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 MEGF6 1953 genome.wustl.edu 37 1 3421802 3421802 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001409.3 -1 validated p.A720T 0.125 20 0% 15 26.7% 7 28.5% possibly_damaging(0.666) tolerated(0.11) deleterious(0.508) HMMSmart_SM00180,HMMSmart_SM00181 NPHP4 261734 genome.wustl.edu 37 1 5924553 5924553 + Silent SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_015102.2 -1 reviewed p.L1281 0.918 32 0% 31 38.7% 13 46.1% - - - NULL RPL22 6146 ucsc.edu 37 1 6257785 6257785 + Frame_Shift_Del DEL T - - novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_000983.3 -1 reviewed p.K15fs 1 - - - - - - - - - HMMPfam_Ribosomal_L22e RNF207 388591 genome.wustl.edu 37 1 6271124 6271124 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_207396.2 +1 validated p.P352L 1.000 50 0% 18 33.3% 1 100% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL NOL9 79707 genome.wustl.edu 37 1 6609749 6609749 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_024654.4 -1 validated p.R209H 0.000 189 0% 260 27.3% 6 16.6% possibly_damaging(0.544) tolerated(0.4) neutral(0.201) NULL C1orf127 148345 genome.wustl.edu 37 1 11017740 11017740 + Missense_Mutation SNP T T C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea ENST00000377008 -1 known p.Y60C 0.005 59 0% 66 30.3% 0 - probably_damaging(0.979) tolerated(0.14) deleterious(0.671) NULL MTOR 2475 genome.wustl.edu 37 1 11188078 11188078 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_004958.3 -1 reviewed p.V2006I 1.000 221 0% 236 28.8% 26 50% benign(0.363) deleterious(0) deleterious(0.560) superfamily_ARM-type_fold HNRNPCL1 343069 genome.wustl.edu 37 1 12907644 12907644 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001013631.1 -1 validated p.R167W 0.895 336 0% 332 24.1% 0 - benign(0.01) deleterious(0.01) neutral(0.406) NULL ZBTB17 7709 genome.wustl.edu 37 1 16269907 16269907 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_003443.2 -1 validated p.R562C 1.000 43 0% 65 36.9% 63 41.2% probably_damaging(0.993) deleterious(0) deleterious(0.895) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ACTL8 81569 genome.wustl.edu 37 1 18152842 18152842 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_030812.2 +1 validated p.R310H 0.986 76 0% 72 26.4% 1 0% probably_damaging(0.989) deleterious(0) deleterious(0.884) HMMPfam_Actin,HMMSmart_ACTIN,superfamily_SSF53067 UBR4 23352 genome.wustl.edu 37 1 19493671 19493673 + In_Frame_Del DEL AAG AAG - novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 AAG AAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_020765.2 -1 validated p.L1319in_frame_del 0.998:1.000:1.000 - - - - - - - - - superfamily_ARM repeat KIAA0090 23065 genome.wustl.edu 37 1 19564624 19564624 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_015047.1 -1 predicted p.A367T 0.000 232 0% 252 30.2% 34 47% benign(0) tolerated(0.78) neutral(0.001) superfamily_Quinoprotein alcohol dehydrogenase-like TMCO4 255104 genome.wustl.edu 37 1 20027315 20027315 + Missense_Mutation SNP T T C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_181719.4 -1 validated p.H443R 1.000 103 0% 111 31.5% 38 50% benign(0.001) tolerated(0.07) neutral(0.319) HMMPfam_DUF726 HSPG2 3339 genome.wustl.edu 37 1 22202361 22202361 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea ENST00000374695 -1 known p.R1060W 0.995 49 0% 38 36.8% 11 0% benign(0.004) tolerated(0.09) neutral(0.296) HMMPfam_Laminin_B,superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00281 HSPG2 3339 genome.wustl.edu 37 1 22222432 22222432 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea ENST00000374695 -1 known p.S76N 0.997 84 0% 97 33% 6 0% possibly_damaging(0.873) deleterious(0) deleterious(0.784) NULL TCEB3 6924 genome.wustl.edu 37 1 24077927 24077929 + In_Frame_Del DEL GAG GAG - novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 GAG GAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_003198.2 +1 reviewed p.E305in_frame_del 1.000:1.000:0.993 - - - - - - - - - NULL C1orf201 90529 genome.wustl.edu 37 1 24727851 24727851 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea ENST00000437986 -1 known p.R10C 0.000 608 0% 764 28.9% 5 40% benign(0.278) deleterious(0.01) neutral(0.435) NULL RPS6KA1 6195 genome.wustl.edu 37 1 26898372 26898372 + Silent SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001006665.1 +1 reviewed p.C604 0.948 76 0% 56 33.9% 70 35.7% - - - HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase AHDC1 27245 genome.wustl.edu 37 1 27874473 27874473 + Missense_Mutation SNP T T C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001029882.2 -1 validated p.H1385R 1.000 20 0% 41 39% 14 50% possibly_damaging(0.727) tolerated(0.08) deleterious(0.565) NULL SFPQ 6421 genome.wustl.edu 37 1 35652681 35652683 + In_Frame_Del DEL CCT CCT - novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 CCT CCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_005066.2 -1 validated p.G639in_frame_del 1.000:1.000:1.000 - - - - - - - - - NULL THRAP3 9967 genome.wustl.edu 37 1 36752570 36752570 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_005119.3 +1 validated p.R247* 1.000 30 0% 50 24% 25 12% - - - NULL THRAP3 9967 genome.wustl.edu 37 1 36769491 36769491 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_005119.3 +1 validated p.R914Q 1.000 167 0% 181 27.1% 31 74.1% probably_damaging(0.994) deleterious(0.01) deleterious(0.858) NULL GJA9 81025 genome.wustl.edu 37 1 39340512 39340512 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_030772.3 -1 provisional p.R420Q 0.001 350 0% 382 31.9% 0 - possibly_damaging(0.802) deleterious(0) deleterious(0.746) NULL TRIT1 54802 genome.wustl.edu 37 1 40313667 40313667 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_017646.4 -1 validated p.S269L 0.024 400 0% 384 26.8% 12 33.3% benign(0.03) tolerated(0.28) neutral(0.033) HMMPfam_IPPT,superfamily_P-loop containing nucleoside triphosphate hydrolases TRIT1 54802 genome.wustl.edu 37 1 40318439 40318439 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_017646.4 -1 validated p.A175V 1.000 430 0% 452 33% 14 21.4% possibly_damaging(0.926) tolerated(0.09) deleterious(0.671) HMMPfam_IPPT,superfamily_P-loop containing nucleoside triphosphate hydrolases ZMPSTE24 10269 genome.wustl.edu 37 1 40747033 40747033 + Missense_Mutation SNP A A G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_005857.3 +1 reviewed p.H263R 1.000 266 0% 306 27.5% 42 38% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Peptidase_M48 SLC2A1 6513 genome.wustl.edu 37 1 43408960 43408960 + Silent SNP T T G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_006516.2 -1 reviewed p.G17 1.000 82 0% 65 27.7% 57 40.3% - - - HMMPfam_Sugar_tr,superfamily_MFS_gen_substrate_transporter ST3GAL3 6487 genome.wustl.edu 37 1 44365285 44365285 + Silent SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_174963.2 +1 reviewed p.P279 0.006 133 0% 109 25.7% 7 14.2% - - - HMMPfam_Glyco_transf_29 KLF17 128209 genome.wustl.edu 37 1 44595828 44595828 + Silent SNP C C A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_173484.3 +1 validated p.T295 1.000 43 0% 72 30.6% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 TESK2 10420 genome.wustl.edu 37 1 45923406 45923406 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_007170.2 -1 reviewed p.R18C 1.000 281 0% 312 34.3% 1 100% benign(0.091) deleterious(0) neutral(0.451) NULL GPBP1L1 60313 genome.wustl.edu 37 1 46093977 46093977 + Missense_Mutation SNP T T C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_021639.4 -1 validated p.D459G 0.998 286 0% 320 33.1% 103 37.8% probably_damaging(0.959) deleterious(0.01) deleterious(0.808) NULL IPP 3652 genome.wustl.edu 37 1 46184896 46184897 + Frame_Shift_Ins INS - - AC novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_005897.2 -1 reviewed p.Y388fs 1.000:1.000 - - - - - - - - - HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain SPATA6 54558 genome.wustl.edu 37 1 48821391 48821391 + Missense_Mutation SNP C C A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_019073.1 -1 provisional p.R382L 1.000 415 0% 371 32.3% 5 80% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL SPATA6 54558 genome.wustl.edu 37 1 48877138 48877138 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_019073.1 -1 provisional p.R135* 0.997 238 0.8% 201 29.4% 4 0% - - - NULL PCSK9 255738 genome.wustl.edu 37 1 55527158 55527158 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_174936.2 +1 reviewed p.A598T 0.966 44 0% 36 33.3% 45 57.7% probably_damaging(1) deleterious(0) deleterious(0.945) NULL LOC100288348 100288348 genome.wustl.edu 37 1 57044746 57044746 + Silent SNP A A G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea XM_002342086.1 +1 model p.P318 0.528 42 0% 40 32.5% 2 0% - - - NULL FGGY 55277 genome.wustl.edu 37 1 59811984 59811984 + Missense_Mutation SNP A A G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001113411.1 +1 validated p.N127D 1.000 279 0.4% 236 32.2% 12 50% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_FGGY_N,superfamily_SSF53067 JAK1 3716 genome.wustl.edu 37 1 65301899 65301899 + Splice_Site SNP C C A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_002227.2 -1 reviewed e22-1 1.000 122 0% 136 31.6% 0 - - - - - WDR78 79819 genome.wustl.edu 37 1 67301445 67301445 + Missense_Mutation SNP A A G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_024763.4 -1 validated p.Y533H 1.000 221 0% 226 28.3% 7 57.1% possibly_damaging(0.625) deleterious(0) deleterious(0.662) HMMSmart_SM00320,superfamily_WD40 repeat-like FUBP1 8880 genome.wustl.edu 37 1 78426085 78426085 + Silent SNP T T C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_003902.3 -1 reviewed p.P480 1.000 108 0% 77 29.9% 107 44.8% - - - NULL SYDE2 84144 genome.wustl.edu 37 1 85655898 85655898 + Missense_Mutation SNP T T C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_032184.1 -1 validated p.H428R 0.166 304 0% 348 28.2% 3 66.6% benign(0) - - NULL COL24A1 255631 genome.wustl.edu 37 1 86590828 86590828 + Silent SNP A A G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_152890.5 -1 validated p.L397 0.090 422 0% 391 32% 1 0% - - - NULL CLCA4 22802 genome.wustl.edu 37 1 87045123 87045123 + Missense_Mutation SNP G G T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_012128.3 +1 reviewed p.G737C 1.000 176 0% 236 32.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL GBP2 2634 genome.wustl.edu 37 1 89579795 89579795 + Silent SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_004120.3 -1 reviewed p.L351 0.995 403 0% 377 30.8% 72 11.1% - - - HMMPfam_GBP_C,superfamily_GBP PRMT6 55170 genome.wustl.edu 37 1 107599955 107599956 + Frame_Shift_Ins INS - - T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_018137.2 +1 validated p.W148fs 0.997:1.000 - - - - - - - - - superfamily_S-adenosyl-L-methionine-dependent methyltransferases CELSR2 1952 genome.wustl.edu 37 1 109805837 109805837 + Silent SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001408.2 +1 reviewed p.D1594 0.008 29 0% 29 37.9% 14 28.5% - - - PatternScan_ASX_HYDROXYL,HMMPfam_EGF,HMMSmart_EGF CD53 963 genome.wustl.edu 37 1 111434036 111434036 + Silent SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_000560.3 +1 reviewed p.G2 1.000 647 0.3% 616 29.2% 37 0% - - - NULL CASQ2 845 genome.wustl.edu 37 1 116243969 116243969 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001232.3 -1 reviewed p.V365M 1.000 372 0.3% 446 31.4% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Calsequestrin,superfamily_Thioredoxin-like,PatternScan_CALSEQUESTRIN_2 CD101 9398 genome.wustl.edu 37 1 117556348 117556348 + Missense_Mutation SNP G G T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_004258.3 +1 validated p.G388C 0.583 87 0% 82 36.6% 0 - probably_damaging(0.987) deleterious(0.01) deleterious(0.842) HMMSmart_IG,superfamily_SSF48726 HAO2 51179 genome.wustl.edu 37 1 119923800 119923800 + Missense_Mutation SNP A A G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001005783.1 +1 reviewed p.D31G 0.996 438 0% 475 32% 0 - benign(0.001) deleterious(0.04) neutral(0.349) HMMPfam_FMN_dh,superfamily_FMN-linked oxidoreductases PHGDH 26227 genome.wustl.edu 37 1 120269703 120269703 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_006623.3 +1 reviewed p.R163Q 1.000 142 0.7% 139 33.8% 37 40.5% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_2-Hacid_dh,HMMPfam_2-Hacid_dh_C,PatternScan_D_2_HYDROXYACID_DH_1,superfamily_NAD(P)-binding Rossmann-fold domains BCL9 607 genome.wustl.edu 37 1 147092536 147092536 + Missense_Mutation SNP G G T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_004326.2 +1 reviewed p.G859C 0.991 85 0% 62 27.4% 21 47.6% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL ADAMTSL4 54507 genome.wustl.edu 37 1 150530610 150530610 + Silent SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_019032.4 +1 reviewed p.G789 0.150 26 0% 24 50% 5 0% - - - HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat SEMA6C 10500 genome.wustl.edu 37 1 151108983 151108983 + Silent SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_030913.4 -1 reviewed p.E349 1.000 118 0% 125 10.4% 9 22.2% - - - HMMPfam_Sema,HMMSmart_SM00630,superfamily_Sema domain ZNF687 57592 genome.wustl.edu 37 1 151260130 151260130 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_020832.1 +1 provisional p.R455W 0.956 63 0% 64 37.5% 7 57.1% probably_damaging(1) tolerated(0.08) deleterious(0.800) NULL CGN 57530 genome.wustl.edu 37 1 151502568 151502568 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_020770.2 +1 validated p.R764W 1.000 127 0% 114 29.8% 21 57.1% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CELF3 11189 genome.wustl.edu 37 1 151680079 151680079 + Missense_Mutation SNP G G T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_007185.4 -1 reviewed p.L226I 1.000 22 0% 22 36.4% 0 - benign(0.004) tolerated(0.45) neutral(0.012) NULL RPTN 126638 genome.wustl.edu 37 1 152128316 152128316 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001122965.1 -1 validated p.R420Q 0.000 1221 0.1% 1357 32.1% 0 - probably_damaging(0.999) tolerated(0.12) deleterious(0.751) NULL ZBTB7B 51043 genome.wustl.edu 37 1 154988224 154988224 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_015872.2 +1 validated p.R363H 1.000 25 0% 20 20% 75 54.6% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ASH1L 55870 genome.wustl.edu 37 1 155490894 155490894 + Silent SNP T T C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_018489.2 -1 reviewed p.K139 0.999 260 0.4% 287 33.4% 2 0% - - - NULL LMNA 4000 genome.wustl.edu 37 1 156084974 156084974 + Missense_Mutation SNP C C A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_170707.2 +1 reviewed p.R89S 1.000 19 0% 26 23.1% 170 32.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Filament KIRREL 55243 genome.wustl.edu 37 1 158063475 158063475 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_018240.5 +1 validated p.L548F 1.000 64 0% 86 38.4% 5 40% possibly_damaging(0.61) tolerated(0.15) neutral(0.453) NULL SPTA1 6708 genome.wustl.edu 37 1 158592822 158592822 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_003126.2 -1 reviewed p.S2024L 0.991 314 0.3% 268 34.3% 0 - possibly_damaging(0.858) tolerated(0.08) deleterious(0.631) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat ADAMTS4 9507 genome.wustl.edu 37 1 161165353 161165353 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_005099.4 -1 reviewed p.R388H 1.000 153 0% 175 29.1% 6 0% benign(0.37) tolerated(0.57) neutral(0.123) "HMMPfam_Reprolysin,superfamily_Metalloproteases (""zincins"") catalytic domain" ATF6 22926 genome.wustl.edu 37 1 161928251 161928251 + Missense_Mutation SNP G G T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_007348.2 +1 validated p.G607V 1.000 193 0% 223 33.2% 65 40% possibly_damaging(0.915) tolerated(0.08) deleterious(0.666) NULL SEC16B 89866 genome.wustl.edu 37 1 177916986 177916986 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_033127.2 -1 validated p.A546V 0.145 93 0% 99 32.3% 1 0% benign(0.015) tolerated(0.09) neutral(0.297) NULL SEC16B 89866 genome.wustl.edu 37 1 177930020 177930020 + Missense_Mutation SNP G G T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_033127.2 -1 validated p.P281H 1.000 122 0% 105 26.7% 4 25% probably_damaging(0.974) tolerated(0.54) neutral(0.423) NULL STX6 10228 genome.wustl.edu 37 1 180959176 180959176 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_005819.4 -1 validated p.R145* 0.843 87 0% 84 33.3% 17 29.4% - - - NULL RGS1 5996 genome.wustl.edu 37 1 192548289 192548289 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_002922.3 +1 reviewed p.R156Q 1.000 271 0% 269 30.5% 32 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RGS,HMMSmart_SM00315,superfamily_Regulator of G-protein signaling RGS TROVE2 6738 genome.wustl.edu 37 1 193038302 193038302 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_004600.5 +1 validated p.G40S 1.000 224 0.4% 221 32.1% 3 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TROVE CFHR3 10878 genome.wustl.edu 37 1 196749088 196749088 + Missense_Mutation SNP A A G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_021023.5 +1 reviewed p.R139G 0.019 227 0.4% 175 30.3% 0 - probably_damaging(0.989) deleterious(0.04) deleterious(0.788) HMMPfam_Sushi,HMMSmart_CCP,superfamily_Complement_control_module ASPM 259266 genome.wustl.edu 37 1 197072813 197072813 + Silent SNP T T C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_018136.4 -1 reviewed p.R1856 0.332 289 0% 264 28.4% 4 75% - - - HMMSmart_SM00015,superfamily_P-loop containing nucleoside triphosphate hydrolases NEK7 140609 genome.wustl.edu 37 1 198248101 198248101 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_133494.2 +1 validated p.V167M 1.000 363 0% 338 26.3% 7 28.5% benign(0.192) deleterious(0.01) neutral(0.424) HMMSmart_S_TKc,PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,HMMPfam_Pkinase TMEM9 252839 genome.wustl.edu 37 1 201104900 201104900 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_016456.3 -1 validated p.P148L 0.851 45 0% 32 43.8% 348 40.2% benign(0.001) tolerated(0.32) neutral(0.024) HMMPfam_Tmemb_9 IPO9 55705 genome.wustl.edu 37 1 201840306 201840306 + Silent SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_018085.4 +1 validated p.F809 0.863 324 0% 383 32.1% 46 56.5% - - - superfamily_ARM repeat KDM5B 10765 genome.wustl.edu 37 1 202702931 202702931 + Silent SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_006618.3 -1 validated p.S1169 0.006 114 0.9% 101 34.7% 35 45.7% - - - superfamily_FYVE/PHD zinc finger PPFIA4 8497 genome.wustl.edu 37 1 203024599 203024599 + Silent SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_015053.1 +1 validated p.A117 0.000 123 0% 133 36.1% 2 0% - - - NULL CNTN2 6900 genome.wustl.edu 37 1 205041160 205041160 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_005076.2 +1 reviewed p.G877D 1.000 72 0% 78 44.9% 0 - benign(0.199) deleterious(0.04) neutral(0.368) HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like NUAK2 81788 genome.wustl.edu 37 1 205273356 205273356 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_030952.1 -1 provisional p.R370H 1.000 110 0% 107 38.3% 17 35.2% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CDK18 5129 genome.wustl.edu 37 1 205494313 205494313 + Missense_Mutation SNP A A G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_212503.2 +1 validated p.K179R 1.000 430 0.2% 490 30% 16 25% possibly_damaging(0.847) deleterious(0.02) deleterious(0.708) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase FCAMR 83953 genome.wustl.edu 37 1 207140428 207140428 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001122979.2 -1 validated p.M46I 0.029 185 0% 171 24% 0 - benign(0.01) tolerated(0.38) neutral(0.018) NULL CR1 1378 genome.wustl.edu 37 1 207760763 207760763 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_000651.4 +1 reviewed p.A1855T 0.861 600 0% 534 28.5% 0 - probably_damaging(0.994) deleterious(0.01) deleterious(0.858) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain LAMB3 3914 genome.wustl.edu 37 1 209799108 209799108 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_000228.2 -1 reviewed p.A621T 0.921 58 0% 41 24.4% 60 41.6% benign(0) tolerated(0.2) neutral(0.049) NULL USH2A 7399 genome.wustl.edu 37 1 216369979 216369979 + Silent SNP A A G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_206933.2 -1 reviewed p.V1389 0.000 598 0% 553 31.6% 0 - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,superfamily_Concanavalin A-like lectins/glucanases TLR5 7100 genome.wustl.edu 37 1 223285392 223285392 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_003268.5 -1 reviewed p.A328T 0.023 126 0% 138 31.9% 1 100% benign(0.018) tolerated(0.51) neutral(0.009) HMMPfam_LRR_1,superfamily_SSF52058 NVL 4931 genome.wustl.edu 37 1 224437993 224437993 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_002533.2 -1 validated p.P737L 1.000 148 0% 120 35.8% 9 44.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00382,HMMPfam_AAA,superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH14 127602 genome.wustl.edu 37 1 225306929 225306929 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001373.1 +1 validated p.R1367C 0.994 112 0% 117 23.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DHC_N2 SNAP47 116841 genome.wustl.edu 37 1 227935738 227935738 + Silent SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea ENST00000426344 +1 known p.A137V 1.000 42 0% 43 34.9% 21 28.5% - - - NULL OBSCN 84033 genome.wustl.edu 37 1 228527686 228527686 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001098623.1 +1 reviewed p.V5767M 1.000 118 0% 125 28.8% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) ACTA1 58 genome.wustl.edu 37 1 229568069 229568069 + Silent SNP G G T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001100.3 -1 reviewed p.T188 0.159 46 2.2% 28 32.1% 0 - - - - HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain GNPAT 8443 genome.wustl.edu 37 1 231411230 231411230 + Silent SNP G G T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_014236.3 +1 reviewed p.V641 0.017 273 0% 327 30% 97 44.3% - - - NULL KIAA1804 84451 genome.wustl.edu 37 1 233482193 233482193 + Missense_Mutation SNP C C A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_032435.2 +1 validated p.L271I 0.996 199 0% 198 30.3% 1 0% benign(0.135) tolerated(1) neutral(0.011) HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase NLRP3 114548 genome.wustl.edu 37 1 247587513 247587513 + Silent SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001079821.2 +1 reviewed p.L256 0.167 77 0% 77 31.2% 0 - - - - HMMPfam_NACHT OR14K1 343170 genome.wustl.edu 37 1 247901977 247901977 + Missense_Mutation SNP C C A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea ENST00000283225 +1 known p.L21I 0.005 186 0% 162 27.8% 0 - possibly_damaging(0.929) deleterious(0.05) deleterious(0.722) superfamily_SSF81321 MYT1L 23040 genome.wustl.edu 37 2 1926389 1926389 + Silent SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_015025.2 -1 validated p.R384 1.000 60 0% 84 34.5% 0 - - - - NULL COLEC11 78989 genome.wustl.edu 37 2 3691462 3691462 + Silent SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_024027.3 +1 validated p.A190 0.400 34 0% 22 36.4% 7 14.2% - - - HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like RDH14 57665 genome.wustl.edu 37 2 18737042 18737042 + Silent SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_020905.3 -1 validated p.N142 0.294 112 0% 127 33.1% 19 47.3% - - - HMMPfam_adh_short,superfamily_NAD(P)-binding Rossmann-fold domains WDR35 57539 genome.wustl.edu 37 2 20131131 20131131 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001006657.1 -1 reviewed p.R966C 1.000 719 0% 699 31.2% 5 60% possibly_damaging(0.574) tolerated(0.09) deleterious(0.493) NULL APOB 338 genome.wustl.edu 37 2 21238249 21238249 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_000384.2 -1 reviewed p.W1167* 0.973 247 0% 264 26.5% 0 - - - - NULL APOB 338 genome.wustl.edu 37 2 21256187 21256187 + Silent SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_000384.2 -1 reviewed p.L370 1.000 246 0% 264 31.4% 0 - - - - HMMPfam_Vitellogenin_N,HMMSmart_SM00638,superfamily_Lipovitellin-phosvitin complex superhelical domain KLHL29 114818 genome.wustl.edu 37 2 23785144 23785144 + Silent SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea ENST00000486442 +1 known p.T26 0.913 11 0% 13 30.8% 0 - - - - NULL LOC100289053 100289053 genome.wustl.edu 37 2 25610244 25610244 + Splice_Site SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea XM_002342219.1 +1 model e1+1 0.999 107 0% 108 25.9% 86 47.6% benign(0.057) deleterious(0.02) neutral(0.387) - ASXL2 55252 genome.wustl.edu 37 2 25965347 25965347 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_018263.4 -1 validated p.E1287K 1.000 146 0% 142 27.5% 0 - probably_damaging(0.999) tolerated(0.07) deleterious(0.809) NULL OTOF 9381 genome.wustl.edu 37 2 26683822 26683822 + Silent SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_194248.2 -1 reviewed p.T1870 0.104 52 0% 33 36.4% 0 - - - - NULL KCNK3 3777 genome.wustl.edu 37 2 26951104 26951104 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_002246.2 +1 reviewed p.A285T 0.997 11 0% 10 50% 0 - benign(0) tolerated(0.57) neutral(0.006) NULL CAD 790 genome.wustl.edu 37 2 27464928 27464928 + Silent SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea ENST00000428460 +1 known p.C47Y 1.000 12 0% 24 37.5% 30 56.6% - - - superfamily_Aspartate/ornithine carbamoyltransferase,HMMPfam_OTCace_N PPM1G 5496 genome.wustl.edu 37 2 27606867 27606867 + Missense_Mutation SNP T T A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_177983.1 -1 reviewed p.E306D 0.993 560 1.1% 635 32.6% 215 40.4% possibly_damaging(0.806) tolerated(0.49) neutral(0.314) HMMSmart_SM00332,superfamily_Protein serine/threonine phosphatase 2C catalytic domain,HMMPfam_PP2C PLB1 151056 genome.wustl.edu 37 2 28855831 28855833 + In_Frame_Del DEL CTT CTT - novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_153021.4 +1 validated p.F1343in_frame_del 1.000:1.000:1.000 - - - - - - - - - HMMPfam_Lipase_GDSL,superfamily_SGNH hydrolase ALK 238 genome.wustl.edu 37 2 29416647 29416647 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_004304.3 -1 reviewed p.R1436C 0.009 79 0% 61 27.9% 0 - benign(0.001) deleterious(0.04) neutral(0.349) NULL XDH 7498 genome.wustl.edu 37 2 31589807 31589807 + Missense_Mutation SNP T T C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_000379.3 -1 reviewed p.I751V 1.000 202 0% 202 23.3% 4 50% benign(0) tolerated(0.26) neutral(0.034) HMMPfam_Ald_Xan_dh_C2,superfamily_Ald_xan_DH_mo_bd RASGRP3 25780 genome.wustl.edu 37 2 33784046 33784046 + Silent SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001139488.1 +1 validated p.T671 0.000 59 0% 79 27.8% 3 0% - - - NULL FSHR 2492 genome.wustl.edu 37 2 49190481 49190481 + Silent SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_000145.3 -1 reviewed p.G493 0.999 91 0% 124 12.9% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like FAM161A 84140 genome.wustl.edu 37 2 62067622 62067622 + Missense_Mutation SNP A A G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_032180.2 -1 validated p.S173P 0.810 380 0.3% 377 31.8% 2 50% possibly_damaging(0.925) tolerated(0.2) neutral(0.422) NULL OTX1 5013 genome.wustl.edu 37 2 63283100 63283100 + Silent SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_014562.2 +1 reviewed p.P238 0.990 49 0% 49 30.6% 5 80% - - - HMMPfam_TF_Otx ENSG00000199460 0 genome.wustl.edu 37 2 69410113 69410115 + RNA DEL AAA AAA - rs71864303 TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 AAA AAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea ENST00000362590 +1 novel NULL 0.023:0.018:0.019 - - - - - - - - - - GFPT1 2673 genome.wustl.edu 37 2 69569382 69569382 + Splice_Site SNP C C G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_002056.2 -1 reviewed e12-1 1.000 216 0% 207 32.4% 1 100% - - - - ANKRD53 79998 genome.wustl.edu 37 2 71206359 71206359 + Silent SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001115116.1 +1 validated p.I101 0.001 30 0% 15 33.3% 1 0% - - - NULL DYSF 8291 genome.wustl.edu 37 2 71742825 71742825 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001130987.1 +1 reviewed p.A278T 0.937 112 0% 116 35.3% 2 0% possibly_damaging(0.813) tolerated(0.08) deleterious(0.607) HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB CYP26B1 56603 genome.wustl.edu 37 2 72362404 72362404 + Missense_Mutation SNP T T C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_019885.2 -1 reviewed p.M192V 1.000 50 0% 52 13.5% 1 0% benign(0.002) tolerated(0.41) neutral(0.015) HMMPfam_p450,superfamily_Cytochrome_P450 ALMS1 7840 genome.wustl.edu 37 2 73675354 73675354 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_015120.4 +1 reviewed p.T566I 0.002 143 0.7% 141 31.2% 3 0% benign(0.006) tolerated(0.64) neutral(0.003) NULL ALMS1 7840 genome.wustl.edu 37 2 73678634 73678634 + Silent SNP A A G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_015120.4 +1 reviewed p.V1659 0.000 94 0% 67 16.4% 0 - - - - NULL SLC4A5 57835 genome.wustl.edu 37 2 74483009 74483009 + Silent SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_021196.3 -1 reviewed p.N306 0.935 113 0% 133 30.8% 0 - - - - HMMPfam_Band_3_cyto,superfamily_Phoshotransferase/anion transport protein DNAH6 1768 genome.wustl.edu 37 2 84777063 84777063 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001370.1 +1 validated p.T456M 0.902 312 0.6% 250 29.6% 0 - possibly_damaging(0.937) tolerated(0.09) deleterious(0.679) NULL RETSAT 54884 genome.wustl.edu 37 2 85570844 85570844 + Missense_Mutation SNP A A T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea ENST00000449375 -1 known p.L326Q 0.994 130 0% 136 14% 49 61.2% - - - superfamily_FAD/NAD(P)-binding domain FAHD2A 51011 genome.wustl.edu 37 2 96078441 96078441 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_016044.2 +1 validated p.P271S 1.000 271 0% 269 26.8% 43 34.8% probably_damaging(0.994) deleterious(0.01) deleterious(0.858) HMMPfam_FAA_hydrolase,superfamily_Fumarylacetoacetase_C-rel SNRNP200 23020 genome.wustl.edu 37 2 96949563 96949563 + Silent SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_014014.3 -1 reviewed p.E1524 1.000 145 0% 168 38.1% 143 40.5% - - - HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases ARID5A 10865 genome.wustl.edu 37 2 97217956 97217956 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_212481.1 +1 validated p.R564H 1.000 42 0% 31 35.5% 59 13.5% probably_damaging(0.993) tolerated(0.1) deleterious(0.736) NULL FER1L5 90342 genome.wustl.edu 37 2 97364482 97364483 + Frame_Shift_Del DEL AG AG - novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001113382.1 +1 provisional p.E1507fs 0.005:0.006 - - - - - - - - - superfamily_C2 domain (Calcium/lipid-binding domain CaLB) ACTR1B 10120 genome.wustl.edu 37 2 98275067 98275067 + Silent SNP T T C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_005735.3 -1 reviewed p.S160 0.071 226 0% 183 33.3% 58 51.7% - - - HMMPfam_Actin,HMMSmart_ACTIN,superfamily_SSF53067 TMEM131 23505 genome.wustl.edu 37 2 98504570 98504570 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_015348.1 -1 validated p.R102W 1.000 316 0% 347 29.7% 6 66.6% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL REV1 51455 genome.wustl.edu 37 2 100019264 100019264 + Splice_Site SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_016316.2 -1 reviewed e20-1 0.970 293 0% 304 28.9% 0 - - - - - C2orf40 84417 genome.wustl.edu 37 2 106690408 106690408 + Missense_Mutation SNP T T C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_032411.2 +1 validated p.L65P 0.998 138 0% 148 16.9% 1 100% benign(0) tolerated(0.06) neutral(0.323) NULL ST6GAL2 84620 genome.wustl.edu 37 2 107449046 107449046 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001142351.1 -1 validated p.A373V 1.000 213 0% 197 28.4% 1 0% possibly_damaging(0.95) deleterious(0) deleterious(0.838) HMMPfam_Glyco_transf_29,superfamily_Glycoside hydrolase/deacetylase GCC2 9648 genome.wustl.edu 37 2 109104200 109104200 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_181453.3 +1 reviewed p.R1326* 1.000 233 0.4% 251 36.7% 8 37.5% - - - NULL NPHP1 4867 genome.wustl.edu 37 2 110907760 110907760 + Missense_Mutation SNP T T C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_000272.3 -1 reviewed p.Q442R 1.000 730 0% 619 31% 2 50% benign(0) tolerated(0.89) - NULL SLC20A1 6574 genome.wustl.edu 37 2 113404706 113404706 + Missense_Mutation SNP C C A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_005415.3 +1 provisional p.L101M 0.017 456 0% 534 31.1% 23 39.1% benign(0.204) tolerated(0.24) neutral(0.057) HMMPfam_PHO4 C1QL2 165257 genome.wustl.edu 37 2 119914554 119914554 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_182528.3 -1 validated p.R230W 1.000 96 0% 91 25.3% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_C1q,HMMSmart_SM00110,superfamily_TNF-like RAB3GAP1 22930 genome.wustl.edu 37 2 135883770 135883770 + Missense_Mutation SNP A A G rs148190655 by1000genomes TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_012233.2 +1 reviewed p.T284A 1.000 722 0% 628 29.6% 12 33.3% probably_damaging(0.998) deleterious(0.02) deleterious(0.857) NULL TNFAIP6 7130 genome.wustl.edu 37 2 152236046 152236048 + In_Frame_Del DEL AAA AAA - rs71403164 byCluster TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 AAA AAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_007115.2 +1 reviewed p.