 - - - - NULL PASD1 139135 genome.wustl.edu 37 X 150832809 150832809 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_173493.2 +1 reviewed p.A354T 0.000 57 1.8% 67 58.2% 0 - benign(0) tolerated(0.59) neutral(0.004) NULL PASD1 139135 genome.wustl.edu 37 X 150840747 150840747 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_173493.2 +1 reviewed p.Q510H 0.018 188 0% 164 43.9% 0 - unknown(0) deleterious(0) - NULL MAGEA4 4103 genome.wustl.edu 37 X 151092939 151092939 + Missense_Mutation SNP C C T rs190319017 by1000genomes TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001011548.1 +1 reviewed p.A268V 0.000 128 0% 193 42.5% 0 - benign(0.117) tolerated(0.07) neutral(0.329) HMMPfam_MAGE GABRE 2564 genome.wustl.edu 37 X 151123939 151123939 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004961.3 -1 reviewed p.I346 0.984 178 0.6% 236 46.6% 0 - - - - HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM GABRE 2564 genome.wustl.edu 37 X 151124009 151124009 + Missense_Mutation SNP A A G novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004961.3 -1 reviewed p.L323S 0.942 154 0% 196 38.3% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM GABRE 2564 genome.wustl.edu 37 X 151138730 151138730 + Silent SNP T T C novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_004961.3 -1 reviewed p.K67 0.000 155 0% 194 23.7% 0 - - - - NULL TREX2 11219 genome.wustl.edu 37 X 152710647 152710647 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_080701.3 -1 reviewed p.S81N 1.000 18 0% 29 41.4% 1 0% benign(0.056) tolerated(0.52) neutral(0.012) HMMSmart_EXOIII,superfamily_RNaseH_fold,HMMPfam_Exonuc_X-T BGN 633 genome.wustl.edu 37 X 152771381 152771381 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001711.4 +1 reviewed p.R138W 1.000 33 3% 41 48.8% 76 0% probably_damaging(0.996) deleterious(0.02) deleterious(0.845) superfamily_SSF52058 ATP2B3 492 genome.wustl.edu 37 X 152818575 152818575 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001001344.2 +1 reviewed p.E636K 1.000 47 0% 66 45.5% 0 - probably_damaging(0.989) deleterious(0.01) deleterious(0.845) HMMPfam_Hydrolase,superfamily_HAD-like,superfamily_Metal cation-transporting ATPase ATP-binding domain N,superfamily_Calcium ATPase transmembrane domain M ATP2B3 492 genome.wustl.edu 37 X 152826285 152826285 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001001344.2 +1 reviewed p.F997 0.990 303 0% 416 42.3% 3 0% - - - HMMPfam_Cation_ATPase_C,superfamily_Calcium ATPase transmembrane domain M PLXNB3 5365 genome.wustl.edu 37 X 153032363 153032363 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_005393.2 +1 reviewed p.L27 0.001 48 0% 57 47.4% 1 0% - - - NULL RENBP 5973 genome.wustl.edu 37 X 153208502 153208502 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_002910.5 -1 reviewed p.I164 0.014 13 0% 22 54.5% 6 0% - - - superfamily_Six-hairpin glycosidases HCFC1 3054 genome.wustl.edu 37 X 153215785 153215785 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 ENST00000444191 -1 known p.R547* 0.272 85 1.2% 127 43.3% 58 3.4% - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III FLNA 2316 genome.wustl.edu 37 X 153586612 153586612 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001110556.1 -1 reviewed p.I1570 0.843 25 0% 39 48.7% 550 0% - - - HMMSmart_SM00557,superfamily_E set domains,HMMPfam_Filamin FLNA 2316 genome.wustl.edu 37 X 153587852 153587852 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001110556.1 -1 reviewed p.R1381M 1.000 193 0% 202 44.1% 334 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00557,superfamily_E set domains,HMMPfam_Filamin RPL10 6134 genome.wustl.edu 37 X 153629057 153629057 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_006013.3 +1 reviewed p.K169N 1.000 231 0% 