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 AGRN 375790 genome.wustl.edu 37 1 978668 978668 + Silent SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_198576.2 +1 validated p.T478 0.000 79 0% 73 38.4% 271 38.7% - - - HMMSmart_FOLN,superfamily_SSF100895 GABRD 2563 genome.wustl.edu 37 1 1961035 1961035 + Missense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_000815.4 +1 reviewed p.R298H 1.000 56 0% 56 48.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM PIK3CD 5293 genome.wustl.edu 37 1 9778764 9778764 + Missense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_005026.3 +1 validated p.A345T 1.000 68 0% 43 20.9% 5 0% probably_damaging(0.973) deleterious(0.05) deleterious(0.760) HMMPfam_PI3K_C2,HMMSmart_PI3K_C2,superfamily_C2_CaLB VWA5B1 127731 genome.wustl.edu 37 1 20644138 20644138 + Silent SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_001039500.2 +1 validated p.L227 1.000 182 0% 131 35.9% 0 - - - - NULL USP48 84196 genome.wustl.edu 37 1 22078094 22078094 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_032236.5 -1 reviewed p.G227D 1.000 207 0% 206 41.3% 21 19% benign(0.211) tolerated(0.06) neutral(0.343) HMMPfam_UCH,superfamily_Cysteine proteinases HSPG2 3339 genome.wustl.edu 37 1 22172661 22172661 + Missense_Mutation SNP G G T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 ENST00000374695 -1 known p.L2802M 0.755 21 0% 26 38.5% 222 37.3% possibly_damaging(0.612) tolerated(0.21) neutral(0.256) HMMSmart_SM00406,HMMSmart_SM00409,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Immunoglobulin LYPLA2 11313 genome.wustl.edu 37 1 24119706 24119706 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_007260.2 +1 reviewed p.A59V 1.000 43 0% 31 48.4% 188 46.8% benign(0.158) deleterious(0) neutral(0.459) HMMPfam_Abhydrolase_2,superfamily_SSF53474 C1orf201 90529 genome.wustl.edu 37 1 24687368 24687368 + Missense_Mutation SNP G G C novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_178122.3 -1 predicted p.P254A 0.000 77 0% 79 45.6% 17 41.1% benign(0.01) tolerated(0.83) neutral(0.001) NULL RCAN3 11123 genome.wustl.edu 37 1 24861709 24861709 + Missense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_013441.2 +1 validated p.R223H 1.000 118 0% 92 39.1% 26 34.6% probably_damaging(1) tolerated(0.05) deleterious(0.845) HMMPfam_Calcipressin LDLRAP1 26119 genome.wustl.edu 37 1 25893450 25893450 + Silent SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_015627.2 +1 reviewed p.S298 0.002 24 0% 28 32.1% 17 58.8% - - - NULL FAM54B 56181 genome.wustl.edu 37 1 26153281 26153281 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_001099625.1 +1 validated p.R139C 0.997 35 0% 30 46.7% 46 47.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DUF729 EXTL1 2134 genome.wustl.edu 37 1 26360331 26360331 + Missense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_004455.2 +1 reviewed p.A555T 1.000 197 0% 132 15.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Glyco_transf_64,superfamily_SSF53448 DHDDS 79947 genome.wustl.edu 37 1 26774075 26774075 + Missense_Mutation SNP T T C novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_024887.2 +1 validated p.Y156H 1.000 348 0.3% 325 35.1% 21 28.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Prenyltransf,superfamily_Undecaprenyl diphosphate synthase SESN2 83667 genome.wustl.edu 37 1 28607232 28607232 + Silent SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_031459.3 +1 reviewed p.H454 1.000 31 0% 28 46.4% 10 30% - - - HMMPfam_PA26 PUM1 9698 genome.wustl.edu 37 1 31501707 31501707 + Missense_Mutation SNP C C G novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_001020658.1 -1 reviewed p.R123P 1.000 393 0% 401 37.4% 65 53.8% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL HIVEP3 59269 genome.wustl.edu 37 1 42049810 42049810 + Missense_Mutation SNP T T C novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_024503.3 -1 validated p.Y220C 1.000 76 0% 73 34.2% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers EBNA1BP2 10969 genome.wustl.edu 37 1 43636441 43636441 + Missense_Mutation SNP G G T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_006824.2 -1 validated p.L145M 1.000 291 0.3% 272 41.9% 103 37.8% benign(0.062) deleterious(0.01) neutral(0.410) HMMPfam_Ebp2 RNF220 55182 genome.wustl.edu 37 1 44877784 44877784 + Silent SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_018150.2 +1 validated p.R5 1.000 107 0% 86 40.7% 0 - - - - NULL ATPAF1-AS1 374973 genome.wustl.edu 37 1 47138873 47138873 + Silent SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_001145474.1 +1 predicted p.A122 0.007 126 0% 130 41.5% 0 - - - - NULL CYP4A22 284541 genome.wustl.edu 37 1 47614339 47614339 + Missense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_001010969.2 +1 reviewed p.R477H 0.988 177 0.6% 170 40% 1 0% possibly_damaging(0.881) tolerated(0.13) deleterious(0.596) HMMPfam_p450,superfamily_Cytochrome P450 BEND5 79656 genome.wustl.edu 37 1 49227039 49227039 + Silent SNP C C G novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_024603.2 -1 validated p.G110 1.000 419 0% 391 39.6% 3 66.6% - - - NULL CC2D1B 200014 genome.wustl.edu 37 1 52824748 52824748 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_032449.1 -1 validated p.R403Q 1.000 5 0.000 13 0.462 33 66.6% possibly_damaging(0.943) deleterious(0.01) deleterious(0.793) HMMSmart_SM00685 KIAA1107 23285 genome.wustl.edu 37 1 92646246 92646246 + Silent SNP A A G novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_015237.2 +1 validated p.E564 0.340 118 0% 104 45.2% 6 66.6% - - - NULL UBL4B 164153 genome.wustl.edu 37 1 110655663 110655663 + Silent SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_203412.1 +1 validated p.E169 0.001 32 0% 24 41.7% 0 - - - - NULL RHOC 389 genome.wustl.edu 37 1 113245680 113245681 + Frame_Shift_Del DEL GA GA - novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 GA GA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_001042678.1 -1 reviewed p.S73fs 1.000:1.000 - - - - - - - - - HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases TTF2 8458 genome.wustl.edu 37 1 117617938 117617938 + Missense_Mutation SNP T T G novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_003594.3 +1 reviewed p.S244R 0.004 105 0% 98 35.7% 7 42.8% probably_damaging(0.979) deleterious(0.04) deleterious(0.771) NULL TBX15 6913 genome.wustl.edu 37 1 119427539 119427539 + Missense_Mutation SNP A A G novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_152380.2 -1 reviewed p.L436S 1.000 292 0% 244 45.9% 11 63.6% probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL ITGA10 8515 genome.wustl.edu 37 1 145532597 145532599 + In_Frame_Del DEL AGG AGG - novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 AGG AGG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_003637.3 +1 reviewed p.G351in_frame_del 0.975:1.000:1.000 - - - - - - - - - HMMSmart_SM00327,superfamily_vWA-like,superfamily_Integrin alpha N-terminal domain TUFT1 7286 genome.wustl.edu 37 1 151512890 151512890 + Missense_Mutation SNP G G T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_020127.2 +1 validated p.E16D 0.995 184 0% 144 33.3% 30 56.6% probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL INTS3 65123 genome.wustl.edu 37 1 153735774 153735774 + Missense_Mutation SNP A A G novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_023015.3 +1 validated p.T568A 1.000 229 0% 186 36.6% 38 47.3% benign(0.006) tolerated(0.81) neutral(0.001) NULL DENND4B 9909 genome.wustl.edu 37 1 153916683 153916683 + Missense_Mutation SNP T T C novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 ENST00000368646 -1 known p.H8R 0.135 71 0% 49 49% 8 25% - - - NULL SHC1 6464 genome.wustl.edu 37 1 154941903 154941903 + Missense_Mutation SNP G G T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_001130040.1 -1 validated p.L173I 1.000 137 0% 109 28.4% 64 39% possibly_damaging(0.929) tolerated(0.46) neutral(0.388) HMMPfam_PID,HMMSmart_SM00462,superfamily_PH domain-like THBS3 7059 genome.wustl.edu 37 1 155172892 155172892 + Missense_Mutation SNP C C G novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_007112.3 -1 reviewed p.E265Q 1.000 209 0.5% 162 32.7% 16 37.5% benign(0.007) deleterious(0.01) neutral(0.406) NULL GON4L 54856 genome.wustl.edu 37 1 155722367 155722367 + Missense_Mutation SNP C C A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_001037533.1 -1 validated p.G1952W 0.002 51 0% 26 26.9% 15 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SEMA4A 64218 genome.wustl.edu 37 1 156132838 156132838 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_022367.2 +1 provisional p.R363C 1.000 207 0% 198 41.9% 14 42.8% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema CRABP2 1382 genome.wustl.edu 37 1 156670736 156670736 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_001878.2 -1 reviewed p.R60H 1.000 310 0% 275 39.6% 22 36.3% probably_damaging(0.984) deleterious(0.02) deleterious(0.814) HMMPfam_Lipocalin,superfamily_Lipocalins ETV3 2117 genome.wustl.edu 37 1 157095708 157095708 + Missense_Mutation SNP A A G novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_001145312.1 -1 validated p.L155P 1.000 151 0% 136 39.7% 17 47% benign(0.084) deleterious(0.05) neutral(0.351) "superfamily_""Winged helix"" DNA-binding domain" FCRL5 83416 genome.wustl.edu 37 1 157512659 157512659 + Silent SNP G G T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_031281.2 -1 validated p.L371 0.000 101 0% 89 34.8% 2 0% - - - HMMSmart_SM00409,superfamily_Immunoglobulin SPTA1 6708 genome.wustl.edu 37 1 158621212 158621212 + Missense_Mutation SNP G G T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_003126.2 -1 reviewed p.A1141D 1.000 311 0% 281 39.5% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat TAGLN2 8407 genome.wustl.edu 37 1 159889464 159889465 + Frame_Shift_Del DEL CA CA - novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 CA CA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_003564.1 -1 reviewed p.V114fs 1.000:1.000 - - - - - - - - - HMMPfam_CH,HMMSmart_CH,superfamily_Calponin-homology IGSF9 57549 genome.wustl.edu 37 1 159898706 159898706 + Silent SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_001135050.1 -1 validated p.A824 0.000 14 0% 14 35.7% 15 40% - - - NULL C1orf112 55732 genome.wustl.edu 37 1 169798511 169798511 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_018186.2 +1 predicted p.A412V 0.016 523 0% 494 37.7% 23 47.8% benign(0.275) tolerated(0.27) neutral(0.063) NULL C1orf129 80133 genome.wustl.edu 37 1 170961350 170961350 + Silent SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_025063.2 +1 validated p.V358 0.004 311 0% 246 49.6% 0 - - - - NULL PRRC2C 23215 genome.wustl.edu 37 1 171526414 171526414 + Silent SNP A A G novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 ENST00000412837 +1 known p.E790G 1.000 205 0% 160 38.1% 24 58.3% - - - NULL F13B 2165 genome.wustl.edu 37 1 197031986 197031986 + Splice_Site SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_001994.2 -1 reviewed e2+1 1.000 157 0% 131 41.2% 0 - - - - - KIF21B 23046 genome.wustl.edu 37 1 200959404 200959404 + Silent SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_017596.2 -1 provisional p.L964 1.000 60 0% 64 42.2% 0 - - - - superfamily_WD40_like SLC26A9 115019 genome.wustl.edu 37 1 205904924 205904924 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_134325.2 -1 reviewed p.V9M 1.000 352 0% 268 41.8% 0 - possibly_damaging(0.688) tolerated(0.22) neutral(0.288) NULL PLXNA2 5362 genome.wustl.edu 37 1 208200646 208200646 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_025179.3 -1 reviewed p.R1876Q 0.981 88 0% 71 46.5% 5 20% benign(0.123) deleterious(0.01) neutral(0.416) NULL VASH2 79805 genome.wustl.edu 37 1 213134593 213134593 + Missense_Mutation SNP T T C novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_024749.3 +1 validated p.L121P 1.000 195 0% 229 38% 2 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL ANGEL2 90806 genome.wustl.edu 37 1 213170503 213170503 + Missense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_144567.3 -1 validated p.H493Y 0.005 248 0% 199 33.7% 13 53.8% benign(0) deleterious(0.05) neutral(0.345) HMMPfam_Exo_endo_phos,superfamily_DNase I-like PGBD5 79605 genome.wustl.edu 37 1 230468600 230468600 + Silent SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_024554.3 -1 reviewed p.P451 0.007 181 0.6% 159 35.8% 5 40% - - - NULL LYST 1130 genome.wustl.edu 37 1 235966234 235966234 + Missense_Mutation SNP G G T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_000081.2 -1 reviewed p.P1229H 1.000 266 0% 248 14.9% 1 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL HEATR1 55127 genome.wustl.edu 37 1 236718764 236718764 + Silent SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_018072.4 -1 validated p.L1919 1.000 181 0% 150 37.3% 13 30.7% - - - HMMPfam_BP28CT,superfamily_ARM-type_fold KMO 8564 genome.wustl.edu 37 1 241723977 241723977 + Missense_Mutation SNP A A G novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_003679.3 +1 validated p.Y125C 0.797 283 0% 274 40.9% 1 0% probably_damaging(0.986) tolerated(0.09) deleterious(0.731) superfamily_FAD/NAD(P)-binding domain WDR64 128025 genome.wustl.edu 37 1 241946669 241946669 + Silent SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 ENST00000425826 +1 known p.S366L 0.092 173 0% 142 36.6% 0 - - - - HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 KIF26B 55083 genome.wustl.edu 37 1 245530312 245530312 + Silent SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_018012.3 +1 provisional p.Y214 0.607 37 0% 42 28.6% 9 33.3% - - - NULL OR2C3 81472 genome.wustl.edu 37 1 247695138 247695138 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_198074.4 -1 validated p.V226M 0.597 174 0% 139 38.1% 0 - probably_damaging(0.959) deleterious(0) deleterious(0.847) HMMPfam_7tm_1,superfamily_SSF81321 TPO 7173 genome.wustl.edu 37 2 1491661 1491661 + Missense_Mutation SNP A A G novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_000547.5 +1 reviewed p.M556V 0.793 129 0% 91 33% 0 - benign(0.006) tolerated(0.21) neutral(0.044) HMMPfam_An_peroxidase,superfamily_Heme-dependent peroxidases TAF1B 9014 genome.wustl.edu 37 2 9994460 9994460 + Silent SNP T T C novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_005680.2 +1 reviewed p.D103 0.996 330 0% 310 46.8% 5 100% - - - NULL AGBL5 60509 genome.wustl.edu 37 2 27290365 27290365 + Missense_Mutation SNP C C A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_021831.5 +1 validated p.P698H 1.000 93 0% 65 40% 12 41.6% probably_damaging(0.965) deleterious(0) deleterious(0.851) NULL ZNF513 130557 genome.wustl.edu 37 2 27601670 27601670 + Missense_Mutation SNP A A G novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_144631.4 -1 validated p.C155R 1.000 53 0% 52 44.2% 22 22.7% possibly_damaging(0.952) deleterious(0) deleterious(0.840) HMMSmart_SM00355 NRXN1 9378 genome.wustl.edu 37 2 50724801 50724801 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_001135659.1 -1 reviewed p.G890D 1.000 157 0.6% 168 41.