*278in_frame_del 0.961:0.953 - - - - - - - - - NULL RIF1 55183 genome.wustl.edu 37 2 152293487 152293487 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_018151.4 +1 reviewed p.A448T 1.000 117 0% 124 30.6% 8 37.5% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ARM repeat TANC1 85461 genome.wustl.edu 37 2 160035451 160035451 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_033394.2 +1 validated p.A763T 1.000 70 0% 90 32.2% 8 50% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SCN2A 6326 genome.wustl.edu 37 2 166245396 166245396 + Missense_Mutation SNP A A G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001040142.1 +1 reviewed p.M1694V 1.000 649 0% 721 33.6% 1 100% benign(0.046) tolerated(0.53) neutral(0.010) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels SCN1A 6323 genome.wustl.edu 37 2 166900295 166900295 + Missense_Mutation SNP T T C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_006920.4 -1 reviewed p.S643G 1.000 264 0% 265 29.4% 0 - probably_damaging(0.993) tolerated(0.1) deleterious(0.736) NULL SCN7A 6332 genome.wustl.edu 37 2 167263138 167263138 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_002976.2 -1 validated p.T1334I 0.004 25 0% 41 31.7% 0 - benign(0.001) tolerated(1) - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels LRP2 4036 genome.wustl.edu 37 2 170099516 170099516 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_004525.2 -1 reviewed p.R1206H 0.021 315 0% 361 34.1% 0 - benign(0.004) tolerated(0.31) neutral(0.027) HMMPfam_Ldl_recept_a,HMMSmart_LDLa,PatternScan_LDLRA_1,superfamily_LDL_rcpt_classA_cys-rich GORASP2 26003 genome.wustl.edu 37 2 171822351 171822351 + Missense_Mutation SNP C C A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_015530.3 +1 reviewed p.P357H 1.000 392 0% 418 29.4% 267 43% probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMPfam_GRASP55_65 HOXD3 3232 genome.wustl.edu 37 2 177036967 177036967 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_006898.4 +1 reviewed p.R422* 1.000 34 0% 34 29.4% 1 0% - - - NULL TTN 7273 genome.wustl.edu 37 2 179398630 179398630 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea ENST00000356127 -1 known p.R31668C 0.916 303 0.3% 281 27.4% 0 - probably_damaging(0.998) - - NULL TTN 7273 genome.wustl.edu 37 2 179413566 179413566 + Silent SNP T T C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_133378.4 -1 reviewed p.Q28361R 0.970 336 0% 364 30.8% 2 100% - - - NULL TTN 7273 genome.wustl.edu 37 2 179427977 179427977 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea ENST00000356127 -1 known p.G25058* 1.000 159 0.6% 167 34.1% 0 - - - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179441848 179441848 + Missense_Mutation SNP T T A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea ENST00000356127 -1 known p.I20502F 0.995 215 0% 199 25.1% 3 100% probably_damaging(0.991) - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179598099 179598099 + Silent SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea ENST00000356127 -1 known p.Y4063 1.000 277 0.4% 208 31.7% 0 - - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179606092 179606092 + Frame_Shift_Del DEL G G - novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea ENST00000342175 -1 known p.F3786fs 0.959 - - - - - - - - - HMMSmart_SM00408,HMMSmart_SM00409 TTN 7273 genome.wustl.edu 37 2 179634486 179634488 + In_Frame_Del DEL ATG ATG - novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 ATG ATG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_133379.3 -1 reviewed p.I2940in_frame_del 1.000:1.000:1.000 - - - - - - - - - HMMSmart_IG,HMMPfam_I-set,superfamily_SSF48726 TTN 7273 genome.wustl.edu 37 2 179659829 179659829 + Silent SNP A A G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_133379.3 -1 reviewed p.S355 0.014 207 0% 197 29.4% 0 - - - - NULL WDR75 84128 genome.wustl.edu 37 2 190334122 190334122 + Silent SNP A A G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_032168.1 +1 provisional p.S592 0.970 515 0% 510 23.5% 53 52.8% - - - superfamily_WD40_like STAT1 6772 genome.wustl.edu 37 2 191849107 191849107 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_007315.3 -1 reviewed p.V426I 1.000 218 0% 257 33.5% 149 7.3% benign(0.012) deleterious(0.02) neutral(0.384) superfamily_p53-like transcription factors,HMMPfam_STAT_bind STAT1 6772 genome.wustl.edu 37 2 191851587 191851587 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_007315.3 -1 reviewed p.R405Q 1.000 410 0% 285 29.5% 123 5.6% probably_damaging(1) deleterious(0.04) deleterious(0.849) superfamily_p53-like transcription factors,HMMPfam_STAT_bind DNAH7 56171 genome.wustl.edu 37 2 196729201 196729201 + Missense_Mutation SNP T T C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_018897.2 -1 validated p.Q2393R 1.000 315 0% 261 27.2% 0 - possibly_damaging(0.447) tolerated(0.78) neutral(0.147) superfamily_P-loop containing nucleoside triphosphate hydrolases CCDC150 284992 genome.wustl.edu 37 2 197537074 197537074 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea ENST00000431807 +1 known p.C129Y 0.027 266 0% 257 28% 1 0% - - - NULL SGOL2 151246 genome.wustl.edu 37 2 201436414 201436414 + Missense_Mutation SNP G G T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_152524.5 +1 validated p.G449C 0.000 125 0% 157 26.8% 7 71.4% probably_damaging(0.986) deleterious(0.02) deleterious(0.818) NULL ALS2CR12 130540 genome.wustl.edu 37 2 202211323 202211323 + Missense_Mutation SNP T T C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_139163.2 -1 validated p.M104V 1.000 243 0% 224 23.7% 0 - benign(0.125) tolerated(0.08) neutral(0.310) NULL ALS2CR11 151254 genome.wustl.edu 37 2 202357911 202357911 + Missense_Mutation SNP A A T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea ENST00000439140 -1 known p.S1051R 0.000 152 0% 103 24.3% 0 - possibly_damaging(0.55) - - NULL NBEAL1 65065 genome.wustl.edu 37 2 203990780 203990780 + Silent SNP C C A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001114132.1 +1 validated p.S954 0.998 339 0% 394 35% 1 100% - - - NULL DYTN 391475 genome.wustl.edu 37 2 207528048 207528048 + Silent SNP T T C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001093730.1 -1 provisional p.S404 0.000 257 0.4% 266 30.5% 0 - - - - NULL ABCA12 26154 genome.wustl.edu 37 2 215798868 215798868 + Silent SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_173076.2 -1 reviewed p.L2538 1.000 414 0% 392 34.2% 2 50% - - - NULL ZNF142 7701 genome.wustl.edu 37 2 219521152 219521152 + Missense_Mutation SNP T T C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001105537.1 -1 validated p.M1V 0.853 116 0% 135 25.2% 4 50% benign(0.258) deleterious(0) deleterious(0.472) NULL SLC16A14 151473 genome.wustl.edu 37 2 230902145 230902145 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_152527.4 -1 validated p.R495Q 0.251 341 0% 387 27.6% 2 0% benign(0) tolerated(0.55) neutral(0.007) NULL B3GNT7 93010 genome.wustl.edu 37 2 232262880 232262880 + Silent SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_145236.2 +1 validated p.R150 0.126 15 0% 18 33.3% 7 42.8% - - - HMMPfam_Galactosyl_T NGEF 25791 genome.wustl.edu 37 2 233759599 233759599 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_019850.2 -1 validated p.A286T 1.000 58 1.7% 35 25.7% 1 0% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) UGT1A7 54577 genome.wustl.edu 37 2 234590845 234590845 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_019077.2 +1 reviewed p.R88W 0.000 254 0.4% 317 30.6% 0 - possibly_damaging(0.905) deleterious(0.02) deleterious(0.742) HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase RAB17 64284 genome.wustl.edu 37 2 238486722 238486724 + In_Frame_Del DEL CTC CTC - novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_022449.3 -1 validated p.E78in_frame_del 1.000:1.000:1.000 - - - - - - - - - HMMSmart_RAB,HMMPfam_Ras,superfamily_SSF52540 ESPNL 339768 genome.wustl.edu 37 2 239037366 239037366 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_194312.2 +1 validated p.A412T 0.000 23 0% 14 35.7% 0 - benign(0.06) tolerated(0.08) neutral(0.304) NULL KLHL30 377007 genome.wustl.edu 37 2 239054442 239054442 + Silent SNP G G T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_198582.3 +1 validated p.A355 0.005 31 0% 31 25.8% 0 - - - - HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain AQP12A 375318 genome.wustl.edu 37 2 241631498 241631498 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_198998.1 +1 provisional p.T44M 0.247 94 0% 57 26.3% 0 - benign(0.002) tolerated(0.39) neutral(0.016) superfamily_MIP SEPT2 4735 genome.wustl.edu 37 2 242289575 242289575 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001008491.1 +1 validated p.G358R 1.000 97 0% 125 28.8% 131 37.4% unknown(0) deleterious(0) - NULL CXXC11 285093 genome.wustl.edu 37 2 242815252 242815253 + Frame_Shift_Ins INS - - A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_173821.2 +1 validated p.A516fs 0.003:0.002 - - - - - - - - - NULL C3orf32 51066 genome.wustl.edu 37 3 8661620 8661620 + Silent SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_015931.1 -1 predicted p.G332 0.989 187 0% 178 29.2% 2 0% - - - NULL LOC100289441 100289441 genome.wustl.edu 37 3 9986095 9986095 + Missense_Mutation SNP G G T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea XM_002342359.1 -1 model p.S35R 0.966 210 0.5% 187 27.3% 59 45.7% - - - NULL GHRLOS2 84657 genome.wustl.edu 37 3 10326600 10326600 + RNA SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NR_026829.1 +1 validated NULL 0.000 98 0% 132 37.1% 1 0% - - - - SLC6A11 6538 genome.wustl.edu 37 3 10979977 10979977 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_014229.1 +1 provisional p.M596I 1.000 219 0% 177 38.4% 0 - benign(0.001) tolerated(0.27) neutral(0.034) NULL IQSEC1 9922 genome.wustl.edu 37 3 12963667 12963667 + Silent SNP A A G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea ENST00000450726 -1 known p.C617R 0.311 161 0% 121 17.4% 6 0% - - - HMMPfam_Sec7,HMMSmart_SM00222,superfamily_Sec7 domain OXNAD1 92106 genome.wustl.edu 37 3 16343266 16343266 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_138381.2 +1 validated p.R189Q 1.000 300 0% 354 31.6% 9 11.1% benign(0.312) tolerated(0.41) neutral(0.113) HMMPfam_NAD_binding_1,superfamily_SSF52343 TGFBR2 7048 genome.wustl.edu 37 3 30686373 30686373 + Missense_Mutation SNP T T C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001024847.2 +1 reviewed p.C102R 1.000 153 0% 95 22.1% 6 16.6% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_ecTbetaR2,superfamily_Snake toxin-like MLH1 4292 genome.wustl.edu 37 3 37038192 37038192 + Missense_Mutation SNP G G T rs121912959 TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_000249.3 +1 reviewed p.G67W 1.000 348 0% 367 30% 10 60% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HATPase_c,HMMSmart_HATPase_c,superfamily_ATP_bd_ATPase MLH1 4292 genome.wustl.edu 37 3 37090434 37090438 + Frame_Shift_Del DEL AGTAA AGTAA - novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 AGTAA AGTAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_000249.3 +1 reviewed p.S677fs 1.000:1.000:1.000:1.000:1.000 - - - - - - - - - NULL GOLGA4 2803 genome.wustl.edu 37 3 37357087 37357087 + Nonsense_Mutation SNP A A T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_002078.4 +1 reviewed p.K471* 1.000 310 0% 369 33.1% 3 0% - - - NULL XIRP1 165904 genome.wustl.edu 37 3 39229323 39229323 + Silent SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_194293.2 -1 provisional p.T538 0.959 49 0% 58 24.1% 0 - - - - NULL LOC729454 729454 genome.wustl.edu 37 3 39255671 39255671 + Silent SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea XM_001130287.2 +1 model p.T89 0.016 17 0% 30 30% 0 - - - - superfamily_Actin depolymerizing proteins CX3CR1 1524 genome.wustl.edu 37 3 39307864 39307864 + Missense_Mutation SNP A A G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001337.3 -1 reviewed p.L46P 1.000 243 0% 237 33.8% 4 50% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Family A G protein-coupled receptor-like MYRIP 25924 genome.wustl.edu 37 3 40231667 40231667 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_015460.2 +1 validated p.A460T 0.019 102 2% 83 28.9% 2 50% benign(0) tolerated(0.94) - NULL SEC22C 9117 genome.wustl.edu 37 3 42594854 42594854 + Silent SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea ENST00000451653 -1 known p.A188T 1.000 231 0.9% 294 35.7% 10 20% - - - NULL C3orf23 285343 genome.wustl.edu 37 3 44441965 44441965 + Missense_Mutation SNP T T C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_173826.3 +1 validated p.V335A 0.000 407 0% 385 29.1% 9 44.4% benign(0) tolerated(0.79) neutral(0.001) NULL LTF 4057 genome.wustl.edu 37 3 46501164 46501164 + Silent SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_002343.2 -1 reviewed p.Q63 0.000 246 0% 287 27.5% 8 75% - - - HMMPfam_Transferrin,HMMSmart_TR_FER,superfamily_SSF53850 SCAP 22937 genome.wustl.edu 37 3 47462161 47462161 + Silent SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_012235.2 -1 reviewed p.P482 0.001 37 0% 33 45.5% 40 35% - - - NULL CDC25A 993 genome.wustl.edu 37 3 48200932 48200932 + Nonsense_Mutation SNP T T A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001789.2 -1 reviewed p.R446* 0.912 193 0% 254 29.1% 6 16.6% - - - HMMPfam_Rhodanese,HMMSmart_SM00450,superfamily_Rhodanese/Cell cycle control phosphatase WDR6 11180 genome.wustl.edu 37 3 49050495 49050495 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_018031.3 +1 reviewed p.D540N 1.000 55 0% 66 37.9% 37 45.9% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00320,superfamily_WD40 repeat-like LOC646498 646498 genome.wustl.edu 37 3 49215143 49215143 + Silent SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001080528.2 -1 validated p.L181 0.582 93 0% 98 35.7% 0 - - - - NULL DNAH1 25981 genome.wustl.edu 37 3 52398997 52398997 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_015512.4 +1 validated p.R1827H 0.871 61 1.6% 47 31.9% 0 - benign(0.03) tolerated(0.1) neutral(0.288) superfamily_P-loop containing nucleoside triphosphate hydrolases BAP1 8314 genome.wustl.edu 37 3 52440873 52440873 + Missense_Mutation SNP T T C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_004656.2 -1 reviewed p.M211V 1.000 93 0% 45 31.1% 29 48.2% benign(0.167) tolerated(0.11) neutral(0.287) HMMPfam_Peptidase_C12,superfamily_Cysteine proteinases STAB1 23166 genome.wustl.edu 37 3 52554678 52554678 + Silent SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_015136.2 +1 reviewed p.G1890 0.997 58 0% 56 35.7% 10 10% - - - NULL PBRM1 55193 genome.wustl.edu 37 3 52621392 52621392 + Nonsense_Mutation SNP T T A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_018165.4 -1 validated p.K1002* 1.000 499 0.2% 483 34% 3 0% - - - HMMPfam_BAH,HMMSmart_BAH ADAMTS9 56999 genome.wustl.edu 37 3 64554056 64554056 + Silent SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea ENST00000481060 -1 known p.A560V 1.000 243 0.4% 244 32.8% 57 31.5% - - - HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat LRIG1 26018 genome.wustl.edu 37 3 66457908 66457908 + Missense_Mutation SNP A A T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_015541.2 -1 validated p.S315T 1.000 62 0% 41 34.1% 117 49.5% possibly_damaging(0.747) tolerated(0.14) deleterious(0.524) HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like ROBO1 6091 genome.wustl.edu 37 3 78719377 78719377 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_002941.3 -1 reviewed p.V473I 0.967 91 0% 94 33% 2 0% benign(0) tolerated(0.28) neutral(0.032) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin PROS1 5627 genome.wustl.edu 37 3 93646230 93646231 + Frame_Shift_Ins INS - - A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_000313.3 -1 reviewed p.S33fs 1.000:1.000 - - - - - - - - - HMMSmart_GLA COL8A1 1295 genome.wustl.edu 37 3 99514217 99514217 + Missense_Mutation SNP A A G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001850.3 +1 reviewed p.Q491R 0.960 30 0% 30 30% 4 0% unknown(0) tolerated(0.45) - HMMPfam_Collagen PCNP 57092 genome.wustl.edu 37 3 101298828 101298828 + Missense_Mutation SNP T T G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_020357.1 +1 provisional p.S87A 1.000 275 0.4% 352 27.3% 94 42.5% possibly_damaging(0.754) deleterious(0) deleterious(0.723) NULL ALCAM 214 genome.wustl.edu 37 3 105266046 105266046 + Silent SNP T T C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea ENST00000465413 +1 known p.C147R 1.000 269 0% 196 30.6% 3 66.6% - - - HMMSmart_SM00409,superfamily_Immunoglobulin SLC9A10 285335 genome.wustl.edu 37 3 111898454 111898454 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_183061.1 -1 validated p.G948E 1.000 491 0% 416 32.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_cNMP_binding,superfamily_cAMP-binding domain-like C3orf17 25871 genome.wustl.edu 37 3 112736398 112736398 + Missense_Mutation SNP A A G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_015412.3 -1 validated p.L53P 0.850 423 0.2% 401 31.7% 13 46.1% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL SPICE1 152185 genome.wustl.edu 37 3 113166933 113166934 + Frame_Shift_Ins INS - - T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_144718.3 -1 validated p.S793fs 0.985:0.986 - - - - - - - - - NULL ZBTB20 26137 genome.wustl.edu 37 3 114070442 114070442 + Silent SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_015642.4 -1 validated p.G88 1.000 28 0% 43 20.9% 0 - - - - HMMSmart_BTB,superfamily_BTB/POZ_fold,HMMPfam_BTB ARHGAP31 57514 genome.wustl.edu 37 3 119101138 119101138 + Splice_Site SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_020754.2 +1 reviewed e5-1 1.000 130 0.8% 128 34.4% 0 - - - - - ARHGAP31 57514 genome.wustl.edu 37 3 119120921 119120921 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_020754.2 +1 reviewed p.P441L 0.909 111 0% 102 34.3% 3 0% possibly_damaging(0.737) deleterious(0) deleterious(0.714) NULL ARHGAP31 57514 genome.wustl.edu 37 3 119120929 119120929 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_020754.2 +1 reviewed p.E444K 0.997 111 0% 94 30.9% 1 0% possibly_damaging(0.949) deleterious(0) deleterious(0.838) NULL TMEM39A 55254 genome.wustl.edu 37 3 119150896 119150896 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_018266.1 -1 provisional p.R467W 1.000 172 0.6% 173 31.2% 40 45% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Tmp39 POPDC2 64091 genome.wustl.edu 37 3 119379077 119379077 + Missense_Mutation SNP A A G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_022135.2 -1 reviewed p.V65A 1.000 111 0% 146 39% 2 0% benign(0.002) tolerated(0.59) neutral(0.004) NULL C3orf15 89876 genome.wustl.edu 37 3 119456235 119456235 + Missense_Mutation SNP A A G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_033364.3 +1 validated p.K456R 0.670 210 0% 235 31.5% 2 100% benign(0.006) tolerated(0.5) neutral(0.010) NULL ILDR1 286676 genome.wustl.edu 37 3 121712209 121712209 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_175924.2 -1 provisional p.R419C 0.977 46 0% 49 34.7% 33 51.5% probably_damaging(0.97) deleterious(0.02) deleterious(0.795) NULL ROPN1 54763 genome.wustl.edu 37 3 123699277 123699277 + Silent SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_017578.2 -1 provisional p.L18 1.000 153 0% 122 31.1% 0 - - - - HMMPfam_RIIa,superfamily_Dimerization-anchoring domain of cAMP-dependent type II PK regulatory subunit PODXL2 50512 genome.wustl.edu 37 3 127390454 127390454 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_015720.2 +1 validated p.V535M 1.000 55 0% 48 33.3% 190 43.6% benign(0.001) deleterious(0.02) neutral(0.383) HMMPfam_CD34_antigen ISY1 57461 genome.wustl.edu 37 3 128852998 128852999 + Frame_Shift_Del DEL CT CT - novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 CT CT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_020701.2 -1 provisional p.E194fs 1.000:1.000 - - - - - - - - - HMMPfam_Isy1 PLXND1 23129 genome.wustl.edu 37 3 129304866 129304866 + Missense_Mutation SNP T T C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_015103.2 -1 validated p.S594G 0.985 57 0% 41 29.3% 6 0% benign(0.003) tolerated(0.71) neutral(0.002) HMMPfam_PSI,HMMSmart_SM00423,superfamily_Plexin repeat ACAD11 84129 genome.wustl.edu 37 3 132294651 132294651 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_032169.4 -1 validated p.Q656* 0.924 164 0% 195 34.9% 16 43.7% - - - HMMPfam_Acyl-CoA_dh_1,superfamily_Acyl-CoA dehydrogenase C-terminal domain-like UBA5 79876 genome.wustl.edu 37 3 132394464 132394464 + Silent SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_024818.3 +1 reviewed p.L322 0.001 332 0.3% 343 30.6% 39 25.6% - - - superfamily_MoeB SOX14 8403 genome.wustl.edu 37 3 137483660 137483660 + Missense_Mutation SNP A A G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_004189.2 +1 reviewed p.M12V 1.000 90 0% 75 32% 7 14.2% possibly_damaging(0.817) deleterious(0) deleterious(0.754) HMMPfam_HMG_box,HMMSmart_SM00398,superfamily_HMG-box PRR23A 729627 genome.wustl.edu 37 3 138724531 138724531 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001134659.1 -1 validated p.P194S 0.001 94 0% 152 35.5% 0 - probably_damaging(0.991) tolerated(0.15) deleterious(0.685) HMMPfam_DUF2476 ZIC4 84107 genome.wustl.edu 37 3 147113849 147113849 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea ENST00000383075 -1 known p.V160M 1.000 103 0% 91 29.7% 9 44.4% benign(0.194) tolerated(0.13) neutral(0.271) HMMSmart_SM00355 CPA3 1359 genome.wustl.edu 37 3 148586744 148586744 + Missense_Mutation SNP A A G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001870.2 +1 reviewed p.N63D 0.390 317 0% 295 29.2% 0 - benign(0) tolerated(0.84) neutral(0.001) HMMPfam_Propep_M14,superfamily_Protease propeptides/inhibitors HPS3 84343 genome.wustl.edu 37 3 148857972 148857972 + Silent SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_032383.3 +1 reviewed p.S133 0.000 329 0.3% 358 30.7% 10 30% - - - NULL PLCH1 23007 genome.wustl.edu 37 3 155303984 155303984 + Splice_Site SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001130960.1 -1 validated e4-1 0.040 326 0% 285 27.4% 0 - - - - - MFSD1 64747 genome.wustl.edu 37 3 158524834 158524834 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_022736.2 +1 validated p.G112D 1.000 497 0% 477 28.1% 28 39.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MFS_1,superfamily_MFS general substrate transporter PDCD10 11235 genome.wustl.edu 37 3 167422642 167422642 + Silent SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea ENST00000479121 -1 known p.R27C 1.000 285 0% 251 27.1% 37 56.7% - - - HMMPfam_DUF1241 SLC2A2 6514 genome.wustl.edu 37 3 170732400 170732400 + Missense_Mutation SNP T T G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_000340.1 -1 reviewed p.K77Q 0.000 593 0% 568 35.4% 0 - benign(0) tolerated(0.53) neutral(0.007) HMMPfam_Sugar_tr,superfamily_MFS_gen_substrate_transporter PIK3CA 5290 genome.wustl.edu 37 3 178921567 178921567 + Missense_Mutation SNP A A G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_006218.2 +1 reviewed p.D350G 1.000 142 0% 125 32% 2 0% possibly_damaging(0.46) tolerated(0.07) deleterious(0.470) HMMSmart_C2,HMMPfam_PI3K_C2,HMMSmart_PI3K_C2,superfamily_C2_CaLB CPN2 1370 genome.wustl.edu 37 3 194063023 194063023 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001080513.2 -1 validated p.P137S 0.775 75 0% 77 28.6% 0 - benign(0.03) tolerated(0.26) neutral(0.036) HMMSmart_SM00369,superfamily_RNI-like SENP5 205564 genome.wustl.edu 37 3 196613008 196613008 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_152699.4 +1 validated p.T319M 0.941 92 0% 122 29.5% 7 42.8% possibly_damaging(0.823) deleterious(0) deleterious(0.756) NULL KIAA0226 9711 genome.wustl.edu 37 3 197411044 197411044 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001145642.2 -1 validated p.V566I 0.576 270 0.4% 352 29.8% 17 41.1% benign(0) tolerated(0.93) - NULL LMLN 89782 genome.wustl.edu 37 3 197702962 197702962 + Silent SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001136049.2 +1 reviewed p.A137 0.862 136 0% 161 29.2% 2 50% - - - "superfamily_Metalloproteases (""zincins"") catalytic domain" CRIPAK 285464 genome.wustl.edu 37 4 1389498 1389498 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_175918.3 +1 validated p.A400V 0.004 317 0% 200 12.5% 4 25% unknown(0) - - NULL ZFYVE28 57732 genome.wustl.edu 37 4 2307146 2307146 + Silent SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_020972.2 -1 validated p.A307 0.002 30 0% 23 60.9% 3 33.3% - - - NULL MFSD10 10227 genome.wustl.edu 37 4 2932777 2932777 + Silent SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea ENST00000514800 -1 known p.A421 0.000 19 0% 16 31.2% 18 61.1% - - - NULL HTT 3064 genome.wustl.edu 37 4 3101102 3101102 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_002111.6 +1 reviewed p.C150Y 1.000 299 0% 306 34.6% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ARM repeat RGS12 6002 genome.wustl.edu 37 4 3441311 3441311 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_198229.2 +1 reviewed p.A1415V 0.000 30 0% 19 31.6% 14 35.7% probably_damaging(0.959) deleterious(0) deleterious(0.847) NULL CPZ 8532 genome.wustl.edu 37 4 8620172 8620172 + Missense_Mutation SNP A A G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001014447.1 +1 reviewed p.K507R 1.000 124 0% 107 34.6% 32 0% probably_damaging(1) tolerated(0.11) deleterious(0.772) HMMSmart_SM00631,superfamily_Carboxypeptidase regulatory domain,superfamily_Zn-dependent exopeptidases RAB28 9364 genome.wustl.edu 37 4 13370220 13370220 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001017979.2 -1 reviewed p.V210I 0.992 441 0% 335 11.3% 25 12% benign(0) tolerated(0.26) neutral(0.034) HMMSmart_SM00176 CC2D2A 57545 genome.wustl.edu 37 4 15556736 15556736 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001080522.2 +1 reviewed p.S843* 0.996 261 0% 265 25.7% 3 0% - - - NULL GBA3 57733 genome.wustl.edu 37 4 22820448 22820448 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_020973.3 +1 validated p.V438I 0.989 370 0% 350 29.4% 11 54.5% possibly_damaging(0.484) tolerated(0.16) neutral(0.220) HMMPfam_Glyco_hydro_1,superfamily_(Trans)glycosidases SEPSECS 51091 genome.wustl.edu 37 4 25128911 25128911 + Silent SNP A A G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_016955.3 -1 validated p.H286 0.994 629 0% 542 12% 4 50% - - - HMMPfam_SLA_LP_auto_ag,superfamily_PLP-dependent transferases PCDH7 5099 genome.wustl.edu 37 4 30726238 30726238 + Missense_Mutation SNP T T C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_032456.1 +1 reviewed p.I1065T 0.000 180 0% 211 33.6% 4 75% - - - NULL RFC1 5981 genome.wustl.edu 37 4 39329345 39329345 + Silent SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_002913.3 -1 reviewed p.A121 0.971 529 0% 562 29% 4 100% - - - NULL UGDH 7358 genome.wustl.edu 37 4 39505541 39505541 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_003359.3 -1 reviewed p.R443H 0.997 249 0% 249 29.3% 69 42% probably_damaging(0.96) tolerated(0.1) deleterious(0.690) HMMPfam_UDPG_MGDP_dh_C,superfamily_UDP-Glc/GDP-Man_DH_C PHOX2B 8929 genome.wustl.edu 37 4 41750600 41750600 + Missense_Mutation SNP T T C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_003924.3 -1 reviewed p.N10D 1.000 78 0% 83 25.3% 0 - benign(0.202) deleterious(0.01) neutral(0.425) NULL ATP8A1 10396 genome.wustl.edu 37 4 42487677 42487677 + Silent SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_006095.2 -1 reviewed p.R720 1.000 205 0.5% 225 27.1% 0 - - - - HMMPfam_Hydrolase,superfamily_HAD-like LRRC66 339977 genome.wustl.edu 37 4 52883306 52883306 + Missense_Mutation SNP A A T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001024611.1 -1 provisional p.N158K 0.572 374 0% 395 28.