304 52.6% 1035 0% possibly_damaging(0.455) tolerated(0.21) neutral(0.193) superfamily_Ribosomal protein L10e GDI1 2664 genome.wustl.edu 37 X 153667197 153667197 + Missense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001493.2 +1 reviewed p.F80L 1.000 134 0% 194 38.1% 76 0% benign(0.001) tolerated(0.16) neutral(0.059) HMMPfam_GDI,superfamily_FAD/NAD(P)-binding domain GDI1 2664 genome.wustl.edu 37 X 153670982 153670982 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001493.2 +1 reviewed p.R436H 1.000 131 0% 173 41% 222 0% probably_damaging(0.994) tolerated(0.19) deleterious(0.502) HMMPfam_GDI PLXNA3 55558 genome.wustl.edu 37 X 153698802 153698802 + Silent SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_017514.3 +1 reviewed p.F1668 0.984 40 0% 45 26.7% 56 55.3% - - - superfamily_Rho_GAP,HMMPfam_Plexin_cytopl SLC10A3 8273 genome.wustl.edu 37 X 153716663 153716663 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001142392.1 -1 reviewed p.S206L 1.000 33 0% 40 52.5% 27 0% possibly_damaging(0.474) deleterious(0.01) deleterious(0.562) HMMPfam_SBF FAM3A 60343 genome.wustl.edu 37 X 153735162 153735162 + Missense_Mutation SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_021806.2 -1 validated p.R225W 0.297 66 0% 87 52.9% 98 0% probably_damaging(0.992) deleterious(0) deleterious(0.892) NULL IKBKG 8517 genome.wustl.edu 37 X 153780392 153780392 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001099856.2 +1 reviewed p.Q127* 1.000 37 0% 59 47.5% 3 100% - - - NULL GAB3 139716 genome.wustl.edu 37 X 153944425 153944425 + Silent SNP G G A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001081573.1 -1 reviewed p.F84 0.403 96 0% 122 40.2% 1 0% - - - HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like DKC1 1736 genome.wustl.edu 37 X 153995316 153995316 + Missense_Mutation SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001363.3 +1 reviewed p.G165W 1.000 195 0% 313 19.2% 42 0% probably_damaging(0.992) deleterious(0) deleterious(0.892) HMMPfam_TruB_N,superfamily_PsdUridine_synth_cat_dom F8 2157 genome.wustl.edu 37 X 154088881 154088881 + Silent SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000132.3 -1 reviewed p.V2242 0.663 220 0% 273 12.5% 0 - - - - HMMPfam_F5_F8_type_C,HMMSmart_SM00231,PatternScan_FA58C_1,superfamily_Galactose-binding domain-like F8 2157 genome.wustl.edu 37 X 154091388 154091388 + Missense_Mutation SNP G G A rs137852467 TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000132.3 -1 reviewed p.R2182C 1.000 275 0.4% 361 13% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_F5_F8_type_C,HMMSmart_SM00231,PatternScan_FA58C_2,superfamily_Galactose-binding domain-like F8 2157 genome.wustl.edu 37 X 154132683 154132683 + Silent SNP G G T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000132.3 -1 reviewed p.I1901 0.998 343 0% 429 43.6% 0 - - - - superfamily_Cupredoxins F8 2157 genome.wustl.edu 37 X 154185258 154185258 + Nonsense_Mutation SNP C C A rs137852421 TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_000132.3 -1 reviewed p.E576* 1.000 255 0% 321 44.2% 0 - - - - superfamily_Cupredoxins FUNDC2 65991 genome.wustl.edu 37 X 154261710 154261710 + Missense_Mutation SNP C C T novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_023934.3 +1 validated p.L56F 1.000 200 0% 281 41.3% 52 0% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL CLIC2 1193 genome.wustl.edu 37 X 154508596 154508596 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17Q-01A-11D-A12J-09 TCGA-D1-A17Q-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 01677a4d-e4b8-4e45-a569-2c626894f465 7288592d-5128-4dd3-ac08-8ddb872838c5 NM_001289.4 -1 reviewed p.E142* 0.998 162 0% 161 48.4% 0 - - - - superfamily_Glutathione S-transferase (GST) C-terminal domain