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_LamG,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_2 ASB3 51130 genome.wustl.edu 37 2 53941684 53941684 + Frame_Shift_Del DEL C C - novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_016115.3 -1 reviewed p.A273fs 0.000 - - - - - - - - - HMMSmart_SM00248,superfamily_Ankyrin repeat AFTPH 54812 genome.wustl.edu 37 2 64779742 64779742 + Silent SNP T T C novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_203437.2 +1 validated p.D378 0.818 179 0% 162 17.3% 20 35% - - - NULL DGUOK 1716 genome.wustl.edu 37 2 74184306 74184306 + Silent SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_080916.1 +1 reviewed p.L216 0.999 177 0% 139 38.1% 41 17% - - - HMMPfam_dNK,superfamily_P-loop containing nucleoside triphosphate hydrolases C2orf81 388963 genome.wustl.edu 37 2 74642496 74642496 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_001145054.1 -1 predicted p.D243N 0.000 18 0% 23 56.5% 9 44.4% benign(0.014) tolerated(1) neutral(0.001) NULL EIF2AK3 9451 genome.wustl.edu 37 2 88885387 88885387 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_004836.5 -1 reviewed p.R541H 1.000 323 0% 276 39.1% 9 55.5% probably_damaging(1) tolerated(0.08) deleterious(0.800) NULL RPIA 22934 genome.wustl.edu 37 2 89037549 89037549 + Missense_Mutation SNP T T C novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_144563.2 +1 reviewed p.V265A 0.980 407 0% 287 43.2% 84 38% benign(0.001) tolerated(0.51) neutral(0.009) HMMPfam_Rib_5-P_isom_A,superfamily_SSF75445 SNRNP200 23020 genome.wustl.edu 37 2 96943590 96943590 + Silent SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_014014.3 -1 reviewed p.Q1903 1.000 446 0% 337 41.2% 328 45.4% - - - HMMPfam_Sec63,HMMSmart_SM00611 RNF149 284996 genome.wustl.edu 37 2 101911538 101911538 + Missense_Mutation SNP G G T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_173647.3 -1 validated p.T189N 0.997 231 0% 227 46.3% 58 58.6% probably_damaging(0.998) tolerated(0.18) deleterious(0.530) superfamily_SSF52025 RANBP2 5903 genome.wustl.edu 37 2 109380063 109380064 + Frame_Shift_Del DEL CA CA - novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 CA CA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_006267.4 +1 reviewed p.T1025fs 0.941:0.093 - - - - - - - - - NULL PTPN4 5775 genome.wustl.edu 37 2 120712791 120712791 + Silent SNP T T C novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_002830.2 +1 reviewed p.P624 1.000 149 0% 121 52.1% 9 44.4% - - - superfamily_PDZ CNTNAP5 129684 genome.wustl.edu 37 2 125405357 125405357 + Silent SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_130773.2 +1 reviewed p.V632 1.000 66 0% 59 28.8% 0 - - - - superfamily_Fibrinogen_a/b/g_C,superfamily_ConA_like_lec_gl LRP1B 53353 genome.wustl.edu 37 2 141680638 141680638 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_018557.2 -1 validated p.R1072H 0.997 488 0.2% 407 36.9% 0 - probably_damaging(0.973) tolerated(0.05) deleterious(0.760) HMMPfam_Ldl_recept_a,HMMSmart_LDLa,PatternScan_LDLRA_1,superfamily_LDL_rcpt_classA_cys-rich MBD5 55777 genome.wustl.edu 37 2 149247537 149247537 + Missense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_018328.4 +1 reviewed p.E1213K 1.000 137 0.7% 101 40.6% 4 50% unknown(0) deleterious(0) - NULL RIF1 55183 genome.wustl.edu 37 2 152279532 152279535 + Frame_Shift_Del DEL TTTG TTTG - novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 TTTG TTTG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_018151.4 +1 reviewed p.F256fs 1.000:1.000:1.000:0.999 - - - - - - - - - superfamily_ARM repeat NEB 4703 genome.wustl.edu 37 2 152537339 152537339 + Missense_Mutation SNP T T C novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_004543.4 -1 reviewed p.K983E 1.000 442 0% 378 41.5% 0 - probably_damaging(0.978) tolerated(0.2) deleterious(0.469) HMMPfam_Nebulin,HMMSmart_SM00227 TTN 7273 genome.wustl.edu 37 2 179640429 179640429 + Silent SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_133379.3 -1 reviewed p.A2054 0.000 331 0% 310 38.1% 0 - - - - NULL TTN 7273 genome.wustl.edu 37 2 179641295 179641295 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_133379.3 -1 reviewed p.V1766I 0.980 90 0% 76 44.7% 0 - possibly_damaging(0.496) - - HMMPfam_I-set,superfamily_SSF48726 COL3A1 1281 genome.wustl.edu 37 2 189859059 189859059 + Splice_Site SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_000090.3 +1 reviewed e18+1 1.000 170 0% 137 46.7% 0 - - - - - SGOL2 151246 genome.wustl.edu 37 2 201438257 201438259 + In_Frame_Del DEL AAG AAG - novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 AAG AAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_152524.5 +1 validated p.E1064in_frame_del 0.000:0.035:0.317 - - - - - - - - - NULL GPR1 2825 genome.wustl.edu 37 2 207041245 207041245 + Missense_Mutation SNP T T C novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_001098199.1 -1 validated p.R243G 0.969 242 0% 196 38.8% 0 - benign(0.007) deleterious(0.01) neutral(0.406) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like TUBA4A 7277 genome.wustl.edu 37 2 220115497 220115497 + Silent SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_006000.1 -1 reviewed p.R308 0.193 153 0% 157 33.8% 218 50.4% - - - superfamily_Tubulin C-terminal domain-like,HMMPfam_Tubulin_C SLC19A3 80704 genome.wustl.edu 37 2 228560684 228560684 + Missense_Mutation SNP A A G novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_025243.3 -1 reviewed p.Y365H 0.273 125 0% 106 41.5% 0 - probably_damaging(0.992) tolerated(0.54) neutral(0.455) HMMPfam_Folate_carrier,superfamily_MFS_gen_substrate_transporter CXCR7 57007 genome.wustl.edu 37 2 237489993 237489993 + Silent SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_020311.2 +1 reviewed p.T295 0.176 102 0% 100 47% 20 0% - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like PER2 8864 genome.wustl.edu 37 2 239165670 239165670 + Missense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_022817.2 -1 reviewed p.S653L 0.812 76 0% 62 40.3% 16 43.7% benign(0.397) deleterious(0) deleterious(0.572) NULL MYEOV2 150678 genome.wustl.edu 37 2 241069366 241069366 + Missense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_138336.1 -1 validated p.R115C 0.000 73 0% 46 10.9% 0 - unknown(0) - - NULL KIF1A 547 genome.wustl.edu 37 2 241700654 241700654 + Missense_Mutation SNP T T C novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_004321.4 -1 reviewed p.K744E 1.000 124 0% 105 37.1% 0 - possibly_damaging(0.889) tolerated(0.06) deleterious(0.672) NULL ATG4B 23192 genome.wustl.edu 37 2 242608095 242608095 + Missense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_013325.4 +1 reviewed p.A318T 1.000 22 0% 33 42.4% 54 46.2% probably_damaging(0.986) deleterious(0.01) deleterious(0.840) HMMPfam_Peptidase_C54 C3orf20 84077 genome.wustl.edu 37 3 14799019 14799019 + Silent SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_032137.4 +1 validated p.D694 0.342 57 0% 49 46.9% 0 - - - - NULL CAPN7 23473 genome.wustl.edu 37 3 15283703 15283703 + Nonsense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_014296.2 +1 reviewed p.R603* 1.000 349 0% 299 15.1% 15 0% - - - superfamily_Peptidase_C2 SH3BP5 9467 genome.wustl.edu 37 3 15298550 15298550 + Silent SNP G G T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_004844.3 -1 validated p.S320 0.998 154 0% 111 9.9% 31 3.2% - - - NULL SATB1 6304 genome.wustl.edu 37 3 18436007 18436007 + Nonsense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_001131010.1 -1 validated p.R385* 1.000 245 0.4% 228 44.7% 6 0% - - - HMMPfam_CUT ZNF197 10168 genome.wustl.edu 37 3 44684552 44684552 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_006991.3 +1 reviewed p.H644Y 1.000 171 0% 133 36.1% 1 0% possibly_damaging(0.919) deleterious(0) deleterious(0.814) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers TGM4 7047 genome.wustl.edu 37 3 44935129 44935129 + Missense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_003241.3 +1 validated p.G164D 0.916 167 0% 171 41.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF54001 FYCO1 79443 genome.wustl.edu 37 3 46008782 46008782 + Silent SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_024513.2 -1 validated p.L682 0.510 66 0% 43 27.9% 6 33.3% - - - superfamily_Prefoldin UQCRC1 7384 genome.wustl.edu 37 3 48636590 48636590 + Missense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_003365.2 -1 validated p.R472C 1.000 175 0% 144 50% 383 47.7% probably_damaging(0.998) deleterious(0.02) deleterious(0.857) superfamily_LuxS/MPP-like metallohydrolase USP4 7375 genome.wustl.edu 37 3 49348985 49348985 + Silent SNP A A G novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 ENST00000431357 -1 known p.*23Q 1.000 312 0% 285 43.9% 22 36.3% - - - NULL BSN 8927 genome.wustl.edu 37 3 49698457 49698457 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_003458.3 +1 reviewed p.A3060V 0.009 27 0% 25 32% 0 - unknown(0) - - NULL RBM6 10180 genome.wustl.edu 37 3 50005749 50005749 + Silent SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_005777.2 +1 validated p.Q297 1.000 135 0% 103 38.8% 7 57.1% - - - NULL MAPKAPK3 7867 genome.wustl.edu 37 3 50683147 50683147 + Missense_Mutation SNP A A G novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_004635.3 +1 reviewed p.E212G 1.000 265 0% 191 34% 57 29.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase RBM15B 29890 genome.wustl.edu 37 3 51431059 51431059 + Silent SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_013286.3 +1 validated p.D743 1.000 50 0% 60 51.7% 84 48.8% - - - HMMPfam_SPOC,superfamily_SPOC-like TWF2 11344 genome.wustl.edu 37 3 52265167 52265168 + Frame_Shift_Del DEL CT CT - novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 CT CT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_007284.3 -1 reviewed p.E153fs 1.000:1.000 - - - - - - - - - NULL CNTN3 5067 genome.wustl.edu 37 3 74350807 74350807 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_020872.1 -1 validated p.V646I 0.215 440 0% 487 42.5% 0 - benign(0.04) deleterious(0.02) neutral(0.386) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III KIAA1407 57577 genome.wustl.edu 37 3 113684045 113684045 + Missense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_020817.1 -1 predicted p.S923L 0.000 171 0% 162 37% 3 33.3% possibly_damaging(0.873) deleterious(0) deleterious(0.784) NULL KPNA1 3836 genome.wustl.edu 37 3 122152574 122152574 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_002264.3 -1 reviewed p.R395Q 1.000 273 0% 234 45.3% 22 40.9% probably_damaging(0.959) tolerated(0.25) neutral(0.440) HMMPfam_Arm,HMMSmart_SM00185,superfamily_ARM repeat ROPN1B 152015 genome.wustl.edu 37 3 125702136 125702136 + Silent SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_001012337.1 +1 provisional p.T204 1.000 346 0% 286 34.3% 0 - - - - NULL ZXDC 79364 genome.wustl.edu 37 3 126180980 126180980 + Missense_Mutation SNP T T C novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_025112.4 -1 validated p.M509V 0.995 67 0% 51 41.2% 22 50% benign(0) tolerated(0.89) - NULL C3orf25 90288 genome.wustl.edu 37 3 129121406 129121406 + Missense_Mutation SNP T T G novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 ENST00000326085 -1 known p.S474R 0.002 496 0% 444 39% 0 - benign(0.173) tolerated(0.06) neutral(0.339) NULL ATP2C1 27032 genome.wustl.edu 37 3 130686039 130686039 + Missense_Mutation SNP T T A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_001001486.1 +1 reviewed p.D391E 0.884 598 0% 505 36% 145 41.3% benign(0) tolerated(1) - HMMPfam_Hydrolase,superfamily_HAD-like,superfamily_Metal cation-transporting ATPase ATP-binding domain N,superfamily_Calcium ATPase transmembrane domain M DNAJC13 23317 genome.wustl.edu 37 3 132172153 132172153 + Silent SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_015268.3 +1 validated p.A183 0.978 90 0% 102 42.2% 2 50% - - - NULL KY 339855 genome.wustl.edu 37 3 134323081 134323081 + Silent SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_178554.4 -1 validated p.V442 0.005 75 0% 74 39.2% 0 - - - - NULL PRR23A 729627 genome.wustl.edu 37 3 138724332 138724332 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_001134659.1 -1 validated p.R260H 0.000 97 0% 81 37% 0 - unknown(0) deleterious(0) - HMMPfam_DUF2476 SERPINI2 5276 genome.wustl.edu 37 3 167183307 167183307 + Silent SNP G G T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_006217.3 -1 reviewed p.V211 0.002 355 0% 293 35.5% 0 - - - - HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin TNIK 23043 genome.wustl.edu 37 3 170819285 170819285 + Silent SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_015028.2 -1 validated p.S848 0.086 432 0.2% 408 41.4% 7 42.8% - - - NULL PIK3CA 5290 genome.wustl.edu 37 3 178916726 178916726 + Missense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_006218.2 +1 reviewed p.R38H 1.000 108 0% 77 39% 7 57.1% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_PI3K_p85B,HMMSmart_PI3K_p85B KLHL24 54800 genome.wustl.edu 37 3 183382725 183382725 + Silent SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_017644.3 +1 validated p.S374 1.000 287 0% 226 38.9% 29 34.4% - - - HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain ABCF3 55324 genome.wustl.edu 37 3 183905737 183905737 + Nonsense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_018358.2 +1 validated p.R179* 1.000 285 0.4% 236 38.6% 24 8.3% - - - NULL EHHADH 1962 genome.wustl.edu 37 3 184922527 184922527 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_001966.3 -1 reviewed p.R196H 1.000 116 0.9% 72 33.3% 4 50% probably_damaging(1) tolerated(0.24) deleterious(0.537) superfamily_SSF52096 SENP2 59343 genome.wustl.edu 37 3 185318610 185318610 + Missense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_021627.2 +1 validated p.R139Q 0.991 195 0% 189 39.2% 13 30.7% possibly_damaging(0.867) tolerated(0.47) neutral(0.348) NULL SENP2 59343 genome.wustl.edu 37 3 185332506 185332506 + Missense_Mutation SNP A A G novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_021627.2 +1 validated p.D363G 0.998 269 0% 225 39.1% 16 43.7% benign(0.26) deleterious(0.02) neutral(0.410) NULL LPP 4026 genome.wustl.edu 37 3 188584130 188584130 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_005578.3 +1 reviewed p.A518V 1.000 177 0% 121 43.8% 16 31.2% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_LIM,HMMSmart_SM00132,superfamily_Glucocorticoid receptor-like (DNA-binding domain) MUC4 4585 genome.wustl.edu 37 3 195508158 195508158 + Silent SNP G G T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_018406.5 -1 reviewed p.S3303 0.083 564 0% 613 21% 0 - - - - NULL RNF212 285498 genome.wustl.edu 37 4 1107171 1107171 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_001131034.1 -1 validated p.V28M 1.000 37 0% 18 33.3% 1 0% unknown(0) deleterious(0) - PatternScan_ZF_RING_1 HTT 3064 genome.wustl.edu 37 4 3230404 3230404 + Silent SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_002111.6 +1 reviewed p.D2637 0.646 135 0% 86 50% 47 34% - - - NULL SORCS2 57537 genome.wustl.edu 37 4 7728627 7728627 + Silent SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 ENST00000507866 +1 known p.A922V 1.000 91 0% 66 34.8% 0 - - - - superfamily_PKD domain RELL1 768211 genome.wustl.edu 37 4 37649014 37649014 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_001085399.1 -1 validated p.V121I 1.000 243 0% 234 43.6% 16 43.7% benign(0.082) tolerated(0.08) neutral(0.306) NULL SLC30A9 10463 genome.wustl.edu 37 4 42025372 42025372 + Missense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_006345.3 +1 validated p.R194H 1.000 257 0% 199 30.2% 13 23% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_Putative DNA-binding domain KIT 3815 genome.wustl.edu 37 4 55564723 55564723 + Missense_Mutation SNP T T C novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_000222.2 +1 reviewed p.V204A 1.000 156 0% 142 20.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL UBA6 55236 genome.wustl.edu 37 4 68490836 68490836 + Missense_Mutation SNP G G C novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_018227.5 -1 validated p.T863R 1.000 307 0% 295 19% 26 7.6% probably_damaging(0.991) deleterious(0.01) deleterious(0.850) HMMPfam_UBACT,superfamily_Activating enzymes of the ubiquitin-like proteins UGT2B7 7364 genome.wustl.edu 37 4 69962538 69962538 + Silent SNP T T C novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_001074.2 +1 validated p.L100 0.000 188 0% 204 36.8% 0 - - - - HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase THAP9 79725 genome.wustl.edu 37 4 83838832 83838832 + Silent SNP A A G novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_024672.4 +1 validated p.A489 0.973 129 0% 119 45.4% 5 60% - - - NULL AFF1 4299 genome.wustl.edu 37 4 88053428 88053428 + Missense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_005935.2 +1 validated p.R1053H 1.000 275 0% 184 39.7% 19 42.1% unknown(0) deleterious(0) - HMMPfam_AF-4 PDLIM5 10611 genome.wustl.edu 37 4 95497038 95497038 + Missense_Mutation SNP A A G novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_006457.3 +1 reviewed p.D188G 0.991 235 0% 204 44.1% 96 39.5% benign(0.103) tolerated(0.34) neutral(0.031) NULL SLC9B2 133308 genome.wustl.edu 37 4 103970063 103970063 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_178833.4 -1 validated p.G234R 1.000 210 0% 174 29.3% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Na_H_Exchanger LEF1 51176 genome.wustl.edu 37 4 108999544 108999545 + In_Frame_Ins INS - - GGT novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 ENST00000415535 -1 known p.307in_frame_insH 0.997:0.167 - - - - - - - - - NULL ENPEP 2028 genome.wustl.edu 37 4 111397732 111397732 + Silent SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_001977.3 +1 validated p.A54 0.000 187 0% 146 39% 2 0% - - - NULL PITX2 5308 genome.wustl.edu 37 4 111539567 111539567 + Missense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_000325.5 -1 reviewed p.S230L 1.000 214 0% 193 43% 0 - benign(0.103) deleterious(0.03) neutral(0.372) NULL FREM3 166752 genome.wustl.edu 37 4 144619801 144619801 + Silent SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 ENST00000329798 -1 known p.V676 0.999 125 0% 105 45.7% 0 - - - - NULL SMAD1 4086 genome.wustl.edu 37 4 146460985 146460985 + Missense_Mutation SNP A A G novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_001003688.1 +1 reviewed p.S144G 1.000 295 0% 277 41.5% 24 50% benign(0.03) tolerated(0.07) neutral(0.321) NULL POU4F2 5458 genome.wustl.edu 37 4 147561807 147561807 + Silent SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_004575.2 +1 validated p.S359 0.033 58 1.7% 49 40.8% 0 - - - - HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like DCLK2 166614 genome.wustl.edu 37 4 151169507 151169507 + Silent SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_001040260.2 +1 validated p.A642 0.130 218 0% 170 37.6% 3 0% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase MAB21L2 10586 genome.wustl.edu 37 4 151504832 151504832 + Silent SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_006439.4 +1 reviewed p.S217 0.999 21 0% 24 41.7% 0 - - - - HMMPfam_Mab-21 RAPGEF2 9693 genome.wustl.edu 37 4 160251521 160251521 + Silent SNP A A G novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_014247.2 +1 validated p.E285 1.000 255 0% 221 41.6% 6 50% - - - HMMPfam_RasGEF_N,HMMSmart_RasGEFN,superfamily_Ras_GEF MARCH1 55016 genome.wustl.edu 37 4 164466833 164466833 + Silent SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_017923.3 -1 validated p.H145 0.915 374 0% 308 39.3% 4 0% - - - NULL SPATA4 132851 genome.wustl.edu 37 4 177109361 177109361 + Silent SNP C C A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_144644.2 -1 provisional p.V238 0.969 99 0% 108 38% 0 - - - - NULL ODZ3 55714 genome.wustl.edu 37 4 183659622 183659622 + Nonsense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_001080477.1 +1 provisional p.Q1102* 1.000 378 0% 334 34.1% 4 0% - - - superfamily_ConA_like_lec_gl KIAA1430 57587 genome.wustl.edu 37 4 186111771 186111771 + Missense_Mutation SNP C C G novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_020827.1 -1 validated p.D194H 0.837 349 0% 305 33.4% 20 45% probably_damaging(0.984) deleterious(0.01) deleterious(0.836) NULL SORBS2 8470 genome.wustl.edu 37 4 186560088 186560088 + Silent SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 ENST00000445625 -1 known p.R160H 1.000 56 0% 63 39.7% 8 50% - - - NULL KLKB1 3818 genome.wustl.edu 37 4 187173195 187173195 + Missense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_000892.3 +1 reviewed p.R390H 0.997 106 0.9% 124 39.5% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys ZDHHC11B 653082 genome.wustl.edu 37 5 766919 766919 + Missense_Mutation SNP T T C novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 XM_926053.4 -1 model p.H39R 0.660 92 0% 78 25.