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF52058 KDR 3791 genome.wustl.edu 37 4 55946114 55946114 + Silent SNP A A G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_002253.2 -1 reviewed p.P1355 1.000 383 0.3% 335 31.3% 7 0% - - - NULL KIAA1211 57482 genome.wustl.edu 37 4 57182397 57182397 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_020722.1 +1 validated p.R910Q 0.001 32 0% 46 43.5% 3 0% probably_damaging(0.999) deleterious(0.03) deleterious(0.855) NULL LPHN3 23284 genome.wustl.edu 37 4 62801729 62801729 + Silent SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea ENST00000502815 +1 known p.V185I 0.224 136 0% 162 30.2% 0 - - - - superfamily_Family A G protein-coupled receptor-like TMPRSS11D 9407 genome.wustl.edu 37 4 68699019 68699019 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_004262.2 -1 reviewed p.P199S 1.000 143 0% 151 31.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys SHROOM3 57619 genome.wustl.edu 37 4 77675764 77675764 + Silent SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_020859.3 +1 validated p.Q1376 0.806 41 0% 30 23.3% 13 53.8% - - - NULL LIN54 132660 genome.wustl.edu 37 4 83857172 83857172 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_194282.2 -1 validated p.R603* 1.000 568 0% 551 30.9% 5 40% - - - HMMPfam_CXC AGPAT9 84803 genome.wustl.edu 37 4 84519301 84519301 + Missense_Mutation SNP A A G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_032717.3 +1 validated p.D365G 0.999 213 0% 203 29.1% 4 50% possibly_damaging(0.93) deleterious(0.01) deleterious(0.782) NULL MEPE 56955 genome.wustl.edu 37 4 88767533 88767533 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_020203.3 +1 validated p.R505C 0.000 97 0% 106 30.2% 0 - unknown(0) tolerated(0.1) - NULL ATOH1 474 genome.wustl.edu 37 4 94750909 94750909 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_005172.1 +1 reviewed p.A278T 0.000 11 0% 14 35.7% 0 - benign(0) tolerated(0.13) neutral(0.253) NULL USP53 54532 genome.wustl.edu 37 4 120213660 120213660 + Missense_Mutation SNP C C A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_019050.2 +1 validated p.T839K 0.011 200 0% 237 34.6% 12 8.3% benign(0.318) tolerated(0.05) neutral(0.445) NULL PRDM5 11107 genome.wustl.edu 37 4 121737994 121737994 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_018699.2 -1 reviewed p.A246T 0.998 188 0% 210 26.7% 0 - benign(0.15) tolerated(0.24) neutral(0.050) HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers QRFPR 84109 genome.wustl.edu 37 4 122257983 122257983 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_198179.2 -1 validated p.M180I 1.000 143 0% 162 18.5% 0 - possibly_damaging(0.925) tolerated(0.05) deleterious(0.719) HMMPfam_7tm_1,superfamily_SSF81321 SPATA5 166378 genome.wustl.edu 37 4 123859394 123859394 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_145207.2 +1 validated p.G483D 1.000 385 0% 417 26.9% 2 50% probably_damaging(0.966) deleterious(0.02) deleterious(0.791) HMMSmart_SM00382,HMMPfam_AAA,superfamily_P-loop containing nucleoside triphosphate hydrolases ANKRD50 57182 genome.wustl.edu 37 4 125591680 125591680 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_020337.2 -1 validated p.R918W 0.995 176 0% 180 31.7% 6 66.6% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK FAT4 79633 genome.wustl.edu 37 4 126237935 126237935 + Silent SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_024582.4 +1 validated p.V123 1.000 56 0% 40 15% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like PCDH10 57575 genome.wustl.edu 37 4 134072331 134072331 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_032961.1 +1 reviewed p.V346M 1.000 61 0% 54 22.2% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like SLC10A7 84068 genome.wustl.edu 37 4 147204409 147204409 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001029998.3 -1 validated p.S261L 1.000 327 0.3% 272 27.6% 5 40% benign(0) tolerated(1) - NULL PLRG1 5356 genome.wustl.edu 37 4 155457811 155457811 + Silent SNP A A G rs140279149 by1000genomes TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea ENST00000503251 -1 known p.L102 0.000 118 0% 74 36.5% 20 50% - - - NULL NPY1R 4886 genome.wustl.edu 37 4 164246874 164246874 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_000909.4 -1 validated p.D246N 1.000 365 0% 312 30.1% 1 0% possibly_damaging(0.944) deleterious(0) deleterious(0.833) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like TRIM75 391714 genome.wustl.edu 37 4 165981570 165981570 + Missense_Mutation SNP T T C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea ENST00000322402 +1 known p.I424T 0.834 308 0.3% 355 31% 0 - - - - HMMPfam_SPRY,HMMSmart_SPRY TMEM192 201931 genome.wustl.edu 37 4 166000895 166000895 + Missense_Mutation SNP T T C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001100389.1 -1 validated p.Y244C 0.950 293 0% 363 30.9% 19 26.3% probably_damaging(0.993) deleterious(0) deleterious(0.895) NULL DDX60 55601 genome.wustl.edu 37 4 169158925 169158925 + Missense_Mutation SNP A A G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_017631.5 -1 validated p.S1396P 1.000 217 0% 246 28.9% 9 0% possibly_damaging(0.872) tolerated(0.97) neutral(0.339) NULL MTNR1A 4543 genome.wustl.edu 37 4 187455365 187455365 + Silent SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_005958.3 -1 reviewed p.C177 0.251 115 0% 143 27.3% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like MTNR1A 4543 genome.wustl.edu 37 4 187476384 187476384 + Missense_Mutation SNP G G T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_005958.3 -1 reviewed p.L46I 1.000 24 0% 20 40% 0 - benign(0.008) tolerated(0.92) - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like FAT1 2195 genome.wustl.edu 37 4 187525716 187525716 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_005245.3 -1 reviewed p.V3455M 0.871 176 0% 153 29.4% 8 12.5% benign(0.372) deleterious(0.03) deleterious(0.483) HMMPfam_Cadherin,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like TRIP13 9319 genome.wustl.edu 37 5 914627 914627 + Silent SNP A A G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_004237.3 +1 reviewed p.L356 0.657 196 0% 200 28% 15 26.6% - - - HMMPfam_AAA,superfamily_P-loop containing nucleoside triphosphate hydrolases SLC6A19 340024 genome.wustl.edu 37 5 1214103 1214103 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea ENST00000452116 +1 known p.R240C 0.993 125 0% 104 30.8% 0 - unknown(0) deleterious(0) - NULL IRX4 50805 genome.wustl.edu 37 5 1879636 1879636 + Missense_Mutation SNP T T C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_016358.2 -1 validated p.K240E 0.994 39 0% 35 25.7% 0 - probably_damaging(0.981) tolerated(0.1) deleterious(0.712) NULL ADAMTS16 170690 genome.wustl.edu 37 5 5186275 5186275 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_139056.2 +1 reviewed p.V292M 1.000 178 0% 200 34.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) "HMMPfam_Reprolysin,superfamily_Metalloproteases (""zincins"") catalytic domain" ADAMTS16 170690 genome.wustl.edu 37 5 5239954 5239954 + Silent SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_139056.2 +1 reviewed p.G813 0.571 169 0% 163 28.2% 1 0% - - - HMMPfam_ADAM_spacer1 DNAH5 1767 genome.wustl.edu 37 5 13770947 13770947 + Silent SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001369.2 -1 reviewed p.H3172 0.789 348 0% 346 29.5% 1 0% - - - superfamily_SSF52540 DNAH5 1767 genome.wustl.edu 37 5 13781062 13781062 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001369.2 -1 reviewed p.R2943C 0.986 118 0% 126 29.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF52540 ANKH 56172 genome.wustl.edu 37 5 14871449 14871449 + Silent SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea ENST00000505140 -1 known p.G36 0.045 43 0% 33 48.5% 0 - - - - NULL FAM134B 54463 genome.wustl.edu 37 5 16477780 16477783 + Frame_Shift_Del DEL TGTC TGTC - novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 TGTC TGTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001034850.1 -1 reviewed p.D330fs 1.000:1.000:1.000:1.000 - - - - - - - - - NULL SKP2 6502 genome.wustl.edu 37 5 36168425 36168425 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_005983.2 +1 reviewed p.V183I 0.614 432 0% 364 32.4% 23 43.4% benign(0.005) tolerated(0.13) neutral(0.253) superfamily_RNI-like C5orf42 65250 genome.wustl.edu 37 5 37154018 37154018 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_023073.3 -1 predicted p.R1577W 0.000 196 0% 204 28.9% 1 100% possibly_damaging(0.748) deleterious(0.04) deleterious(0.623) NULL OSMR 9180 genome.wustl.edu 37 5 38885529 38885529 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_003999.2 +1 reviewed p.T261M 0.000 308 0% 264 32.6% 7 0% possibly_damaging(0.566) tolerated(0.11) neutral(0.465) superfamily_Fibronectin type III DAB2 1601 genome.wustl.edu 37 5 39377026 39377026 + Silent SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001343.2 -1 validated p.Q621 0.993 236 0% 265 29.1% 16 0% - - - NULL C7 730 genome.wustl.edu 37 5 40947793 40947793 + Missense_Mutation SNP C C A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_000587.2 +1 reviewed p.F276L 1.000 332 0% 312 34.3% 0 - possibly_damaging(0.822) tolerated(0.07) deleterious(0.630) HMMPfam_MACPF,HMMSmart_MACPF SEPP1 6414 genome.wustl.edu 37 5 42800932 42800932 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001093726.1 -1 reviewed p.R376C 1.000 192 0% 170 28.8% 151 41.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SelP_C ADAMTS6 11174 genome.wustl.edu 37 5 64755998 64755998 + Silent SNP C C G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_197941.2 -1 reviewed p.S210 0.998 410 0% 429 32.9% 1 100% - - - NULL TRIM23 373 genome.wustl.edu 37 5 64887706 64887706 + Missense_Mutation SNP G G T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001656.3 -1 reviewed p.R539S 1.000 341 0% 246 29.3% 7 42.8% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00175,HMMSmart_SM00178,HMMSmart_SM00177,PatternScan_ARF,HMMPfam_Arf,superfamily_P-loop containing nucleoside triphosphate hydrolases ERBB2IP 55914 genome.wustl.edu 37 5 65338922 65338922 + Missense_Mutation SNP A A G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_018695.2 +1 reviewed p.N442D 1.000 289 0% 300 36% 12 33.3% possibly_damaging(0.577) tolerated(0.13) neutral(0.451) superfamily_SSF52058 SREK1 140890 genome.wustl.edu 37 5 65466625 65466625 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001077199.1 +1 validated p.R445Q 1.000 431 0.2% 680 30.3% 20 40% unknown(0) deleterious(0.03) - superfamily_SSF54928 PIK3R1 5295 genome.wustl.edu 37 5 67591097 67591097 + Missense_Mutation SNP A A G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_181523.1 +1 reviewed p.N564D 1.000 452 0% 428 29.9% 285 49.8% probably_damaging(0.998) deleterious(0.02) deleterious(0.857) NULL BDP1 55814 genome.wustl.edu 37 5 70782440 70782440 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_018429.2 +1 reviewed p.R400Q 0.968 201 0% 231 27.7% 4 50% possibly_damaging(0.914) deleterious(0.02) deleterious(0.749) NULL MCCC2 64087 genome.wustl.edu 37 5 70900281 70900281 + Missense_Mutation SNP A A G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_022132.4 +1 reviewed p.K204E 0.997 419 0% 442 16.5% 41 29.2% benign(0) tolerated(0.55) neutral(0.007) HMMPfam_Carboxyl_trans,superfamily_ClpP/crotonase ZNF366 167465 genome.wustl.edu 37 5 71756235 71756235 + Silent SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_152625.1 -1 provisional p.R363 0.716 125 0% 119 29.4% 0 - - - - superfamily_C2H2 and C2HC zinc fingers ANKRD31 256006 genome.wustl.edu 37 5 74441954 74441954 + Missense_Mutation SNP T T G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea ENST00000274361 -1 known p.K1094N 0.274 413 0% 401 25.9% 0 - benign(0.316) deleterious(0) deleterious(0.543) superfamily_ANK CETN3 1070 genome.wustl.edu 37 5 89695217 89695217 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_004365.2 -1 reviewed p.R140* 1.000 620 0.3% 547 30.2% 30 33.3% - - - HMMSmart_EFh,HMMPfam_efhand,superfamily_SSF47473 GPR98 84059 genome.wustl.edu 37 5 90070029 90070029 + Silent SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_032119.3 +1 reviewed p.L4104 0.838 275 0% 284 39.1% 1 0% - - - HMMPfam_Calx-beta,HMMSmart_SM00237 NR2F1 7025 genome.wustl.edu 37 5 92923860 92923860 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_005654.4 +1 provisional p.A234V 1.000 95 0% 49 26.5% 3 33.3% possibly_damaging(0.932) deleterious(0) deleterious(0.823) HMMPfam_Hormone_recep,HMMSmart_HOLI,superfamily_Str_ncl_receptor KIAA0825 285600 genome.wustl.edu 37 5 93739379 93739380 + Frame_Shift_Del DEL CA CA - novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 CA CA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001145678.1 -1 validated p.C927fs 0.004:0.000 - - - - - - - - - NULL TTC37 9652 genome.wustl.edu 37 5 94857817 94857817 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_014639.2 -1 provisional p.A651V 1.000 627 0% 550 20.5% 10 30% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TPR_1,HMMSmart_TPR,superfamily_Prenyl_trans P4HA2 8974 genome.wustl.edu 37 5 131546185 131546185 + Silent SNP A A G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001142599.1 -1 reviewed p.D167 0.648 180 0% 189 29.1% 92 38% - - - NULL SEPT8 23176 genome.wustl.edu 37 5 132097284 132097284 + Silent SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001098811.1 -1 validated p.L276 0.084 134 0% 115 26.1% 18 27.7% - - - HMMPfam_Septin FSTL4 23105 genome.wustl.edu 37 5 132556523 132556523 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_015082.1 -1 validated p.D459N 0.976 189 0% 186 24.7% 1 0% benign(0.054) tolerated(0.14) neutral(0.253) superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase TRPC7 57113 genome.wustl.edu 37 5 135610370 135610370 + Silent SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea ENST00000378459 -1 known p.V312M 1.000 136 0.7% 184 30.4% 0 - - - - NULL EGR1 1958 genome.wustl.edu 37 5 137801538 137801538 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001964.2 +1 reviewed p.D30N 1.000 68 0% 42 31% 37 24.3% benign(0.138) deleterious(0) neutral(0.456) NULL PCDHA3 56145 genome.wustl.edu 37 5 140181480 140181480 + Missense_Mutation SNP T T C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_018906.2 +1 reviewed p.L233S 0.163 68 0% 82 29.3% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like PCDHA7 56141 genome.wustl.edu 37 5 140214439 140214439 + Silent SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_018910.2 +1 reviewed p.A157 0.000 122 0% 160 11.3% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHA9 9752 genome.wustl.edu 37 5 140228551 140228551 + Silent SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_031857.1 +1 reviewed p.A157 0.000 114 0% 92 40.2% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHB1 29930 genome.wustl.edu 37 5 140431547 140431547 + Silent SNP T T C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_013340.2 +1 reviewed p.L164 0.054 38 0% 38 28.9% 0 - - - - HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHB8 56128 genome.wustl.edu 37 5 140559706 140559706 + Silent SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_019120.2 +1 reviewed p.S697 0.001 75 0% 46 26.1% 0 - - - - NULL PCDHB16 57717 genome.wustl.edu 37 5 140562523 140562523 + Missense_Mutation SNP C C A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_020957.1 +1 reviewed p.S130Y 0.984 89 0% 100 28% 0 - possibly_damaging(0.902) deleterious(0.03) deleterious(0.722) PatternScan_CADHERIN_1,superfamily_Cadherin PCDHGA6 56109 genome.wustl.edu 37 5 140753715 140753715 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_018919.2 +1 reviewed p.T22M 0.000 43 0% 31 32.3% 0 - benign(0.005) tolerated(0.33) neutral(0.024) superfamily_Cadherin-like PCDHGA7 56108 genome.wustl.edu 37 5 140763116 140763116 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_018920.2 +1 reviewed p.G217D 1.000 33 0% 30 43.3% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like CAMK2A 815 genome.wustl.edu 37 5 149669140 149669140 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_015981.3 -1 reviewed p.E17K 1.000 172 0% 174 31.6% 0 - probably_damaging(0.962) tolerated(0.25) neutral(0.442) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase FAT2 2196 genome.wustl.edu 37 5 150946360 150946360 + Silent SNP G G T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001447.2 -1 reviewed p.T711 0.163 157 0% 131 32.8% 0 - - - - superfamily_Cadherin-like GALNT10 55568 genome.wustl.edu 37 5 153709263 153709263 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_198321.3 +1 reviewed p.A178V 1.000 177 0% 162 29.6% 39 38.4% possibly_damaging(0.437) tolerated(0.1) neutral(0.429) HMMPfam_Glycos_transf_2,superfamily_Nucleotide-diphospho-sugar transferases LARP1 23367 genome.wustl.edu 37 5 154181809 154181809 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_015315.3 +1 validated p.M576I 1.000 120 0% 144 27.8% 35 17.1% benign(0.004) tolerated(0.36) neutral(0.020) PatternScan_CYTOCHROME_B5_1 GEMIN5 25929 genome.wustl.edu 37 5 154278046 154278046 + Missense_Mutation SNP T T A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_015465.3 -1 validated p.N1100I 1.000 134 0% 117 25.6% 7 42.8% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL ITK 3702 genome.wustl.edu 37 5 156608074 156608074 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_005546.3 +1 reviewed p.R29H 1.000 234 0% 270 29.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like CLINT1 9685 genome.wustl.edu 37 5 157214917 157214917 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_014666.2 -1 validated p.P539S 1.000 184 0% 205 33.2% 70 42.8% benign(0.001) deleterious(0.04) neutral(0.349) NULL ODZ2 57451 genome.wustl.edu 37 5 167674260 167674260 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001122679.1 +1 inferred p.V2097I 0.981 235 0.4% 239 30.5% 1 100% benign(0.008) tolerated(0.43) neutral(0.013) superfamily_Concanavalin A-like lectins/glucanases SLIT3 6586 genome.wustl.edu 37 5 168201376 168201376 + Missense_Mutation SNP T T C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_003062.2 -1 validated p.N387D 1.000 262 0.4% 248 28.6% 3 0% probably_damaging(0.998) deleterious(0.04) deleterious(0.823) HMMSmart_SM00369,superfamily_RNI-like CCDC99 54908 genome.wustl.edu 37 5 169023625 169023625 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_017785.4 +1 validated p.R318W 1.000 251 0.4% 208 24.5% 11 36.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL C5orf47 133491 genome.wustl.edu 37 5 173416339 173416339 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001144954.1 +1 validated p.Q25* 0.781 34 0% 30 26.7% 0 - - - - NULL C5orf25 375484 genome.wustl.edu 37 5 175717498 175717498 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea ENST00000420396 +1 known p.P305L 0.000 183 0% 189 27.5% 6 50% benign(0.042) tolerated(0.19) neutral(0.052) NULL HK3 3101 genome.wustl.edu 37 5 176323160 176323160 + Missense_Mutation SNP T T C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_002115.2 -1 reviewed p.M1V 0.996 88 0% 78 24.4% 1 0% possibly_damaging(0.612) deleterious(0) deleterious(0.656) NULL LMAN2 10960 genome.wustl.edu 37 5 176759170 176759170 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_006816.2 -1 reviewed p.A330T 0.983 22 0% 32 21.9% 464 45.4% benign(0.074) tolerated(0.23) neutral(0.046) NULL GRK6 2870 genome.wustl.edu 37 5 176860543 176860543 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_002082.3 +1 reviewed p.A202T 1.000 90 0% 137 32.8% 37 45.9% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_S_TKc,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase DDX41 51428 genome.wustl.edu 37 5 176943382 176943382 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_016222.2 -1 reviewed p.E69K 1.000 131 0.8% 146 30.8% 72 33.3% benign(0) tolerated(0.82) neutral(0.001) NULL RMND5B 64777 genome.wustl.edu 37 5 177565123 177565123 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_022762.3 +1 provisional p.M1I 1.000 55 0% 68 22.1% 22 45.4% benign(0.029) deleterious(0) neutral(0.446) NULL COL23A1 91522 genome.wustl.edu 37 5 177669356 177669356 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_173465.3 -1 validated p.E494K 0.984 294 0.3% 324 34.9% 12 33.3% benign(0.034) tolerated(0.13) neutral(0.255) HMMPfam_Collagen MGAT4B 11282 genome.wustl.edu 37 5 179228876 179228876 + Missense_Mutation SNP A A G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_054013.3 -1 reviewed p.L79P 1.000 55 0% 46 23.9% 78 47.4% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ZFP62 643836 genome.wustl.edu 37 5 180277030 180277030 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_152283.4 -1 validated p.R429C 1.000 323 0% 311 32.8% 9 44.4% probably_damaging(1) tolerated(0.2) deleterious(0.549) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers BTNL8 79908 genome.wustl.edu 37 5 180329343 180329344 + Splice_Site INS - - A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea ENST00000400707 +1 known e1-2 0.000:0.000 - - - - - - - - - - NQO2 4835 genome.wustl.edu 37 6 3012908 3012908 + Missense_Mutation SNP G G T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_000904.3 +1 validated p.Q101H 1.000 413 0% 433 26.6% 36 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Flavodoxin_2,superfamily_Flavoproteins TUBB2A 7280 genome.wustl.edu 37 6 3154249 3154249 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001069.2 -1 validated p.H396Y 1.000 84 0% 118 17.8% 308 1.9% benign(0.109) deleterious(0) neutral(0.453) superfamily_Tubulin C-terminal domain-like PRPF4B 8899 genome.wustl.edu 37 6 4041056 4041056 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_003913.4 +1 reviewed p.R488H 0.998 168 0% 211 33.2% 16 50% unknown(0) deleterious(0.03) - NULL DSP 1832 genome.wustl.edu 37 6 7581583 7581585 + In_Frame_Del DEL AGA AGA - novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 AGA AGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_004415.2 +1 reviewed p.E1723in_frame_del 0.998:1.000:1.000 - - - - - - - - - superfamily_Prefoldin RANBP9 10048 genome.wustl.edu 37 6 13622674 13622674 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_005493.2 -1 reviewed p.A704T 1.000 224 0% 190 32.1% 37 51.3% possibly_damaging(0.705) deleterious(0.02) deleterious(0.637) HMMSmart_SM00757,HMMPfam_RanBPM_CRA HIST1H2AB 8335 genome.wustl.edu 37 6 26033624 26033624 + Missense_Mutation SNP T T C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_003513.2 -1 reviewed p.Y58C 1.000 77 0% 65 30.8% 4 75% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00414,HMMPfam_Histone,superfamily_Histone-fold BTN1A1 696 genome.wustl.edu 37 6 26509061 26509061 + Missense_Mutation SNP C C A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001732.2 +1 validated p.P414T 0.346 132 0% 147 27.2% 0 - benign(0.024) tolerated(0.21) neutral(0.045) HMMPfam_SPRY,HMMSmart_SM00449 HIST1H1B 3009 genome.wustl.edu 37 6 27835090 27835090 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_005322.2 -1 reviewed p.G73D 1.000 140 0% 82 28% 4 75% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Linker_histone,HMMSmart_H15,superfamily_SSF46785 OR2B3 442184 genome.wustl.edu 37 6 29054679 29054679 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001005226.2 -1 validated p.A116V 0.044 248 0% 233 33.9% 0 - possibly_damaging(0.86) tolerated(0.29) neutral(0.362) HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like PPP1R10 5514 genome.wustl.edu 37 6 30569420 30569420 + Missense_Mutation SNP G G T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_002714.2 -1 reviewed p.P910H 1.000 89 1.1% 72 25% 87 43.6% unknown(0) deleterious(0) - HMMPfam_zf-CCCH,HMMSmart_SM00356 NOTCH4 4855 genome.wustl.edu 37 6 32182016 32182017 + Frame_Shift_Del DEL CA CA - novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 CA CA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_004557.3 -1 reviewed p.C679fs 1.000:1.000 - - - - - - - - - HMMSmart_SM00181,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_EGF/Laminin KIFC1 3833 genome.wustl.edu 37 6 33374387 33374387 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_002263.3 +1 validated p.R616W 1.000 340 0% 453 29.4% 36 8.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Kinesin,HMMSmart_KISc,superfamily_SSF52540 GRM4 2914 genome.wustl.edu 37 6 34003589 34003589 + Silent SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_000841.1 -1 reviewed p.T766 0.938 58 0% 71 32.4% 0 - - - - HMMPfam_7tm_3 STK38 11329 genome.wustl.edu 37 6 36489539 36489539 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_007271.2 -1 provisional p.R121H 1.000 282 0% 312 26.9% 11 54.5% possibly_damaging(0.896) tolerated(0.05) deleterious(0.699) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase FGD2 221472 genome.wustl.edu 37 6 36993702 36993702 + Silent SNP G G T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_173558.3 +1 validated p.R531 0.013 51 2% 50 28% 6 0% - - - NULL FTSJD2 23070 genome.wustl.edu 37 6 37439655 37439655 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_015050.2 +1 validated p.R532Q 1.000 83 1.2% 107 25.2% 12 66.6% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) NULL DNAH8 1769 genome.wustl.edu 37 6 38746191 38746191 + Missense_Mutation SNP A A G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001371.2 +1 validated p.S447G 0.392 263 0% 203 17.2% 0 - benign(0.026) tolerated(0.45) neutral(0.013) HMMPfam_DHC_N1 GLP1R 2740 genome.wustl.edu 37 6 39033490 39033490 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_002062.3 +1 validated p.P96L 0.624 79 0% 101 35.6% 0 - benign(0) tolerated(0.37) neutral(0.019) HMMPfam_HRM,HMMSmart_SM00008,superfamily_Hormone receptor domain (HRM Pfam 02793) TSPO2 222642 genome.wustl.edu 37 6 41011860 41011860 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001010873.2 +1 validated p.T166M 0.000 99 0% 100 30% 0 - benign(0.001) tolerated(0.09) neutral(0.296) NULL MDFI 4188 genome.wustl.edu 37 6 41617479 41617479 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_005586.3 +1 reviewed p.R128W 1.000 113 0% 132 31.1% 5 20% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CUL7 9820 genome.wustl.edu 37 6 43018803 43018803 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_014780.4 -1 reviewed p.P379L 0.845 147 0% 174 33.3% 10 40% benign(0.079) deleterious(0.05) neutral(0.351) NULL PTK7 5754 genome.wustl.edu 37 6 43099813 43099813 + Missense_Mutation SNP T T C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_002821.3 +1 reviewed p.V291A 1.000 97 0% 140 37.9% 102 33.3% probably_damaging(0.999) tolerated(0.08) deleterious(0.790) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin SLC22A7 10864 genome.wustl.edu 37 6 43267398 43267398 + Silent SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_153320.2 +1 reviewed p.Y179 0.754 152 0.7% 138 36.2% 0 - - - - HMMPfam_MFS_1,superfamily_MFS general substrate transporter ENPP4 22875 genome.wustl.edu 37 6 46107741 46107741 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_014936.4 +1 validated p.V141I 0.992 232 0% 255 37.6% 18 61.1% possibly_damaging(0.76) deleterious(0.02) deleterious(0.664) HMMPfam_Phosphodiest,superfamily_Alkaline_phosphatase_core PGK2 5232 genome.wustl.edu 37 6 49754434 49754434 + Missense_Mutation SNP T T G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_138733.4 -1 reviewed p.K156T 0.997 369 0% 346 35% 0 - benign(0.021) tolerated(0.06) neutral(0.324) HMMPfam_PGK,superfamily_PGK TFAP2B 7021 genome.wustl.edu 37 6 50810967 50810967 + Silent SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_003221.3 +1 reviewed p.T415 0.722 70 0% 56 25% 0 - - - - HMMPfam_TF_AP-2 GSTA5 221357 genome.wustl.edu 37 6 52705592 52705592 + Missense_Mutation SNP A A T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_153699.1 -1 provisional p.L7H 0.998 529 0% 479 36.7% 0 - probably_damaging(0.988) deleterious(0) deleterious(0.882) HMMPfam_GST_N,superfamily_Thiordxn-like_fd COL21A1 81578 genome.wustl.edu 37 6 56006731 56006731 + Missense_Mutation SNP T T C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_030820.3 -1 reviewed p.I495M 0.992 176 0.6% 233 36.1% 56 42.8% possibly_damaging(0.843) tolerated(0.1) deleterious(0.609) HMMPfam_Collagen FAM135A 57579 genome.wustl.edu 37 6 71266481 71266481 + Silent SNP A A G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001105531.2 +1 validated p.L1223 0.993 247 0% 223 21.5% 5 20% - - - HMMPfam_DUF676,superfamily_SSF53474 SLC17A5 26503 genome.wustl.edu 37 6 74331659 74331659 + Missense_Mutation SNP C C A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_012434.4 -1 reviewed p.W282C 0.998 117 0% 129 30.2% 12 66.6% possibly_damaging(0.505) deleterious(0.04) deleterious(0.518) HMMPfam_MFS_1,superfamily_MFS general substrate transporter COL12A1 1303 genome.wustl.edu 37 6 75866094 75866094 + Silent SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_004370.5 -1 reviewed p.V1043 0.973 650 0.5% 455 25.9% 2 0% - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III FILIP1 27145 genome.wustl.edu 37 6 76022391 76022391 + Missense_Mutation SNP A A G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_015687.2 -1 validated p.Y1053H 0.998 315 0% 288 28.1% 10 30% benign(0) tolerated(0.57) neutral(0.006) NULL REV3L 5980 genome.wustl.edu 37 6 111710413 111710413 