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL DNAH5 1767 genome.wustl.edu 37 5 13901502 13901502 + Silent SNP A A G novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_001369.2 -1 reviewed p.I637 0.987 154 0% 140 45.7% 0 - - - - HMMPfam_DHC_N1 MYO10 4651 genome.wustl.edu 37 5 16764447 16764447 + Missense_Mutation SNP A A G novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_012334.2 -1 validated p.V413A 1.000 262 0.4% 226 37.6% 27 33.3% benign(0.042) deleterious(0) neutral(0.447) HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 SLC45A2 51151 genome.wustl.edu 37 5 33954603 33954603 + Missense_Mutation SNP T T C novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_016180.3 -1 reviewed p.R299G 0.195 209 0% 186 34.4% 0 - probably_damaging(0.965) tolerated(0.05) deleterious(0.752) superfamily_MFS general substrate transporter C5orf34 375444 genome.wustl.edu 37 5 43490781 43490781 + Missense_Mutation SNP G G T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 ENST00000306862 -1 known p.P544H 0.000 160 0% 130 46.9% 3 0% possibly_damaging(0.443) tolerated(0.09) neutral(0.441) NULL CWC27 10283 genome.wustl.edu 37 5 64100159 64100159 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_005869.2 +1 validated p.A295V 0.007 194 0% 208 39.4% 8 62.5% benign(0) tolerated(0.28) neutral(0.032) NULL PIK3R1 5295 genome.wustl.edu 37 5 67591246 67591246 + Splice_Site SNP A A G novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_181523.1 +1 reviewed e13-2 1.000 523 0% 479 41.8% 1 100% - - - - ENC1 8507 genome.wustl.edu 37 5 73932188 73932188 + Splice_Site SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 ENST00000510316 -1 known e1-1 1.000 100 0% 69 40.6% 100 38% - - - - TSSK1B 83942 genome.wustl.edu 37 5 112769954 112769954 + Missense_Mutation SNP T T C novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_032028.3 -1 validated p.K195E 0.871 78 0% 69 43.5% 0 - benign(0.031) tolerated(0.11) neutral(0.273) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase P4HA2 8974 genome.wustl.edu 37 5 131530691 131530691 + Missense_Mutation SNP G G T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_001142599.1 -1 reviewed p.L489I 1.000 294 0% 253 39.1% 66 31.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_2OG-FeII_Oxy,HMMSmart_SM00702 AFF4 27125 genome.wustl.edu 37 5 132270345 132270345 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_014423.3 -1 validated p.A138T 1.000 322 0% 268 44% 32 46.8% benign(0.08) tolerated(0.29) neutral(0.035) HMMPfam_AF-4 HARS2 23438 genome.wustl.edu 37 5 140076933 140076933 + Missense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_012208.2 +1 reviewed p.C380Y 1.000 189 0% 156 43.6% 32 37.5% probably_damaging(0.997) deleterious(0) deleterious(0.911) superfamily_SSF55681 PCDHA12 56137 genome.wustl.edu 37 5 140256434 140256434 + Missense_Mutation SNP G G C novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_018903.2 +1 reviewed p.E459D 0.208 107 0% 84 38.1% 0 - benign(0.005) tolerated(0.54) neutral(0.007) superfamily_Cadherin-like PCDHB8 56128 genome.wustl.edu 37 5 140559035 140559035 + Missense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_019120.2 +1 reviewed p.V474I 0.291 279 0.4% 265 12.1% 23 4.3% benign(0.017) tolerated(0.63) neutral(0.004) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHB12 56124 genome.wustl.edu 37 5 140589252 140589252 + Missense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_018932.3 +1 reviewed p.G258D 0.351 275 0% 245 11.4% 2 0% benign(0.347) tolerated(0.3) neutral(0.139) HMMPfam_Cadherin,superfamily_Cadherin PCDHB13 56123 genome.wustl.edu 37 5 140595612 140595612 + Silent SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_018933.2 +1 reviewed p.R639 0.615 21 0% 18 27.8% 12 0% - - - HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHGC3 5098 genome.wustl.edu 37 5 140857253 140857253 + Missense_Mutation SNP C C G novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_002588.2 +1 reviewed p.P524A 0.866 60 0% 46 15.2% 13 15.3% benign(0.066) tolerated(0.23) neutral(0.046) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like GLRA1 2741 genome.wustl.edu 37 5 151231142 151231142 + Missense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_000171.3 -1 reviewed p.R241W 1.000 134 0% 105 38.1% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like GABRA6 2559 genome.wustl.edu 37 5 161116280 161116280 + Missense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_000811.2 +1 reviewed p.C156Y 1.000 413 0% 338 16.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like,PatternScan_NEUROTR_ION_CHANNEL RNF44 22838 genome.wustl.edu 37 5 175956359 175956359 + Missense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_014901.4 -1 reviewed p.A389V 0.380 71 0% 59 40.7% 74 50% benign(0.001) tolerated(0.36) neutral(0.020) HMMSmart_RING,HMMPfam_zf-C3HC4,superfamily_SSF57850 RGS14 10636 genome.wustl.edu 37 5 176798196 176798196 + Missense_Mutation SNP A A G novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_006480.4 +1 reviewed p.K429E 0.986 47 0% 42 57.1% 5 0% benign(0.002) tolerated(0.53) neutral(0.007) HMMPfam_RBD,HMMSmart_SM00455 ZNF879 345462 genome.wustl.edu 37 5 178460019 178460019 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_001136116.1 +1 provisional p.S357L 0.094 123 0% 104 37.5% 4 0% 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 PHACTR1 221692 genome.wustl.edu 37 6 13283774 13283774 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_030948.1 +1 validated p.R544C 1.000 71 0% 64 34.4% 7 28.5% probably_damaging(1) deleterious(0) deleterious(0.945) NULL GMPR 2766 genome.wustl.edu 37 6 16247135 16247135 + Silent SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_006877.3 +1 reviewed p.I50 1.000 210 0% 200 45% 144 51.3% - - - HMMPfam_IMPDH,superfamily_SSF51412 CDKAL1 54901 genome.wustl.edu 37 6 21231175 21231175 + Missense_Mutation SNP A A G novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_017774.3 +1 reviewed p.M549V 0.000 355 0% 256 33.6% 17 47% benign(0) deleterious(0.04) neutral(0.349) NULL TRIM38 10475 genome.wustl.edu 37 6 25983464 25983464 + Missense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_006355.2 +1 reviewed p.R316H 0.000 139 0.7% 150 26.7% 36 13.8% probably_damaging(0.996) tolerated(0.53) deleterious(0.469) HMMSmart_PRY HIST1H2AG 8969 genome.wustl.edu 37 6 27101067 27101067 + Missense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_021064.4 +1 reviewed p.D73N 1.000 177 0% 166 11.4% 11 27.2% possibly_damaging(0.458) deleterious(0) deleterious(0.595) HMMSmart_SM00414,HMMPfam_Histone,superfamily_Histone-fold HIST1H2BM 8342 genome.wustl.edu 37 6 27783020 27783020 + Missense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_003521.2 +1 reviewed p.V67I 1.000 328 0% 253 38.7% 0 - benign(0) deleterious(0.03) neutral(0.364) HMMSmart_H2B,HMMPfam_Histone,superfamily_Histone-fold HLA-F 3134 genome.wustl.edu 37 6 29691344 29691344 + Missense_Mutation SNP G G T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 ENST00000423744 +1 known p.R35M 0.000 9 0.000 8 0.625 1 0% - - - NULL DHX16 8449 genome.wustl.edu 37 6 30632993 30632993 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_003587.4 -1 reviewed p.R327Q 1.000 39 0% 35 42.9% 19 47.3% possibly_damaging(0.939) tolerated(0.12) deleterious(0.645) superfamily_P-loop containing nucleoside triphosphate hydrolases SLC44A4 80736 genome.wustl.edu 37 6 31833349 31833349 + Missense_Mutation SNP T T C novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_025257.2 -1 reviewed p.M538V 0.913 21 0% 24 20.8% 80 50% benign(0.001) tolerated(0.05) neutral(0.345) HMMPfam_DUF580 EGFL8 80864 genome.wustl.edu 37 6 32134574 32134574 + Silent SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_030652.2 +1 validated p.A107 0.947 42 0% 40 37.5% 17 5.8% - - - superfamily_EGF/Laminin RNF8 9025 genome.wustl.edu 37 6 37358608 37358608 + Missense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_183078.2 +1 reviewed p.A443T 0.002 192 0% 165 46.1% 64 57.8% unknown(0) - - NULL MDGA1 266727 genome.wustl.edu 37 6 37631862 37631862 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_153487.3 -1 validated p.V30M 0.384 124 0% 88 28.4% 1 0% possibly_damaging(0.747) deleterious(0) deleterious(0.719) PatternScan_NITROGENASE_1_1 KCNK5 8645 genome.wustl.edu 37 6 39158717 39158717 + Silent SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_003740.3 -1 reviewed p.Y483 0.921 73 0% 60 41.7% 24 29.1% - - - NULL CCND3 896 genome.wustl.edu 37 6 41903698 41903698 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_001760.3 -1 reviewed p.V287I 1.000 113 0.9% 94 36.2% 22 31.8% possibly_damaging(0.95) deleterious(0.04) deleterious(0.742) NULL ZNF318 24149 genome.wustl.edu 37 6 43305342 43305342 + Nonsense_Mutation SNP C C A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_014345.2 -1 validated p.G2132* 0.996 133 0% 137 44.5% 8 50% - - - NULL ABCC10 89845 genome.wustl.edu 37 6 43400813 43400813 + Silent SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_033450.2 +1 reviewed p.C322 0.662 77 0% 69 43.5% 7 57.1% - - - HMMPfam_ABC_membrane,superfamily_ABC_TM_1 CYP39A1 51302 genome.wustl.edu 37 6 46554859 46554859 + Missense_Mutation SNP T T C novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_016593.3 -1 reviewed p.D402G 0.996 235 0% 200 16% 4 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_p450,superfamily_Cytochrome P450 TFAP2B 7021 genome.wustl.edu 37 6 50810909 50810909 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_003221.3 +1 reviewed p.T396M 1.000 51 0% 52 36.5% 0 - possibly_damaging(0.623) deleterious(0) deleterious(0.661) HMMPfam_TF_AP-2 FAM83B 222584 genome.wustl.edu 37 6 54805765 54805765 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_001010872.1 +1 validated p.P666S 1.000 80 0% 89 11.2% 7 28.5% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL CD109 135228 genome.wustl.edu 37 6 74524791 74524791 + Missense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_133493.3 +1 reviewed p.A1286T 0.435 293 0% 226 40.3% 2 0% benign(0) tolerated(0.89) - superfamily_Alpha-macroglobulin receptor domain TTK 7272 genome.wustl.edu 37 6 80751905 80751905 + Missense_Mutation SNP A A G novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_003318.4 +1 reviewed p.R854G 0.014 134 0% 129 48.1% 4 50% possibly_damaging(0.917) tolerated(0.15) deleterious(0.609) NULL LYRM2 57226 genome.wustl.edu 37 6 90347572 90347574 + In_Frame_Del DEL GAG GAG - novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 GAG GAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_020466.4 -1 validated p.L25in_frame_del 0.854:0.880:0.821 - - - - - - - - - HMMPfam_Complex1_LYR ASCC3 10973 genome.wustl.edu 37 6 101296063 101296063 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_006828.2 -1 validated p.M254I 1.000 114 0% 109 32.1% 8 62.5% benign(0) tolerated(1) - NULL TSPYL1 7259 genome.wustl.edu 37 6 116599879 116599879 + Missense_Mutation SNP T T C novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_003309.3 -1 reviewed p.D372G 0.770 198 0% 204 13.2% 66 15.1% benign(0.176) tolerated(0.14) neutral(0.266) HMMPfam_NAP HBS1L 10767 genome.wustl.edu 37 6 135308817 135308817 + Missense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_006620.3 -1 reviewed p.T399M 0.999 182 0% 167 14.4% 41 4.8% probably_damaging(1) tolerated(0.14) deleterious(0.750) HMMPfam_GTP_EFTU,superfamily_P-loop containing nucleoside triphosphate hydrolases GRM1 2911 genome.wustl.edu 37 6 146480622 146480622 + Missense_Mutation SNP G G T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_000838.3 +1 reviewed p.R280M 1.000 175 0.6% 160 20% 0 - possibly_damaging(0.903) deleterious(0.01) deleterious(0.764) HMMPfam_ANF_receptor,superfamily_SSF53822 TAB2 23118 genome.wustl.edu 37 6 149700167 149700167 + Silent SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_015093.4 +1 reviewed p.S372 0.998 179 0% 162 39.5% 47 51% - - - NULL SERAC1 84947 genome.wustl.edu 37 6 158567834 158567834 + Missense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_032861.3 -1 validated p.S156L 0.949 267 0.4% 181 50.3% 11 36.3% benign(0.07) deleterious(0) neutral(0.450) superfamily_ARM repeat TMEM181 57583 genome.wustl.edu 37 6 159044628 159044628 + Missense_Mutation SNP G G A rs188259608 by1000genomes TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_020823.1 +1 validated p.G452R 0.500 158 0% 134 17.2% 27 11.1% probably_damaging(0.961) tolerated(0.43) neutral(0.418) NULL SLC22A1 6580 genome.wustl.edu 37 6 160555052 160555052 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_003057.2 +1 reviewed p.T245M 0.001 112 0% 142 40.8% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_MFS_1,superfamily_MFS general substrate transporter GPR31 2853 genome.wustl.edu 37 6 167571001 167571001 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_005299.2 -1 validated p.A107T 0.069 26 0% 26 53.8% 0 - benign(0.187) tolerated(0.41) neutral(0.033) HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 SNX8 29886 genome.wustl.edu 37 7 2297105 2297105 + Silent SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_013321.1 -1 provisional p.Q343 1.000 59 0% 46 32.6% 28 39.2% - - - NULL SNX8 29886 genome.wustl.edu 37 7 2317822 2317822 + Silent SNP C C G novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_013321.1 -1 provisional p.L71 1.000 91 0% 88 43.2% 21 33.3% - - - HMMPfam_PX,HMMSmart_SM00312,superfamily_PX domain CARD11 84433 genome.wustl.edu 37 7 2962834 2962834 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_032415.3 -1 validated p.V692M 0.289 24 0% 11 54.5% 2 0% possibly_damaging(0.766) deleterious(0.01) deleterious(0.690) HMMSmart_PDZ,superfamily_PDZ DPY19L1 23333 genome.wustl.edu 37 7 35057495 35057495 + Missense_Mutation SNP A A G novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_015283.1 -1 validated p.M64T 1.000 202 0% 166 43.4% 9 66.6% probably_damaging(0.993) deleterious(0) deleterious(0.895) HMMPfam_DUF2211 ZMIZ2 83637 genome.wustl.edu 37 7 44802492 44802492 + Missense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_031449.3 +1 validated p.V537M 1.000 100 0% 113 50.4% 118 52.5% probably_damaging(0.987) deleterious(0.03) deleterious(0.801) NULL ZNF680 340252 genome.wustl.edu 37 7 63982366 63982366 + Missense_Mutation SNP G G T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_178558.4 -1 