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_002912.3 -1 validated p.A253V 1.000 466 0% 479 34.2% 2 100% probably_damaging(0.998) - - superfamily_Ribonuclease H-like ZUFSP 221302 genome.wustl.edu 37 6 116973199 116973199 + Missense_Mutation SNP A A G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_145062.2 -1 validated p.L373S 0.998 254 0.8% 320 29.1% 8 50% probably_damaging(0.999) tolerated(0.05) deleterious(0.836) HMMPfam_Peptidase_C78 HEY2 23493 genome.wustl.edu 37 6 126080739 126080739 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_012259.2 +1 reviewed p.A269T 0.995 60 0% 38 39.5% 78 30.7% possibly_damaging(0.915) tolerated(0.33) neutral(0.391) NULL ARG1 383 genome.wustl.edu 37 6 131902388 131902388 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_000045.2 +1 reviewed p.A112V 1.000 198 0.5% 194 39.2% 0 - benign(0.263) tolerated(0.09) neutral(0.324) HMMPfam_Arginase,superfamily_Arginase/deacetylase ADGB 79747 genome.wustl.edu 37 6 147109545 147109545 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_024694.3 +1 provisional p.V1446I 0.000 323 0% 428 31.8% 3 66.6% unknown(0) deleterious(0) - NULL SCAF8 22828 genome.wustl.edu 37 6 155131195 155131195 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_014892.3 +1 validated p.R425C 1.000 228 0% 276 30.8% 13 38.4% unknown(0) deleterious(0) - NULL ARID1B 57492 genome.wustl.edu 37 6 157505432 157505432 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_017519.2 +1 validated p.A1120V 1.000 182 0% 160 32.5% 16 37.5% probably_damaging(0.981) deleterious(0) deleterious(0.870) HMMPfam_ARID,HMMSmart_SM00501,superfamily_ARID-like FGFR1OP 11116 genome.wustl.edu 37 6 167417851 167417851 + Splice_Site SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea ENST00000494781 +1 known NULL 1.000 302 0% 302 27.2% 18 55.5% - - - - THBS2 7058 genome.wustl.edu 37 6 169641895 169641895 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_003247.2 -1 reviewed p.V285I 0.544 44 0% 32 25% 2 0% benign(0.002) tolerated(0.44) neutral(0.013) NULL DLL1 28514 genome.wustl.edu 37 6 170592488 170592488 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_005618.3 -1 reviewed p.A627T 0.000 345 0% 320 27.8% 2 0% benign(0.002) tolerated(0.87) neutral(0.001) NULL GPER 2852 genome.wustl.edu 37 7 1132793 1132793 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea ENST00000354575 +1 known p.R383C 0.000 1 0.000 4 1.000 2 0% unknown(0) deleterious(0) - NULL CARD11 84433 genome.wustl.edu 37 7 2958189 2958189 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_032415.3 -1 validated p.R848H 1.000 38 0% 23 52.2% 3 0% benign(0.376) deleterious(0.05) neutral(0.465) NULL FOXK1 221937 genome.wustl.edu 37 7 4794940 4794940 + Silent SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001037165.1 +1 validated p.L326 1.000 55 0% 41 39% 2 0% - - - "HMMPfam_Fork_head,HMMSmart_SM00339,superfamily_""Winged helix"" DNA-binding domain" RPA3 6119 genome.wustl.edu 37 7 7676636 7676636 + Missense_Mutation SNP C C A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_002947.3 -1 validated p.D121Y 0.870 320 0% 317 29.7% 71 33.8% possibly_damaging(0.945) deleterious(0.01) deleterious(0.795) NULL PHF14 9678 genome.wustl.edu 37 7 11082323 11082325 + In_Frame_Del DEL AAG AAG - novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 AAG AAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea ENST00000303905 +1 known p.K733in_frame_del 1.000:1.000:1.000 - - - - - - - - - HMMSmart_RING,HMMSmart_PHD,superfamily_FYVE_PHD_ZnF,PatternScan_ZF_PHD_1,HMMPfam_PHD PHF14 9678 genome.wustl.edu 37 7 11151056 11151056 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea ENST00000303905 +1 known p.G912* 1.000 282 0% 305 34.4% 39 51.2% - - - HMMSmart_RING,HMMSmart_PHD,superfamily_FYVE_PHD_ZnF,PatternScan_ZF_PHD_1,HMMPfam_PHD KLHL7 55975 genome.wustl.edu 37 7 23213806 23213806 + Silent SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001031710.2 +1 reviewed p.T550 0.988 620 0.2% 686 31.9% 20 25% - - - superfamily_Gal_oxid_central NOD1 10392 genome.wustl.edu 37 7 30491310 30491310 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_006092.2 -1 reviewed p.R575W 0.000 64 1.6% 61 32.8% 3 33.3% probably_damaging(0.967) deleterious(0.02) deleterious(0.792) NULL LOC100287857 100287857 genome.wustl.edu 37 7 30951513 30951513 + Missense_Mutation SNP C C G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea XM_002342698.1 -1 model p.G96A 0.996 42 0% 24 29.2% 3 0% - - - NULL MYL7 58498 genome.wustl.edu 37 7 44179033 44179033 + Silent SNP T T C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea ENST00000446581 -1 known p.A98 0.000 92 1.1% 96 32.3% 0 - - - - superfamily_EF-hand CAMK2B 816 genome.wustl.edu 37 7 44281858 44281858 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001220.4 -1 reviewed p.R260C 1.000 454 0.2% 411 24.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase NPC1L1 29881 genome.wustl.edu 37 7 44579394 44579394 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_013389.2 -1 reviewed p.R201H 1.000 65 0% 70 30% 0 - probably_damaging(1) tolerated(0.06) deleterious(0.823) NULL TNS3 64759 genome.wustl.edu 37 7 47408879 47408879 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_022748.10 -1 validated p.R455H 0.996 139 0% 110 35.5% 19 42.1% benign(0.095) deleterious(0) neutral(0.452) NULL NCF1 653361 genome.wustl.edu 37 7 74197397 74197397 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea ENST00000423544 +1 known p.R109* 0.925 103 0% 104 26.9% 25 0% - - - NULL POM121C 100101267 genome.wustl.edu 37 7 75051282 75051282 + Silent SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001099415.1 -1 validated p.T751 0.350 78 0% 55 23.6% 23 21.7% - - - NULL PHTF2 57157 genome.wustl.edu 37 7 77583130 77583130 + Silent SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001127357.1 +1 validated p.P718 0.014 769 0% 754 30.4% 7 57.1% - - - NULL MAGI2 9863 genome.wustl.edu 37 7 77789376 77789376 + Silent SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_012301.3 -1 reviewed p.S937 1.000 212 0% 190 25.3% 0 - - - - HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like SEMA3A 10371 genome.wustl.edu 37 7 83631353 83631353 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_006080.2 -1 reviewed p.T457I 1.000 449 0.2% 407 24.6% 1 0% probably_damaging(1) tolerated(0.16) deleterious(0.559) HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema SEMA3D 223117 genome.wustl.edu 37 7 84628823 84628823 + Missense_Mutation SNP A A G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_152754.2 -1 validated p.M756T 1.000 517 0% 446 36.5% 1 100% benign(0.019) tolerated(0.5) neutral(0.011) NULL ABCB4 5244 genome.wustl.edu 37 7 87069127 87069127 + Silent SNP T T C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_018849.2 -1 reviewed p.R529 0.999 298 0% 287 33.8% 0 - - - - HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases ABCB1 5243 genome.wustl.edu 37 7 87148649 87148649 + Missense_Mutation SNP C C A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_000927.3 -1 reviewed p.V974F 1.000 276 0% 237 20.3% 2 0% possibly_damaging(0.471) deleterious(0) deleterious(0.600) HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain SAMD9 54809 genome.wustl.edu 37 7 92731018 92731018 + Missense_Mutation SNP T T C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_017654.2 -1 validated p.K1465E 0.225 367 0% 325 29.2% 4 0% benign(0.001) tolerated(0.34) neutral(0.023) NULL TRRAP 8295 genome.wustl.edu 37 7 98563517 98563517 + Missense_Mutation SNP A A G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_003496.2 +1 validated p.Q2367R 1.000 148 0.7% 201 31.8% 8 25% possibly_damaging(0.919) deleterious(0.03) deleterious(0.734) superfamily_ARM repeat EPHB4 2050 genome.wustl.edu 37 7 100402872 100402872 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_004444.4 -1 reviewed p.R917Q 1.000 65 0% 59 25.4% 10 70% probably_damaging(0.994) tolerated(0.35) deleterious(0.473) HMMPfam_SAM_1,HMMSmart_SM00454,superfamily_SAM/Pointed domain MUC17 140453 genome.wustl.edu 37 7 100685493 100685495 + In_Frame_Del DEL CTT CTT - novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001040105.1 +1 provisional p.S3600in_frame_del 0.001:0.000:0.000 - - - - - - - - - NULL SH2B2 10603 genome.wustl.edu 37 7 101960877 101960877 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_020979.3 +1 reviewed p.R410H 0.099 54 0% 39 33.3% 7 42.8% benign(0.411) deleterious(0.02) deleterious(0.516) HMMPfam_SH2,HMMSmart_SM00252,superfamily_SH2 domain ALKBH4 54784 genome.wustl.edu 37 7 102100135 102100135 + Silent SNP A A G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_017621.2 -1 provisional p.F79 0.960 76 0% 60 26.7% 22 22.7% - - - NULL RELN 5649 genome.wustl.edu 37 7 103124180 103124180 + Silent SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_005045.3 -1 reviewed p.N3367 0.994 248 0% 201 23.4% 0 - - - - NULL RELN 5649 genome.wustl.edu 37 7 103175860 103175860 + Missense_Mutation SNP T T C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_005045.3 -1 reviewed p.N2418D 0.997 218 0% 247 35.6% 0 - possibly_damaging(0.605) tolerated(0.27) neutral(0.243) NULL LAMB1 3912 genome.wustl.edu 37 7 107596054 107596054 + Silent SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_002291.2 -1 reviewed p.G904 0.021 69 0% 46 39.1% 23 4.3% - - - HMMPfam_Laminin_EGF,HMMSmart_SM00180,PatternScan_EGF_LAM_1,HMMSmart_SM00181,superfamily_EGF/Laminin NRCAM 4897 genome.wustl.edu 37 7 107872778 107872778 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001037132.1 -1 reviewed p.R140H 1.000 238 0.8% 211 23.2% 0 - probably_damaging(1) tolerated(0.13) deleterious(0.752) HMMSmart_SM00409,HMMPfam_I-set DOCK4 9732 genome.wustl.edu 37 7 111503489 111503489 + Silent SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea ENST00000445943 -1 known p.C792Y 1.000 211 0% 161 29.8% 0 - - - - NULL C7orf53 286006 genome.wustl.edu 37 7 112124970 112124970 + Silent SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001134468.1 +1 validated p.L33 0.966 216 0% 173 29.5% 2 50% - - - NULL ST7 7982 genome.wustl.edu 37 7 116776255 116776257 + In_Frame_Del DEL ACA ACA - novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 ACA ACA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_021908.2 +1 reviewed p.Q278in_frame_del 0.986:1.000:1.000 - - - - - - - - - HMMPfam_ST7 KCND2 3751 genome.wustl.edu 37 7 119915040 119915040 + Silent SNP A A G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_012281.2 +1 reviewed p.E118 0.974 49 0% 61 37.7% 2 0% - - - HMMSmart_SM00225,HMMPfam_K_tetra,superfamily_POZ domain AASS 10157 genome.wustl.edu 37 7 121755197 121755197 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_005763.3 -1 reviewed p.A325V 0.999 568 0% 491 32.4% 2 50% benign(0.004) tolerated(0.35) neutral(0.021) HMMPfam_AlaDh_PNT_C SLC13A1 6561 genome.wustl.edu 37 7 122809361 122809361 + Missense_Mutation SNP C C A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_022444.3 -1 validated p.A132S 1.000 184 0% 202 30.2% 0 - benign(0.248) tolerated(0.16) neutral(0.084) HMMPfam_Na_sulph_symp WASL 8976 genome.wustl.edu 37 7 123388676 123388676 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_003941.2 -1 reviewed p.C38Y 1.000 77 0% 44 29.5% 16 56.2% possibly_damaging(0.604) deleterious(0) deleterious(0.654) HMMPfam_WH1,HMMSmart_WH1,superfamily_SSF50729 POT1 25913 genome.wustl.edu 37 7 124463994 124463994 + RNA SNP T T C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NR_003102.1 -1 reviewed NULL 0.000 534 0% 535 29.2% 19 47.3% - - - - GCC1 79571 genome.wustl.edu 37 7 127222758 127222758 + Silent SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_024523.5 -1 reviewed p.Q546 0.997 40 0% 41 22% 6 66.6% - - - NULL ENSG00000245606 0 genome.wustl.edu 37 7 130007729 130007729 + RNA SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea ENST00000501661 -1 known NULL 0.000 136 0% 113 28.3% 0 - - - - - PLXNA4 91584 genome.wustl.edu 37 7 132193204 132193204 + Silent SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_020911.1 -1 validated p.T83 0.967 89 0% 89 39.3% 0 - - - - HMMPfam_Sema,HMMSmart_SM00630,superfamily_Sema domain ATP6V0A4 50617 genome.wustl.edu 37 7 138440458 138440458 + Silent SNP A A G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_020632.2 -1 reviewed p.N264 0.539 390 0% 393 27.7% 8 37.5% - - - HMMPfam_V_ATPase_I OR2A2 442361 genome.wustl.edu 37 7 143807420 143807420 + Silent SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001005480.2 +1 validated p.L249 0.059 238 0% 206 26.7% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 CNTNAP2 26047 genome.wustl.edu 37 7 147964176 147964176 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_014141.5 +1 reviewed p.L1145F 0.170 580 0% 583 33.6% 0 - benign(0.014) deleterious(0.01) neutral(0.406) HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 SSPO 23145 genome.wustl.edu 37 7 149519672 149519672 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea ENST00000378016 +1 known p.R4388* 1.000 21 0% 24 33.3% 0 - - - - HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat ATG9B 285973 genome.wustl.edu 37 7 150721409 150721409 + Silent SNP A A T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_173681.5 -1 validated p.P34 0.575 21 0% 31 45.2% 0 - - - - NULL ABCB8 11194 genome.wustl.edu 37 7 150731004 150731004 + Silent SNP G G T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_007188.3 +1 reviewed p.V136 1.000 53 0% 37 35.1% 18 0% - - - HMMPfam_ABC_membrane,superfamily_ABC_TM_1 MLL3 58508 genome.wustl.edu 37 7 151896364 151896364 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_170606.2 -1 reviewed p.G1425S 1.000 213 0% 228 32.5% 0 - probably_damaging(0.996) - - NULL DLGAP2 9228 genome.wustl.edu 37 8 1626538 1626538 + Missense_Mutation SNP G G T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_004745.3 +1 reviewed p.S736I 0.999 95 0% 89 38.2% 0 - benign(0.202) tolerated(0.07) neutral(0.339) HMMPfam_GKAP CSMD1 64478 genome.wustl.edu 37 8 3057320 3057320 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_033225.5 -1 validated p.P1705S 1.000 104 0% 93 25.8% 0 - probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain DLC1 10395 genome.wustl.edu 37 8 12957014 12957014 + Silent SNP C C T rs189480946 by1000genomes TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_182643.2 -1 reviewed p.P944 0.007 232 0% 246 34.6% 3 0% - - - NULL INTS10 55174 genome.wustl.edu 37 8 19677892 19677892 + Missense_Mutation SNP T T G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_018142.2 +1 validated p.L102V 1.000 349 0.3% 289 35.3% 31 35.4% benign(0.02) tolerated(0.19) neutral(0.051) NULL EGR3 1960 genome.wustl.edu 37 8 22548571 22548571 + Silent SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_004430.2 -1 reviewed p.D193 1.000 179 0% 156 28.2% 6 66.6% - - - NULL LOXL2 4017 genome.wustl.edu 37 8 23167400 23167400 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_002318.2 -1 reviewed p.A554V 0.996 21 0% 21 28.6% 38 0% probably_damaging(0.976) tolerated(0.52) neutral(0.426) HMMPfam_Lysyl_oxidase KIF13B 23303 genome.wustl.edu 37 8 28989889 28989889 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_015254.3 -1 validated p.R960W 0.979 374 0% 300 30% 17 41.1% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL NRG1 3084 genome.wustl.edu 37 8 32505766 32505766 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_013959.3 +1 reviewed p.R177H 0.652 442 0.2% 458 32.8% 0 - possibly_damaging(0.774) deleterious(0.01) deleterious(0.694) NULL RAB11FIP1 80223 genome.wustl.edu 37 8 37729555 37729555 + Missense_Mutation SNP T T C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001002814.2 -1 validated p.Q922R 0.000 120 0% 114 28.1% 6 66.6% possibly_damaging(0.55) tolerated(0.09) deleterious(0.483) NULL ENSG00000206610 0 genome.wustl.edu 37 8 38023624 38023624 + RNA SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea ENST00000383883 -1 novel NULL 0.092 28 0% 317 36.9% 0 - - - - - CHRNA6 8973 genome.wustl.edu 37 8 42611583 42611584 + Frame_Shift_Del DEL AA AA - novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 AA AA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_004198.2 -1 provisional p.F253fs 0.943:1.000 - - - - - - - - - HMMPfam_Neur_chan_memb,superfamily_Neurotransmitter-gated ion-channel transmembrane pore PXDNL 137902 genome.wustl.edu 37 8 52336219 52336219 + Missense_Mutation SNP C C A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_144651.4 -1 validated p.G571W 0.016 367 0% 333 30.9% 1 0% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin PCMTD1 115294 genome.wustl.edu 37 8 52758276 52758278 + In_Frame_Del DEL CCA CCA - novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 CCA CCA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_052937.2 -1 validated p.V118in_frame_del 1.000:1.000:1.000 - - - - - - - - - superfamily_SSF53335 CYP7A1 1581 genome.wustl.edu 37 8 59410880 59410880 + Missense_Mutation SNP G G T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_000780.3 -1 reviewed p.H77N 1.000 270 0.4% 273 24.9% 0 - probably_damaging(0.981) tolerated(0.21) deleterious(0.469) HMMPfam_p450,superfamily_Cytochrome_P450 CHD7 55636 genome.wustl.edu 37 8 61778030 61778030 + Missense_Mutation SNP G G T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_017780.2 +1 reviewed p.E2844D 0.546 326 0.3% 363 25.9% 19 36.8% benign(0.002) tolerated(0.23) neutral(0.042) NULL SULF1 23213 genome.wustl.edu 37 8 70533368 70533368 + Silent SNP C C A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001128204.1 +1 validated p.L492 1.000 134 0% 153 21.6% 38 0% - - - superfamily_Alkaline_phosphatase_core PMP2 5375 genome.wustl.edu 37 8 82356797 82356797 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_002677.3 -1 validated p.Q96* 1.000 770 0% 909 24% 0 - - - - HMMPfam_Lipocalin,superfamily_Lipocalins E2F5 1875 genome.wustl.edu 37 8 86121540 86121540 + Missense_Mutation SNP T T C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001951.3 +1 reviewed p.V260A 0.002 246 0% 342 45.6% 35 71.4% benign(0) tolerated(1) - NULL CA1 759 genome.wustl.edu 37 8 86250487 86250487 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001128829.2 -1 reviewed p.R77* 0.984 646 0% 766 23.1% 0 - - - - HMMPfam_Carb_anhydrase,superfamily_Euk_COanhd INTS8 55656 genome.wustl.edu 37 8 95884116 95884116 + Missense_Mutation SNP C C A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_017864.2 +1 provisional p.Q807K 1.000 269 0.7% 369 23.3% 81 24.6% possibly_damaging(0.775) tolerated(0.68) neutral(0.290) NULL TSPYL5 85453 genome.wustl.edu 37 8 98289166 98289166 + Missense_Mutation SNP A A G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_033512.2 -1 validated p.Y303H 1.000 138 0% 155 24.5% 3 0% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_NAP RNF139 11236 genome.wustl.edu 37 8 125498512 125498512 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_007218.3 +1 reviewed p.V208I 1.000 349 0% 453 23% 39 23% benign(0.07) tolerated(0.65) neutral(0.008) NULL ADCY8 114 genome.wustl.edu 37 8 131826458 131826458 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001115.2 -1 reviewed p.R924C 1.000 288 0.7% 391 24% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL NDRG1 10397 genome.wustl.edu 37 8 134274327 134274327 + Missense_Mutation SNP G G T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001135242.1 -1 reviewed p.P97T 1.000 110 0% 111 23.4% 259 28.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ndr,superfamily_alpha/beta-Hydrolases ZFAT 57623 genome.wustl.edu 37 8 135622827 135622827 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_020863.3 -1 reviewed p.R174W 0.255 598 0.2% 820 44.8% 2 50% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL FAM135B 51059 genome.wustl.edu 37 8 139165152 139165152 + Missense_Mutation SNP T T A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_015912.3 -1 validated p.Q522H 0.000 232 0% 282 50% 0 - possibly_damaging(0.852) deleterious(0.05) deleterious(0.673) NULL LOC100288108 100288108 genome.wustl.edu 37 8 140715011 140715011 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea XM_002342878.1 +1 model p.A385T 0.997 84 0% 99 27.3% 0 - - - - NULL TRAPPC9 83696 genome.wustl.edu 37 8 141468654 141468654 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_031466.5 -1 reviewed p.A4T 0.001 6 0.000 9 0.556 0 - unknown(0) - - NULL CYP11B1 1584 genome.wustl.edu 37 8 143956528 143956528 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_000497.3 -1 reviewed p.A415T 0.358 130 0% 161 48.4% 0 - benign(0.004) tolerated(0.54) neutral(0.007) HMMPfam_p450,superfamily_Cytochrome_P450 CYP11B2 1585 genome.wustl.edu 37 8 143994702 143994702 + Missense_Mutation SNP G G A rs78354466 TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_000498.3 -1 reviewed p.R374W 1.000 20 0% 51 31.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_p450,superfamily_Cytochrome P450 GPIHBP1 338328 genome.wustl.edu 37 8 144295772 144295772 + Missense_Mutation SNP A A G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_178172.3 +1 validated p.E43G 0.017 159 0% 297 56.2% 0 - possibly_damaging(0.763) deleterious(0.04) deleterious(0.632) NULL NAPRT1 93100 genome.wustl.edu 37 8 144657499 144657499 + Silent SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_145201.4 -1 validated p.D436 0.333 69 0% 70 25.7% 171 21.6% - - - NULL EEF1D 1936 genome.wustl.edu 37 8 144662283 144662283 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001130053.1 -1 reviewed p.V602M 1.000 91 0% 112 46.4% 1106 44.3% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_EF1_GNE,superfamily_eEF-1beta-like PLEC 5339 genome.wustl.edu 37 8 145024638 145024638 + Silent SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_201380.2 -1 reviewed p.I79 0.325 52 1.9% 65 32.3% 1 0% - - - HMMPfam_S10_plectin TYRP1 7306 genome.wustl.edu 37 9 12695618 12695618 + Silent SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_000550.2 +1 reviewed p.T163 0.997 220 0% 281 30.2% 3 66.6% - - - superfamily_Di-copper_centre TYRP1 7306 genome.wustl.edu 37 9 12702411 12702414 + Frame_Shift_Del DEL ACAA ACAA - novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 ACAA ACAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_000550.2 +1 reviewed p.N353fs 1.000:1.000:0.997:0.999 - - - - - - - - - HMMPfam_Tyrosinase,superfamily_Di-copper_centre C9orf93 203238 genome.wustl.edu 37 9 15657181 15657181 + Silent SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_173550.2 +1 predicted p.A293 0.997 190 0% 261 19.2% 0 - - - - NULL DENND4C 55667 genome.wustl.edu 37 9 19324431 19324431 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_017925.4 +1 provisional p.R391C 1.000 312 0.3% 345 24.3% 4 25% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_dDENN,HMMSmart_SM00801 C9orf82 79886 genome.wustl.edu 37 9 26886120 26886120 + Missense_Mutation SNP T T A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_024828.3 -1 validated p.I191F 1.000 174 0% 178 20.2% 13 30.7% possibly_damaging(0.671) deleterious(0.03) deleterious(0.603) NULL ACO1 48 genome.wustl.edu 37 9 32419047 32419047 + Missense_Mutation SNP A A G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_002197.2 +1 reviewed p.I224V 1.000 171 0% 236 52.5% 34 52.9% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_Aconitase,superfamily_Aconitase iron-sulfur domain ACO1 48 genome.wustl.edu 37 9 32425989 32425989 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_002197.2 +1 reviewed p.G448R 1.000 200 0% 250 12% 52 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Aconitase,superfamily_Aconitase iron-sulfur domain DDX58 23586 genome.wustl.edu 37 9 32493856 32493856 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_014314.3 -1 reviewed p.R109H 0.971 254 0% 270 43.7% 7 28.5% probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL TAF1L 138474 genome.wustl.edu 37 9 32633755 32633755 + Missense_Mutation SNP A A G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_153809.2 -1 provisional p.I608T 0.999 510 0% 453 26.5% 0 - probably_damaging(0.983) deleterious(0) deleterious(0.873) NULL BAG1 573 genome.wustl.edu 37 9 33264453 33264453 + Missense_Mutation SNP T T C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_004323.5 -1 reviewed p.K74E 0.999 44 0% 33 30.3% 31 48.3% benign(0.224) tolerated(0.06) neutral(0.345) NULL NFX1 4799 genome.wustl.edu 37 9 33344086 33344086 + Silent SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_002504.3 +1 reviewed p.C748 1.000 305 0% 292 29.5% 27 66.6% - - - NULL DCAF12 25853 genome.wustl.edu 37 9 34093317 34093317 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_015397.3 -1 reviewed p.V331I 0.959 183 0% 190 30.5% 58 37.9% benign(0) tolerated(1) - HMMSmart_WD40 POLR1E 64425 genome.wustl.edu 37 9 37486061 37486061 + Missense_Mutation SNP T T C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_022490.1 +1 provisional p.L6S 0.981 100 0% 97 15.5% 7 28.5% benign(0.079) deleterious(0.03) neutral(0.370) NULL TMEM2 23670 genome.wustl.edu 37 9 74340621 74340621 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_013390.2 -1 validated p.A685V 1.000 214 0% 196 30.1% 8 25% benign(0.029) tolerated(0.45) neutral(0.013) superfamily_Pectin lyase-like GDA 9615 genome.wustl.edu 37 9 74817504 74817504 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_004293.3 +1 validated p.G77E 1.000 245 0.4% 224 29% 4 75% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Amidohydro_1,superfamily_Metallo-dependent hydrolases FRMD3 257019 genome.wustl.edu 37 9 85863110 85863110 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_174938.4 -1 validated p.R506H 0.354 199 0% 143 32.2% 0 - benign(0.32) tolerated(0.08) neutral(0.400) NULL HNRNPK 3190 genome.wustl.edu 37 9 86591916 86591916 + Silent SNP A A G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_002140.3 -1 reviewed p.R69 0.999 366 0% 308 37.3% 369 43.9% - - - HMMSmart_SM00322,HMMPfam_KH_1,superfamily_Eukaryotic type KH-domain (KH-domain type I) DAPK1 1612 genome.wustl.edu 37 9 90219898 90219898 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_004938.2 +1 reviewed p.R31H 0.999 71 0% 45 64.4% 2 50% possibly_damaging(0.904) deleterious(0.02) deleterious(0.742) HMMSmart_S_TKc,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase SPIN1 10927 genome.wustl.edu 37 9 91090188 91090188 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_006717.2 +1 validated p.S262F 1.000 226 0% 170 45.9% 13 69.2% benign(0.019) deleterious(0) neutral(0.446) NULL OMD 4958 genome.wustl.edu 37 9 95179731 95179731 + Missense_Mutation SNP T T C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_005014.2 -1 validated p.D37G 0.905 265 0% 167 41.3% 0 - benign(0.026) tolerated(0.21) neutral(0.045) superfamily_L domain-like SVEP1 79987 genome.wustl.edu 37 9 113169275 113169275 + Missense_Mutation SNP T T C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_153366.3 -1 validated p.R2869G 0.003 59 0% 47 40.4% 7 0% benign(0.078) tolerated(0.33) neutral(0.029) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain ASTN2 23245 genome.wustl.edu 37 9 119413952 119413952 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_198187.3 -1 reviewed p.R976H 1.000 82 0% 64 46.9% 3 100% benign(0.003) deleterious(0.04) neutral(0.349) HMMSmart_SM00457 CNTRL 11064 genome.wustl.edu 37 9 123911032 123911032 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_007018.4 +1 reviewed p.R1181H 0.000 204 0% 154 51.3% 3 100% benign(0.001) tolerated(0.25) neutral(0.037) NULL PSMB7 5695 genome.wustl.edu 37 9 127115882 127115882 + Frame_Shift_Del DEL A A - novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_002799.2 -1 reviewed p.S277fs 1.000 - - - - - - - - - NULL TOR2A 27433 genome.wustl.edu 37 9 130494961 130494961 + Silent SNP A A G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001085347.1 -1 validated p.G201 0.575 37 0% 15 53.3% 23 86.9% - - - HMMSmart_SM00382,HMMPfam_Torsin,superfamily_P-loop containing nucleoside triphosphate hydrolases AK1 203 genome.wustl.edu 37 9 130635089 130635089 + Silent SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_000476.2 -1 reviewed p.V29 0.957 91 0% 49 49% 66 90.9% - - - HMMPfam_ADK,superfamily_P-loop containing nucleoside triphosphate hydrolases ST6GALNAC6 30815 genome.wustl.edu 37 9 130653016 130653016 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_013443.3 -1 provisional p.R202* 1.000 65 0% 30 50% 7 14.2% - - - HMMPfam_Glyco_transf_29 DOLK 22845 genome.wustl.edu 37 9 131709537 131709537 + Silent SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_014908.3 -1 reviewed p.L16 0.182 22 0% 16 43.8% 15 86.6% - - - NULL NUP188 23511 genome.wustl.edu 37 9 131768559 131768559 + Missense_Mutation SNP T T A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_015354.1 +1 validated p.L1662H 1.000 108 0% 80 43.8% 64 75% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CACFD1 11094 genome.wustl.edu 37 9 136330467 136330467 + Missense_Mutation SNP T T C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_017586.2 +1 validated p.L73P 1.000 169 0% 98 52% 27 88.8% probably_damaging(0.991) deleterious(0.03) deleterious(0.808) HMMPfam_Cg6151-P KCNT1 57582 genome.wustl.edu 37 9 138649062 138649062 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_020822.2 +1 validated p.P221S 1.000 94 0% 44 47.7% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL CLIC3 9022 genome.wustl.edu 37 9 139889256 139889256 + Silent SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_004669.2 -1 reviewed p.P196 0.001 29 0% 20 45% 11 63.6% - - - superfamily_GST_C_like SLC34A3 142680 genome.wustl.edu 37 9 140127103 140127105 + In_Frame_Del DEL CTT CTT - novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_080877.2 +1 reviewed p.F86in_frame_del 1.000:0.994:1.000 - - - - - - - - - HMMPfam_Na_Pi_cotrans NELF 26012 genome.wustl.edu 37 9 140347301 140347301 + Missense_Mutation SNP C C A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea ENST00000371482 -1 known p.G4W 0.000 88 0% 50 46% 1 100% unknown(0) - - NULL ZMYND11 10771 genome.wustl.edu 37 10 294847 294847 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_006624.4 +1 reviewed p.R462H 1.000 189 0% 246 27.6% 27 44.4% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PITRM1 10531 genome.wustl.edu 37 10 3189413 3189413 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_014889.2 -1 validated p.M755I 0.995 380 0% 375 30.9% 174 44.8% benign(0.177) tolerated(0.46) neutral(0.029) superfamily_LuxS/MPP-like metallohydrolase SEC61A2 55176 genome.wustl.edu 37 10 12211361 12211361 + RNA SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NR_024576.1 +1 reviewed NULL 0.000 169 0% 223 30.9% 1 100% - - - - FRMD4A 55691 genome.wustl.edu 37 10 13702499 13702499 + Missense_Mutation SNP A A G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_018027.3 -1 validated p.L572P 1.000 202 0% 250 27.6% 8 25% probably_damaging(0.986) deleterious(0.04) deleterious(0.783) NULL RPP38 10557 genome.wustl.edu 37 10 15145354 15145354 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001097590.1 +1 validated p.R14H 0.617 108 0% 110 30% 20 50% probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL FAM171A1 221061 genome.wustl.edu 37 10 15255015 15255015 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001010924.1 -1 validated p.E858K 0.954 273 0.4% 233 28.8% 25 44% benign(0.01) tolerated(0.16) neutral(0.060) HMMPfam_UPF0560 CACNB2 783 genome.wustl.edu 37 10 18823074 18823074 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_201596.2 +1 reviewed p.A375V 1.000 346 0% 347 30.8% 0 - probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMPfam_Ca_channel_B,HMMSmart_SM00072,superfamily_P-loop containing nucleoside triphosphate hydrolases NEBL 10529 genome.wustl.edu 37 10 21074740 21074740 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_006393.2 -1 reviewed p.G994D 1.000 157 0% 162 30.2% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain C10orf114 399726 genome.wustl.edu 37 10 21785689 21785689 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001010911.2 -1 validated p.R19C 0.907 48 0% 33 27.3% 1 0% possibly_damaging(0.817) - - NULL KIAA1217 56243 genome.wustl.edu 37 10 24820877 24820877 + Silent SNP A A G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_019590.3 +1 validated p.S1067 0.029 61 0% 63 38.1% 34 35.2% - - - NULL ARMC4 55130 genome.wustl.edu 37 10 28229593 28229593 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_018076.2 -1 validated p.R629C 0.999 158 0% 160 30.6% 0 - probably_damaging(0.998) tolerated(0.19) deleterious(0.524) HMMPfam_Arm,HMMSmart_SM00185,superfamily_ARM repeat PARD3 56288 genome.wustl.edu 37 10 34985325 34985325 + Missense_Mutation SNP A A G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_019619.3 -1 validated p.V48A 1.000 383 0% 383 28.7% 7 57.1% probably_damaging(0.979) deleterious(0.02) deleterious(0.805) NULL NAMPTL 646309 genome.wustl.edu 37 10 36812542 36812542 + Silent SNP T T C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea ENST00000440465 -1 known p.L207 0.996 228 0.4% 257 26.8% 0 - - - - HMMPfam_NAPRTase ANKRD30A 91074 genome.wustl.edu 37 10 37431053 37431053 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_052997.2 +1 validated p.A354T 0.154 291 0% 309 32.4% 0 - possibly_damaging(0.888) deleterious(0.01) deleterious(0.753) NULL ZNF248 57209 genome.wustl.edu 37 10 38121604 38121604 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_021045.1 -1 provisional p.A227T 0.000 156 0% 159 31.4% 0 - benign(0.002) tolerated(0.14) neutral(0.249) NULL HNRNPF 3185 genome.wustl.edu 37 10 43882343 43882343 + Silent SNP T T C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001098204.1 -1 reviewed p.E330 1.000 181 0% 199 36.2% 211 49.7% - - - HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD ARHGAP22 58504 genome.wustl.edu 37 10 49667828 49667828 + Silent SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_021226.2 -1 validated p.R186 0.005 81 0% 67 34.3% 1 0% - - - HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP WDFY4 57705 genome.wustl.edu 37 10 49983821 49983822 + Frame_Shift_Del DEL CA CA - novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 CA CA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_020945.1 +1 validated p.H947fs 0.000:0.000 - - - - - - - - - NULL ANK3 288 genome.wustl.edu 37 10 62038606 62038606 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_020987.2 -1 reviewed p.A114T 1.000 431 0.5% 403 33.3% 3 33.3% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK CTNNA3 29119 genome.wustl.edu 37 10 68526158 68526158 + Missense_Mutation SNP A A G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001127384.1 -1 validated p.I382T 1.000 376 0% 318 29.6% 0 - possibly_damaging(0.857) deleterious(0.02) deleterious(0.714) HMMPfam_Vinculin,superfamily_alpha-catenin/vinculin HERC4 26091 genome.wustl.edu 37 10 69714797 69714797 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_022079.2 -1 validated p.R714C 1.000 561 0% 481 29.1% 21 28.5% probably_damaging(0.971) deleterious(0.03) deleterious(0.777) superfamily_Hect E3 ligase catalytic domain UNC5B 219699 genome.wustl.edu 37 10 73047433 73047433 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_170744.3 +1 validated p.R271Q 1.000 49 0% 33 30.3% 5 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat SLC29A3 55315 genome.wustl.edu 37 10 73082690 73082690 + Missense_Mutation SNP T T C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea ENST00000373189 +1 known p.L60P 1.000 72 0% 76 32.9% 8 62.5% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL CAMK2G 818 genome.wustl.edu 37 10 75606989 75606989 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_172171.1 -1 reviewed p.W271* 1.000 419 0% 436 32.3% 5 0% - - - HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase PTEN 5728 genome.wustl.edu 37 10 89711908 89711910 + In_Frame_Del DEL TAT TAT - novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 TAT TAT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea ENST00000371953 +1 known p.Y178in_frame_del 1.000:1.000:1.000 - - - - - - - - - HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II PTEN 5728 genome.wustl.edu 37 10 89711988 89711989 + Frame_Shift_Del DEL TA TA - novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 TA TA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea ENST00000371953 +1 known p.I203fs 0.999:1.000 - - - - - - - - - superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_PTEN_C2 KIF20B 9585 genome.wustl.edu 37 10 91492736 91492736 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_016195.2 +1 validated p.S783N 0.000 118 0% 131 26% 6 66.6% benign(0) deleterious(0.01) neutral(0.406) NULL ZNF518A 9849 genome.wustl.edu 37 10 97918714 97918714 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea ENST00000371192 +1 known p.P879S 0.308 153 0% 125 25.6% 6 33.3% - - - NULL PSD 5662 genome.wustl.edu 37 10 104173622 104173622 + Missense_Mutation SNP T T G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_002779.3 -1 provisional p.E486A 0.994 54 0% 69 29% 0 - benign(0.41) tolerated(0.08) neutral(0.432) NULL SFXN2 118980 genome.wustl.edu 37 10 104486763 104486763 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_178858.4 +1 validated p.G61S 1.000 77 0% 71 36.6% 11 36.3% possibly_damaging(0.864) tolerated(0.19) neutral(0.384) HMMPfam_Mtc TAF5 6877 genome.wustl.edu 37 10 105139711 105139711 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_006951.3 +1 reviewed p.R450* 1.000 212 0% 236 30.9% 0 - - - - superfamily_WD40 repeat-like SLK 9748 genome.wustl.edu 37 10 105762837 105762837 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_014720.2 +1 provisional p.P634L 0.001 139 0% 225 33.3% 12 41.6% benign(0) tolerated(0.36) neutral(0.020) superfamily_Protein kinase-like (PK-like) SLK 9748 genome.wustl.edu 37 10 105779663 105779663 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_014720.2 +1 provisional p.R1102C 1.000 135 0% 181 27.6% 20 30% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Protein kinase-like (PK-like) NHLRC2 374354 genome.wustl.edu 37 10 115668284 115668284 + Missense_Mutation SNP T T C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_198514.2 +1 provisional p.Y724H 0.036 179 0% 177 31.6% 13 15.3% benign(0.005) tolerated(0.45) neutral(0.012) NULL SLC18A2 6571 genome.wustl.edu 37 10 119003744 119003744 + Silent SNP C C T rs182578089 by1000genomes TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_003054.4 +1 reviewed p.N128 0.507 125 0.8% 137 29.2% 0 - - - - HMMPfam_MFS_1,superfamily_MFS general substrate transporter HMX3 340784 genome.wustl.edu 37 10 124896852 124896854 + In_Frame_Del DEL AAG AAG - novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 AAG AAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001105574.1 +1 validated p.K229in_frame_del 1.000:1.000:1.000 - - - - - - - - - HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like CHST15 51363 genome.wustl.edu 37 10 125780753 125780755 + In_Frame_Del DEL GGG GGG - rs5788647 TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 GGG GGG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea ENST00000421115 -1 known p.P455in_frame_del 0.985:0.982:0.979 - - - - - - - - - NULL ODF3 113746 genome.wustl.edu 37 11 197684 197684 + Missense_Mutation SNP G G T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_053280.3 +1 provisional p.R78M 0.996 79 0% 56 28.6% 0 - possibly_damaging(0.928) deleterious(0.03) deleterious(0.740) NULL MUC5B 727897 genome.wustl.edu 37 11 1263791 1263791 + Missense_Mutation SNP C C T rs141754305 by1000genomes TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_002458.1 +1 validated p.T1897M 0.000 178 0% 218 37.2% 2 100% probably_damaging(0.957) - - NULL IGF2-AS1 51214 genome.wustl.edu 37 11 2167572 2167572 + Silent SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea ENST00000381361 +1 known p.P134 0.000 112 0.9% 82 25.6% 0 - - - - NULL TSPAN32 10077 genome.wustl.edu 37 11 2335733 2335734 + Frame_Shift_Del DEL AA AA - novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 AA AA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_139022.2 +1 reviewed p.K159fs 0.151:0.002 - - - - - - - - - superfamily_Tetraspanin,HMMPfam_Tetraspannin CARS 833 genome.wustl.edu 37 11 3060449 3060449 + Missense_Mutation SNP A A G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001014437.1 -1 reviewed p.L209S 1.000 100 0% 103 29.1% 31 32.2% benign(0.037) tolerated(0.07) neutral(0.321) HMMPfam_tRNA-synt_1e,superfamily_SSF52374 NUP98 4928 genome.wustl.edu 37 11 3726449 3726449 + Silent SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea ENST00000429801 -1 known p.V77I 0.999 473 0.2% 563 32.3% 11 9% - - - NULL OR51S1 119692 genome.wustl.edu 37 11 4869858 4869858 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001004758.1 -1 provisional p.R194H 0.000 77 0% 98 53.1% 0 - benign(0.064) tolerated(0.12) neutral(0.265) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR51T1 401665 genome.wustl.edu 37 11 4903499 4903499 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001004759.1 +1 provisional p.R151C 1.000 427 0% 415 29.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like C11orf42 160298 genome.wustl.edu 37 11 6231104 6231104 + Missense_Mutation SNP A A G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_173525.2 +1 validated p.N33D 0.982 200 0% 185 31.4% 0 - benign(0.253) tolerated(0.32) neutral(0.050) NULL TRIM3 10612 genome.wustl.edu 37 11 6472143 6472143 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_006458.2 -1 reviewed p.A617T 0.999 68 0% 45 44.4% 25 40% benign(0) tolerated(0.91) - superfamily_NHL repeat DNHD1 144132 genome.wustl.edu 37 11 6566210 6566210 + Silent SNP C C T rs189772244 by1000genomes TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_144666.2 +1 provisional p.S1347 0.003 207 0.5% 173 23.7% 0 - - - - HMMPfam_DHC_N2 RRP8 23378 genome.wustl.edu 37 11 6623129 6623129 + Missense_Mutation SNP T T C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_015324.2 -1 provisional p.H139R 0.014 574 0% 603 26.9% 14 28.5% benign(0.006) tolerated(0.18) neutral(0.056) NULL ILK 3611 genome.wustl.edu 37 11 6631462 6631462 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001014794.1 +1 reviewed p.R388W 0.998 170 0.6% 205 26.3% 103 53.3% probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_Pkinase_Tyr,superfamily_Kinase_like TPP1 1200 genome.wustl.edu 37 11 6636527 6636527 + Missense_Mutation SNP G G T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_000391.3 -1 reviewed p.P434T 0.586 371 0.3% 359 25.6% 106 33% benign(0) tolerated(0.52) neutral(0.009) superfamily_Subtilisin-like TPP1 1200 genome.wustl.edu 37 11 6638353 6638353 + Silent SNP T T C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_000391.3 -1 reviewed p.S180 0.996 121 0% 124 26.6% 48 25% - - - superfamily_Protease propeptides/inhibitors NLRP14 338323 genome.wustl.edu 37 11 7065016 7065016 + Missense_Mutation SNP T T A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_176822.3 +1 reviewed p.Y587N 0.951 314 0% 360 27.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL SBF2 81846 genome.wustl.edu 37 11 9805971 9805971 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_030962.3 -1 reviewed p.T1749I 0.997 280 0% 239 22.6% 13 61.5% benign(0.002) tolerated(0.42) neutral(0.014) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like PIK3C2A 5286 genome.wustl.edu 37 11 17112906 17112906 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_002645.2 -1 validated p.T1618M 1.000 984 0.1% 1048 30.2% 18 61.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) SPTY2D1 144108 genome.wustl.edu 37 11 18638470 18638470 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_194285.2 -1 validated p.A43T 1.000 577 0% 519 25.2% 0 - possibly_damaging(0.645) deleterious(0) deleterious(0.670) NULL NAV2 89797 genome.wustl.edu 37 11 19955428 19955428 + Silent SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_182964.5 +1 validated p.G546 0.973 74 0% 96 31.2% 0 - - - - NULL KIF18A 81930 genome.wustl.edu 37 11 28056947 28056947 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_031217.3 -1 validated p.R831W 1.000 349 0% 282 25.5% 15 33.3% benign(0.141) tolerated(0.27) neutral(0.045) NULL CD44 960 genome.wustl.edu 37 11 35227669 35227669 + Silent SNP T T C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea ENST00000428726 +1 known p.L409P 0.084 256 0.4% 270 30.4% 83 34.9% - - - NULL LRRC4C 57689 genome.wustl.edu 37 11 40136965 40136965 + Missense_Mutation SNP A A G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_020929.1 -1 validated p.L293P 1.000 172 0% 157 24.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_L domain-like AMBRA1 55626 genome.wustl.edu 37 11 46419046 46419046 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_017749.2 -1 validated p.S1194N 0.984 193 0.5% 202 31.7% 34 47% benign(0) tolerated(1) - NULL HARBI1 283254 genome.wustl.edu 37 11 46625381 46625381 + Missense_Mutation SNP T T C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_173811.3 -1 validated p.N250S 0.999 265 0% 291 32.3% 13 46.1% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL ENSG00000205035 0 genome.wustl.edu 37 11 49597987 49597987 + Missense_Mutation SNP T T C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea ENST00000357667 +1 known p.Y63H 1.000 254 0.8% 227 29.1% 0 - - - - superfamily_Periplasmic binding protein-like I OR7E5P 219445 genome.wustl.edu 37 11 55746928 55746928 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea ENST00000399170 -1 known p.R177C 0.000 418 0% 342 29.8% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like MS4A10 341116 genome.wustl.edu 37 11 60561564 60561564 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_206893.3 +1 validated p.Y160* 0.856 222 0% 168 32.7% 0 - - - - HMMPfam_CD20 FEN1 2237 genome.wustl.edu 37 11 61563474 61563474 + Missense_Mutation SNP A A C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_004111.4 +1 reviewed p.Q214P 1.000 112 0% 92 28.3% 52 34.6% benign(0.104) deleterious(0.01) neutral(0.414) HMMPfam_XPG_I,HMMSmart_SM00484,superfamily_PIN domain-like AHNAK 79026 genome.wustl.edu 37 11 62296858 62296858 + Silent SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001620.1 -1 validated p.K1677 0.993 734 0% 771 33.6% 8 37.5% - - - NULL TAF6L 10629 genome.wustl.edu 37 11 62553790 62553790 + Missense_Mutation SNP T T C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_006473.2 +1 reviewed p.V340A 1.000 222 0.5% 242 28.1% 29 37.9% probably_damaging(0.991) tolerated(0.14) deleterious(0.694) NULL CHRM1 1128 genome.wustl.edu 37 11 62677638 62677638 + Missense_Mutation SNP T T C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_000738.2 -1 reviewed p.Q312R 0.575 63 0% 75 36% 0 - benign(0) tolerated(0.4) neutral(0.016) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OTUB1 55611 genome.wustl.edu 37 11 63756170 63756170 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea ENST00000428192 +1 known p.R30Q 0.028 56 0% 31 22.6% 155 42.5% unknown(0) - - NULL NRXN2 9379 genome.wustl.edu 37 11 64418868 64418868 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_015080.2 -1 reviewed p.S926N 0.996 104 0% 128 42.2% 1 0% possibly_damaging(0.727) tolerated(0.38) neutral(0.282) superfamily_Concanavalin A-like lectins/glucanases TIGD3 220359 genome.wustl.edu 37 11 65124181 65124181 + Missense_Mutation SNP T T C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_145719.2 +1 reviewed p.V301A 0.996 16 0% 12 41.7% 1 0% benign(0.099) deleterious(0.01) neutral(0.413) HMMPfam_DDE FRMD8 83786 genome.wustl.edu 37 11 65168249 65168251 + In_Frame_Del DEL GAG GAG - novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 GAG GAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_031904.3 +1 validated p.E331in_frame_del 0.999:1.000:0.998 - - - - - - - - - NULL EHBP1L1 254102 genome.wustl.edu 37 11 65349805 65349805 + Silent SNP C C A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001099409.1 +1 validated p.S554 0.000 42 0% 52 42.3% 0 - - - - NULL CATSPER1 117144 genome.wustl.edu 37 11 65792951 65792951 + Silent SNP A A G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_053054.3 -1 reviewed p.H300 0.000 796 0% 984 30.3% 0 - - - - superfamily_Voltage-gated potassium channels BBS1 582 genome.wustl.edu 37 11 66298490 66298492 + In_Frame_Del DEL CTT CTT - novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_024649.4 +1 reviewed p.F535in_frame_del 1.000:1.000:1.000 - - - - - - - - - NULL PPFIA1 8500 genome.wustl.edu 37 11 70118531 70118531 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_003626.2 +1 reviewed p.A85T 1.000 105 0% 114 28.1% 7 14.2% benign(0.333) tolerated(1) neutral(0.104) NULL NUMA1 4926 genome.wustl.edu 37 11 71727223 71727223 + Silent SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_006185.2 -1 validated p.E442 0.393 130 0% 119 32.8% 52 40.3% - - - NULL DGAT2 84649 genome.wustl.edu 37 11 75509344 75509344 + Silent SNP C C A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_032564.3 +1 validated p.S294 1.000 134 0% 149 32.9% 1 0% - - - HMMPfam_DAGAT WNT11 7481 genome.wustl.edu 37 11 75898115 75898115 + Silent SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_004626.2 -1 reviewed p.C353 1.000 72 0% 69 36.2% 1 100% - - - HMMPfam_wnt,HMMSmart_WNT1 CAPN5 726 genome.wustl.edu 37 11 76804747 76804747 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_004055.4 +1 reviewed p.R62H 1.000 62 0% 47 29.8% 3 33.3% benign(0.001) tolerated(0.64) neutral(0.003) HMMPfam_Peptidase_C2,HMMSmart_CysPc,superfamily_SSF54001 GAB2 9846 genome.wustl.edu 37 11 77991782 77991782 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_080491.2 -1 reviewed p.Q81* 1.000 325 0% 314 34.1% 1 100% - - - HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like FAT3 120114 genome.wustl.edu 37 11 92533622 92533622 + Missense_Mutation SNP G G T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001008781.2 +1 validated p.Q2481H 1.000 259 0% 259 31.7% 0 - probably_damaging(0.991) tolerated(0.13) deleterious(0.697) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like KIAA1731 85459 genome.wustl.edu 37 11 93463415 93463415 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_033395.1 +1 validated p.R2596* 1.000 377 0% 366 31.4% 22 50% - - - NULL PGR 5241 genome.wustl.edu 37 11 100996755 100996757 + In_Frame_Del DEL AAG AAG - novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 AAG AAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_000926.4 -1 reviewed p.F591in_frame_del 1.000:1.000:1.000 - - - - - - - - - HMMPfam_zf-C4,HMMSmart_SM00399,PatternScan_NUCLEAR_REC_DBD_1,superfamily_Glucocorticoid receptor-like (DNA-binding domain) ATM 472 genome.wustl.edu 37 11 108115662 108115662 + Silent SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_000051.3 +1 reviewed p.R270 1.000 264 0% 330 31.5% 2 50% - - - superfamily_ARM repeat SIK2 23235 genome.wustl.edu 37 11 111487007 111487007 + Missense_Mutation SNP T T C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_015191.1 +1 validated p.V59A 1.000 321 0% 383 24.3% 6 33.3% possibly_damaging(0.95) tolerated(0.34) neutral(0.417) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase APOA5 116519 genome.wustl.edu 37 11 116661546 116661546 + Silent SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_052968.4 -1 reviewed p.T133 0.036 27 0% 22 31.8% 0 - - - - HMMPfam_Apolipoprotein,superfamily_SSF47162 ROBO4 54538 genome.wustl.edu 37 11 124761263 124761263 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_019055.5 -1 validated p.R627H 0.004 187 0% 166 25.3% 8 0% probably_damaging(0.999) tolerated(0.07) deleterious(0.809) NULL PKNOX2 63876 genome.wustl.edu 37 11 125281735 125281735 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_022062.2 +1 validated p.R304C 1.000 321 0% 259 30.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like CDON 50937 genome.wustl.edu 37 11 125873938 125873938 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_016952.4 -1 validated p.H629Y 1.000 145 0% 130 33.1% 0 - benign(0.109) tolerated(1) neutral(0.009) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III SRPR 6734 genome.wustl.edu 37 11 126133917 126133917 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_003139.3 -1 reviewed p.T604M 1.000 148 0% 155 26.5% 247 38.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SRP54,superfamily_SSF52540 ETS1 2113 genome.wustl.edu 37 11 128350152 128350152 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001143820.1 -1 validated p.R353W 1.000 189 0% 152 33.6% 14 0% probably_damaging(0.972) deleterious(0.01) deleterious(0.820) superfamily_SSF46785 TULP3 7289 genome.wustl.edu 37 12 3031532 3031532 + Missense_Mutation SNP T T A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_003324.4 +1 reviewed p.S120T 0.005 172 0% 172 32% 11 36.3% probably_damaging(0.963) tolerated(0.16) neutral(0.465) NULL CD9 928 genome.wustl.edu 37 12 6346982 6346982 + Silent SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001769.2 +1 reviewed p.R225 0.856 367 0% 402 36.3% 911 41.1% - - - NULL TPI1 7167 genome.wustl.edu 37 12 6978336 6978336 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_000365.5 +1 reviewed p.E105K 1.000 190 0% 302 30.1% 681 46.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TIM,superfamily_Triosephosphate isomerase (TIM) SPSB2 84727 genome.wustl.edu 37 12 6980375 6980375 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_032641.3 -1 reviewed p.R258H 0.998 98 0% 103 35.9% 20 45% probably_damaging(0.983) tolerated(0.1) deleterious(0.716) HMMPfam_SOCS_box ATN1 1822 genome.wustl.edu 37 12 7047954 7047954 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001007026.1 +1 reviewed p.R943H 0.988 48 0% 20 35% 131 43.5% probably_damaging(0.995) tolerated(0.06) deleterious(0.780) HMMPfam_Atrophin-1 PEX5 5830 genome.wustl.edu 37 12 7343032 7343032 + Missense_Mutation SNP T T C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001131023.1 +1 reviewed p.L20P 1.000 115 0% 129 24% 7 42.8% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PRH1 5554 genome.wustl.edu 37 12 11035136 11035138 + In_Frame_Del DEL GAG GAG - novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 GAG GAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea ENST00000428168 -1 known p.P87in_frame_del 0.000:0.000:0.002 - - - - - - - - - NULL ATF7IP 55729 genome.wustl.edu 37 12 14578136 14578137 + Frame_Shift_Del DEL TA TA - novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 TA TA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_018179.3 +1 validated p.M430fs 0.973:1.000 - - - - - - - - - NULL PIK3C2G 5288 genome.wustl.edu 37 12 18658288 18658288 + Silent SNP A A G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_004570.4 +1 reviewed p.V1031 1.000 631 0% 612 28.9% 0 - - - - HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,superfamily_Protein kinase-like (PK-like),PatternScan_PI3_4_KINASE_2 BCAT1 586 genome.wustl.edu 37 12 24989523 24989525 + In_Frame_Del DEL TTC TTC - novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 TTC TTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea 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 TSPAN11 441631 genome.wustl.edu 37 12 31106997 31106999 + In_Frame_Del DEL CTT CTT - novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001080509.2 +1 validated p.F27in_frame_del 1.000:1.000:1.000 - - - - - - - - - HMMPfam_Tetraspannin ALG10B 144245 genome.wustl.edu 37 12 38714512 38714512 + Silent SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001013620.3 +1 validated p.L307 0.943 753 0% 668 29.8% 6 66.6% - - - HMMPfam_DIE2_ALG10 ABCD2 225 genome.wustl.edu 37 12 39998580 39998580 + Silent SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_005164.3 -1 reviewed p.D463 0.987 373 0% 314 30.6% 0 - - - - NULL SLC38A2 54407 genome.wustl.edu 37 12 46756865 46756867 + In_Frame_Del DEL AGA AGA - novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 AGA AGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_018976.4 -1 validated p.L373in_frame_del 1.000:1.000:0.894 - - - - - - - - - HMMPfam_Aa_trans COL2A1 1280 genome.wustl.edu 37 12 48370615 48370615 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001844.4 -1 reviewed p.Q1139* 1.000 22 0% 31 19.4% 84 1.1% - - - HMMPfam_Collagen KRT85 3891 genome.wustl.edu 37 12 52756054 52756054 + Silent SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_002283.3 -1 reviewed p.L427 1.000 179 0% 159 31.4% 0 - - - - HMMPfam_Filament,PatternScan_IF RARG 5916 genome.wustl.edu 37 12 53608385 53608385 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_000966.4 -1 validated p.R161* 1.000 253 0% 293 31.4% 8 0% - - - HMMPfam_zf-C4,superfamily_Nuclear receptor ligand-binding domain C12orf10 60314 genome.wustl.edu 37 12 53700052 53700052 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_021640.3 +1 validated p.S238N 1.000 237 0.4% 193 26.4% 100 42% probably_damaging(0.986) deleterious(0.05) deleterious(0.780) HMMPfam_UPF0160 HOXC5 3222 genome.wustl.edu 37 12 54428190 54428190 + Missense_Mutation SNP A A G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_018953.2 +1 reviewed p.N195D 1.000 130 0% 91 28.6% 2 0% possibly_damaging(0.943) deleterious(0.01) deleterious(0.793) HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like,PatternScan_HOMEOBOX_1 GDF11 10220 genome.wustl.edu 37 12 56143386 56143386 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_005811.3 +1 reviewed p.R315Q 1.000 50 0% 62 40.3% 55 40% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TGF_beta,HMMSmart_TGFB,superfamily_SSF57501 OBFC2B 79035 genome.wustl.edu 37 12 56622880 56622880 + Frame_Shift_Del DEL C C - novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_024068.3 +1 validated p.P174fs 0.998 - - - - - - - - - NULL APOF 319 genome.wustl.edu 37 12 56755931 56755933 + In_Frame_Del DEL ATC ATC - novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 ATC ATC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001638.2 -1 reviewed p.M19in_frame_del 0.000:0.000:0.001 - - - - - - - - - NULL SDR9C7 121214 genome.wustl.edu 37 12 57323179 57323179 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_148897.2 -1 reviewed p.R240H 0.000 108 0% 76 27.6% 0 - benign(0.002) tolerated(0.24) neutral(0.037) superfamily_NAD(P)-bd GPR182 11318 genome.wustl.edu 37 12 57389040 57389040 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_007264.3 +1 reviewed p.T16I 0.031 171 0% 151 33.8% 0 - possibly_damaging(0.887) deleterious(0) deleterious(0.791) NULL MBD6 114785 genome.wustl.edu 37 12 57922979 57922979 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_052897.3 +1 validated p.R992C 1.000 92 1.1% 80 21.2% 73 42.4% unknown(0) - - NULL SLC26A10 65012 genome.wustl.edu 37 12 58014821 58014821 + Silent SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea ENST00000440686 +1 known p.R70C 0.891 37 0% 20 25% 1 0% - - - NULL TMEM5 10329 genome.wustl.edu 37 12 64202605 64202605 + Silent SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_014254.1 +1 provisional p.D355 0.933 161 0% 133 27.1% 22 27.2% - - - NULL C12orf56 115749 genome.wustl.edu 37 12 64746807 64746807 + Silent SNP C C T rs147571015 by1000genomes TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001099676.2 -1 validated p.S94 0.222 313 0.3% 308 32.5% 0 - - - - NULL IRAK3 11213 genome.wustl.edu 37 12 66605326 66605326 + Silent SNP A A G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_007199.2 +1 reviewed p.V179 0.746 252 0% 261 34.1% 0 - - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase CPM 1368 genome.wustl.edu 37 12 69279630 69279630 + Missense_Mutation SNP T T C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001005502.2 -1 reviewed p.K67R 0.996 453 0% 389 30.8% 17 5.8% benign(0) tolerated(0.19) neutral(0.050) HMMPfam_Peptidase_M14,HMMSmart_Zn_pept,superfamily_SSF53187 LRRC10 376132 genome.wustl.edu 37 12 70004063 70004063 + Silent SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_201550.2 -1 provisional p.L186 1.000 122 0% 145 25.5% 0 - - - - HMMPfam_LRR_1,superfamily_SSF52058 PTPRB 5787 genome.wustl.edu 37 12 70949046 70949046 + Silent SNP A A G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001109754.1 -1 reviewed p.D1679 0.912 145 0% 184 23.9% 2 0% - - - HMMSmart_SM00060,superfamily_Fibronectin type III OTOGL 283310 genome.wustl.edu 37 12 80613571 80613575 + Frame_Shift_Del DEL TTTTT TTTTT - novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 TTTTT TTTTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea XM_002343203.1 +1 model p.F16fs 0.783:0.235:0.100:0.000:0.000 - - - - - - - - - NULL PPFIA2 8499 genome.wustl.edu 37 12 81769669 81769669 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_003625.2 -1 reviewed p.R346H 1.000 785 0% 793 34.