validated p.H256N 0.951 112 0.9% 100 27% 8 12.5% possibly_damaging(0.811) deleterious(0.01) deleterious(0.711) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers AUTS2 26053 genome.wustl.edu 37 7 70255577 70255579 + In_Frame_Del DEL CCA CCA - rs35604576 TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 CCA CCA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_015570.2 +1 validated p.H1129in_frame_del 1.000:1.000:1.000 - - - - - - - - - NULL ABHD11 83451 genome.wustl.edu 37 7 73151835 73151835 + RNA SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NR_026912.1 -1 validated NULL 0.001 37 0% 24 29.2% 10 30% - - - - WBSCR27 155368 genome.wustl.edu 37 7 73254451 73254452 + Splice_Site INS - - TG novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_152559.2 -1 reviewed e4-1 0.880:0.468 - - - - - - - - - - LIMK1 3984 genome.wustl.edu 37 7 73535328 73535328 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_002314.2 +1 reviewed p.P577L 0.998 116 0% 117 15.4% 49 22.4% possibly_damaging(0.813) tolerated(0.12) deleterious(0.568) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) GTF2IRD1 9569 genome.wustl.edu 37 7 73927263 73927263 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_016328.1 +1 reviewed p.A76V 0.401 118 0% 97 17.5% 14 21.4% benign(0.328) deleterious(0.02) deleterious(0.486) NULL SEMA3D 223117 genome.wustl.edu 37 7 84649599 84649599 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_152754.2 -1 validated p.E485K 1.000 222 0% 204 36.8% 0 - possibly_damaging(0.684) tolerated(0.25) neutral(0.281) HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema ABCB1 5243 genome.wustl.edu 37 7 87196162 87196162 + Nonsense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_000927.3 -1 reviewed p.R157* 0.917 330 0% 259 16.2% 0 - - - - HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain ZKSCAN1 7586 genome.wustl.edu 37 7 99631749 99631750 + Frame_Shift_Del DEL AG AG - novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_003439.1 +1 validated p.R543fs 0.322:0.996 - - - - - - - - - superfamily_C2H2 and C2HC zinc fingers SRRT 51593 genome.wustl.edu 37 7 100482040 100482042 + In_Frame_Del DEL AGG AGG - novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 AGG AGG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_015908.5 +1 validated p.E274in_frame_del 1.000:0.996:1.000 - - - - - - - - - NULL ACHE 43 genome.wustl.edu 37 7 100487859 100487859 + Missense_Mutation SNP C C A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_000665.3 -1 reviewed p.K607N 1.000 88 0% 79 50.6% 1 0% probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMPfam_AChE_tetra PIK3CG 5294 genome.wustl.edu 37 7 106508064 106508064 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_002649.2 +1 reviewed p.R20C 1.000 12 0% 14 35.7% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL PODXL 5420 genome.wustl.edu 37 7 131191402 131191402 + Silent SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_001018111.2 -1 reviewed p.C395 0.006 181 0% 164 16.5% 73 24.6% - - - HMMPfam_CD34_antigen WEE2 494551 genome.wustl.edu 37 7 141424838 141424838 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_001105558.1 +1 validated p.L412F 0.999 114 0% 85 47.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Kinase_like,HMMPfam_Pkinase MGAM 8972 genome.wustl.edu 37 7 141731551 141731551 + Missense_Mutation SNP T T G novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_004668.2 +1 reviewed p.F514L 0.556 487 0% 370 37.8% 0 - benign(0) tolerated(0.62) neutral(0.004) HMMPfam_Glyco_hydro_31 ZYX 7791 genome.wustl.edu 37 7 143085432 143085432 + Nonsense_Mutation SNP G G T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_001010972.1 +1 reviewed p.E382* 0.938 47 0% 42 33.3% 201 2.9% - - - NULL ARHGEF5 7984 genome.wustl.edu 37 7 144077042 144077042 + Missense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_005435.3 +1 reviewed p.V1563M 0.000 114 0% 85 32.9% 48 56.2% benign(0.002) tolerated(0.35) neutral(0.021) HMMSmart_SM00326,superfamily_SH3-domain,HMMPfam_SH3_2 CNTNAP2 26047 genome.wustl.edu 37 7 147914596 147914596 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_014141.5 +1 reviewed p.A1076V 0.998 96 0% 90 41.1% 0 - probably_damaging(1) tolerated(0.06) deleterious(0.823) HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 ZNF862 643641 genome.wustl.edu 37 7 149545162 149545162 + Missense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_001099220.1 +1 provisional p.A194T 0.986 165 0% 113 37.2% 8 25% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00597 DLGAP2 9228 genome.wustl.edu 37 8 1497385 1497385 + Missense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_004745.3 +1 reviewed p.G176S 0.998 12 0% 21 71.4% 0 - probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL CSMD1 64478 genome.wustl.edu 37 8 3200968 3200968 + Missense_Mutation SNP T T C novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_033225.5 -1 validated p.Y1161C 0.329 256 0% 201 39.3% 0 - probably_damaging(0.986) deleterious(0.04) deleterious(0.783) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain SGK223 157285 genome.wustl.edu 37 8 8185399 8185399 + Missense_Mutation SNP C C A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_001080826.1 -1 validated p.V965L 0.940 71 0% 77 41.6% 21 38% benign(0.249) deleterious(0.04) neutral(0.374) NULL TNKS 8658 genome.wustl.edu 37 8 9584166 9584166 + Missense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_003747.2 +1 validated p.R646H 0.972 525 0.4% 467 21.6% 13 15.3% benign(0.001) tolerated(0.13) neutral(0.253) superfamily_Ankyrin repeat DLC1 10395 genome.wustl.edu 37 8 12956878 12956878 + Missense_Mutation SNP C C A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_182643.2 -1 reviewed p.A990S 1.000 186 0.5% 162 16.7% 12 16.6% probably_damaging(1) tolerated(0.12) deleterious(0.760) NULL HR 55806 genome.wustl.edu 37 8 21978271 21978271 + Silent SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_005144.4 -1 reviewed p.R856 0.000 5 0.000 8 0.500 3 66.6% - - - NULL LGI3 203190 genome.wustl.edu 37 8 22006023 22006023 + Missense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_139278.2 -1 validated p.R433C 0.597 48 0% 27 37% 0 - probably_damaging(0.994) deleterious(0.02) deleterious(0.835) HMMPfam_EPTP EBF2 64641 genome.wustl.edu 37 8 25899750 25899750 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_022659.2 -1 validated p.R50Q 1.000 124 0% 145 46.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL FZD3 7976 genome.wustl.edu 37 8 28385184 28385184 + Missense_Mutation SNP T T A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_017412.2 +1 reviewed p.W303R 1.000 197 0% 164 17.7% 13 7.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Frizzled HGSNAT 138050 genome.wustl.edu 37 8 43024316 43024316 + Silent SNP T T C novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_152419.2 +1 reviewed p.S188 0.932 140 0% 89 41.6% 28 46.4% - - - NULL SNAI2 6591 genome.wustl.edu 37 8 49832557 49832557 + Missense_Mutation SNP T T C novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_003068.3 -1 reviewed p.K175E 0.998 182 0% 137 35% 5 0% 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 SDR16C6P 442388 genome.wustl.edu 37 8 57302813 57302813 + Missense_Mutation SNP C C A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 ENST00000444271 -1 known p.V108F 1.000 173 0% 148 40.5% 0 - - - - HMMPfam_adh_short,superfamily_NAD(P)-binding Rossmann-fold domains LOC392232 392232 genome.wustl.edu 37 8 73163714 73163714 + RNA SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 XR_037363.2 -1 model NULL 0.002 45 0% 39 48.7% 0 - - - - - UBR5 51366 genome.wustl.edu 37 8 103266697 103266699 + In_Frame_Del DEL CTT CTT - novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_015902.4 -1 reviewed p.E2744in_frame_del 1.000:1.000:1.000 - - - - - - - - - HMMPfam_HECT,HMMSmart_HECTc,superfamily_HECT MTSS1 9788 genome.wustl.edu 37 8 125565583 125565583 + Missense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_014751.4 -1 validated p.R640W 0.108 181 0% 145 31.7% 17 76.4% possibly_damaging(0.643) deleterious(0.03) deleterious(0.590) NULL ADCY8 114 genome.wustl.edu 37 8 131916151 131916161 + Frame_Shift_Del DEL CTGTCCTCAGG CTGTCCTCAGG - novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 CTGTCCTCAGG CTGTCCTCAGG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_001115.2 -1 reviewed p.P590fs 0.497:0.530:0.142:1.000:1.000:1.000:1.000:1.000:0.663:1.000:1.000 - - - - - - - - - NULL ZFAT 57623 genome.wustl.edu 37 8 135614730 135614730 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_020863.3 -1 reviewed p.R411H 1.000 34 0% 38 23.7% 5 40% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers PTK2 5747 genome.wustl.edu 37 8 141675056 141675056 + Missense_Mutation SNP T T C novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_005607.3 -1 reviewed p.D991G 1.000 139 0% 85 32.9% 63 50.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Focal_AT,superfamily_Focal_AT ARC 23237 genome.wustl.edu 37 8 143694599 143694599 + Missense_Mutation SNP A A G novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_015193.3 -1 validated p.L345P 1.000 24 0% 33 18.2% 0 - probably_damaging(0.99) deleterious(0.01) deleterious(0.847) NULL PPP1R16A 84988 genome.wustl.edu 37 8 145724196 145724196 + Silent SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_032902.5 +1 provisional p.N101 0.936 67 0% 36 47.2% 51 43.1% unknown(0) - - HMMPfam_Ank,superfamily_ANK TTC39B 158219 genome.wustl.edu 37 9 15192657 15192657 + Silent SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_152574.2 -1 validated p.N221 1.000 274 0% 227 15.9% 1 0% - - - HMMPfam_Deme6 IFT74 80173 genome.wustl.edu 37 9 27048229 27048229 + Silent SNP T T C novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_001099222.1 +1 validated p.T430 0.990 157 0% 139 39.6% 25 40% - - - NULL RUSC2 9853 genome.wustl.edu 37 9 35560615 35560615 + Missense_Mutation SNP G G T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_001135999.1 +1 validated p.E1326D 1.000 19 0% 20 35% 2 50% probably_damaging(0.999) deleterious(0.05) deleterious(0.836) NULL FRMPD1 22844 genome.wustl.edu 37 9 37746496 37746496 + Silent SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_014907.2 +1 validated p.A1489 0.002 32 0% 32 34.4% 0 - - - - NULL TRPM3 80036 genome.wustl.edu 37 9 73168089 73168089 + Missense_Mutation SNP T T C novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_001007471.2 -1 reviewed p.I1109V 1.000 117 0% 124 37.1% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Ion_trans RASEF 158158 genome.wustl.edu 37 9 85620367 85620367 + Silent SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_152573.2 -1 provisional p.A359 0.974 639 0% 514 41.2% 10 30% - - - NULL ROR2 4920 genome.wustl.edu 37 9 94487153 94487153 + Silent SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_004560.2 -1 reviewed p.G541 0.029 50 0% 50 50% 15 40% - - - HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like NANS 54187 genome.wustl.edu 37 9 100845195 100845195 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_018946.3 +1 reviewed p.T313I 1.000 187 0% 151 42.4% 148 45.9% possibly_damaging(0.716) deleterious(0.02) deleterious(0.642) superfamily_AFP III-like domain (Pfam 01354),HMMPfam_SAF FKTN 2218 genome.wustl.edu 37 9 108377629 108377629 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_001079802.1 +1 reviewed p.A284V 1.000 238 0% 230 14.3% 2 50% possibly_damaging(0.568) tolerated(0.17) neutral(0.254) NULL ZNF462 58499 genome.wustl.edu 37 9 109685830 109685830 + Nonsense_Mutation SNP G G T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_021224.4 +1 validated p.E56* 1.000 395 0.3% 264 42.8% 6 0% - - - NULL LRRC37A5P 652972 genome.wustl.edu 37 9 114371458 114371458 + Silent SNP G G T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 ENST00000374306 -1 known p.T50 0.398 92 0% 133 37.6% 0 - - - - NULL KIF12 113220 genome.wustl.edu 37 9 116854163 116854163 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_138424.1 -1 provisional p.G507D 0.001 25 0% 27 25.9% 234 53.8% benign(0.056) deleterious(0.04) neutral(0.352) NULL AKNA 80709 genome.wustl.edu 37 9 117124105 117124105 + Missense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_030767.4 -1 validated p.P668L 0.000 187 0% 160 46.3% 20 25% benign(0.323) tolerated(0.08) neutral(0.401) NULL ENSG00000221734 0 genome.wustl.edu 37 9 117554503 117554503 + RNA SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 ENST00000408807 +1 novel NULL 0.006 128 0% 88 30.7% 0 - - - - - ENSG00000221734 0 genome.wustl.edu 37 9 117554504 117554504 + RNA SNP T T C novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 ENST00000408807 +1 novel NULL 0.007 122 0% 88 30.7% 0 - - - - - FBXW2 26190 genome.wustl.edu 37 9 123535119 123535119 + Splice_Site SNP C C A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_012164.3 -1 reviewed e4-1 1.000 150 0% 126 31.7% 0 - - - - - TRAF1 7185 genome.wustl.edu 37 9 123675774 123675774 + Missense_Mutation SNP C C A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_005658.3 -1 reviewed p.Q179H 1.000 26 0% 29 55.2% 4 0% benign(0) tolerated(0.18) neutral(0.056) NULL RABGAP1 23637 genome.wustl.edu 37 9 125852567 125852567 + Missense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_012197.3 +1 validated p.R844H 1.000 92 0% 64 45.3% 39 69.2% probably_damaging(0.992) tolerated(0.37) neutral(0.467) NULL GAPVD1 26130 genome.wustl.edu 37 9 128094805 128094805 + Silent SNP T T C novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 ENST00000431329 +1 known p.L638P 0.996 176 0% 155 47.1% 13 61.5% - - - NULL MAMDC4 158056 genome.wustl.edu 37 9 139754440 139754442 + In_Frame_Del DEL AGA AGA - novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 AGA AGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_206920.2 +1 validated p.K1101in_frame_del 0.001:0.064:0.062 - - - - - - - - - NULL TRAF2 7186 genome.wustl.edu 37 9 139818323 139818323 + Silent SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_021138.3 +1 reviewed p.Y386 0.986 103 0% 79 49.4% 28 42.8% - - - HMMPfam_MATH,HMMSmart_SM00061,superfamily_TRAF domain-like SLC34A3 142680 genome.wustl.edu 37 9 140128120 140128121 + Frame_Shift_Ins INS - - A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_080877.2 +1 reviewed p.N264fs 0.905:0.612 - - - - - - - - - NULL WDR37 22884 genome.wustl.edu 37 10 1130353 1130353 + Missense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_014023.3 +1 reviewed p.S136N 1.000 103 0% 94 41.5% 13 53.8% possibly_damaging(0.574) tolerated(0.08) deleterious(0.497) NULL PRKCQ 5588 genome.wustl.edu 37 10 6506334 6506334 + Silent SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 ENST00000397178 -1 known p.T235M 0.993 235 0.4% 211 33.2% 12 33.3% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase WAC 51322 genome.wustl.edu 37 10 28879705 28879705 + Missense_Mutation SNP G G T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_016628.3 +1 reviewed p.R185M 1.000 226 0.4% 182 39.6% 65 55.3% probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL SVIL 6840 genome.wustl.edu 37 10 29769617 29769617 + Silent SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_021738.2 -1 reviewed p.H1742 0.051 117 0% 88 27.3% 84 44% - - - superfamily_Actin depolymerizing proteins MTPAP 55149 genome.wustl.edu 37 10 30654224 30654224 + Missense_Mutation SNP C C A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 ENST00000358107 -1 known p.Q13H 0.108 34 0% 34 35.3% 0 - unknown(0) - - NULL ZNF438 220929 genome.wustl.edu 37 10 31139123 31139123 + Missense_Mutation SNP T T C novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_001143766.1 -1 validated p.K71E 0.995 278 0% 279 40.1% 2 0% probably_damaging(0.995) deleterious(0.01) deleterious(0.863) NULL PARD3 56288 genome.wustl.edu 37 10 34400387 34400387 + Missense_Mutation SNP T T C novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_019619.3 -1 validated p.S1261G 1.000 122 0% 96 34.4% 43 44.1% probably_damaging(0.988) tolerated(0.56) neutral(0.444) NULL ZNF248 57209 genome.wustl.edu 37 10 38121477 38121477 + Missense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_021045.1 -1 provisional p.P269L 0.969 158 0% 138 44.9% 1 100% benign(0.008) tolerated(0.45) neutral(0.012) superfamily_C2H2 and C2HC zinc fingers RBP3 5949 genome.wustl.edu 37 10 48383988 48383988 + Splice_Site SNP T T C novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_002900.2 -1 reviewed e3-2 1.000 224 0% 173 38.7% 0 - - - - - ANK3 288 genome.wustl.edu 37 10 61830642 61830642 + Missense_Mutation SNP T T C novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_020987.2 -1 reviewed p.T3333A 1.000 284 0% 265 21.9% 0 - possibly_damaging(0.753) - - NULL DNAJB12 54788 genome.wustl.edu 37 10 74095665 74095665 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_001002762.2 -1 validated p.R378H 1.000 187 0% 151 45.7% 80 43.7% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_DUF1977 SEC24C 9632 genome.wustl.edu 37 10 75520137 75520137 + Silent SNP A A G novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_004922.2 +1 reviewed p.Q281 0.935 76 0% 67 34.3% 28 25% - - - superfamily_beta-sandwich domain of Sec23/24 GRID1 2894 genome.wustl.edu 37 10 87407132 87407133 + Frame_Shift_Ins INS - - T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_017551.2 -1 reviewed p.Q673fs 1.000:0.995 - - - - - - - - - HMMPfam_Lig_chan,HMMSmart_SM00079,superfamily_Periplasmic binding protein-like II CYP2C9 1559 genome.wustl.edu 37 10 96701613 96701613 + Splice_Site SNP A A T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_000771.3 +1 reviewed e2-2 0.990 635 0% 926 25.5% 0 - - - - - SLIT1 6585 genome.wustl.edu 37 10 98808782 98808782 + Silent SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_003061.2 -1 validated p.R465 1.000 50 0% 57 38.6% 1 0% - - - HMMPfam_LRRCT,HMMSmart_SM00082,superfamily_L domain-like CNNM1 26507 genome.wustl.edu 37 10 101147593 101147593 + Missense_Mutation SNP A A G novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_020348.2 +1 validated p.Y786C 1.000 71 0% 56 32.