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ATP2B1 490 genome.wustl.edu 37 12 90049509 90049509 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001682.2 -1 reviewed p.S52N 1.000 209 0.5% 214 35.5% 1 0% benign(0.273) tolerated(0.19) neutral(0.079) HMMPfam_Cation_ATPase_N,superfamily_SSF81665 LUM 4060 genome.wustl.edu 37 12 91497991 91497991 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_002345.3 -1 reviewed p.P323L 0.006 291 0% 274 27% 261 0% benign(0.002) tolerated(0.46) neutral(0.012) HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like CLLU1OS 574016 genome.wustl.edu 37 12 92814871 92814871 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001025232.1 -1 provisional p.A74V 0.000 918 0.3% 978 34.4% 2 0% unknown(0) - - NULL NR1H4 9971 genome.wustl.edu 37 12 100955769 100955769 + Silent SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_005123.2 +1 provisional p.L391 1.000 176 0% 195 29.2% 0 - - - - HMMPfam_Hormone_recep,HMMSmart_SM00430,superfamily_Nuclear receptor ligand-binding domain POLR3B 55703 genome.wustl.edu 37 12 106848396 106848396 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_018082.5 +1 validated p.P734S 1.000 340 0.3% 301 33.2% 5 60% possibly_damaging(0.891) deleterious(0.02) deleterious(0.734) HMMPfam_RNA_pol_Rpb2_6,superfamily_beta and beta-prime subunits of DNA dependent RNA-polymerase ASCL4 121549 genome.wustl.edu 37 12 108169124 108169124 + Silent SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_203436.2 +1 validated p.D44 0.229 13 0% 16 31.2% 0 - - - - NULL ACACB 32 genome.wustl.edu 37 12 109696862 109696862 + Missense_Mutation SNP T T A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001093.3 +1 reviewed p.L2149M 0.986 159 0% 146 23.3% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Carboxyl_trans,superfamily_ClpP/crotonase TRPV4 59341 genome.wustl.edu 37 12 110236702 110236702 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_021625.4 -1 reviewed p.S290L 1.000 49 0% 47 36.2% 4 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat TCTN1 79600 genome.wustl.edu 37 12 111080146 111080146 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001082538.2 +1 reviewed p.R428Q 0.767 184 0% 197 34.5% 19 31.5% probably_damaging(1) deleterious(0) deleterious(0.945) NULL HVCN1 84329 genome.wustl.edu 37 12 111088053 111088053 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001040107.1 -1 validated p.R226W 1.000 516 0% 544 23.7% 9 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL C12orf51 283450 genome.wustl.edu 37 12 112681281 112681281 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001109662.2 -1 validated p.R1190W 1.000 94 0% 81 35.8% 2 100% probably_damaging(0.999) - - NULL C12orf51 283450 genome.wustl.edu 37 12 112690234 112690234 + Silent SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea ENST00000311694 -1 known p.A645V 1.000 177 0.6% 190 26.8% 5 60% - - - NULL PLBD2 196463 genome.wustl.edu 37 12 113822039 113822039 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_173542.3 +1 validated p.A363T 1.000 31 0% 41 29.3% 32 31.2% benign(0.009) tolerated(0.4) neutral(0.017) HMMPfam_Phospholip_B KSR2 283455 genome.wustl.edu 37 12 118199259 118199259 + Silent SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_173598.4 -1 validated p.P152 0.918 35 0% 39 33.3% 0 - - - - NULL GCN1L1 10985 genome.wustl.edu 37 12 120602185 120602185 + Silent SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_006836.1 -1 validated p.A601 0.000 97 0% 81 38.3% 6 33.3% - - - superfamily_ARM repeat DNAH10 196385 genome.wustl.edu 37 12 124297859 124297859 + Missense_Mutation SNP A A G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_207437.3 +1 validated p.H980R 1.000 318 0% 294 32.3% 0 - benign(0.009) tolerated(0.43) neutral(0.014) NULL RIMBP2 23504 genome.wustl.edu 37 12 130892334 130892334 + Silent SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_015347.4 -1 validated p.T954 0.000 97 1% 137 30.7% 0 - unknown(0) - - superfamily_SH3-domain LOC100288577 100288577 genome.wustl.edu 37 12 132425907 132425907 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea XM_002343226.1 -1 model p.Q149* 1.000 127 0% 124 34.7% 65 36.9% - - - NULL EP400 57634 genome.wustl.edu 37 12 132496112 132496112 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_015409.3 +1 validated p.R1124H 1.000 437 0% 411 28.7% 4 50% unknown(0) - - HMMPfam_SNF2_N,HMMSmart_DEXDc,superfamily_SSF52540 POLE 5426 genome.wustl.edu 37 12 133250162 133250162 + Missense_Mutation SNP T T C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_006231.2 -1 validated p.Q453R 1.000 39 0% 35 28.6% 4 100% possibly_damaging(0.522) tolerated(0.07) deleterious(0.495) HMMSmart_POLBc,superfamily_RNaseH_fold PARP4 143 genome.wustl.edu 37 13 25005613 25005613 + Missense_Mutation SNP T T C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_006437.3 -1 reviewed p.D1583G 1.000 264 0% 330 29.1% 71 45% probably_damaging(0.99) deleterious(0.02) deleterious(0.825) NULL ATP12A 479 genome.wustl.edu 37 13 25283581 25283581 + Missense_Mutation SNP G G T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001676.5 +1 reviewed p.R858M 0.999 79 0% 58 29.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cation_ATPase_C,superfamily_Calcium ATPase transmembrane domain M FAM123A 219287 genome.wustl.edu 37 13 25744539 25744539 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_152704.2 -1 validated p.A407T 0.016 61 0% 43 32.6% 0 - benign(0.004) tolerated(0.57) neutral(0.006) HMMPfam_WTX NBEA 26960 genome.wustl.edu 37 13 35644985 35644985 + Missense_Mutation SNP G G T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_015678.4 +1 validated p.V523F 1.000 638 0% 617 30% 0 - probably_damaging(0.993) deleterious(0.02) deleterious(0.833) superfamily_ARM repeat ZC3H13 23091 genome.wustl.edu 37 13 46542015 46542016 + Frame_Shift_Ins INS - - CT novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_015070.3 -1 validated p.R1316fs 1.000:1.000 - - - - - - - - - NULL LRCH1 23143 genome.wustl.edu 37 13 47262024 47262024 + Missense_Mutation SNP T T C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_015116.2 +1 reviewed p.L287P 1.000 141 0% 168 29.2% 6 50% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_L domain-like PHF11 51131 genome.wustl.edu 37 13 50092190 50092190 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001040443.1 +1 validated p.G121* 1.000 191 0% 222 33.3% 27 3.7% - - - HMMSmart_PHD ALG11 440138 genome.wustl.edu 37 13 52598159 52598159 + Missense_Mutation SNP A A G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001004127.1 +1 provisional p.Y98C 0.989 268 0% 295 27.1% 3 100% benign(0.001) tolerated(0.58) neutral(0.005) superfamily_SSF53756 PCDH17 27253 genome.wustl.edu 37 13 58208037 58208037 + Missense_Mutation SNP A A G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001040429.2 +1 reviewed p.N453D 1.000 22 0% 14 57.1% 2 0% probably_damaging(0.998) deleterious(0.03) deleterious(0.839) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like DZIP1 22873 genome.wustl.edu 37 13 96236990 96236992 + In_Frame_Del DEL CTT CTT - novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_198968.2 -1 validated p.E841in_frame_del 1.000:1.000:1.000 - - - - - - - - - NULL ZIC2 7546 genome.wustl.edu 37 13 100637238 100637238 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_007129.2 +1 reviewed p.R372W 1.000 148 0% 111 34.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 LOC643677 643677 genome.wustl.edu 37 13 103392095 103392095 + Missense_Mutation SNP A A C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea XM_002344085.1 -1 model p.V3580G 0.005 681 0% 637 34.1% 0 - - - - NULL MYO16 23026 genome.wustl.edu 37 13 109704761 109704761 + Missense_Mutation SNP A A G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_015011.1 +1 validated p.S974G 0.946 344 0.3% 335 27.5% 0 - benign(0.291) tolerated(0.48) neutral(0.100) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases COL4A2 1284 genome.wustl.edu 37 13 111111172 111111172 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001846.2 +1 reviewed p.P496L 0.452 137 0% 123 23.6% 121 4.1% unknown(0) deleterious(0.01) - HMMPfam_Collagen CARS2 79587 genome.wustl.edu 37 13 111299500 111299500 + Missense_Mutation SNP T T C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_024537.2 -1 validated p.M381V 0.835 43 0% 37 21.6% 104 32.6% benign(0) tolerated(1) - superfamily_tRNAsyn_1a_bind PCID2 55795 genome.wustl.edu 37 13 113851420 113851420 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea ENST00000246505 -1 known p.R113Q 0.000 224 0% 207 24.2% 0 - benign(0) tolerated(0.39) neutral(0.016) NULL ATP4B 496 genome.wustl.edu 37 13 114306019 114306019 + Silent SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_000705.3 -1 reviewed p.N193 0.194 44 0% 32 40.6% 0 - - - - HMMPfam_Na_K-ATPase UPF3A 65110 genome.wustl.edu 37 13 115064476 115064476 + Splice_Site SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_023011.2 +1 reviewed e8+1 1.000 127 0% 140 34.3% 0 - - - - - ARHGEF40 55701 genome.wustl.edu 37 14 21542956 21542958 + In_Frame_Del DEL GAG GAG - novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 GAG GAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_018071.3 +1 validated p.G360in_frame_del 0.797:0.830:0.859 - - - - - - - - - NULL PSMB5 5693 genome.wustl.edu 37 14 23496970 23496970 + Missense_Mutation SNP T T C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001144932.1 -1 reviewed p.I192V 0.001 279 0% 404 29.7% 10 0% unknown(0) deleterious(0.02) - NULL DCAF11 80344 genome.wustl.edu 37 14 24586201 24586201 + Silent SNP A A G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_025230.4 +1 reviewed p.E77 0.999 257 0% 295 28.1% 29 24.1% - - - NULL IPO4 79711 genome.wustl.edu 37 14 24652208 24652208 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_024658.3 -1 validated p.V799M 0.001 56 0% 65 27.7% 56 48.2% benign(0.002) tolerated(0.15) neutral(0.241) superfamily_ARM repeat RABGGTA 5875 genome.wustl.edu 37 14 24735681 24735681 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_004581.3 -1 validated p.V504I 0.017 133 0% 83 16.9% 92 42.3% benign(0.022) tolerated(0.6) neutral(0.005) superfamily_SSF52058 AKAP6 9472 genome.wustl.edu 37 14 32902973 32902973 + Missense_Mutation SNP C C A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_004274.4 +1 reviewed p.Q92K 1.000 128 0% 154 27.3% 0 - probably_damaging(0.972) deleterious(0) deleterious(0.859) NULL MIPOL1 145282 genome.wustl.edu 37 14 37777293 37777293 + Missense_Mutation SNP T T C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_138731.5 +1 validated p.M219T 1.000 419 0% 378 32% 9 55.5% probably_damaging(0.98) tolerated(0.09) deleterious(0.720) NULL FOXA1 3169 genome.wustl.edu 37 14 38061527 38061527 + Silent SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_004496.2 -1 reviewed p.G154 0.041 58 0% 47 25.5% 0 - - - - HMMPfam_Fork_head_N MDGA2 161357 genome.wustl.edu 37 14 47530523 47530523 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001113498.1 -1 validated p.T416I 1.000 238 0% 232 34.9% 0 - benign(0.036) tolerated(0.36) neutral(0.022) HMMSmart_IGc2,HMMPfam_ig,superfamily_SSF48726 TMX1 81542 genome.wustl.edu 37 14 51721200 51721200 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_030755.4 +1 validated p.R269H 0.835 238 0% 249 22.1% 31 45.1% possibly_damaging(0.625) deleterious(0.01) deleterious(0.624) NULL SAMD4A 23034 genome.wustl.edu 37 14 55226948 55226948 + Missense_Mutation SNP A A G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_015589.4 +1 validated p.K415E 1.000 15 0.000 9 0.444 1 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL SOCS4 122809 genome.wustl.edu 37 14 55510291 55510291 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_080867.2 +1 reviewed p.R178* 0.038 111 0% 136 27.2% 3 0% - - - NULL HSPA2 3306 genome.wustl.edu 37 14 65009131 65009131 + Missense_Mutation SNP G G T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_021979.3 +1 validated p.V522L 1.000 57 0% 109 27.5% 18 0% benign(0.051) deleterious(0.01) neutral(0.409) HMMPfam_HSP70,superfamily_SSF100920 FNTB 2342 genome.wustl.edu 37 14 65511145 65511145 + Silent SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_002028.3 +1 validated p.R313 0.050 85 1.2% 64 35.9% 20 55% - - - superfamily_Terpenoid cyclases/Protein prenyltransferases ZFYVE26 23503 genome.wustl.edu 37 14 68238929 68238929 + Splice_Site SNP T T C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_015346.3 -1 reviewed e27-2 1.000 127 0% 157 31.2% 1 100% - - - - RPS6KL1 83694 genome.wustl.edu 37 14 75378030 75378030 + Silent SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_031464.3 -1 validated p.H164 0.234 127 0.8% 91 24.2% 1 100% - - - superfamily_Kinase_like TTLL5 23093 genome.wustl.edu 37 14 76198742 76198743 + Frame_Shift_Del DEL TC TC - novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 TC TC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_015072.4 +1 reviewed p.P371fs 1.000:1.000 - - - - - - - - - HMMPfam_TTL,superfamily_Glutathione synthetase ATP-binding domain-like STON2 85439 genome.wustl.edu 37 14 81744756 81744756 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_033104.2 -1 provisional p.T300M 0.017 167 0% 225 30.7% 5 60% possibly_damaging(0.598) tolerated(0.08) deleterious(0.507) NULL FOXN3 1112 genome.wustl.edu 37 14 89817028 89817028 + Missense_Mutation SNP T T C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001085471.1 -1 reviewed p.Q223R 1.000 700 0% 658 25.2% 7 28.5% possibly_damaging(0.872) tolerated(0.2) neutral(0.388) NULL BTBD7 55727 genome.wustl.edu 37 14 93714899 93714899 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001002860.2 -1 validated p.A682T 1.000 122 0% 120 35.8% 1 0% probably_damaging(1) tolerated(0.13) deleterious(0.752) NULL BDKRB2 624 genome.wustl.edu 37 14 96707784 96707784 + Silent SNP C C A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_000623.3 +1 reviewed p.S373 0.997 87 0% 82 22% 11 9% - - - NULL BCL11B 64919 genome.wustl.edu 37 14 99642459 99642459 + Silent SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_138576.2 -1 reviewed p.Q238 1.000 20 0% 24 45.8% 0 - - - - PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers MIR770 768222 genome.wustl.edu 37 14 101318815 101318815 + RNA SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea ENST00000390219 +1 known NULL 0.914 63 0% 57 28.1% 0 - - - - - DYNC1H1 1778 genome.wustl.edu 37 14 102442083 102442083 + Missense_Mutation SNP A A C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001376.4 +1 reviewed p.E97D 1.000 215 0% 273 29.7% 4 75% benign(0.003) tolerated(0.43) neutral(0.013) NULL DYNC1H1 1778 genome.wustl.edu 37 14 102452191 102452191 + Silent SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001376.4 +1 reviewed p.T543 0.006 151 0.7% 165 24.8% 4 50% - - - HMMPfam_DHC_N1 DYNC1H1 1778 genome.wustl.edu 37 14 102474645 102474645 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001376.4 +1 reviewed p.R1983H 0.999 98 0% 118 33.9% 20 40% possibly_damaging(0.811) deleterious(0.01) deleterious(0.711) HMMSmart_AAA,superfamily_SSF52540 CDC42BPB 9578 genome.wustl.edu 37 14 103410339 103410339 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_006035.3 -1 reviewed p.E1433K 0.821 111 0% 106 26.4% 46 45.6% benign(0) tolerated(0.47) neutral(0.011) HMMPfam_CNH,HMMSmart_CNH MARK3 4140 genome.wustl.edu 37 14 103932314 103932315 + Frame_Shift_Del DEL GA GA - novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 GA GA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001128918.1 +1 validated p.R264fs 0.999:1.000 - - - - - - - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase KIF26A 26153 genome.wustl.edu 37 14 104641518 104641518 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_015656.1 +1 validated p.A798V 0.780 49 0% 26 30.8% 0 - benign(0.005) deleterious(0.01) neutral(0.406) NULL INF2 64423 genome.wustl.edu 37 14 105172394 105172394 + Silent SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_022489.3 +1 validated p.L242 1.000 23 0% 21 42.9% 18 33.3% - - - HMMPfam_Drf_FH3 AHNAK2 113146 genome.wustl.edu 37 14 105408861 105408861 + Silent SNP C C A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_138420.2 -1 validated p.G4309 0.004 355 0% 298 29.5% 0 - - - - NULL AHNAK2 113146 genome.wustl.edu 37 14 105412299 105412299 + Silent SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_138420.2 -1 validated p.E3163 0.000 179 0% 178 65.7% 0 - - - - NULL CDCA4 55038 genome.wustl.edu 37 14 105478244 105478244 + Missense_Mutation SNP C C A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_017955.3 -1 reviewed p.R8M 1.000 64 0% 53 28.3% 13 38.4% probably_damaging(1) deleterious(0) deleterious(0.945) NULL IGHG3 3502 genome.wustl.edu 37 14 106237580 106237580 + Silent SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea ENST00000390550 -1 known p.L55 0.046 319 0% 270 31.9% 88 1.1% possibly_damaging(0.798) deleterious(0.02) deleterious(0.683) HMMPfam_C1-set,HMMSmart_SM00407,superfamily_Immunoglobulin LOC646057 646057 genome.wustl.edu 37 15 20192889 20192889 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea XM_001716562.2 -1 model p.R127C 0.438 103 0% 80 22.5% 0 - - - - HMMSmart_SM00409 OCA2 4948 genome.wustl.edu 37 15 28259951 28259951 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_000275.2 -1 reviewed p.A339T 0.082 88 0% 85 30.6% 1 0% benign(0.007) tolerated(0.31) neutral(0.027) HMMPfam_CitMHS ENSG00000215315 0 genome.wustl.edu 37 15 30337061 30337061 + Missense_Mutation SNP T T G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea ENST00000400005 +1 known p.F79V 1.000 125 0% 112 17% 1 0% - - - HMMPfam_MARVEL OTUD7A 161725 genome.wustl.edu 37 15 31779725 31779725 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_130901.1 -1 provisional p.H399Y 1.000 155 0% 130 27.7% 0 - possibly_damaging(0.902) deleterious(0) deleterious(0.801) NULL C15orf55 256646 genome.wustl.edu 37 15 34640181 34640181 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_175741.1 +1 validated p.P10S 0.003 179 0% 203 29.6% 0 - benign(0.091) tolerated(0.61) neutral(0.010) NULL C15orf55 256646 genome.wustl.edu 37 15 34646694 34646694 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_175741.1 +1 validated p.R347C 1.000 239 0% 267 36.3% 0 - probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL EIF2AK4 440275 genome.wustl.edu 37 15 40318214 40318214 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001013703.2 +1 validated p.R1476C 1.000 327 0% 350 32% 42 42.8% possibly_damaging(0.53) deleterious(0.01) deleterious(0.585) NULL DLL4 54567 genome.wustl.edu 37 15 41222123 41222123 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_019074.2 +1 reviewed p.P49S 1.000 17 0% 20 35% 6 0% benign(0) tolerated(0.76) neutral(0.001) HMMPfam_MNNL SPTBN5 51332 genome.wustl.edu 37 15 42156154 42156154 + Silent SNP A A G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_016642.2 -1 validated p.P2294 0.176 182 0% 171 28.7% 0 - - - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat EHD4 30844 genome.wustl.edu 37 15 42193050 42193052 + In_Frame_Del DEL CTC CTC - novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_139265.3 -1 validated p.E473in_frame_del 1.000:1.000:1.000 - - - - - - - - - HMMSmart_EH,superfamily_SSF47473 STRC 161497 genome.wustl.edu 37 15 43996941 43996941 + Missense_Mutation SNP A A G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea ENST00000381686 -1 known p.L1311P 0.993 187 0.5% 146 25.3% 0 - - - - NULL DUOX2 50506 genome.wustl.edu 37 15 45386853 45386853 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_014080.4 -1 reviewed p.R1478W 1.000 183 0% 158 27.2% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_NAD_binding_6,superfamily_Ferredoxin reductase-like C-terminal NADP-linked domain ENSG00000245635 0 genome.wustl.edu 37 15 52497390 52497390 + RNA SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea ENST00000499615 +1 known NULL 0.000 18 0% 18 33.3% 1 100% - - - - MYO5A 4644 genome.wustl.edu 37 15 52641025 52641025 + Splice_Site SNP T T C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_000259.3 -1 reviewed e29-2 1.000 202 0% 254 31.5% 0 - - - - - CCPG1 9236 genome.wustl.edu 37 15 55651714 55651714 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_004748.3 -1 validated p.H753Y 0.126 169 0% 162 29.6% 20 40% benign(0) tolerated(1) - NULL NEDD4 4734 genome.wustl.edu 37 15 56152628 56152628 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_198400.2 -1 validated p.V660M 0.088 262 0.4% 293 35.2% 2 0% benign(0.051) tolerated(0.1) neutral(0.289) NULL RFX7 64864 genome.wustl.edu 37 15 56386858 56386858 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_022841.5 -1 validated p.P1023L 1.000 253 0% 270 34.8% 3 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL LCTL 197021 genome.wustl.edu 37 15 66857133 66857133 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_207338.2 -1 validated p.A55T 1.000 70 0% 69 36.2% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Glyco_hydro_1,superfamily_Glyco_hydro_cat,PatternScan_GLYCOSYL_HYDROL_F1_2 PARP6 56965 genome.wustl.edu 37 15 72552964 72552964 + Missense_Mutation SNP C C A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_020214.2 -1 provisional p.R204L 1.000 141 0% 151 31.8% 19 15.7% probably_damaging(0.995) deleterious(0.01) deleterious(0.863) NULL C15orf60 283677 genome.wustl.edu 37 15 73843303 73843303 + Missense_Mutation SNP C C G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001042367.1 +1 predicted p.Q120E 0.982 165 0.6% 139 27.3% 0 - possibly_damaging(0.942) deleterious(0) deleterious(0.832) NULL ISLR2 57611 genome.wustl.edu 37 15 74425259 74425259 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001130136.1 +1 validated p.T55M 1.000 20 0% 28 21.4% 3 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_LRRNT,superfamily_SSF52058 SCAMP5 192683 genome.wustl.edu 37 15 75308960 75308960 + Missense_Mutation SNP C C A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_138967.3 +1 validated p.L55M 1.000 260 0% 271 32.1% 0 - possibly_damaging(0.952) deleterious(0.01) deleterious(0.801) HMMPfam_SCAMP SIN3A 25942 genome.wustl.edu 37 15 75692388 75692388 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001145357.1 -1 reviewed p.R616H 1.000 325 0.3% 345 28.7% 10 30% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HDAC_interact,HMMSmart_HDAC_interact LINGO1 84894 genome.wustl.edu 37 15 77907251 77907251 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_032808.5 -1 validated p.G333D 1.000 109 0% 113 24.8% 11 0% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMSmart_SM00369,superfamily_L domain-like CPEB1 64506 genome.wustl.edu 37 15 83222665 83222665 + Missense_Mutation SNP C C A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_030594.3 -1 reviewed p.K312N 1.000 244 0.4% 288 33% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL TM6SF1 53346 genome.wustl.edu 37 15 83795547 83795547 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_023003.3 +1 validated p.T250M 0.000 516 0% 477 30.2% 5 0% benign(0.396) tolerated(0.08) neutral(0.427) NULL SH3GL3 6457 genome.wustl.edu 37 15 84245410 84245410 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_003027.3 +1 validated p.E181K 0.997 168 0% 187 33.2% 1 100% possibly_damaging(0.574) deleterious(0.03) deleterious(0.561) HMMPfam_BAR,HMMSmart_SM00721 ZNF592 9640 genome.wustl.edu 37 15 85341259 85341259 + Silent SNP G G A rs181448204 by1000genomes TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_014630.2 +1 validated p.Q853 1.000 81 0% 53 32.1% 20 25% - - - NULL KIF7 374654 genome.wustl.edu 37 15 90193029 90193029 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_198525.2 -1 validated p.E158K 1.000 130 0% 115 35.7% 2 0% benign(0.147) deleterious(0.01) neutral(0.419) HMMPfam_Kinesin,HMMSmart_KISc,superfamily_SSF52540 ANPEP 290 genome.wustl.edu 37 15 90333747 90333749 + In_Frame_Del DEL AGA AGA - novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 AGA AGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001150.2 -1 reviewed p.F898in_frame_del 0.996:0.999:1.000 - - - - - - - - - NULL GABARAPL3 23766 genome.wustl.edu 37 15 90892293 90892293 + Missense_Mutation SNP C C A rs2589973 byCluster;byFrequency;by2Hit2Allele;by1000genomes TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea ENST00000412799 -1 known p.R46M 1.000 250 0.4% 281 26% 0 - benign(0.056) deleterious(0) neutral(0.448) HMMPfam_MAP1_LC3,superfamily_SSF54236 NR2F2 7026 genome.wustl.edu 37 15 96880723 96880723 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_021005.3 +1 reviewed p.V373I 1.000 235 0% 226 38.5% 62 11.2% possibly_damaging(0.94) tolerated(0.35) neutral(0.406) HMMPfam_Hormone_recep,HMMSmart_SM00430,superfamily_Nuclear receptor ligand-binding domain METRN 79006 genome.wustl.edu 37 16 767306 767306 + Silent SNP C C A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_024042.2 +1 validated p.A267 0.498 18 0.000 9 0.556 114 52.6% - - - NULL BAIAP3 8938 genome.wustl.edu 37 16 1394143 1394143 + Silent SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_003933.3 +1 reviewed p.L538 1.000 27 0% 32 43.8% 10 60% - - - NULL IFT140 9742 genome.wustl.edu 37 16 1573871 1573873 + In_Frame_Del DEL CTC CTC - novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_014714.3 -1 validated p.E1076in_frame_del 1.000:1.000:1.000 - - - - - - - - - superfamily_TPR-like MSRB1 51734 genome.wustl.edu 37 16 1991321 1991321 + Silent SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea ENST00000399753 -1 known p.T47 0.016 83 0% 52 25% 52 38.4% - - - HMMPfam_SelR,superfamily_Mss4_like LOC100287346 100287346 genome.wustl.edu 37 16 2818134 2818134 + Missense_Mutation SNP G G C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea XM_002343445.1 -1 model p.D152E 0.587 175 0% 188 35.6% 196 42.3% - - - NULL GLYR1 84656 genome.wustl.edu 37 16 4855292 4855292 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_032569.3 -1 validated p.A536V 1.000 178 0% 213 31.9% 20 40% probably_damaging(0.997) tolerated(0.09) deleterious(0.762) superfamily_6-phosphogluconate dehydrogenase C-terminal domain-like RBFOX1 54715 genome.wustl.edu 37 16 7647414 7647414 + Silent SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_145891.2 +1 reviewed p.T221 0.002 342 0% 422 34.1% 0 - - - - NULL PMM2 5373 genome.wustl.edu 37 16 8898674 8898674 + Missense_Mutation SNP A A G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_000303.2 +1 reviewed p.K77E 1.000 522 0% 520 31.5% 42 50% benign(0.009) tolerated(0.13) neutral(0.253) HMMPfam_PMM,superfamily_HAD-like ENSG00000234719 0 genome.wustl.edu 37 16 12021361 12021361 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea ENST00000399147 -1 known p.R338W 0.021 28 0% 51 33.3% 1 0% benign(0.05) deleterious(0) neutral(0.448) NULL MYH11 4629 genome.wustl.edu 37 16 15851685 15851685 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001040114.1 -1 reviewed p.P532L 1.000 201 0% 188 23.4% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 GPR139 124274 genome.wustl.edu 37 16 20043478 20043478 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001002911.2 -1 validated p.S214N 1.000 119 0% 180 30.6% 0 - benign(0.143) tolerated(0.36) neutral(0.033) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like GP2 2813 genome.wustl.edu 37 16 20331017 20331017 + Missense_Mutation SNP A A G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001007240.1 -1 validated p.L314P 0.044 865 0% 916 33.5% 21 4.7% probably_damaging(0.966) deleterious(0) deleterious(0.853) HMMPfam_Zona_pellucida,HMMSmart_SM00241 UMOD 7369 genome.wustl.edu 37 16 20357476 20357476 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001008389.1 -1 reviewed p.R385Q 0.196 51 0% 53 30.2% 0 - benign(0.006) tolerated(0.58) neutral(0.005) HMMPfam_Zona_pellucida,HMMSmart_SM00241 ACSM2B 348158 genome.wustl.edu 37 16 20552076 20552076 + Missense_Mutation SNP A A G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001105069.1 -1 validated p.I510T 0.998 422 0% 396 30.6% 0 - benign(0.064) deleterious(0) neutral(0.449) superfamily_Acetyl-CoA synthetase-like ENSG00000217794 0 genome.wustl.edu 37 16 21548155 21548155 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea ENST00000403120 -1 known p.R99H 0.009 59 0% 67 13.4% 0 - - - - HMMPfam_Carb_anhydrase,superfamily_Carbonic anhydrase NDUFAB1 4706 genome.wustl.edu 37 16 23598622 23598622 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_005003.2 -1 validated p.Q63* 0.018 166 0% 179 31.3% 98 6.1% - - - NULL TNRC6A 27327 genome.wustl.edu 37 16 24805947 24805947 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea ENST00000450465 +1 known p.G85* 1.000 358 0% 340 27.6% 6 66.6% benign(0.005) tolerated(0.48) neutral(0.011) NULL XPO6 23214 genome.wustl.edu 37 16 28123221 28123221 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_015171.2 -1 provisional p.S753N 1.000 216 0% 220 33.2% 42 42.8% benign(0.001) tolerated(0.33) neutral(0.024) superfamily_ARM repeat SH2B1 25970 genome.wustl.edu 37 16 28883134 28883134 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_015503.2 +1 reviewed p.A448V 1.000 98 0% 73 28.8% 36 22.2% benign(0.094) tolerated(0.22) neutral(0.049) NULL ATP2A1 487 genome.wustl.edu 37 16 28912072 28912072 + Silent SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_173201.2 +1 reviewed p.N645 0.029 53 0% 61 39.3% 0 - - - - HMMPfam_Hydrolase,superfamily_HAD-like,superfamily_Calcium ATPase transmembrane domain M FBRS 64319 genome.wustl.edu 37 16 30680709 30680709 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001105079.1 +1 validated p.R376C 0.970 16 0% 10 50% 27 51.8% unknown(0) deleterious(0) - NULL SRCAP 10847 genome.wustl.edu 37 16 30748644 30748644 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_006662.2 +1 validated p.R2428H 0.899 147 0% 192 33.9% 24 16.6% unknown(0) - - NULL BCL7C 9274 genome.wustl.edu 37 16 30904232 30904232 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_004765.2 -1 reviewed p.R70H 1.000 51 0% 54 38.9% 34 38.2% possibly_damaging(0.853) tolerated(0.08) deleterious(0.629) NULL ZNF646 9726 genome.wustl.edu 37 16 31087690 31087690 + Silent SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_014699.3 +1 validated p.R15 1.000 76 0% 89 28.1% 4 75% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers BCKDK 10295 genome.wustl.edu 37 16 31122466 31122466 + Missense_Mutation SNP T T C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea ENST00000441132 +1 known p.M251T 0.701 141 0.7% 151 30.5% 101 35.6% - - - NULL FUS 2521 genome.wustl.edu 37 16 31195692 31195692 + Silent SNP T T A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_004960.3 +1 reviewed p.G166 0.062 123 0% 163 33.7% 164 42.6% - - - NULL ZNF843 283933 genome.wustl.edu 37 16 31447410 31447410 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001136509.1 -1 provisional p.P254L 0.000 58 0% 60 33.3% 0 - unknown(0) - - NULL PHKB 5257 genome.wustl.edu 37 16 47628127 47628127 + Splice_Site SNP T T C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_000293.2 +1 reviewed e12+2 0.997 331 0% 274 31.4% 0 - - - - - PHKB 5257 genome.wustl.edu 37 16 47703238 47703238 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_000293.2 +1 reviewed p.A847V 1.000 164 0% 147 31.3% 47 48.9% probably_damaging(0.989) tolerated(0.69) neutral(0.442) HMMPfam_PHK_AB HERPUD1 9709 genome.wustl.edu 37 16 56973820 56973820 + Missense_Mutation SNP G G T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_014685.2 +1 reviewed p.A190S 1.000 140 0% 170 31.2% 271 34.3% probably_damaging(1) tolerated(0.26) deleterious(0.534) NULL ZNF319 57567 genome.wustl.edu 37 16 58031418 58031418 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_020807.1 -1 provisional p.T251M 1.000 86 0% 87 33.3% 9 44.4% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 CDH8 1006 genome.wustl.edu 37 16 61689584 61689584 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001796.2 -1 reviewed p.R566C 1.000 393 0.5% 357 29.4% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin CDH8 1006 genome.wustl.edu 37 16 61859045 61859045 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001796.2 -1 reviewed p.A236T 1.000 329 0% 241 25.3% 0 - possibly_damaging(0.515) tolerated(0.65) neutral(0.176) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin CES2 8824 genome.wustl.edu 37 16 66976021 66976021 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_003869.4 +1 reviewed p.T448I 0.015 253 0.4% 246 26.8% 25 48% benign(0.42) deleterious(0.05) deleterious(0.481) HMMPfam_COesterase,superfamily_alpha/beta-Hydrolases RANBP10 57610 genome.wustl.edu 37 16 67761726 67761726 + Silent SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_020850.1 -1 provisional p.R516 0.005 71 0% 73 35.6% 19 42.1% - - - HMMSmart_CRA,HMMPfam_RanBPM_CRA NUTF2 10204 genome.wustl.edu 37 16 67902440 67902440 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_005796.1 +1 reviewed p.A70T 1.000 208 1% 228 23.7% 427 22.2% benign(0.005) tolerated(1) - HMMPfam_NTF2,superfamily_NTF2-like ESRP2 80004 genome.wustl.edu 37 16 68265718 68265718 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_024939.2 -1 validated p.A429V 1.000 56 0% 56 19.6% 45 55.5% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL TMCO7 79613 genome.wustl.edu 37 16 69007972 69007972 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_024562.1 +1 validated p.P915S 0.637 274 0% 288 29.9% 9 33.3% benign(0.196) tolerated(0.65) neutral(0.021) superfamily_ARM repeat MARVELD3 91862 genome.wustl.edu 37 16 71660407 71660408 + Frame_Shift_Del DEL AC AC - novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 AC AC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001017967.2 +1 validated p.H94fs 0.641:0.451 - - - - - - - - - NULL AP1G1 164 genome.wustl.edu 37 16 71823341 71823341 + Silent SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001030007.1 -1 reviewed p.I14 1.000 172 0% 190 30.5% 9 55.5% - - - superfamily_ARM repeat ADAD2 161931 genome.wustl.edu 37 16 84228742 84228742 + Silent SNP C C T rs148697513 by1000genomes TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_139174.3 +1 validated p.D297 0.000 40 0% 24 37.5% 1 0% - - - NULL KIAA0513 9764 genome.wustl.edu 37 16 85120281 85120281 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_014732.2 +1 validated p.R348C 1.000 79 0% 60 20% 5 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL JPH3 57338 genome.wustl.edu 37 16 87678246 87678246 + Silent SNP C C A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_020655.2 +1 reviewed p.S255 1.000 49 0% 39 20.5% 0 - - - - NULL GAS8 2622 genome.wustl.edu 37 16 90106746 90106746 + Silent SNP C C A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001481.2 +1 reviewed p.T350 0.000 57 0% 93 30.1% 21 52.3% - - - NULL ABR 29 genome.wustl.edu 37 17 915128 915128 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_021962.2 -1 reviewed p.V687M 1.000 241 0% 280 36.4% 24 33.3% probably_damaging(0.995) tolerated(0.06) deleterious(0.780) HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP YWHAE 7531 genome.wustl.edu 37 17 1248584 1248587 + RNA DEL AAAA AAAA - novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 AAAA AAAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NR_024058.1 -1 reviewed NULL 1.000:1.000:1.000:1.000 - - - - - - - - - - WDR81 124997 genome.wustl.edu 37 17 1631227 1631227 + Missense_Mutation SNP A A G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea ENST00000409644 +1 known p.M992V 1.000 22 0% 26 46.2% 8 25% benign(0) tolerated(0.23) neutral(0.042) superfamily_WD40 repeat-like TSR1 55720 genome.wustl.edu 37 17 2239358 2239358 + Missense_Mutation SNP G G C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_018128.4 -1 validated p.S58R 1.000 316 0% 314 30.9% 19 26.3% benign(0.344) tolerated(0.39) neutral(0.124) NULL LOC100288674 100288674 genome.wustl.edu 37 17 2599489 2599489 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea XM_002343499.1 +1 model p.R56C 0.000 53 0% 38 28.9% 36 47.2% - - - NULL OR1D2 4991 genome.wustl.edu 37 17 2996245 2996245 + Missense_Mutation SNP C C A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_002548.2 -1 validated p.G16W 0.215 58 0% 102 33.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF81321 CYB5D2 124936 genome.wustl.edu 37 17 4046824 4046828 + RNA DEL AAAAA AAAAA - rs71383524 byCluster TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 AAAAA AAAAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NR_023346.1 +1 validated NULL 0.028:0.028:0.027:0.025:0.023 - - - - - - - - - - ALOX15 246 genome.wustl.edu 37 17 4539265 4539265 + Splice_Site SNP T T C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001140.3 -1 validated e8-2 0.364 124 0% 216 16.7% 0 - - - - - GLTPD2 388323 genome.wustl.edu 37 17 4692526 4692526 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001014985.1 +1 provisional p.R38C 0.001 35 0% 33 30.3% 1 100% benign(0.377) deleterious(0.02) deleterious(0.504) NULL MINK1 50488 genome.wustl.edu 37 17 4799345 4799345 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_153827.4 +1 reviewed p.V1138M 0.999 141 0% 156 32.7% 46 43.4% benign(0.201) deleterious(0) neutral(0.464) HMMPfam_CNH,HMMSmart_SM00036 CAMTA2 23125 genome.wustl.edu 37 17 4881814 4881814 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_015099.3 -1 validated p.R584C 1.000 114 0% 141 27.7% 19 52.6% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_TIG,superfamily_E set domains SCIMP 388325 genome.wustl.edu 37 17 5138049 5138049 + Missense_Mutation SNP A A G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_207103.2 -1 provisional p.M1T 0.235 121 0% 159 27.7% 2 0% benign(0.008) deleterious(0) neutral(0.445) NULL TMEM95 339168 genome.wustl.edu 37 17 7258534 7258534 + Missense_Mutation SNP T T C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_198154.1 +1 provisional p.L4P 0.545 37 0% 12 33.3% 0 - possibly_damaging(0.926) - - NULL CTC1 80169 genome.wustl.edu 37 17 8146423 8146423 + Missense_Mutation SNP G G T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_025099.5 -1 validated p.T26N 1.000 80 1.3% 90 38.9% 2 100% benign(0.185) tolerated(0.49) neutral(0.028) NULL USP43 124739 genome.wustl.edu 37 17 9596508 9596508 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_153210.3 +1 validated p.P473L 0.996 266 0% 259 34% 7 71.4% possibly_damaging(0.594) deleterious(0.02) deleterious(0.588) HMMPfam_UCH,superfamily_SSF54001 MYOCD 93649 genome.wustl.edu 37 17 12666422 12666422 + Missense_Mutation SNP T T C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_153604.2 +1 reviewed p.C760R 0.992 100 0% 108 28.7% 0 - probably_damaging(0.999) deleterious(0.03) deleterious(0.855) NULL TRPV2 51393 genome.wustl.edu 37 17 16329435 16329435 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_016113.3 +1 reviewed p.R316Q 1.000 163 0% 217 28.6% 7 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK TRPV2 51393 genome.wustl.edu 37 17 16335107 16335107 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_016113.3 +1 reviewed p.R533W 0.998 213 0% 160 36.9% 14 0% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_Ion_trans TOM1L2 146691 genome.wustl.edu 37 17 17772710 17772710 + Silent SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001082968.1 -1 validated p.T285 0.005 138 0% 104 26.9% 8 50% - - - HMMPfam_GAT,superfamily_GAT-like domain LRRC48 83450 genome.wustl.edu 37 17 17900914 17900914 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001130090.1 +1 validated p.R322H 0.000 120 0% 142 32.4% 4 50% benign(0.004) tolerated(0.12) neutral(0.261) NULL FLII 2314 genome.wustl.edu 37 17 18150119 18150119 + Missense_Mutation SNP T T G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_002018.2 -1 reviewed p.E947A 1.000 252 0% 283 29.7% 96 35.4% benign(0.009) tolerated(0.4) neutral(0.017) HMMSmart_GEL,superfamily_SSF55753 SLC47A2 146802 genome.wustl.edu 37 17 19584860 19584863 + Frame_Shift_Del DEL TCAT TCAT - novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 TCAT TCAT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_152908.3 -1 validated p.M465fs 0.951:0.968:0.990:0.980 - - - - - - - - - NULL DHRS7B 25979 genome.wustl.edu 37 17 21094373 21094373 + Silent SNP C C A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_015510.3 +1 validated p.S295 0.000 446 0% 437 29.5% 85 56.4% - - - superfamily_NAD(P)-bd PIPOX 51268 genome.wustl.edu 37 17 27380454 27380454 + Silent SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_016518.2 +1 validated p.G167 0.145 240 0% 272 31.6% 0 - - - - HMMPfam_DAO,superfamily_FAD/NAD(P)-binding domain TAOK1 57551 genome.wustl.edu 37 17 27816724 27816724 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_020791.1 +1 validated p.A233V 1.000 436 0% 388 19.1% 3 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase GIT1 28964 genome.wustl.edu 37 17 27901856 27901856 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001085454.1 -1 validated p.R726Q 1.000 52 0% 63 28.6% 37 35.1% benign(0.02) tolerated(0.25) neutral(0.038) NULL C17orf102 400591 genome.wustl.edu 37 17 32905987 32905987 + Missense_Mutation SNP G G A rs146470032 by1000genomes TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_207454.2 -1 validated p.R105C 0.000 53 0% 38 31.6% 0 - unknown(0) - - NULL SLFN11 91607 genome.wustl.edu 37 17 33680356 33680356 + Missense_Mutation SNP T T C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001104587.1 -1 validated p.S641G 0.241 255 0% 255 28.6% 20 0% possibly_damaging(0.451) tolerated(0.13) neutral(0.400) superfamily_P-loop containing nucleoside triphosphate hydrolases HNF1B 6928 genome.wustl.edu 37 17 36061117 36061117 + Missense_Mutation SNP G G T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_000458.2 -1 reviewed p.L469M 1.000 94 0% 85 31.8% 16 6.2% possibly_damaging(0.897) deleterious(0.01) deleterious(0.760) HMMPfam_HNF-1B_C MLLT6 4302 genome.wustl.edu 37 17 36865494 36865494 + Silent SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_005937.3 +1 validated p.N141 1.000 101 0% 75 37.3% 12 16.6% - - - HMMSmart_PHD FBXO47 494188 genome.wustl.edu 37 17 37094840 37094840 + Missense_Mutation SNP T T C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001008777.2 -1 validated p.Q410R 0.987 196 0% 215 26% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL CACNB1 782 genome.wustl.edu 37 17 37340111 37340111 + Missense_Mutation SNP A A T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_000723.3 -1 reviewed p.V302E 1.000 145 0.7% 104 34.6% 0 - probably_damaging(1) tolerated(0.09) deleterious(0.796) HMMPfam_Ca_channel_B,HMMSmart_SM00072,superfamily_P-loop containing nucleoside triphosphate hydrolases STARD3 10948 genome.wustl.edu 37 17 37815730 37815730 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_006804.3 +1 reviewed p.R240H 0.229 106 0% 121 35.5% 30 36.6% benign(0.001) tolerated(0.1) neutral(0.286) HMMPfam_START,HMMSmart_START,superfamily_SSF55961 TNS4 84951 genome.wustl.edu 37 17 38645086 38645086 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_032865.5 -1 validated p.R192Q 0.997 34 0% 25 28% 0 - probably_damaging(0.965) deleterious(0.02) deleterious(0.790) NULL KRT31 3881 genome.wustl.edu 37 17 39551123 39551123 + Silent SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_002277.2 -1 reviewed p.S358 0.005 235 0.4% 202 30.2% 0 - - - - HMMPfam_Filament,PatternScan_IF CNP 1267 genome.wustl.edu 37 17 40120129 40120131 + In_Frame_Del DEL TCT TCT - novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 TCT TCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_033133.4 +1 validated p.F18in_frame_del 1.000:1.000:1.000 - - - - - - - - - NULL STAT5A 6776 genome.wustl.edu 37 17 40456593 40456593 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_003152.3 +1 reviewed p.V435M 1.000 353 0% 299 32.4% 8 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_P53_like_DNA_bnd,HMMPfam_STAT_bind HSD17B1 3292 genome.wustl.edu 37 17 40705828 40705828 + Silent SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_000413.2 +1 validated p.D154 0.196 97 0% 102 35.3% 11 27.2% - - - HMMPfam_adh_short,PatternScan_ADH_SHORT,superfamily_NAD(P)-binding Rossmann-fold domains EZH1 2145 genome.wustl.edu 37 17 40876419 40876419 + Silent SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001991.3 -1 validated p.P90 0.107 338 0% 399 28.6% 3 33.3% - - - NULL ENSG00000251119 0 genome.wustl.edu 37 17 42266286 42266288 + RNA DEL TTT TTT - novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 TTT TTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea ENST00000509949 -1 novel NULL 0.519:0.581:0.663 - - - - - - - - - - FZD2 2535 genome.wustl.edu 37 17 42636580 42636580 + Silent SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001466.2 +1 reviewed p.A508 1.000 38 0% 40 30% 74 41.8% - - - HMMPfam_Frizzled DBF4B 80174 genome.wustl.edu 37 17 42808369 42808369 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_145663.1 +1 validated p.A152T 1.000 175 0% 194 33% 5 60% probably_damaging(0.989) deleterious(0.02) deleterious(0.823) NULL B4GALNT2 124872 genome.wustl.edu 37 17 47230249 47230249 + Silent SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_153446.2 +1 validated p.L207 1.000 62 0% 74 35.1% 0 - - - - NULL ABCC3 8714 genome.wustl.edu 37 17 48745239 48745239 + Missense_Mutation SNP C C A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_003786.3 +1 reviewed p.L551I 1.000 321 0% 336 32.7% 39 30.7% possibly_damaging(0.577) deleterious(0) deleterious(0.643) HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain MPO 4353 genome.wustl.edu 37 17 56356382 56356382 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_000250.1 -1 reviewed p.C291Y 1.000 76 0% 51 25.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_An_peroxidase,superfamily_Heme-dependent peroxidases BZRAP1 9256 genome.wustl.edu 37 17 56387404 56387406 + In_Frame_Del DEL TCC TCC - novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 TCC TCC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_004758.2 -1 validated p.E1274in_frame_del 0.552:0.737:0.734 - - - - - - - - - NULL MTMR4 9110 genome.wustl.edu 37 17 56572393 56572393 + Missense_Mutation SNP T T G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_004687.4 -1 validated p.E1037A 1.000 298 0.3% 330 31.2% 11 36.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PPM1E 22843 genome.wustl.edu 37 17 57058137 57058137 + Silent SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_014906.3 +1 reviewed p.R671 0.333 154 0.6% 176 34.1% 0 - - - - NULL DHX40 79665 genome.wustl.edu 37 17 57679953 57679953 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_024612.4 +1 reviewed p.G626D 1.000 353 0% 338 28.1% 35 45.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DUF1605 HEATR6 63897 genome.wustl.edu 37 17 58128256 58128256 + Missense_Mutation SNP C C A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_022070.4 -1 validated p.S791I 1.000 161 0% 147 28.6% 7 42.8% probably_damaging(0.998) tolerated(0.23) deleterious(0.516) superfamily_ARM-type_fold PPM1D 8493 genome.wustl.edu 37 17 58700948 58700948 + Missense_Mutation SNP T T C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_003620.2 +1 reviewed p.I180T 1.000 164 0% 266 34.6% 11 45.4% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMSmart_SM00332,superfamily_Protein serine/threonine phosphatase 2C catalytic domain,HMMPfam_PP2C EFCAB3 146779 genome.wustl.edu 37 17 60484498 60484498 + Silent SNP A A G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001144933.1 +1 validated p.L316 1.000 305 0% 387 30.2% 0 - - - - NULL C17orf72 92340 genome.wustl.edu 37 17 62076363 62076363 + Missense_Mutation SNP A A G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea ENST00000425164 +1 known p.M58V 0.995 19 0% 21 33.3% 3 100% benign(0.001) deleterious(0) neutral(0.445) NULL LRRC37A3 374819 genome.wustl.edu 37 17 62865277 62865277 + Missense_Mutation SNP T T C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_199340.2 -1 provisional p.N972D 0.545 105 0% 57 29.8% 1 0% possibly_damaging(0.95) deleterious(0.03) deleterious(0.758) superfamily_SSF52058 AMZ2 51321 genome.wustl.edu 37 17 66247314 66247314 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001033569.1 +1 validated p.T194I 0.867 584 0% 642 31% 61 44.2% benign(0.054) tolerated(0.18) neutral(0.060) "HMMPfam_Peptidase_M54,superfamily_Metalloproteases (""zincins"") catalytic domain" KCNJ16 3773 genome.wustl.edu 37 17 68128439 68128439 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_018658.1 +1 reviewed p.R71C 0.907 760 0% 816 26.6% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_IRK,superfamily_SSF81324 GRB2 2885 genome.wustl.edu 37 17 73317858 73317858 + Missense_Mutation SNP T T C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_002086.4 -1 reviewed p.K117R 1.000 188 0% 239 28.9% 77 27.2% probably_damaging(1) tolerated(0.07) deleterious(0.819) HMMPfam_SH2,HMMSmart_SM00252,superfamily_SH2 domain ITGB4 3691 genome.wustl.edu 37 17 73739940 73739940 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_000213.3 +1 reviewed p.R1037W 0.957 30 0% 22 36.4% 23 34.7% probably_damaging(0.988) deleterious(0) deleterious(0.882) HMMPfam_Calx-beta,HMMSmart_SM00237 TNRC6C 57690 genome.wustl.edu 37 17 76093836 76093836 + Silent SNP G G T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001142640.1 +1 validated p.P1436 0.964 68 0% 69 27.5% 4 25% - - - NULL PGS1 9489 genome.wustl.edu 37 17 76395548 76395548 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_024419.3 +1 provisional p.R211C 1.000 111 0% 113 25.7% 25 32% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Phospholipase D/nuclease CBX8 57332 genome.wustl.edu 37 17 77769084 77769084 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_020649.2 -1 validated p.R174C 0.196 122 0% 94 24.5% 14 35.7% probably_damaging(0.957) deleterious(0) deleterious(0.845) NULL CBX4 8535 genome.wustl.edu 37 17 77808934 77808934 + Silent SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_003655.2 -1 validated p.Y169 0.998 252 0% 205 27.3% 17 35.2% - - - NULL RNF213 57674 genome.wustl.edu 37 17 78318818 78318818 + Missense_Mutation SNP A A T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea ENST00000508628 +1 known p.D2228V 1.000 335 0% 303 30.4% 3 33.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL RNF213 57674 genome.wustl.edu 37 17 78320524 78320524 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea ENST00000508628 +1 known p.R2797C 0.942 38 0% 37 40.5% 4 25% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases TBCD 6904 genome.wustl.edu 37 17 80888412 80888412 + Silent SNP C C A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_005993.4 +1 reviewed p.T1002 0.001 128 0% 151 33.8% 148 56% - - - superfamily_ARM repeat SMCHD1 23347 genome.wustl.edu 37 18 2694685 2694688 + Frame_Shift_Del DEL AGTT AGTT - novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 AGTT AGTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_015295.2 +1 validated p.L346fs 1.000:1.000:1.000:1.000 - - - - - - - - - NULL L3MBTL4 91133 genome.wustl.edu 37 18 6239790 6239790 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_173464.3 -1 validated p.A212T 1.000 323 0% 371 26.7% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_MBT,HMMSmart_MBT,superfamily_SSF63748 LAMA1 284217 genome.wustl.edu 37 18 7034621 7034621 + Silent SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_005559.2 -1 validated p.N636 0.000 326 0.3% 327 30.3% 0 - - - - HMMPfam_Laminin_B,superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00281 PTPRM 5797 genome.wustl.edu 37 18 7955150 7955150 + Silent SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001105244.1 +1 reviewed p.L290 0.003 139 0.7% 140 29.3% 11 27.2% - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III GNAL 2774 genome.wustl.edu 37 18 11880998 11880998 + Frame_Shift_Del DEL C C - novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_182978.2 +1 validated p.T414fs 1.000 - - - - - - - - - HMMPfam_G-alpha,superfamily_SSF52540 AFG3L2 10939 genome.wustl.edu 37 18 12340264 12340266 + In_Frame_Del DEL AAG AAG - novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 AAG AAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_006796.1 -1 reviewed p.F639in_frame_del 1.000:1.000:1.000 - - - - - - - - - HMMPfam_Peptidase_M41,superfamily_SSF52540 SEH1L 81929 genome.wustl.edu 37 18 12986926 12986927 + In_Frame_Ins INS - - TCC novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001013437.1 +1 reviewed p.383in_frame_insP 1.000:0.997 - - - - - - - - - NULL OSBPL1A 114876 genome.wustl.edu 37 18 21761186 21761186 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_080597.2 -1 reviewed p.R579C 1.000 358 0% 365 31.2% 4 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Oxysterol_BP CELF4 56853 genome.wustl.edu 37 18 34833870 34833870 + Silent SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_020180.3 -1 reviewed p.A455 0.997 93 1.1% 72 33.3% 0 - - - - HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD NEDD4L 23327 genome.wustl.edu 37 18 55833068 55833068 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001144967.1 +1 validated p.A33T 1.000 761 0% 613 19.6% 9 44.4% probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) CDH19 28513 genome.wustl.edu 37 18 64176400 64176400 + Missense_Mutation SNP C C A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_021153.2 -1 reviewed p.D554Y 1.000 476 0% 386 32.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin TSHZ1 10194 genome.wustl.edu 37 18 72998160 72998160 + Silent SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_005786.4 +1 reviewed p.N221 1.000 50 0% 64 20.3% 9 44.4% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ATP9B 374868 genome.wustl.edu 37 18 77134011 77134011 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_198531.3 +1 validated p.V1062I 0.138 218 0% 210 24.8% 31 38.7% benign(0) tolerated(1) - NULL KLK10 5655 genome.wustl.edu 37 19 687023 687023 + Silent SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_214710.3 -1 validated p.L183 0.994 33 0% 35 34.3% 0 - - - - HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases C19orf21 126353 genome.wustl.edu 37 19 757829 757829 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_173481.2 +1 predicted p.R295W 0.998 32 0% 22 45.5% 47 38.2% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL C19orf6 91304 genome.wustl.edu 37 19 1011424 1011424 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001033026.1 -1 validated p.A387T 1.000 17 0% 19 42.1% 185 57.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Membralin ABCA7 10347 genome.wustl.edu 37 19 1046941 1046941 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_019112.3 +1 reviewed p.R588H 0.001 17 0% 13 30.8% 5 60% possibly_damaging(0.932) deleterious(0.01) deleterious(0.784) NULL GAMT 2593 genome.wustl.edu 37 19 1399821 1399821 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_138924.1 -1 reviewed p.R100W 0.998 51 0% 25 32% 35 37.1% possibly_damaging(0.82) deleterious(0) deleterious(0.755) superfamily_SSF53335 GAMT 2593 genome.wustl.edu 37 19 1399836 1399836 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_138924.1 -1 reviewed p.V95I 1.000 52 0% 24 33.3% 27 51.8% probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_SSF53335 KLF16 83855 genome.wustl.edu 37 19 1854601 1854601 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_031918.3 -1 validated p.A206T 1.000 25 0% 28 39.3% 6 50% possibly_damaging(0.951) deleterious(0.05) deleterious(0.740) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ENSG00000005206 0 genome.wustl.edu 37 19 2339981 2339981 + Silent SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea ENST00000432705 +1 known p.G252 0.000 120 0% 105 19% 0 - - - - NULL KDM4B 23030 genome.wustl.edu 37 19 5143983 5143983 + Silent SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_015015.2 +1 validated p.C852 0.995 36 0% 42 35.7% 32 34.3% - - - HMMSmart_SM00249,superfamily_FYVE/PHD zinc finger PTPRS 5802 genome.wustl.edu 37 19 5231552 5231552 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_002850.3 -1 reviewed p.P642S 1.000 17 0% 22 40.9% 16 56.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III KHSRP 8570 genome.wustl.edu 37 19 6417087 6417087 + Missense_Mutation SNP C C A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_003685.2 -1 validated p.G365W 1.000 82 0% 80 27.5% 138 36.2% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMSmart_SM00322,HMMPfam_KH_1,superfamily_Eukaryotic type KH-domain (KH-domain type I) TNFSF9 8744 genome.wustl.edu 37 19 6534701 6534701 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_003811.3 +1 reviewed p.T130M 0.000 104 0% 115 34.8% 0 - probably_damaging(0.999) deleterious(0.03) deleterious(0.855) HMMPfam_TNF,HMMSmart_TNF,superfamily_TNF_like SH2D3A 10045 genome.wustl.edu 37 19 6760850 6760850 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_005490.2 -1 validated p.R73Q 1.000 78 0% 90 34.4% 11 45.4% probably_damaging(0.99) tolerated(0.24) deleterious(0.479) HMMPfam_SH2,HMMSmart_SM00252,superfamily_SH2 domain STXBP2 6813 genome.wustl.edu 37 19 7703933 7703933 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_006949.2 +1 reviewed p.R39H 1.000 132 0% 123 31.7% 75 40% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sec1,superfamily_Sec1/munc18-like (SM) proteins MUC16 94025 genome.wustl.edu 37 19 9047420 9047420 + Missense_Mutation SNP A A G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_024690.2 -1 validated p.V11404A 0.000 728 0% 737 34.9% 0 - benign(0.099) - - NULL SLC44A2 57153 genome.wustl.edu 37 19 10753093 10753093 + Silent SNP T T C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_020428.3 +1 validated p.Y660 0.647 288 0% 292 29.5% 214 41.5% - - - HMMPfam_DUF580 SMARCA4 6597 genome.wustl.edu 37 19 11135038 11135038 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001128849.1 +1 reviewed p.A1002V 0.982 31 0% 33 30.3% 88 42% possibly_damaging(0.671) deleterious(0.01) deleterious(0.643) HMMPfam_SNF2_N DOCK6 57572 genome.wustl.edu 37 19 11348738 11348738 + Silent SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_020812.2 -1 validated p.P605 0.022 204 0% 239 33.9% 1 100% - - - NULL DOCK6 57572 genome.wustl.edu 37 19 11363474 11363474 + Missense_Mutation SNP C C A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_020812.2 -1 validated p.G98V 0.900 38 0% 32 25% 4 50% benign(0) tolerated(0.46) neutral(0.012) NULL ZNF763 284390 genome.wustl.edu 37 19 12089860 12089860 + Missense_Mutation SNP G G T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001012753.1 +1 validated p.G377V 0.670 304 0% 269 28.6% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL CC2D1A 54862 genome.wustl.edu 37 19 14034221 14034221 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_017721.4 +1 reviewed p.A573T 0.001 93 0% 104 35.6% 52 42.3% benign(0) tolerated(0.62) neutral(0.004) NULL SLC1A6 6511 genome.wustl.edu 37 19 15083543 15083543 + Silent SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_005071.1 -1 provisional p.L60 1.000 20 0% 19 31.6% 0 - unknown(0) - - HMMPfam_SDF BRD4 23476 genome.wustl.edu 37 19 15367855 15367855 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_058243.2 -1 reviewed p.D491N 1.000 27 0% 32 18.8% 31 41.9% probably_damaging(0.969) tolerated(0.19) neutral(0.461) NULL OR10H2 26538 genome.wustl.edu 37 19 15839202 15839202 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_013939.2 +1 validated p.V117I 0.868 306 0.3% 323 26% 0 - benign(0.006) tolerated(0.1) neutral(0.286) HMMPfam_7tm_1,superfamily_SSF81321 OR10H1 26539 genome.wustl.edu 37 19 15918478 15918478 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_013940.2 -1 validated p.V124M 0.368 274 0% 223 25.6% 0 - possibly_damaging(0.88) deleterious(0.01) deleterious(0.749) HMMPfam_7tm_1,superfamily_SSF81321 C19orf44 84167 genome.wustl.edu 37 19 16620726 16620726 + Silent SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_032207.2 +1 validated p.H522 0.000 91 0% 106 34% 3 33.3% - - - NULL CHERP 10523 genome.wustl.edu 37 19 16639060 16639060 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_006387.5 -1 validated p.S379N 0.973 41 0% 43 39.5% 33 51.5% benign(0) tolerated(0.38) neutral(0.018) NULL MED26 9441 genome.wustl.edu 37 19 16687028 16687028 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_004831.3 -1 validated p.T538M 0.000 60 0% 44 36.4% 13 46.1% benign(0.187) tolerated(0.1) neutral(0.304) NULL NWD1 284434 genome.wustl.edu 37 19 16860538 16860538 + Missense_Mutation SNP T T G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001007525.2 +1 validated p.L227R 0.870 15 0% 23 34.8% 0 - probably_damaging(0.996) tolerated(0.12) deleterious(0.722) superfamily_P-loop containing nucleoside triphosphate hydrolases NWD1 284434 genome.wustl.edu 37 19 16875956 16875956 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001007525.2 +1 validated p.R653H 0.272 179 0% 167 31.1% 0 - probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL GLT25D1 79709 genome.wustl.edu 37 19 17671228 17671228 + Missense_Mutation SNP A A G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_024656.2 +1 provisional p.Q148R 1.000 122 0% 132 25% 38 34.2% probably_damaging(0.994) deleterious(0) deleterious(0.897) superfamily_SSF53448 PIK3R2 5296 genome.wustl.edu 37 19 18273102 18273102 + Missense_Mutation SNP A A G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_005027.2 +1 validated p.Y331C 1.000 32 0% 45 26.7% 42 40.