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL SEC31B 25956 genome.wustl.edu 37 10 102249071 102249071 + Missense_Mutation SNP G G T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_015490.3 -1 reviewed p.Q1037K 0.031 361 0% 311 36.7% 2 50% benign(0.05) tolerated(0.7) neutral(0.005) NULL SLK 9748 genome.wustl.edu 37 10 105770628 105770628 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_014720.2 +1 provisional p.R947C 1.000 206 0.5% 182 28.6% 20 65% probably_damaging(1) tolerated(0.07) deleterious(0.819) superfamily_Protein kinase-like (PK-like) MKI67 4288 genome.wustl.edu 37 10 129906123 129906123 + Silent SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_002417.4 -1 reviewed p.T1327 0.000 414 0% 399 38.1% 14 57.1% - - - HMMPfam_K167R B4GALNT4 338707 genome.wustl.edu 37 11 375742 375742 + Silent SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_178537.4 +1 validated p.L318 1.000 32 0% 24 29.2% 3 0% - - - NULL C11orf42 160298 genome.wustl.edu 37 11 6231294 6231294 + Missense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_173525.2 +1 validated p.C96Y 1.000 104 0% 82 40.2% 0 - possibly_damaging(0.681) deleterious(0) deleterious(0.688) NULL OR10A3 26496 genome.wustl.edu 37 11 7960486 7960486 + Silent SNP T T C novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_001003745.1 -1 provisional p.L194 0.003 154 0% 166 46.4% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like CYP2R1 120227 genome.wustl.edu 37 11 14901869 14901869 + Silent SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_024514.4 -1 reviewed p.Q271 0.974 180 0% 158 31.6% 4 100% - - - HMMPfam_p450,superfamily_Cytochrome_P450 C11orf41 25758 genome.wustl.edu 37 11 33667382 33667382 + Silent SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_012194.1 +1 validated p.L1563 1.000 32 0% 33 51.5% 0 - - - - NULL C11orf55 399879 genome.wustl.edu 37 11 36293214 36293214 + Missense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 ENST00000355500 -1 known p.T48M 0.000 323 0.3% 243 36.6% 0 - probably_damaging(0.953) - - NULL ACCS 84680 genome.wustl.edu 37 11 44089260 44089260 + Missense_Mutation SNP A A G novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_001127219.1 +1 validated p.H28R 0.000 151 0% 122 23% 1 100% benign(0.011) tolerated(0.57) neutral(0.007) NULL MYBPC3 4607 genome.wustl.edu 37 11 47357476 47357476 + Nonsense_Mutation SNP C C A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_000256.3 -1 reviewed p.G897* 1.000 24 0% 21 33.3% 0 - - - - HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like OR4C46 119749 genome.wustl.edu 37 11 51516153 51516153 + Missense_Mutation SNP A A G novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_001004703.1 +1 provisional p.Q291R 0.171 155 0% 136 40.4% 0 - possibly_damaging(0.736) deleterious(0) deleterious(0.714) superfamily_SSF81321 TRIM48 79097 genome.wustl.edu 37 11 55032643 55032643 + Silent SNP T T C novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_024114.3 +1 validated p.S104 0.813 496 0% 507 46.4% 0 - - - - HMMPfam_zf-B_box,HMMSmart_SM00336,superfamily_RING/U-box OR5AS1 219447 genome.wustl.edu 37 11 55798648 55798648 + Missense_Mutation SNP T T C novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_001001921.1 +1 provisional p.Y252H 1.000 127 0% 104 42.3% 0 - probably_damaging(0.998) tolerated(0.18) deleterious(0.530) HMMPfam_7tm_1,superfamily_SSF81321 VWCE 220001 genome.wustl.edu 37 11 61048609 61048609 + Missense_Mutation SNP G G T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_152718.2 -1 validated p.L296M 0.999 88 0% 64 29.7% 1 100% probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL AHNAK 79026 genome.wustl.edu 37 11 62287071 62287071 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_001620.1 -1 validated p.G4940S 0.996 75 0% 72 20.8% 119 15.1% possibly_damaging(0.862) tolerated(0.6) neutral(0.338) NULL RASGRP2 10235 genome.wustl.edu 37 11 64497246 64497246 + Missense_Mutation SNP G G T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_001098670.1 -1 reviewed p.L527I 1.000 204 0% 177 41.2% 4 0% possibly_damaging(0.706) deleterious(0.01) deleterious(0.659) HMMPfam_C1_1,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,superfamily_Cysteine-rich domain ATG2A 23130 genome.wustl.edu 37 11 64680848 64680848 + Missense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_015104.2 -1 validated p.R206W 1.000 20 0% 16 25% 13 46.1% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL POLA2 23649 genome.wustl.edu 37 11 65048544 65048544 + Silent SNP C C A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_002689.2 +1 provisional p.R276 0.993 265 0% 256 43.8% 23 39.1% - - - NULL TIGD3 220359 genome.wustl.edu 37 11 65124504 65124504 + Missense_Mutation SNP A A G novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_145719.2 +1 reviewed p.K409E 0.995 182 0% 117 39.3% 1 0% benign(0.388) tolerated(0.42) neutral(0.138) NULL PCNXL3 399909 genome.wustl.edu 37 11 65384320 65384320 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_032223.2 +1 validated p.A60V 0.995 125 0% 93 39.8% 22 31.8% benign(0.355) tolerated(1) neutral(0.113) NULL PCNXL3 399909 genome.wustl.edu 37 11 65389747 65389747 + Missense_Mutation SNP G G T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_032223.2 +1 validated p.R756L 0.905 44 0% 39 10.3% 31 3.2% possibly_damaging(0.581) tolerated(0.06) deleterious(0.522) NULL CD248 57124 genome.wustl.edu 37 11 66083530 66083530 + Silent SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_020404.2 -1 validated p.Q323 1.000 41 0% 25 20% 46 0% - - - HMMSmart_SM00179,HMMSmart_SM00181,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin PLEKHB1 58473 genome.wustl.edu 37 11 73371816 73371816 + Missense_Mutation SNP T T C novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_021200.2 +1 validated p.Y172H 0.990 77 0% 53 30.2% 21 47.6% benign(0.203) tolerated(0.15) neutral(0.261) NULL MYO7A 4647 genome.wustl.edu 37 11 76890854 76890854 + Missense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_000260.3 +1 reviewed p.R814H 1.000 4 0.000 6 0.667 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_IQ,HMMSmart_SM00015,superfamily_P-loop containing nucleoside triphosphate hydrolases TRIM77P 390231 genome.wustl.edu 37 11 89450714 89450714 + Missense_Mutation SNP T T C novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 XM_002343107.1 +1 model p.W343R 0.162 340 0% 329 38% 0 - - - - HMMPfam_SPRY GUCY1A2 2977 genome.wustl.edu 37 11 106647223 106647223 + Missense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_000855.1 -1 validated p.A593V 1.000 155 0% 140 45% 4 0% benign(0.389) deleterious(0) deleterious(0.569) HMMPfam_Guanylate_cyc,HMMSmart_SM00044,superfamily_Adenylyl and guanylyl cyclase catalytic domain HYOU1 10525 genome.wustl.edu 37 11 118920287 118920287 + Missense_Mutation SNP T T C novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_001130991.1 -1 reviewed p.N596S 1.000 199 0% 171 36.3% 121 38.8% possibly_damaging(0.793) tolerated(0.29) neutral(0.327) NULL CBL 867 genome.wustl.edu 37 11 119149279 119149279 + Silent SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_005188.2 +1 reviewed p.I429 0.723 227 0% 218 41.7% 3 33.3% - - - superfamily_SSF57850 VWA5A 4013 genome.wustl.edu 37 11 123993796 123993796 + Missense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_001130142.1 +1 validated p.S297N 0.002 162 0% 117 23.1% 9 33.3% benign(0) tolerated(0.48) neutral(0.011) HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like RPUSD4 84881 genome.wustl.edu 37 11 126079498 126079498 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_032795.2 -1 validated p.V159I 0.961 101 0% 113 42.5% 19 0% possibly_damaging(0.67) tolerated(0.17) neutral(0.296) HMMPfam_PseudoU_synth_2,PatternScan_PSI_RLU,superfamily_PsdUridine_synth_cat_dom KIRREL3 84623 genome.wustl.edu 37 11 126301254 126301254 + Silent SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 ENST00000416561 -1 known p.L545 0.991 152 0% 146 34.9% 0 - - - - NULL NFRKB 4798 genome.wustl.edu 37 11 129744049 129744049 + Silent SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_006165.3 -1 validated p.S771 0.383 445 0% 401 40.1% 29 41.3% - - - NULL NTM 50863 genome.wustl.edu 37 11 132016320 132016320 + Silent SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_001144058.1 +1 reviewed p.N104 0.012 163 0% 133 41.4% 3 0% - - - HMMSmart_IG,HMMPfam_I-set,superfamily_SSF48726 KDM5A 5927 genome.wustl.edu 37 12 432894 432894 + Silent SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_001042603.1 -1 reviewed p.R674 0.899 201 0% 152 41.4% 17 35.2% - - - NULL WNT5B 81029 genome.wustl.edu 37 12 1748946 1748946 + Missense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_030775.2 +1 reviewed p.G142D 1.000 37 0% 27 55.6% 1 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_wnt,HMMSmart_SM00097 NCAPD2 9918 genome.wustl.edu 37 12 6638150 6638150 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_014865.3 +1 validated p.R1173C 1.000 132 0% 141 44.7% 90 50% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ARM repeat ATN1 1822 genome.wustl.edu 37 12 7050099 7050099 + Silent SNP C C A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_001007026.1 +1 reviewed p.R1091 0.998 335 0% 317 23.3% 391 12.2% - - - HMMPfam_Atrophin-1 PHB2 11331 genome.wustl.edu 37 12 7077108 7077108 + Missense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_001144831.1 -1 validated p.T185I 1.000 104 0% 114 45.6% 419 43.9% probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_Band_7,HMMSmart_SM00244 CD69 969 genome.wustl.edu 37 12 9907414 9907414 + RNA SNP A A G novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NR_026672.1 -1 reviewed NULL 0.000 49 0% 55 45.5% 3 0% - - - - BCAT1 586 genome.wustl.edu 37 12 24989523 24989525 + In_Frame_Del DEL TTC TTC - novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 TTC TTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_005504.6 -1 reviewed p.E275in_frame_del 1.000:1.000:1.000 - - - - - - - - - HMMPfam_Aminotran_4,superfamily_Aminotrans_IV,PatternScan_AA_TRANSFER_CLASS_4 KRAS 3845 genome.wustl.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T rs121913529 byCluster TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_033360.2 -1 reviewed p.G12D 1.000 280 0% 247 40.1% 20 40% possibly_damaging(0.886) deleterious(0) deleterious(0.791) HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases ASUN 55726 genome.wustl.edu 37 12 27064230 27064230 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_018164.2 -1 validated p.R609H 1.000 389 0% 393 38.2% 12 41.6% possibly_damaging(0.782) tolerated(0.16) neutral(0.352) HMMPfam_DUF2151 PKP2 5318 genome.wustl.edu 37 12 32994140 32994140 + Splice_Site SNP C C A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_004572.3 -1 reviewed e7-1 1.000 157 0% 152 22.4% 0 - - - - - PRICKLE1 144165 genome.wustl.edu 37 12 42864067 42864067 + Missense_Mutation SNP A A G novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_001144881.1 -1 reviewed p.L76S 1.000 298 0.3% 285 39.3% 5 40% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_PET ADAMTS20 80070 genome.wustl.edu 37 12 43896021 43896021 + Silent SNP A A G novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_025003.3 -1 validated p.A267 0.995 418 0.2% 393 37.2% 0 - - - - "HMMPfam_Reprolysin,superfamily_Metalloproteases (""zincins"") catalytic domain" AMIGO2 347902 genome.wustl.edu 37 12 47471515 47471515 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_001143668.1 -1 validated p.C424Y 1.000 381 0% 328 43% 117 63.2% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SLC48A1 55652 genome.wustl.edu 37 12 48174341 48174354 + Frame_Shift_Del DEL TTTTTTTTTTCTTT TTTTTTTTTTCTTT - novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 TTTTTTTTTTCTTT TTTTTTTTTTCTTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 ENST00000390229 +1 known p.L115fs 0.004:0.005:0.007:0.007:0.005:0.014:0.017:0.025:0.047:0.058:0.079:0.285:0.397:0.459 - - - - - - - - - NULL SLC48A1 55652 genome.wustl.edu 37 12 48174341 48174355 + In_Frame_Del DEL TTTTTTTTTTCTTTT TTTTTTTTTTCTTTT - novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 TTTTTTTTTTCTTTT TTTTTTTTTTCTTTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 ENST00000390229 +1 known p.LFFFF115in_frame_del 0.004:0.005:0.007:0.007:0.005:0.014:0.017:0.025:0.047:0.058:0.079:0.285:0.397:0.459:0.491 - - - - - - - - - NULL PRKAG1 5571 genome.wustl.edu 37 12 49398773 49398773 + Silent SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_002733.3 -1 reviewed p.P128 0.898 164 0.6% 167 15.6% 60 21.6% - - - HMMPfam_CBS,HMMSmart_CBS,superfamily_SSF54631 FMNL3 91010 genome.wustl.edu 37 12 50045965 50045965 + Missense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_175736.4 -1 validated p.H452Y 0.999 28 0% 25 36% 16 31.2% possibly_damaging(0.903) tolerated(0.14) deleterious(0.607) HMMPfam_Drf_FH3 DIP2B 57609 genome.wustl.edu 37 12 51102337 51102337 + Missense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_173602.2 +1 validated p.V881M 1.000 353 0% 307 43.6% 13 46.1% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Acetyl-CoA synthetase-like KRT6B 3854 genome.wustl.edu 37 12 52841743 52841743 + Missense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_005555.3 -1 reviewed p.R415C 1.000 220 0% 196 42.3% 4 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Filament PCBP2 5094 genome.wustl.edu 37 12 53849679 53849679 + Missense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_005016.5 +1 reviewed p.R46H 1.000 273 0% 208 40.4% 690 41.4% benign(0.005) tolerated(0.09) neutral(0.296) HMMSmart_KH,HMMPfam_KH_1,superfamily_SSF54791 RNF41 10193 genome.wustl.edu 37 12 56600559 56600559 + Missense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_005785.2 -1 reviewed p.A209V 1.000 117 0% 89 44.9% 48 47.9% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_USP8_interact RNF41 10193 genome.wustl.edu 37 12 56601953 56601953 + Silent SNP C C A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_005785.2 -1 reviewed p.A164 0.030 156 0% 150 42.7% 75 52% - - - HMMPfam_USP8_interact BAZ2A 11176 genome.wustl.edu 37 12 56997467 56997467 + Missense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_013449.3 -1 validated p.A1021V 0.999 161 0% 134 32.8% 29 41.3% probably_damaging(0.979) deleterious(0.02) deleterious(0.805) NULL TPH2 121278 genome.wustl.edu 37 12 72425414 72425414 + Missense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_173353.3 +1 reviewed p.R471H 1.000 346 0% 273 44.3% 0 - probably_damaging(0.991) tolerated(0.06) deleterious(0.766) HMMPfam_Biopterin_H,superfamily_Aaa_hydroxylase CDK17 5128 genome.wustl.edu 37 12 96688813 96688813 + Missense_Mutation SNP T T C novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_002595.3 -1 reviewed p.I321V 1.000 513 0% 460 46.3% 8 25% possibly_damaging(0.744) deleterious(0.01) deleterious(0.679) HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase ANO4 121601 genome.wustl.edu 37 12 101413867 101413867 + Missense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_178826.3 +1 validated p.V229M 1.000 252 0.4% 184 35.9% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL FICD 11153 genome.wustl.edu 37 12 108910879 108910879 + Silent SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_007076.2 +1 validated p.L44 0.998 68 0% 43 39.5% 4 25% - - - NULL SART3 9733 genome.wustl.edu 37 12 108923966 108923966 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_014706.3 -1 reviewed p.R623H 0.402 602 0% 636 42.6% 32 37.5% probably_damaging(0.997) deleterious(0.04) deleterious(0.815) NULL MYL2 4633 genome.wustl.edu 37 12 111348947 111348947 + Silent SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_000432.3 -1 reviewed p.D145 0.808 136 0% 115 31.3% 0 - - - - HMMSmart_SM00054,superfamily_EF-hand RBM19 9904 genome.wustl.edu 37 12 114380164 114380164 + Missense_Mutation SNP T T C novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_016196.3 -1 reviewed p.I568V 0.001 47 0% 32 40.6% 17 47% benign(0) tolerated(1) - NULL RNF10 9921 genome.wustl.edu 37 12 120995114 120995114 + Silent SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_014868.4 +1 reviewed p.C225 1.000 262 0% 226 42.5% 210 40.4% - - - HMMSmart_SM00184,HMMPfam_zf-C3HC4,superfamily_RING/U-box CABP1 9478 genome.wustl.edu 37 12 121093634 121093635 + Frame_Shift_Del DEL GT GT - novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 GT GT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 ENST00000453000 +1 known p.V11fs 0.991:0.982 - - - - - - - - - NULL KNTC1 9735 genome.wustl.edu 37 12 123055607 123055607 + Missense_Mutation SNP G G T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_014708.4 +1 reviewed p.E651D 0.997 238 0% 247 39.3% 2 100% unknown(0) tolerated(0.29) - NULL DNAH10 196385 genome.wustl.edu 37 12 124416371 124416371 + Missense_Mutation SNP A A G novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_207437.3 +1 validated p.K4251E 0.005 148 0% 122 23% 11 0% benign(0.001) tolerated(0.84) neutral(0.001) HMMPfam_Dynein_heavy NCOR2 9612 genome.wustl.edu 37 12 124971112 124971112 + Silent SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_006312.3 -1 validated p.D36 0.988 95 0% 67 47.8% 79 40.5% - - - NULL STX2 2054 genome.wustl.edu 37 12 131286011 131286011 + Silent SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_194356.1 -1 reviewed p.D162 0.240 88 0% 75 18.7% 4 0% - - - superfamily_t-snare proteins SFSWAP 6433 genome.wustl.edu 37 12 132237815 132237815 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_004592.2 +1 reviewed p.T410I 0.101 190 0% 160 12.5% 48 22.9% benign(0.042) tolerated(0.33) neutral(0.026) NULL ANKLE2 23141 genome.wustl.edu 37 12 133303955 133303955 + Missense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_015114.1 -1 validated p.P897L 0.622 76 0% 70 27.1% 72 48.6% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL MIPEP 4285 genome.wustl.edu 37 13 24413829 24413829 + Missense_Mutation SNP T T C novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_005932.2 -1 reviewed p.I433V 1.000 262 0% 189 43.9% 23 65.2% probably_damaging(0.995) tolerated(0.18) deleterious(0.514) HMMPfam_Peptidase_M3,superfamily_SSF55486 NBEA 26960 genome.wustl.edu 37 13 35751179 35751179 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_015678.4 +1 validated p.P1534L 0.998 471 0.2% 433 44.8% 0 - benign(0.006) tolerated(1) - superfamily_ARM repeat WDFY2 115825 genome.wustl.edu 37 13 52333897 52333897 + Missense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_052950.3 +1 reviewed p.V399M 0.998 117 0% 84 28.6% 19 21% possibly_damaging(0.441) deleterious(0.02) deleterious(0.527) NULL HS6ST3 266722 genome.wustl.edu 37 13 97485291 97485291 + Missense_Mutation SNP T T C novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_153456.2 +1 validated p.Y419H 1.000 125 0% 113 13.3% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_HS6ST FARP1 10160 genome.wustl.edu 37 13 99083369 99083369 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_005766.2 +1 reviewed p.R660W 0.998 64 0% 48 50% 49 38.7% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) FARP1 10160 genome.wustl.edu 37 13 99098439 99098441 + In_Frame_Del DEL TTC TTC - novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 TTC TTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_005766.2 +1 reviewed p.F963in_frame_del 1.000:1.000:1.000 - - - - - - - - - HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like F10 2159 genome.wustl.edu 37 13 113803392 113803392 + Missense_Mutation SNP T T C novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_000504.3 +1 reviewed p.L343P 0.998 50 0% 28 21.4% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases GRTP1 79774 genome.wustl.edu 37 13 114009782 114009782 + Missense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_024719.2 -1 validated p.R66W 1.000 56 0% 40 37.5% 13 53.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TBC,HMMSmart_SM00164,superfamily_Ypt/Rab-GAP domain of gyp1p ARHGEF40 55701 genome.wustl.edu 37 14 21557023 21557023 + Missense_Mutation SNP C C A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_018071.3 +1 validated p.P1518H 1.000 265 0% 227 38.8% 21 23.8% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL C14orf176 643382 genome.wustl.edu 37 14 21570651 21570651 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 XM_002343257.1 +1 model p.P61S 0.006 213 0% 171 17% 0 - benign(0.002) tolerated(0.64) neutral(0.003) NULL DCAF11 80344 genome.wustl.edu 37 14 24590630 24590630 + Missense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_025230.4 +1 reviewed p.G435R 1.000 112 0% 83 16.9% 107 22.4% possibly_damaging(0.793) tolerated(0.82) neutral(0.298) HMMSmart_SM00320,superfamily_WD40 repeat-like RABGGTA 5875 genome.wustl.edu 37 14 24737769 24737769 + Silent SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_004581.3 -1 validated p.R319 0.972 138 0% 124 30.6% 71 38% - - - HMMPfam_RabGGT_insert,superfamily_RabGG_trans_A,superfamily_Prenyl_trans PRKD1 5587 genome.wustl.edu 37 14 30103720 30103720 + Silent SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_002742.2 -1 validated p.L406 1.000 663 0% 616 11.9% 9 11.1% - - - NULL COCH 1690 genome.wustl.edu 37 14 31355183 31355183 + Missense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_001135058.1 +1 reviewed p.S381N 0.272 229 0% 178 39.9% 17 41.1% benign(0.389) tolerated(0.31) neutral(0.151) HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like MGAT2 4247 genome.wustl.edu 37 14 50088757 50088757 + Silent SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_002408.3 +1 reviewed p.F257 0.999 196 0% 179 15.6% 29 10.3% - - - HMMPfam_MGAT2,superfamily_Nucleotide-diphospho-sugar transferases KLHDC2 23588 genome.wustl.edu 37 14 50249625 50249625 + Missense_Mutation SNP A A G novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_014315.2 +1 validated p.H392R 1.000 157 0% 155 39.4% 112 51.7% possibly_damaging(0.563) tolerated(0.47) neutral(0.204) NULL TBPL2 387332 genome.wustl.edu 37 14 55903277 55903277 + Splice_Site SNP A A G novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_199047.2 -1 validated e2+2 1.000 200 0% 182 23.1% 0 - - - - - C14orf101 54916 genome.wustl.edu 37 14 57085357 57085357 + Missense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_017799.3 +1 validated p.A368T 1.000 186 0% 178 19.1% 21 19% probably_damaging(1) tolerated(0.13) deleterious(0.752) NULL OTX2 5015 genome.wustl.edu 37 14 57271061 57271061 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_021728.2 -1 reviewed p.A40T 1.000 41 0% 35 48.6% 0 - benign(0) tolerated(0.59) neutral(0.004) superfamily_Homeodomain_like FNTB 2342 genome.wustl.edu 37 14 65499337 65499337 + Nonsense_Mutation SNP C C A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_002028.3 +1 validated p.Y205* 1.000 95 0% 108 22.2% 24 0% - - - HMMPfam_Prenyltrans,superfamily_Terpenoid cyclases/Protein prenyltransferases RAD51B 5890 genome.wustl.edu 37 14 68352688 68352688 + Silent SNP T T C novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_133509.2 +1 reviewed p.C185 1.000 260 0% 254 37.4% 4 0% - - - HMMSmart_SM00382,HMMPfam_Rad51,superfamily_P-loop containing nucleoside triphosphate hydrolases C14orf43 91748 genome.wustl.edu 37 14 74196630 74196630 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_001043318.1 -1 validated p.R603Q 1.000 112 0% 110 44.5% 24 54.1% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL KIAA0317 9870 genome.wustl.edu 37 14 75151249 75151249 + Missense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_001039479.1 -1 validated p.R51W 1.000 112 0% 78 46.2% 6 0% probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL DIO2 1734 genome.wustl.edu 37 14 80669277 80669277 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_001007023.2 -1 reviewed p.A229T 1.000 87 0% 88 39.8% 45 2.2% benign(0.221) tolerated(0.57) neutral(0.028) HMMPfam_T4_deiodinase DYNC1H1 1778 genome.wustl.edu 37 14 102452680 102452680 + Silent SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_001376.4 +1 reviewed p.V706 0.346 81 0% 79 34.2% 39 43.5% - - - HMMPfam_DHC_N1 KLC1 3831 genome.wustl.edu 37 14 104129111 104129111 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_001130107.1 +1 reviewed p.T215M 1.000 13 0% 10 80% 60 46.6% probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_Rab5-bind,superfamily_TPR-like AHNAK2 113146 genome.wustl.edu 37 14 105406202 105406202 + Missense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_138420.2 -1 validated p.R5196C 0.001 137 0% 101 38.6% 21 38% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL AHNAK2 113146 genome.wustl.edu 37 14 105408983 105408983 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_138420.2 -1 validated p.E4269K 0.000 177 0% 194 44.3% 35 45.7% benign(0.21) tolerated(0.73) neutral(0.022) NULL PACS2 23241 genome.wustl.edu 37 14 105833628 105833628 + Missense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_001100913.1 +1 validated p.E168K 1.000 44 0% 28 39.3% 73 41% probably_damaging(0.998) tolerated(0.21) deleterious(0.518) NULL ENSG00000227468 0 genome.wustl.edu 37 14 106066378 106066378 + Splice_Site SNP T T C novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 ENST00000420153 -1 known NULL 0.000 43 0% 34 38.2% 0 - - - - - IGHV2-5 28457 genome.wustl.edu 37 14 106494138 106494138 + Silent SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 ENST00000390597 -1 known p.H118 0.000 317 0% 274 16.8% 5 0% - - - HMMSmart_IGv,superfamily_SSF48726 LOC283685 283685 genome.wustl.edu 37 15 23689139 23689139 + Missense_Mutation SNP T T C novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 XM_002343322.1 -1 model p.R116G 0.000 20 0% 25 32% 0 - probably_damaging(0.968) deleterious(0.01) deleterious(0.816) NULL HERC2 8924 genome.wustl.edu 37 15 28517496 28517496 + Silent SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_004667.4 -1 reviewed p.L316 1.000 90 0% 81 17.3% 5 40% - - - NULL APBA2 321 genome.wustl.edu 37 15 29393925 29393925 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_005503.3 +1 reviewed p.P488S 0.997 74 0% 64 34.4% 10 0% possibly_damaging(0.45) tolerated(0.11) neutral(0.419) HMMPfam_PID,HMMSmart_PTB,superfamily_SSF50729 DISP2 85455 genome.wustl.edu 37 15 40661100 40661100 + Silent SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_033510.1 +1 reviewed p.H929 0.948 56 0% 39 51.3% 0 - - - - superfamily_SSF82866 MGA 23269 genome.wustl.edu 37 15 41961175 41961175 + Missense_Mutation SNP T T C novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_001080541.2 +1 validated p.L28S 0.822 203 0% 152 33.6% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) NULL DUOXA2 405753 genome.wustl.edu 37 15 45409501 45409501 + Missense_Mutation SNP C C T rs181159534 by1000genomes TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_207581.3 +1 reviewed p.T256I 0.989 41 0% 34 32.4% 0 - possibly_damaging(0.812) deleterious(0.01) deleterious(0.711) HMMPfam_DuoxA MYO5A 4644 genome.wustl.edu 37 15 52700261 52700261 + Missense_Mutation SNP C C G novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_000259.3 -1 reviewed p.R278P 0.999 205 0% 195 39.5% 2 0% possibly_damaging(0.443) tolerated(0.23) neutral(0.186) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases RFX7 64864 genome.wustl.edu 37 15 56535451 56535451 + Silent SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_022841.5 -1 validated p.Q11 1.000 62 0% 50 26% 1 0% - - - NULL SKOR1 390598 genome.wustl.edu 37 15 68118968 68118968 + Missense_Mutation SNP A A G novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_001031807.1 +1 provisional p.K259E 1.000 127 0% 80 40% 0 - benign(0.076) deleterious(0) neutral(0.450) superfamily_SAND_like,HMMPfam_c-SKI_SMAD_bind PML 5371 genome.wustl.edu 37 15 74326969 74326969 + Missense_Mutation SNP G G T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_033240.2 +1 reviewed p.R603L 0.000 87 0% 61 42.6% 1 0% unknown(0) - - NULL LOC727963 727963 genome.wustl.edu 37 15 84748703 84748703 + Silent SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 XM_002343381.1 +1 model p.G36 0.004 55 0% 58 29.3% 0 - - - - NULL MFGE8 4240 genome.wustl.edu 37 15 89453093 89453093 + Silent SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_005928.2 -1 validated p.V45 0.000 180 0% 165 35.8% 360 34.7% - - - HMMPfam_EGF,HMMSmart_SM00181,superfamily_EGF/Laminin LRRK1 79705 genome.wustl.edu 37 15 101567895 101567895 + Missense_Mutation SNP G G A rs142470911 by1000genomes TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_024652.3 +1 validated p.R860H 0.997 45 0% 41 41.5% 12 25% benign(0.019) deleterious(0.01) neutral(0.407) NULL AXIN1 8312 genome.wustl.edu 37 16 364545 364545 + Silent SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_003502.2 -1 reviewed p.S339 0.253 90 0% 68 42.6% 46 47.8% - - - NULL DECR2 26063 genome.wustl.edu 37 16 457554 457554 + Missense_Mutation SNP A A G novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_020664.3 +1 validated p.I111V 0.919 290 0% 255 37.6% 32 31.2% benign(0.013) tolerated(0.74) neutral(0.002) HMMPfam_adh_short,superfamily_NAD(P)-binding Rossmann-fold domains GNG13 51764 genome.wustl.edu 37 16 848772 848772 + Missense_Mutation SNP C C T rs186803817 by1000genomes TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_016541.2 -1 validated p.D51N 1.000 176 0% 164 34.8% 0 - benign(0.141) tolerated(0.07) neutral(0.331) HMMPfam_G-gamma,HMMSmart_GGL,superfamily_G-protein_gamma-like BAIAP3 8938 genome.wustl.edu 37 16 1398283 1398283 + Silent SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_003933.3 +1 reviewed p.L1147 1.000 26 0% 18 38.9% 5 60% - - - NULL TSC2 7249 genome.wustl.edu 37 16 2106650 2106650 + Missense_Mutation SNP C C A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 ENST00000382538 +1 known p.P94T 0.932 99 0% 75 42.7% 80 38.7% unknown(0) - - NULL CASKIN1 57524 genome.wustl.edu 37 16 2231893 2231893 + Missense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_020764.3 -1 validated p.A556V 1.000 53 0% 39 25.6% 2 0% benign(0.361) deleterious(0) deleterious(0.559) HMMPfam_SAM_1,HMMSmart_SAM,superfamily_SAM_homology ZSCAN10 84891 genome.wustl.edu 37 16 3142762 3142762 + Silent SNP C C A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_032805.1 -1 provisional p.R4 0.002 15 0.000 8 0.625 0 - unknown(0) - - HMMPfam_SCAN,HMMSmart_SCAN ADCY9 115 genome.wustl.edu 37 16 4165113 4165113 + Nonsense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_001116.2 -1 reviewed p.Q111* 1.000 58 0% 69 37.7% 4 0% - - - NULL C16orf89 146556 genome.wustl.edu 37 16 5105323 5105323 + Silent SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_152459.3 -1 validated p.S302 0.032 49 0% 38 42.1% 0 - - - - NULL EMP2 2013 genome.wustl.edu 37 16 10641402 10641402 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_001424.4 -1 validated p.D25N 0.998 112 0% 137 45.3% 165 44.2% possibly_damaging(0.54) tolerated(0.24) neutral(0.221) HMMPfam_PMP22_Claudin,PatternScan_PMP22_1 UMOD 7369 genome.wustl.edu 37 16 20357599 20357599 + Missense_Mutation SNP A A G novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_001008389.1 -1 reviewed p.L344P 0.995 84 0% 84 52.4% 0 - probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMPfam_Zona_pellucida,HMMSmart_SM00241 TNRC6A 27327 genome.wustl.edu 37 16 24802006 24802006 + Silent SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_014494.2 +1 reviewed p.R681 1.000 207 0% 171 41.5% 7 57.1% - - - NULL TNRC6A 27327 genome.wustl.edu 37 16 24802899 24802899 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_014494.2 +1 reviewed p.A979V 0.033 27 0% 34 38.2% 3 66.6% benign(0.001) tolerated(0.29) neutral(0.029) NULL IL4R 3566 genome.wustl.edu 37 16 27363943 27363943 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_000418.2 +1 reviewed p.A199V 0.029 144 0% 128 49.2% 13 53.8% benign(0.221) deleterious(0.01) neutral(0.428) PatternScan_HEMATOPO_REC_S_F1,superfamily_Fibronectin type III COX6A2 1339 genome.wustl.edu 37 16 31439130 31439130 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_005205.2 -1 reviewed p.V87M 0.114 77 0% 52 46.2% 0 - benign(0.043) tolerated(0.07) neutral(0.322) HMMPfam_COX6A,superfamily_COX6A PHKB 5257 genome.wustl.edu 37 16 47497889 47497889 + Missense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_001031835.2 +1 reviewed p.A14T 0.137 383 0% 305 37.7% 30 40% benign(0) tolerated(0.12) neutral(0.261) NULL RLTPR 146206 genome.wustl.edu 37 16 67688344 67688344 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_001013838.1 +1 provisional p.R1111W 0.939 60 0% 45 40% 2 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL CDH3 1001 genome.wustl.edu 37 16 68718593 68718593 + Silent SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_001793.4 +1 reviewed p.H430 0.000 155 0% 123 39.8% 63 39.6% - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like CHTF8 54921 genome.wustl.edu 37 16 69154299 69154299 + Silent SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 ENST00000306585 -1 known p.R11 1.000 296 0% 310 41% 99 39.3% - - - NULL ZFHX3 463 genome.wustl.edu 37 16 72992124 72992124 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_006885.3 -1 reviewed p.E641K 1.000 78 0% 85 45.9% 7 42.8% unknown(0) - - HMMSmart_SM00355 NECAB2 54550 genome.wustl.edu 37 16 84034339 84034339 + Missense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_019065.2 +1 provisional p.V325M 0.900 241 0.4% 208 14.9% 1 0% benign(0.024) tolerated(0.14) neutral(0.251) HMMPfam_ABM,superfamily_Dimer_A_B_barrel USP10 9100 genome.wustl.edu 37 16 84806233 84806233 + Silent SNP T T G novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_005153.2 +1 reviewed p.G695 0.988 346 0% 304 36.5% 33 30.3% - - - HMMPfam_UCH,superfamily_SSF54001 CDK10 8558 genome.wustl.edu 37 16 89757898 89757898 + Missense_Mutation SNP C C T rs184050237 by1000genomes TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_052988.4 +1 reviewed p.R94C 0.993 95 0% 65 40% 42 45.2% possibly_damaging(0.884) deleterious(0) deleterious(0.789) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase CTC1 80169 genome.wustl.edu 37 17 8132526 8132526 + Splice_Site SNP T T C novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_025099.5 -1 validated e20-2 0.986 198 0% 161 39.8% 3 66.6% - - - - PIRT 644139 genome.wustl.edu 37 17 10728852 10728852 + Silent SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_001101387.1 -1 validated p.S37 1.000 92 0% 76 30.3% 0 - - - - NULL SHISA6 388336 genome.wustl.edu 37 17 11145245 11145245 + Missense_Mutation SNP C C A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_207386.3 +1 validated p.P169Q 1.000 35 0% 26 50% 0 - probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL ZNF286A 57335 genome.wustl.edu 37 17 15620340 15620340 + Silent SNP A A G novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_001130842.1 +1 validated p.G434 1.000 314 0% 280 41.4% 2 50% - - - superfamily_SSF57667 KSR1 8844 genome.wustl.edu 37 17 25924382 25924382 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_014238.1 +1 validated p.P326L 0.837 357 0% 324 37.3% 8 37.5% benign(0) tolerated(0.36) neutral(0.020) NULL CCL4 6351 genome.wustl.edu 37 17 34431945 34431945 + Missense_Mutation SNP G G T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_002984.2 +1 validated p.C34F 1.000 330 0% 253 32.4% 5 0% probably_damaging(1) deleterious(0) deleterious(0.945) PatternScan_SMALL_CYTOKINES_CC,HMMPfam_IL8,HMMSmart_SCY,superfamily_Chemokine_IL8 GPR179 440435 genome.wustl.edu 37 17 36485282 36485282 + Missense_Mutation SNP C C A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_001004334.2 -1 validated p.E1390D 0.000 97 0% 99 49.5% 0 - benign(0.239) deleterious(0.01) neutral(0.430) NULL C17orf98 388381 genome.wustl.edu 37 17 36997511 36997511 + Silent SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_001080465.2 -1 validated p.N44 0.956 58 0% 62 46.8% 0 - - - - NULL IKZF3 22806 genome.wustl.edu 37 17 37922736 37922736 + Silent SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 ENST00000439016 -1 known p.A233V 0.908 81 0% 59 44.1% 3 0% - - - NULL JUP 3728 genome.wustl.edu 37 17 39923649 39923649 + Silent SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_002230.2 -1 reviewed p.Y297 0.007 86 0% 77 35.1% 680 43.3% - - - HMMSmart_ARM,superfamily_ARM-type_fold KLHL11 55175 genome.wustl.edu 37 17 40010042 40010042 + Missense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_018143.1 -1 provisional p.R693C 1.000 203 0% 181 44.8% 8 12.5% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL TMEM106A 113277 genome.wustl.edu 37 17 41367829 41367829 + Missense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_145041.1 +1 provisional p.V100M 0.907 459 0% 396 38.1% 4 50% probably_damaging(0.996) tolerated(0.06) deleterious(0.784) HMMPfam_DUF1356 CRHR1 1394 genome.wustl.edu 37 17 43906636 43906636 + Missense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_001145146.1 +1 reviewed p.C128Y 1.000 236 0% 169 36.1% 0 - probably_damaging(0.98) deleterious(0.01) deleterious(0.830) HMMPfam_7tm_2 ITGB3 3690 genome.wustl.edu 37 17 45368326 45368326 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_000212.2 +1 reviewed p.R378C 1.000 192 0% 154 38.3% 11 27.2% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Integrin_beta,HMMSmart_SM00187,superfamily_vWA-like,superfamily_Integrin domains TBX21 30009 genome.wustl.edu 37 17 45822393 45822393 + Missense_Mutation SNP G G T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_013351.1 +1 reviewed p.Q423H 0.832 39 0% 33 39.4% 3 0% benign(0.345) tolerated(0.16) neutral(0.168) NULL KIF2B 84643 genome.wustl.edu 37 17 51901904 51901904 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_032559.4 +1 validated p.R504W 0.971 163 0% 138 48.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases PRR11 55771 genome.wustl.edu 37 17 57272731 57272731 + Missense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_018304.2 +1 validated p.V262I 0.991 216 0% 207 36.7% 16 43.7% benign(0.024) tolerated(0.45) neutral(0.013) NULL CLTC 1213 genome.wustl.edu 37 17 57762561 57762561 + Silent SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_004859.3 +1 reviewed p.L1527 1.000 187 0% 152 36.2% 210 44.2% - - - HMMPfam_Clathrin,HMMSmart_SM00299 RGS9 8787 genome.wustl.edu 37 17 63189723 63189723 + Missense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_003835.3 +1 reviewed p.S270N 1.000 260 0% 188 30.3% 0 - possibly_damaging(0.451) deleterious(0) deleterious(0.592) HMMPfam_G-gamma,HMMSmart_SM00224,superfamily_Transducin (heterotrimeric G protein) gamma chain GRIN2C 2905 genome.wustl.edu 37 17 72844061 72844061 + Silent SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_000835.3 -1 reviewed p.V567 1.000 154 0% 125 45.6% 0 - - - - HMMPfam_Lig_chan,HMMSmart_SM00079,superfamily_Periplasmic binding protein-like II RNF213 57674 genome.wustl.edu 37 17 78311744 78311744 + Silent SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 ENST00000508628 +1 known p.L1594 1.000 291 0% 221 15.8% 8 0% - - - NULL EMILIN2 84034 genome.wustl.edu 37 18 2913198 2913199 + Frame_Shift_Del DEL GA GA - novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 GA GA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_032048.2 +1 validated p.E988fs 0.980:0.996 - - - - - - - - - superfamily_TNF_like SLC35G4 646000 genome.wustl.edu 37 18 11609832 11609832 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 XM_928960.2 +1 model p.H80Y 0.990 382 0.3% 317 38.2% 0 - possibly_damaging(0.797) tolerated(0.29) neutral(0.329) HMMPfam_DUF6 SEH1L 81929 genome.wustl.edu 37 18 12955522 12955522 + Missense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_001013437.1 +1 reviewed p.A75T 1.000 341 0% 314 40.1% 35 45.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 CDH2 1000 genome.wustl.edu 37 18 25532205 25532205 + Missense_Mutation SNP C C A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_001792.3 -1 reviewed p.S878I 1.000 248 0% 196 13.8% 30 10% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Cadherin_C ASXL3 80816 genome.wustl.edu 37 18 31325494 31325494 + Silent SNP C C G novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_030632.1 +1 provisional p.V1894 1.000 113 0% 118 33.1% 0 - - - - NULL FHOD3 80206 genome.wustl.edu 37 18 34335182 34335182 + Missense_Mutation SNP T T C novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_025135.2 +1 validated p.Y1270H 1.000 345 0% 286 13.6% 10 0% possibly_damaging(0.918) deleterious(0) deleterious(0.813) HMMSmart_FH2,HMMPfam_FH2,superfamily_FH2_actin_bd ZNF532 55205 genome.wustl.edu 37 18 56651250 56651250 + Missense_Mutation SNP G G T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_018181.4 +1 validated p.R1153M 1.000 210 0% 180 41.7% 30 40% possibly_damaging(0.848) tolerated(0.08) deleterious(0.625) NULL KIAA1468 57614 genome.wustl.edu 37 18 59912058 59912058 + Missense_Mutation SNP A A G novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_020854.3 +1 validated p.Q561R 1.000 318 0% 295 35.3% 8 50% probably_damaging(0.992) tolerated(0.16) deleterious(0.507) superfamily_ARM repeat KCNG2 26251 genome.wustl.edu 37 18 77659481 77659481 + Missense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_012283.1 +1 reviewed p.V356M 1.000 29 0% 28 28.6% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMPfam_Ion_trans,superfamily_SSF81324 ARID3A 1820 genome.wustl.edu 37 19 968403 968403 + Splice_Site SNP A A G novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_005224.2 +1 reviewed e7-2 0.999 78 0% 57 36.8% 1 0% - - - - PCSK4 54760 genome.wustl.edu 37 19 1487673 1487673 + Missense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_017573.3 -1 validated p.A204V 1.000 43 0% 46 41.3% 1 0% benign(0.322) deleterious(0) deleterious(0.545) HMMPfam_Peptidase_S8,PatternScan_SUBTILASE_HIS,superfamily_Subtilisin-like TJP3 27134 genome.wustl.edu 37 19 3740725 3740725 + Missense_Mutation SNP C C A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_014428.1 +1 provisional p.R636S 0.061 15 0% 15 40% 119 26.8% benign(0.008) deleterious(0.01) neutral(0.406) HMMSmart_SM00072,superfamily_P-loop containing nucleoside triphosphate hydrolases STAP2 55620 genome.wustl.edu 37 19 4328707 4328707 + Silent SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_017720.2 -1 reviewed p.D185 0.391 22 0% 19 36.8% 143 39.8% - - - superfamily_SH2 domain ARRDC5 645432 genome.wustl.edu 37 19 4891232 4891232 + Silent SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_001080523.1 -1 provisional p.D285 0.000 127 0% 131 46.6% 0 - - - - HMMPfam_Arrestin_C,superfamily_E set domains ARHGEF18 23370 genome.wustl.edu 37 19 7505040 7505040 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_001130955.1 +1 reviewed p.R72C 0.074 28 0% 35 20% 0 - benign(0.004) deleterious(0) neutral(0.445) NULL CAMSAP3 57662 genome.wustl.edu 37 19 7682656 7682656 + Missense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_001080429.2 +1 validated p.A1182T 1.000 38 0% 33 45.5% 51 43.1% benign(0.102) deleterious(0) neutral(0.453) superfamily_PRC-barrel domain,HMMPfam_DUF1781 PRAM1 84106 genome.wustl.edu 37 19 8563890 8563890 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_032152.3 -1 reviewed p.A268T 0.000 59 0% 50 28% 1 0% benign(0) tolerated(0.57) neutral(0.006) NULL CCDC151 115948 genome.wustl.edu 37 19 11531869 11531869 + Silent SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_145045.4 -1 validated p.S534 0.000 220 0.5% 203 40.4% 0 - - - - NULL PRDX2 7001 genome.wustl.edu 37 19 12911043 12911043 + Missense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_005809.4 -1 reviewed p.R110C 0.189 71 0% 49 40.8% 729 44.8% benign(0.164) tolerated(0.12) neutral(0.276) HMMPfam_AhpC-TSA,superfamily_Thioredoxin-like ZNF333 84449 genome.wustl.edu 37 19 14829644 14829644 + Missense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_032433.2 +1 validated p.R502K 1.000 110 0.9% 111 34.2% 7 14.2% possibly_damaging(0.645) deleterious(0.01) deleterious(0.632) superfamily_SSF57667 FAM129C 199786 genome.wustl.edu 37 19 17643081 17643081 + Silent SNP C C A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_173544.4 +1 validated p.R97 0.965 66 0% 53 47.2% 1 100% - - - superfamily_PH domain-like URI1 8725 genome.wustl.edu 37 19 30503327 30503327 + Silent SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_003796.2 +1 reviewed p.L438 0.893 219 0% 176 43.2% 77 45.4% - - - NULL TSHZ3 57616 genome.wustl.edu 37 19 31767980 31767980 + Missense_Mutation SNP G G T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_020856.2 -1 validated p.Q907K 1.000 89 0% 83 42.2% 4 0% possibly_damaging(0.643) deleterious(0) deleterious(0.670) HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like USF2 7392 genome.wustl.edu 37 19 35760579 35760579 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_003367.2 +1 reviewed p.R69C 1.000 22 0% 22 54.5% 179 39.1% probably_damaging(1) deleterious(0) deleterious(0.945) NULL NPHS1 4868 genome.wustl.edu 37 19 36336316 36336316 + Silent SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_004646.3 -1 reviewed p.A628 0.000 35 0% 35 28.6% 0 - - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_C2-set_2,superfamily_Immunoglobulin KIRREL2 84063 genome.wustl.edu 37 19 36352463 36352463 + Missense_Mutation SNP C C A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_199180.2 +1 validated p.L404M 0.998 137 0% 103 11.7% 0 - probably_damaging(0.976) deleterious(0.02) deleterious(0.801) HMMSmart_SM00409,superfamily_Immunoglobulin CLIP3 25999 genome.wustl.edu 37 19 36517548 36517548 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_015526.1 -1 provisional p.A168T 1.000 79 0% 66 37.9% 15 6.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat COX7A1 1346 genome.wustl.edu 37 19 36642647 36642647 + Missense_Mutation SNP G G T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_001864.2 -1 reviewed p.A9E 0.004 62 0% 38 39.5% 29 0% probably_damaging(0.957) deleterious(0.04) deleterious(0.750) NULL SAMD4B 55095 genome.wustl.edu 37 19 39871333 39871333 + Missense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_018028.2 +1 provisional p.G586S 0.813 10 0% 14 35.7% 57 10.5% benign(0.003) tolerated(0.51) neutral(0.009) NULL PLEKHG2 64857 genome.wustl.edu 37 19 39913534 39913534 + Missense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_022835.2 +1 validated p.V614I 0.932 69 0% 61 39.3% 26 19.2% possibly_damaging(0.631) deleterious(0) deleterious(0.665) NULL PRX 57716 genome.wustl.edu 37 19 40902660 40902660 + Silent SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_181882.2 -1 reviewed p.V533 0.924 68 0% 64 34.4% 0 - - - - NULL CCDC97 90324 genome.wustl.edu 37 19 41828581 41828581 + Silent SNP A A G novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_052848.1 +1 provisional p.E331 0.869 161 0% 126 35.7% 63 39.6% - - - NULL CIC 23152 genome.wustl.edu 37 19 42795134 42795134 + Silent SNP C C A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_015125.3 +1 validated p.T738 0.995 19 0% 18 50% 40 32.5% - - - NULL MEGF8 1954 genome.wustl.edu 37 19 42848154 42848154 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_001410.2 +1 validated p.R573W 0.999 74 0% 66 39.4% 14 35.7% probably_damaging(0.997) deleterious(0.02) deleterious(0.849) HMMSmart_PSI CEACAM19 56971 genome.wustl.edu 37 19 45179563 45179563 + Missense_Mutation SNP A A G novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_020219.3 +1 validated p.S149G 0.000 119 0% 94 44.7% 2 50% benign(0.002) tolerated(0.45) neutral(0.012) NULL CLASRP 11129 genome.wustl.edu 37 19 45563845 45563845 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_007056.2 +1 validated p.R275W 1.000 88 0% 78 32.1% 24 37.5% unknown(0) deleterious(0) - NULL NKPD1 284353 genome.wustl.edu 37 19 45656197 45656197 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_198478.3 -1 inferred p.A278T 0.979 12 0% 11 45.5% 0 - benign(0.018) tolerated(0.21) neutral(0.044) HMMPfam_KAP_NTPase PPP5C 5536 genome.wustl.edu 37 19 46893580 46893580 + Silent SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_006247.2 +1 provisional p.L493 1.000 134 0% 85 31.8% 135 42.2% - - - superfamily_Metallo-dependent phosphatases ARHGAP35 2909 genome.wustl.edu 37 19 47424526 47424540 + In_Frame_Del DEL CCTCTTTGGCTATGT CCTCTTTGGCTATGT - novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 CCTCTTTGGCTATGT CCTCTTTGGCTATGT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_004491.4 +1 reviewed p.ASLAML865in_frame_delV 1.000:1.000:1.000:1.000:0.992:0.992:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.992 - - - - - - - - - NULL PPP1R15A 23645 genome.wustl.edu 37 19 49379179 49379179 + Silent SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_014330.3 +1 validated p.R658 0.000 63 0% 47 42.6% 181 39.2% - - - NULL HRC 3270 genome.wustl.edu 37 19 49657496 49657496 + Silent SNP T T C novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_002152.2 -1 reviewed p.S333 0.013 421 0% 392 17.1% 2 0% - - - HMMPfam_Hist_rich_Ca-bd TEAD2 8463 genome.wustl.edu 37 19 49862735 49862735 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_003598.1 -1 provisional p.R85H 1.000 270 0.7% 196 35.7% 88 43.1% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_TEA,HMMSmart_TEA,PatternScan_TEA_1 ALDH16A1 126133 genome.wustl.edu 37 19 49967456 49967456 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_153329.3 +1 reviewed p.P423S 0.876 42 0% 35 45.7% 82 35.3% probably_damaging(1) tolerated(0.47) deleterious(0.511) HMMPfam_Aldedh,superfamily_ALDH-like SIGLEC11 114132 genome.wustl.edu 37 19 50463829 50463829 + Missense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_052884.2 -1 validated p.A147V 0.000 216 0.5% 155 18.1% 0 - benign(0.001) tolerated(0.24) neutral(0.037) HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin KLK10 5655 genome.wustl.edu 37 19 51519333 51519333 + Missense_Mutation SNP C C A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_001077500.1 -1 reviewed p.V117F 0.000 49 0% 36 30.6% 33 33.3% benign(0) tolerated(0.72) neutral(0.002) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases ZNF611 81856 genome.wustl.edu 37 19 53209631 53209631 + Missense_Mutation SNP A A G novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_030972.3 -1 validated p.M226T 0.421 341 0% 404 41.6% 3 33.3% benign(0.001) tolerated(1) - superfamily_C2H2 and C2HC zinc fingers ZNF765 91661 genome.wustl.edu 37 19 53911669 53911669 + Silent SNP A A T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_001040185.1 +1 provisional p.T287 0.000 166 0% 179 41.9% 6 33.3% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers SLC4A11 83959 genome.wustl.edu 37 20 3209351 3209351 + Missense_Mutation SNP A A G novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_032034.3 -1 reviewed p.I748T 0.997 34 0% 45 28.9% 34 61.7% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_HCO3_cotransp DLGAP4 22839 genome.wustl.edu 37 20 35060658 35060658 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_014902.4 +1 reviewed p.R180W 1.000 19 0% 36 50% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL RIMS4 140730 genome.wustl.edu 37 20 43384832 43384832 + Silent SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_182970.2 -1 validated p.R251 1.000 39 0% 50 20% 0 - - - - NULL WFDC5 149708 genome.wustl.edu 37 20 43738576 43738576 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 ENST00000307971 -1 known p.A158T 0.580 126 0% 95 38.9% 0 - benign(0.001) tolerated(0.05) neutral(0.345) NULL SLC35C2 51006 genome.wustl.edu 37 20 44983551 44983551 + Nonsense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 ENST00000372223 -1 known p.W165* 1.000 123 0% 101 32.7% 59 52.5% - - - NULL C20orf123 128506 genome.wustl.edu 37 20 45170455 45170455 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 XM_002343721.1 -1 model p.A381T 0.000 17 0% 18 55.6% 0 - possibly_damaging(0.565) tolerated(0.6) neutral(0.198) HMMPfam_DC_STAMP SALL4 57167 genome.wustl.edu 37 20 50407931 50407931 + Missense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_020436.3 -1 reviewed p.P364L 0.098 121 0% 98 44.9% 0 - probably_damaging(0.98) deleterious(0) deleterious(0.869) NULL TSHZ2 128553 genome.wustl.edu 37 20 51870611 51870611 + Missense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_173485.4 +1 validated p.C205Y 1.000 86 0% 68 29.4% 5 20% benign(0) tolerated(1) - NULL YTHDF1 54915 genome.wustl.edu 37 20 61833787 61833787 + Missense_Mutation SNP A A G novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_017798.3 -1 validated p.V502A 1.000 399 0.3% 329 18.2% 38 21% probably_damaging(0.968) deleterious(0.01) deleterious(0.816) HMMPfam_YTH GRIK1 2897 genome.wustl.edu 37 21 30953854 30953854 + Silent SNP G G T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_000830.3 -1 reviewed p.P601 1.000 193 0% 197 39.1% 0 - - - - HMMPfam_Lig_chan,HMMSmart_SM00079,superfamily_Periplasmic binding protein-like II TIAM1 7074 genome.wustl.edu 37 21 32492822 32492822 + Missense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_003253.2 -1 validated p.A1547V 0.976 96 0% 84 15.5% 12 0% benign(0) deleterious(0.01) neutral(0.406) NULL SYNJ1 8867 genome.wustl.edu 37 21 34072284 34072284 + Missense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_003895.3 -1 validated p.R115C 1.000 169 0% 126 45.2% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Syja_N SLC19A1 6573 genome.wustl.edu 37 21 46951391 46951391 + Silent SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 ENST00000417954 -1 known p.T22M 1.000 33 3% 18 38.9% 25 4% - - - HMMPfam_Folate_carrier COL6A2 1292 genome.wustl.edu 37 21 47545866 47545866 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_001849.3 +1 reviewed p.R713C 1.000 52 0% 62 43.5% 387 0% possibly_damaging(0.796) - - HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like LOC100288508 100288508 genome.wustl.edu 37 21 47546392 47546393 + In_Frame_Ins INS - - CCCGGCCCGGCGCGT novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 XM_002343757.1 -1 model p.184in_frame_insTRRAG 0.002:0.025 - - - - - - - - - NULL DGCR8 54487 genome.wustl.edu 37 22 20077734 20077734 + Missense_Mutation SNP T T C novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_022720.5 +1 validated p.L420P 1.000 60 0% 47 21.3% 13 7.6% benign(0.214) tolerated(0.06) neutral(0.344) NULL RTDR1 27156 genome.wustl.edu 37 22 23401731 23401731 + Missense_Mutation SNP A A G novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_014433.2 -1 reviewed p.M319T 0.001 114 0% 87 36.8% 0 - benign(0.001) tolerated(0.36) neutral(0.020) NULL SRRD 402055 genome.wustl.edu 37 22 26884164 26884165 + Frame_Shift_Del DEL GT GT - novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 GT GT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_001013694.2 +1 validated p.C143fs 1.000:1.000 - - - - - - - - - HMMPfam_SRR1 SMTN 6525 genome.wustl.edu 37 22 31486113 31486113 + Missense_Mutation SNP A A G novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_134270.1 +1 reviewed p.E271G 0.997 110 0% 103 14.6% 29 20.6% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL SLC5A4 6527 genome.wustl.edu 37 22 32630892 32630892 + Missense_Mutation SNP T T C novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_014227.2 -1 validated p.I285V 0.050 105 0% 89 22.5% 1 0% benign(0.001) tolerated(0.26) neutral(0.034) HMMPfam_SSF CDC42EP1 11135 genome.wustl.edu 37 22 37962729 37962729 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_152243.2 +1 reviewed p.L125F 1.000 142 0% 131 21.4% 194 21.6% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL H1F0 3005 genome.wustl.edu 37 22 38201781 38201781 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_005318.3 +1 reviewed p.T77I 1.000 107 0% 89 51.7% 307 43.9% benign(0.424) tolerated(0.1) neutral(0.424) "HMMPfam_Linker_histone,HMMSmart_SM00526,superfamily_""Winged helix"" DNA-binding domain" CBX7 23492 genome.wustl.edu 37 22 39530030 39530030 + Missense_Mutation SNP G G C novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_175709.3 -1 validated p.P208A 0.989 56 0% 63 41.3% 1 0% benign(0.038) deleterious(0.01) neutral(0.408) NULL NAGA 4668 genome.wustl.edu 37 22 42463260 42463260 + Missense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_000262.2 -1 reviewed p.A120V 0.028 128 0% 122 32.8% 66 34.8% possibly_damaging(0.437) tolerated(0.06) neutral(0.465) superfamily_Glyco_hydro_cat PRR5 55615 genome.wustl.edu 37 22 45132772 45132772 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_181333.2 +1 reviewed p.A271V 0.001 7 0.000 5 0.800 33 27.2% benign(0.01) tolerated(0.51) neutral(0.009) NULL CRELD2 79174 genome.wustl.edu 37 22 50313456 50313456 + Missense_Mutation SNP G G T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_024324.3 +1 validated p.Q97H 0.827 154 0% 125 40% 88 36.3% benign(0) tolerated(1) - NULL HDAC10 83933 genome.wustl.edu 37 22 50686525 50686525 + Silent SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_032019.5 -1 validated p.R377 0.000 32 0% 13 38.5% 39 41% - - - superfamily_Arginase/deacetylase MAPK8IP2 23542 genome.wustl.edu 37 22 51042077 51042077 + Missense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 ENST00000329492 +1 known p.G157D 0.881 31 0% 22 40.9% 2 0% possibly_damaging(0.895) deleterious(0.01) deleterious(0.758) NULL GPM6B 2824 genome.wustl.edu 37 X 13791103 13791103 + Missense_Mutation SNP T T C novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_001001995.1 -1 reviewed p.D295G 1.000 445 0% 430 40.9% 25 100% benign(0.005) tolerated(0.05) neutral(0.345) HMMPfam_Myelin_PLP ZRSR2 8233 genome.wustl.edu 37 X 15838412 15838412 + Missense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_005089.3 +1 reviewed p.V304M 1.000 357 0% 301 21.3% 25 12% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL FAM47A 158724 genome.wustl.edu 37 X 34148214 34148214 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_203408.3 -1 validated p.D728N 0.001 390 0% 372 37.6% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL FAM47B 170062 genome.wustl.edu 37 X 34961523 34961523 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_152631.2 +1 validated p.P192L 0.516 57 0% 73 45.2% 0 - probably_damaging(0.996) tolerated(0.05) deleterious(0.807) NULL FAM47B 170062 genome.wustl.edu 37 X 34961705 34961705 + Missense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_152631.2 +1 validated p.E253K 0.128 86 0% 92 35.9% 0 - benign(0.006) tolerated(0.42) neutral(0.014) NULL SRPX 8406 genome.wustl.edu 37 X 38019347 38019347 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_006307.4 -1 validated p.G293D 1.000 114 0.9% 88 38.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain BCOR 54880 genome.wustl.edu 37 X 39922122 39922122 + Silent SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 ENST00000427012 -1 known p.T45I 1.000 488 0.2% 336 47.6% 18 100% - - - NULL MAOB 4129 genome.wustl.edu 37 X 43656379 43656379 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_000898.4 -1 reviewed p.G204E 1.000 191 0% 180 22.8% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Amino_oxidase,superfamily_FAD/NAD(P)-binding domain DUSP21 63904 genome.wustl.edu 37 X 44703624 44703624 + Silent SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_022076.3 +1 reviewed p.Y82 0.002 208 0% 208 37.5% 0 - - - - HMMPfam_DSPc,HMMSmart_DSPc,superfamily_SSF52799 ZNF81 347344 genome.wustl.edu 37 X 47775781 47775781 + Missense_Mutation SNP A A G novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_007137.3 +1 reviewed p.E579G 1.000 218 0% 176 42% 0 - possibly_damaging(0.725) deleterious(0) deleterious(0.708) superfamily_SSF57667 SLC38A5 92745 genome.wustl.edu 37 X 48319117 48319117 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_033518.2 -1 validated p.S329N 0.963 75 0% 50 18% 3 0% benign(0.021) tolerated(0.23) neutral(0.043) HMMPfam_Aa_trans GPKOW 27238 genome.wustl.edu 37 X 48976078 48976078 + Missense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 ENST00000327905 -1 known p.H173Y 1.000 150 0% 114 47.4% 41 0% - - - NULL GAGE8 100101629 genome.wustl.edu 37 X 49208300 49208300 + Missense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_012196.1 +1 reviewed p.R10Q 0.000 1557 0.1% 1500 7.9% 0 - probably_damaging(0.978) tolerated(0.42) neutral(0.434) HMMPfam_GAGE SMC1A 8243 genome.wustl.edu 37 X 53432426 53432426 + Missense_Mutation SNP T T C novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_006306.2 -1 reviewed p.K637R 1.000 51 0% 68 45.6% 37 27% possibly_damaging(0.92) tolerated(0.27) neutral(0.404) HMMPfam_SMC_N,superfamily_SMC_hinge,superfamily_SSF52540 PAGE5 90737 genome.wustl.edu 37 X 55247058 55247058 + Missense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_130467.3 +1 reviewed p.R9H 0.003 133 0% 110 23.6% 0 - possibly_damaging(0.756) - - NULL AR 367 genome.wustl.edu 37 X 66863242 66863242 + Silent SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_000044.2 +1 reviewed p.A587 0.061 248 0% 221 42.1% 1 0% - - - HMMPfam_zf-C4,HMMSmart_SM00399,superfamily_Glucocorticoid receptor-like (DNA-binding domain) KIF4A 24137 genome.wustl.edu 37 X 69607097 69607097 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_012310.4 +1 reviewed p.R728W 1.000 272 0.4% 211 41.2% 13 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CHIC1 53344 genome.wustl.edu 37 X 72783203 72783203 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_001039840.2 +1 validated p.S28L 0.998 22 0% 13 46.2% 4 0% unknown(0) deleterious(0.01) - NULL BRWD3 254065 genome.wustl.edu 37 X 79988955 79988955 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_153252.4 -1 reviewed p.S376N 1.000 225 0% 217 41% 5 0% possibly_damaging(0.878) deleterious(0.02) deleterious(0.725) HMMSmart_SM00320,superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase,HMMPfam_WD40 TRMT2B 79979 genome.wustl.edu 37 X 100276155 100276155 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_024917.5 -1 reviewed p.R334Q 0.000 315 0.6% 285 40.4% 11 63.6% benign(0.033) tolerated(1) neutral(0.002) superfamily_S-adenosyl-L-methionine-dependent methyltransferases MORC4 79710 genome.wustl.edu 37 X 106186065 106186067 + In_Frame_Del DEL CTT CTT - novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_024657.4 -1 reviewed p.E685in_frame_del 0.320:0.343:0.366 - - - - - - - - - NULL MID2 11043 genome.wustl.edu 37 X 107084522 107084522 + Silent SNP T T C novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_012216.3 +1 reviewed p.S209 1.000 63 0% 42 11.9% 9 0% - - - HMMPfam_zf-B_box,HMMSmart_SM00336,superfamily_B-box zinc-binding domain LOC100288324 100288324 genome.wustl.edu 37 X 110653417 110653417 + Missense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 XM_002343839.1 +1 model p.V206I 1.000 404 0% 397 38.5% 4 100% - - - NULL AMOT 154796 genome.wustl.edu 37 X 112065826 112065826 + Nonsense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_001113490.1 -1 reviewed p.R177* 1.000 394 0.5% 312 46.8% 5 100% - - - NULL SLC6A14 11254 genome.wustl.edu 37 X 115588909 115588909 + Missense_Mutation SNP A A G novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_007231.3 +1 reviewed p.I583M 0.171 498 0% 432 41% 7 14.2% benign(0.008) tolerated(0.13) neutral(0.253) HMMPfam_SNF NKAP 79576 genome.wustl.edu 37 X 119070643 119070643 + Missense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_024528.3 -1 reviewed p.S157F 1.000 205 0% 187 41.2% 17 88.2% unknown(0) deleterious(0) - NULL ODZ1 10178 genome.wustl.edu 37 X 123519701 123519701 + Missense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_014253.3 -1 reviewed p.H1961Y 0.973 306 0% 231 41.1% 0 - benign(0) tolerated(1) - NULL ODZ1 10178 genome.wustl.edu 37 X 123699281 123699281 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_014253.3 -1 reviewed p.C736Y 1.000 269 0.4% 251 37.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_EGF,HMMPfam_EGF_2 BCORL1 63035 genome.wustl.edu 37 X 129147462 129147462 + Silent SNP A A G novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_021946.3 +1 reviewed p.P238 0.999 227 0% 248 35.1% 4 0% - - - NULL RBMX2 51634 genome.wustl.edu 37 X 129546701 129546701 + Missense_Mutation SNP G G A novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_016024.2 +1 validated p.R283H 0.000 153 0% 128 39.8% 25 96% unknown(0) tolerated(0.33) - NULL ZIC3 7547 genome.wustl.edu 37 X 136649225 136649225 + Silent SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_003413.3 +1 reviewed p.S125 0.334 17 0.000 8 0.625 0 - - - - NULL MAMLD1 10046 genome.wustl.edu 37 X 149638421 149638421 + Missense_Mutation SNP T T G novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_005491.3 +1 reviewed p.N192K 0.067 69 0% 61 34.4% 0 - benign(0.273) deleterious(0.02) neutral(0.412) NULL NSDHL 50814 genome.wustl.edu 37 X 152031181 152031181 + Silent SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_001129765.1 +1 reviewed p.G152 0.000 398 0.3% 332 40.1% 23 0% - - - HMMPfam_3Beta_HSD,superfamily_NAD(P)-bd IDH3G 3421 genome.wustl.edu 37 X 153055275 153055275 + Missense_Mutation SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_004135.2 -1 reviewed p.A80T 0.999 95 1.1% 95 34.7% 104 82.6% benign(0.005) tolerated(0.17) neutral(0.059) HMMPfam_Iso_dh,superfamily_SSF53659 HCFC1 3054 genome.wustl.edu 37 X 153218062 153218062 + Silent SNP C C T novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 ENST00000444191 -1 known p.G190S 0.728 22 0% 17 58.8% 42 80.9% - - - NULL HCFC1 3054 genome.wustl.edu 37 X 153221675 153221675 + Silent SNP T T C novel TCGA-D1-A163-01A-11D-A12J-09 TCGA-D1-A163-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a96aecb-6410-4641-b335-09667ea0b460 8b8f63d6-a98e-48af-bd1b-ea0ba51e5c84 NM_005334.2 -1 reviewed p.A941 0.001 142 0% 109 38.5% 47 2.1% - - - NULL