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SH2,HMMSmart_SM00252,superfamily_SH2 domain KIAA1683 80726 genome.wustl.edu 37 19 18376171 18376171 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001145304.1 -1 validated p.V727M 0.000 116 0% 146 33.6% 0 - benign(0.002) tolerated(0.17) neutral(0.059) NULL COMP 1311 genome.wustl.edu 37 19 18895155 18895155 + Missense_Mutation SNP C C A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_000095.2 -1 reviewed p.G645C 1.000 63 0% 41 22% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TSP_C,superfamily_ConA_like_lec_gl HOMER3 9454 genome.wustl.edu 37 19 19049966 19049966 + RNA SNP A A G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NR_027297.1 -1 reviewed NULL 0.000 6 0.000 17 0.471 1 100% - - - - TSSK6 83983 genome.wustl.edu 37 19 19626125 19626125 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_032037.2 -1 validated p.V38M 0.988 79 0% 73 34.2% 1 100% probably_damaging(0.962) deleterious(0) deleterious(0.850) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase ATP13A1 57130 genome.wustl.edu 37 19 19765378 19765378 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_020410.2 -1 validated p.T596M 0.998 67 0% 50 32% 72 44.4% benign(0.07) tolerated(0.06) neutral(0.328) HMMPfam_Hydrolase,superfamily_HAD-like,superfamily_Metal cation-transporting ATPase ATP-binding domain N ZNF85 7639 genome.wustl.edu 37 19 21132152 21132153 + Frame_Shift_Del DEL AT AT - novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 AT AT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_003429.3 +1 validated p.I278fs 1.000:0.999 - - - - - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF429 353088 genome.wustl.edu 37 19 21719302 21719302 + Missense_Mutation SNP A A G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001001415.2 +1 provisional p.I149M 0.016 244 0.4% 269 32.3% 1 0% benign(0.142) tolerated(0.08) neutral(0.312) superfamily_SSF57667 ZNF724P 440519 genome.wustl.edu 37 19 23406617 23406617 + Missense_Mutation SNP T T C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea ENST00000418100 -1 known p.I144V 0.000 245 0% 232 30.6% 2 100% benign(0.017) tolerated(0.4) neutral(0.017) superfamily_C2H2 and C2HC zinc fingers CCNE1 898 genome.wustl.edu 37 19 30308054 30308054 + Missense_Mutation SNP A A T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001238.1 +1 reviewed p.N64I 0.000 147 0% 190 24.2% 54 53.7% benign(0.002) deleterious(0.01) neutral(0.406) NULL DPY19L3 147991 genome.wustl.edu 37 19 32955657 32955657 + Silent SNP A A G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_207325.2 +1 validated p.V527 0.982 461 0% 513 27.9% 4 25% - - - HMMPfam_DUF2211 ANKRD27 84079 genome.wustl.edu 37 19 33090638 33090638 + Missense_Mutation SNP G G T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_032139.2 -1 validated p.P964H 0.987 328 0.3% 326 29.4% 12 16.6% probably_damaging(0.984) deleterious(0) deleterious(0.875) NULL SLC7A10 56301 genome.wustl.edu 37 19 33702398 33702398 + Silent SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_019849.2 -1 validated p.F278 0.884 141 0% 151 29.8% 0 - - - - HMMPfam_AA_permease RBM42 79171 genome.wustl.edu 37 19 36124672 36124672 + Silent SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_024321.3 +1 provisional p.A256 0.159 60 3.3% 49 40.8% 42 33.3% - - - NULL POLR2I 5438 genome.wustl.edu 37 19 36605708 36605708 + Silent SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_006233.4 -1 reviewed p.C17 1.000 93 0% 112 11.6% 210 6.1% - - - HMMPfam_RNA_POL_M_15KD,HMMSmart_SM00661,PatternScan_RNA_POL_M_15KD,superfamily_Zinc beta-ribbon ZNF571 51276 genome.wustl.edu 37 19 38056480 38056480 + Missense_Mutation SNP A A G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_016536.3 -1 validated p.C284R 0.995 200 0% 206 27.2% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 WDR87 83889 genome.wustl.edu 37 19 38377669 38377669 + Missense_Mutation SNP T T C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_031951.3 -1 provisional p.I2175M 0.000 579 0% 666 30.2% 0 - possibly_damaging(0.681) - - superfamily_WD40 repeat-like,superfamily_ARM repeat RYR1 6261 genome.wustl.edu 37 19 38990276 38990276 + Silent SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_000540.2 +1 reviewed p.G2343 0.419 14 0% 22 45.5% 0 - - - - HMMPfam_RYDR_ITPR SARS2 54938 genome.wustl.edu 37 19 39412714 39412714 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea ENST00000430193 -1 known p.R133Q 0.000 156 0% 205 35.6% 3 66.6% benign(0.098) tolerated(0.56) neutral(0.014) NULL ZFP36 7538 genome.wustl.edu 37 19 39898385 39898385 + Silent SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_003407.2 +1 provisional p.S9 0.993 10 0% 13 38.5% 126 19% - - - NULL ZFP36 7538 genome.wustl.edu 37 19 39898924 39898924 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_003407.2 +1 provisional p.G189D 1.000 17 0% 17 35.3% 182 22.5% probably_damaging(0.989) deleterious(0.03) deleterious(0.804) NULL PRX 57716 genome.wustl.edu 37 19 40902279 40902279 + Silent SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_181882.2 -1 reviewed p.P660 0.012 151 0% 175 27.4% 0 - - - - NULL LTBP4 8425 genome.wustl.edu 37 19 41131831 41131831 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea ENST00000308370 +1 known p.R1367H 0.997 20 0% 17 23.5% 49 24.4% probably_damaging(1) tolerated(0.45) deleterious(0.512) HMMPfam_TB,superfamily_Fibril-assoc LOC390937 390937 genome.wustl.edu 37 19 42414106 42414106 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea XM_372730.7 -1 model p.V71I 1.000 110 0.9% 92 28.3% 0 - - - - "HMMPfam_Ets,HMMSmart_SM00413,superfamily_""Winged helix"" DNA-binding domain" MEGF8 1954 genome.wustl.edu 37 19 42862325 42862325 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001410.2 +1 validated p.E1614K 1.000 86 0% 75 38.7% 2 50% probably_damaging(0.998) tolerated(0.62) deleterious(0.478) superfamily_Gal_oxid_central ZNF233 353355 genome.wustl.edu 37 19 44768528 44768528 + Missense_Mutation SNP G G T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_181756.1 +1 provisional p.Q5H 0.936 617 0% 663 32% 0 - benign(0.076) - - superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZFP112 7771 genome.wustl.edu 37 19 44831956 44831956 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001083335.1 -1 validated p.R791H 0.530 445 0.2% 490 29% 3 0% possibly_damaging(0.691) tolerated(0.14) deleterious(0.497) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers CEACAM19 56971 genome.wustl.edu 37 19 45176024 45176024 + Missense_Mutation SNP C C G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_020219.3 +1 validated p.T71R 0.000 111 0% 107 29.9% 3 33.3% possibly_damaging(0.733) deleterious(0.02) deleterious(0.651) superfamily_Immunoglobulin CEACAM16 388551 genome.wustl.edu 37 19 45202699 45202699 + Silent SNP T T C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001039213.2 +1 validated p.Y50 0.002 210 0% 181 26.5% 0 - - - - NULL HIF3A 64344 genome.wustl.edu 37 19 46808599 46808599 + Silent SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_152795.2 +1 reviewed p.D105 1.000 52 0% 59 28.8% 0 - - - - HMMSmart_SM00091,HMMPfam_PAS,superfamily_PYP-like sensor domain (PAS domain) ARHGAP35 2909 genome.wustl.edu 37 19 47425038 47425038 + Frame_Shift_Del DEL A A - novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_004491.4 +1 reviewed p.V1037fs 1.000 - - - - - - - - - NULL LOC100287311 100287311 genome.wustl.edu 37 19 47823349 47823349 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea XM_002343688.1 -1 model p.A59T 0.000 91 0% 101 28.7% 6 0% - - - NULL EHD2 30846 genome.wustl.edu 37 19 48244338 48244338 + Silent SNP T T C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_014601.3 +1 reviewed p.P427 0.746 66 0% 47 23.4% 20 0% - - - NULL RPL18 6141 genome.wustl.edu 37 19 49120016 49120016 + Missense_Mutation SNP A A T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_000979.2 -1 reviewed p.D88E 0.997 173 0% 189 42.3% 4760 45.1% possibly_damaging(0.813) deleterious(0) deleterious(0.752) HMMPfam_Ribosomal_L18e,superfamily_Ribosomal proteins L15p and L18e PPP1R15A 23645 genome.wustl.edu 37 19 49376606 49376606 + Missense_Mutation SNP T T C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_014330.3 +1 validated p.L39P 0.898 63 0% 44 27.3% 41 39% benign(0.001) tolerated(0.63) neutral(0.004) NULL IRF3 3661 genome.wustl.edu 37 19 50165385 50165385 + Missense_Mutation SNP G G T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001571.4 -1 validated p.L268M 0.254 39 0% 42 28.6% 36 33.3% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) superfamily_SMAD_FHA,HMMPfam_IRF-3 LOC100131293 100131293 genome.wustl.edu 37 19 50862246 50862246 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea XM_001724548.2 +1 model p.A152V 0.001 133 0% 209 30.6% 0 - - - - NULL POLD1 5424 genome.wustl.edu 37 19 50910642 50910642 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_002691.2 +1 validated p.T582M 1.000 39 0% 15 53.3% 38 34.2% benign(0.359) deleterious(0) deleterious(0.558) HMMPfam_DNA_pol_B,HMMSmart_POLBc,superfamily_SSF56672 ZNF610 162963 genome.wustl.edu 37 19 52869672 52869672 + Silent SNP T T C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_173530.2 +1 validated p.N347 0.000 210 0% 258 34.9% 6 50% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers NLRP12 91662 genome.wustl.edu 37 19 54314332 54314332 + Missense_Mutation SNP A A G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_144687.2 -1 reviewed p.I194T 1.000 70 0% 59 32.2% 0 - benign(0.089) deleterious(0) neutral(0.451) NULL TMC4 147798 genome.wustl.edu 37 19 54668307 54668307 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001145303.1 -1 validated p.R331H 0.851 24 0% 38 26.3% 114 40.3% possibly_damaging(0.937) deleterious(0.02) deleterious(0.766) NULL LILRA5 353514 genome.wustl.edu 37 19 54818744 54818744 + Missense_Mutation SNP T T C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_021250.2 -1 reviewed p.Q285R 0.001 330 0.3% 281 31.3% 5 0% benign(0.039) deleterious(0) neutral(0.447) NULL TTYH1 57348 genome.wustl.edu 37 19 54933406 54933406 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001005367.1 +1 reviewed p.E154* 0.903 10 0% 10 50% 0 - - - - HMMPfam_Tweety LILRA2 11027 genome.wustl.edu 37 19 55086213 55086213 + Missense_Mutation SNP C C A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001130917.1 +1 validated p.P123H 0.144 262 0% 285 28.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Immunoglobulin KIR3DL1 3811 genome.wustl.edu 37 19 55329773 55329773 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_013289.2 +1 reviewed p.G25D 0.000 132 0% 236 38.6% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_Immunoglobulin NCR1 9437 genome.wustl.edu 37 19 55417575 55417575 + Silent SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_004829.5 +1 validated p.C10 0.100 110 0% 137 35% 0 - - - - NULL PPP6R1 22870 genome.wustl.edu 37 19 55748112 55748112 + Missense_Mutation SNP C C A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_014931.3 -1 validated p.E629D 0.998 283 0% 257 31.5% 83 36.1% benign(0.253) tolerated(0.47) neutral(0.037) NULL TMEM190 147744 genome.wustl.edu 37 19 55889354 55889354 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_139172.1 +1 provisional p.R106H 0.926 26 0% 22 22.7% 1 0% probably_damaging(0.986) deleterious(0) deleterious(0.879) NULL SSC5D 284297 genome.wustl.edu 37 19 56011623 56011623 + Silent SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001144950.1 +1 provisional p.L716 0.001 42 0% 49 28.6% 0 - - - - NULL EPN1 29924 genome.wustl.edu 37 19 56206560 56206560 + Silent SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001130071.1 +1 validated p.A609 0.003 61 0% 29 31% 168 49.4% - - - NULL ZNF835 90485 genome.wustl.edu 37 19 57175130 57175130 + Silent SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001005850.1 -1 provisional p.C501 0.991 70 0% 56 30.4% 1 0% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 RBCK1 10616 genome.wustl.edu 37 20 390588 390588 + Missense_Mutation SNP A A G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_031229.2 +1 reviewed p.K29R 0.038 36 0% 31 29% 55 25.4% benign(0.059) tolerated(0.32) neutral(0.028) NULL NOP56 10528 genome.wustl.edu 37 20 2635156 2635156 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_006392.2 +1 reviewed p.A102V 1.000 212 0% 222 31.5% 56 48.2% benign(0.006) tolerated(0.05) neutral(0.345) NULL PLCB4 5332 genome.wustl.edu 37 20 9360700 9360700 + Splice_Site SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_000933.3 +1 reviewed e10-1 1.000 219 0% 186 28.5% 0 - - - - - JAG1 182 genome.wustl.edu 37 20 10639128 10639128 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_000214.2 -1 reviewed p.E228K 1.000 119 0% 117 29.1% 5 0% benign(0.186) tolerated(0.2) neutral(0.067) HMMPfam_DSL,HMMSmart_DSL C20orf72 92667 genome.wustl.edu 37 20 17956382 17956382 + Silent SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_052865.2 +1 predicted p.P189 0.010 352 0% 439 33.9% 8 25% - - - NULL SLC24A3 57419 genome.wustl.edu 37 20 19701772 19701772 + Silent SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_020689.3 +1 validated p.C641 1.000 259 0% 214 34.6% 1 0% - - - NULL ENTPD6 955 genome.wustl.edu 37 20 25187945 25187945 + Silent SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001247.2 +1 reviewed p.D96 0.000 85 0% 52 36.5% 21 38% - - - HMMPfam_GDA1_CD39 ENSG00000202414 0 genome.wustl.edu 37 20 25195338 25195338 + RNA SNP G G A rs149597570 by1000genomes TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea ENST00000365544 +1 novel NULL 0.001 16 0% 29 48.3% 0 - - - - - HM13 81502 genome.wustl.edu 37 20 30137093 30137093 + Silent SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_178581.1 +1 reviewed p.G208 1.000 154 0% 184 39.7% 659 48.8% - - - HMMSmart_PSN,HMMPfam_Peptidase_A22B ACSS2 55902 genome.wustl.edu 37 20 33509210 33509210 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_018677.3 +1 reviewed p.R452Q 0.188 116 0% 95 37.9% 20 45% benign(0.195) tolerated(0.1) neutral(0.305) HMMPfam_AMP-binding,superfamily_SSF56801 MYH7B 57644 genome.wustl.edu 37 20 33574720 33574720 + Silent SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_020884.3 +1 reviewed p.D354 1.000 199 0% 176 24.4% 0 - - - - HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases C20orf4 25980 genome.wustl.edu 37 20 34843530 34843530 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_015511.3 +1 predicted p.V340M 0.994 141 0% 117 24.8% 48 39.5% probably_damaging(0.992) deleterious(0.01) deleterious(0.853) HMMPfam_AAR2 C20orf24 55969 genome.wustl.edu 37 20 35240737 35240737 + RNA SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NR_026562.1 +1 validated NULL 0.743 53 0% 74 33.8% 114 38.5% - - - - TGM2 7052 genome.wustl.edu 37 20 36766732 36766732 + Silent SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_004613.2 -1 reviewed p.A466 0.000 152 0.7% 149 28.9% 74 1.3% - - - NULL BPI 671 genome.wustl.edu 37 20 36948660 36948660 + Missense_Mutation SNP T T A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001725.2 +1 reviewed p.L251Q 0.514 85 0% 59 27.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_LBP_BPI_CETP_C,HMMSmart_BPI1,superfamily_Bactericidal_perm-incr_a/b_dom DHX35 60625 genome.wustl.edu 37 20 37652345 37652345 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_021931.2 +1 reviewed p.R536C 1.000 241 0% 252 30.2% 2 0% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_HA2,superfamily_P-loop containing nucleoside triphosphate hydrolases ZHX3 23051 genome.wustl.edu 37 20 39831027 39831027 + Missense_Mutation SNP G G T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_015035.3 -1 reviewed p.P844T 0.136 259 0% 276 34.8% 11 36.3% possibly_damaging(0.948) tolerated(0.56) neutral(0.398) NULL ARFGEF2 10564 genome.wustl.edu 37 20 47630457 47630457 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_006420.2 +1 reviewed p.R1380Q 1.000 324 0.6% 325 27.7% 5 40% probably_damaging(0.998) deleterious(0.04) deleterious(0.823) superfamily_ARM-type_fold TSHZ2 128553 genome.wustl.edu 37 20 51870087 51870087 + Silent SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_173485.4 +1 validated p.E30 1.000 89 0% 99 24.2% 0 - - - - NULL ZBP1 81030 genome.wustl.edu 37 20 56188298 56188298 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_030776.2 -1 validated p.W197* 0.001 485 0% 530 29.6% 8 0% - - - NULL TH1L 51497 genome.wustl.edu 37 20 57564970 57564970 + Silent SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_198976.1 +1 reviewed p.L248 1.000 29 0% 24 25% 74 50% - - - HMMPfam_TH1 EDN3 1908 genome.wustl.edu 37 20 57896077 57896077 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_000114.2 +1 reviewed p.T124M 1.000 117 0% 100 29% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL LAMA5 3911 genome.wustl.edu 37 20 60921799 60921799 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_005560.3 -1 reviewed p.R377H 0.002 74 0% 75 30.7% 10 70% benign(0.037) deleterious(0.01) neutral(0.408) HMMPfam_Laminin_EGF,HMMSmart_SM00180,HMMSmart_SM00181,superfamily_EGF/Laminin PRIC285 85441 genome.wustl.edu 37 20 62193208 62193208 + Missense_Mutation SNP C C G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001037335.2 -1 reviewed p.G2220A 1.000 9 0.000 12 0.333 14 7.1% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_P-loop containing nucleoside triphosphate hydrolases RTEL1 51750 genome.wustl.edu 37 20 62294235 62294235 + Silent SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_032957.3 +1 reviewed p.N177 0.976 102 0% 84 26.2% 1 100% - - - HMMSmart_DEXDc2,HMMPfam_DEAD_2,superfamily_SSF52540 ZBTB46 140685 genome.wustl.edu 37 20 62421893 62421893 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_025224.2 -1 provisional p.T73M 1.000 39 0% 34 32.4% 5 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMSmart_BTB,superfamily_BTB/POZ_fold,HMMPfam_BTB ZBTB46 140685 genome.wustl.edu 37 20 62422079 62422079 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_025224.2 -1 provisional p.T11M 0.999 14 0% 17 35.3% 1 0% possibly_damaging(0.891) deleterious(0.01) deleterious(0.756) superfamily_BTB/POZ_fold BACH1 571 genome.wustl.edu 37 21 30701923 30701925 + In_Frame_Del DEL GAA GAA - novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 GAA GAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001186.2 +1 reviewed p.R564in_frame_del 1.000:0.209:0.926 - - - - - - - - - HMMSmart_SM00338,PatternScan_BZIP_BASIC,superfamily_A DNA-binding domain in eukaryotic transcription factors,HMMPfam_bZIP_1 GRIK1 2897 genome.wustl.edu 37 21 30949473 30949473 + Silent SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_000830.3 -1 reviewed p.S647 0.454 133 0% 129 29.5% 0 - - - - HMMPfam_Lig_chan,HMMSmart_SM00079,superfamily_Periplasmic binding protein-like II SYNJ1 8867 genome.wustl.edu 37 21 34067464 34067464 + Missense_Mutation SNP A A G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_003895.3 -1 validated p.L203P 1.000 251 0.4% 283 33.6% 0 - possibly_damaging(0.814) deleterious(0) deleterious(0.752) HMMPfam_Syja_N SON 6651 genome.wustl.edu 37 21 34922665 34922665 + Silent SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_138927.1 +1 reviewed p.S376 1.000 112 0% 77 36.4% 23 65.2% - - - NULL ITSN1 6453 genome.wustl.edu 37 21 35122513 35122513 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_003024.2 +1 reviewed p.P138S 1.000 209 0% 218 31.7% 2 50% unknown(0) deleterious(0.04) - superfamily_EF-hand TTC3 7267 genome.wustl.edu 37 21 38538285 38538285 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001001894.1 +1 validated p.V1257I 0.000 146 0% 125 35.2% 34 50% benign(0) tolerated(0.3) neutral(0.029) superfamily_Spectrin,superfamily_SSF48452 DSCR3 10311 genome.wustl.edu 37 21 38600600 38600600 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea ENST00000288304 -1 known p.G152R 0.079 121 0% 120 27.5% 21 52.3% benign(0) tolerated(0.42) neutral(0.014) NULL DSCAM 1826 genome.wustl.edu 37 21 41450819 41450819 + Silent SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001389.3 -1 validated p.G1502 0.985 68 0% 60 48.3% 0 - - - - HMMSmart_SM00060,superfamily_Fibronectin type III PDE9A 5152 genome.wustl.edu 37 21 44190901 44190901 + Missense_Mutation SNP T T C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_002606.2 +1 reviewed p.M560T 0.307 145 0% 186 25.8% 71 46.4% benign(0) tolerated(0.84) neutral(0.001) superfamily_HD-domain/PDEase-like PCNT 5116 genome.wustl.edu 37 21 47786998 47786998 + Missense_Mutation SNP G G A rs119479063 byCluster;byFrequency TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_006031.5 +1 reviewed p.E1037K 0.000 45 2.2% 60 41.7% 6 33.3% benign(0.04) tolerated(0.2) neutral(0.052) NULL PCNT 5116 genome.wustl.edu 37 21 47850015 47850015 + Silent SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_006031.5 +1 reviewed p.S2594 0.000 198 0% 220 32.7% 9 0% - - - NULL MICAL3 57553 genome.wustl.edu 37 22 18305806 18305806 + Silent SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_015241.2 -1 provisional p.L1072 1.000 315 0% 251 32.3% 3 100% - - - NULL MICAL3 57553 genome.wustl.edu 37 22 18385447 18385447 + Missense_Mutation SNP T T C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_015241.2 -1 provisional p.N180S 1.000 614 0% 732 32.1% 4 0% possibly_damaging(0.521) tolerated(0.21) neutral(0.219) superfamily_FAD/NAD(P)-binding domain ARVCF 421 genome.wustl.edu 37 22 19960455 19960455 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001670.1 -1 reviewed p.R848H 1.000 110 0% 116 37.1% 30 40% benign(0) tolerated(0.48) neutral(0.011) NULL PI4KA 5297 genome.wustl.edu 37 22 21150544 21150544 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_058004.2 -1 reviewed p.E665K 1.000 130 0% 134 38.1% 8 37.5% probably_damaging(0.981) deleterious(0.02) deleterious(0.808) NULL PPIL2 23759 genome.wustl.edu 37 22 22049097 22049097 + Silent SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_148176.2 +1 reviewed p.A441 0.020 53 0% 76 43.4% 38 39.4% - - - NULL IGLV9-49 28773 genome.wustl.edu 37 22 22697914 22697914 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea ENST00000427632 +1 known p.R68* 0.000 219 0% 206 37.9% 40 0% - - - HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin MYO18B 84700 genome.wustl.edu 37 22 26423052 26423052 + Missense_Mutation SNP C C A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_032608.5 +1 reviewed p.P2371H 0.000 98 0% 100 28% 2 50% benign(0.09) deleterious(0.05) neutral(0.352) NULL MN1 4330 genome.wustl.edu 37 22 28193433 28193433 + Missense_Mutation SNP C C G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_002430.2 -1 reviewed p.K1033N 1.000 13 0% 10 40% 0 - probably_damaging(0.995) deleterious(0.02) deleterious(0.841) NULL RFPL1 5988 genome.wustl.edu 37 22 29837764 29837764 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_021026.2 +1 validated p.R203C 0.025 359 0% 416 28.1% 0 - benign(0.099) tolerated(0.08) neutral(0.307) HMMPfam_SPRY,HMMSmart_SPRY THOC5 8563 genome.wustl.edu 37 22 29945123 29945123 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001002877.1 -1 validated p.S5L 0.999 449 0% 577 32.9% 14 35.7% benign(0.086) tolerated(0.13) neutral(0.259) NULL SEC14L2 23541 genome.wustl.edu 37 22 30803470 30803470 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_012429.2 +1 reviewed p.D101N 1.000 226 0% 220 31.8% 13 23% benign(0.01) tolerated(0.41) neutral(0.015) HMMPfam_CRAL_TRIO,HMMSmart_SEC14,superfamily_CRAL_TRIO_C ENSG00000251232 0 genome.wustl.edu 37 22 32017070 32017070 + Silent SNP A A G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea ENST00000422296 -1 known p.I422T 1.000 137 0% 105 25.7% 24 41.6% - - - HMMPfam_PS_Dcarbxylase TMPRSS6 164656 genome.wustl.edu 37 22 37462136 37462136 + Missense_Mutation SNP T T C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_153609.2 -1 reviewed p.Q807R 1.000 39 0% 45 48.9% 1 0% benign(0.271) tolerated(0.28) neutral(0.060) superfamily_Trypsin-like serine proteases CARD10 29775 genome.wustl.edu 37 22 37906309 37906314 + In_Frame_Del DEL CTCCTT CTCCTT - rs113275238 byCluster;by1000genomes TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 CTCCTT CTCCTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_014550.3 -1 reviewed p.KE272in_frame_del 0.939:0.949:0.957:0.963:0.966:0.967 - - - - - - - - - NULL ENSG00000184949 0 genome.wustl.edu 37 22 38993347 38993347 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea ENST00000355830 -1 known p.T465M 0.011 198 0.5% 230 33% 0 - benign(0.251) deleterious(0) deleterious(0.470) NULL GTPBP1 9567 genome.wustl.edu 37 22 39122094 39122094 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_004286.4 +1 reviewed p.R386H 1.000 196 0% 209 28.7% 28 21.4% possibly_damaging(0.839) tolerated(0.28) neutral(0.352) superfamily_SSF52540 MGAT3 4248 genome.wustl.edu 37 22 39883586 39883586 + Silent SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001098270.1 +1 reviewed p.S78 0.250 28 0% 22 31.8% 0 - - - - NULL SGSM3 27352 genome.wustl.edu 37 22 40803483 40803483 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_015705.4 +1 validated p.R479C 0.998 14 0% 11 63.6% 183 44.2% probably_damaging(0.995) deleterious(0) deleterious(0.902) superfamily_SH3-domain TEF 7008 genome.wustl.edu 37 22 41783395 41783395 + Silent SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea ENST00000413942 +1 known p.P32L 0.000 81 0% 101 43.6% 2 50% - - - NULL SCUBE1 80274 genome.wustl.edu 37 22 43603587 43603587 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_173050.2 -1 validated p.R923C 0.977 279 0% 221 34.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL KIAA0930 23313 genome.wustl.edu 37 22 45601152 45601152 + Missense_Mutation SNP C C A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_015264.1 -1 validated p.E159D 0.999 201 0% 222 34.7% 44 31.8% benign(0.184) tolerated(0.19) neutral(0.067) HMMPfam_DUF2045 SMC1B 27127 genome.wustl.edu 37 22 45809367 45809367 + Missense_Mutation SNP T T C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_148674.3 -1 validated p.T28A 1.000 40 0% 29 31% 0 - benign(0.349) deleterious(0.01) deleterious(0.516) HMMPfam_SMC_N,superfamily_SSF52540 NCAPH2 29781 genome.wustl.edu 37 22 50956004 50956004 + Splice_Site SNP A A G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_152299.3 +1 reviewed e4-2 1.000 85 0% 75 20% 2 100% - - - - SHANK3 85358 genome.wustl.edu 37 22 51113643 51113643 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001080420.1 +1 reviewed p.Y77* 1.000 3 0.000 7 0.571 1 100% - - - NULL XG 7499 genome.wustl.edu 37 X 2712615 2712615 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001141919.1 +1 reviewed p.P98L 0.639 69 0% 59 30.5% 52 44.2% possibly_damaging(0.931) deleterious(0) deleterious(0.822) NULL ARSD 414 genome.wustl.edu 37 X 2825573 2825573 + Silent SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001669.2 -1 reviewed p.G507 0.030 39 0% 40 40% 61 45.9% - - - HMMPfam_Sulfatase,superfamily_Alkaline phosphatase-like GEMIN8 54960 genome.wustl.edu 37 X 14038642 14038642 + Silent SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001042479.1 -1 reviewed p.S9 0.000 129 0% 143 32.2% 14 92.8% - - - NULL ACE2 59272 genome.wustl.edu 37 X 15599408 15599408 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_021804.2 -1 reviewed p.P336S 1.000 228 0% 256 22.7% 0 - possibly_damaging(0.562) deleterious(0.05) deleterious(0.537) "HMMPfam_Peptidase_M2,superfamily_Metalloproteases (""zincins"") catalytic domain" RAI2 10742 genome.wustl.edu 37 X 17819574 17819574 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_021785.4 -1 reviewed p.A186V 1.000 74 0% 75 25.3% 136 13.9% unknown(0) deleterious(0.02) - NULL GPR64 10149 genome.wustl.edu 37 X 19022950 19022950 + Silent SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001079858.2 -1 validated p.T629 0.637 247 0% 274 31.4% 0 - - - - HMMPfam_7tm_2,superfamily_Family A G protein-coupled receptor-like BCOR 54880 genome.wustl.edu 37 X 39932909 39932909 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001123385.1 -1 reviewed p.A564T 0.001 131 0% 130 33.1% 14 0% benign(0.15) deleterious(0.03) neutral(0.378) NULL ZNF182 7569 genome.wustl.edu 37 X 47836769 47836769 + Silent SNP A A G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_006962.1 -1 reviewed p.C239 1.000 227 0% 282 28.4% 3 0% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 LOC729275 729275 genome.wustl.edu 37 X 48434171 48434171 + RNA SNP A A G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea XR_078586.1 -1 model NULL 1.000 23 0% 21 28.6% 5 60% - - - - GRIPAP1 56850 genome.wustl.edu 37 X 48853699 48853699 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_020137.3 -1 reviewed p.R90H 0.999 243 0.4% 282 25.9% 29 0% probably_damaging(0.989) deleterious(0.02) deleterious(0.823) NULL CACNA1F 778 genome.wustl.edu 37 X 49061736 49061736 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_005183.2 -1 reviewed p.T1932M 0.988 77 0% 67 37.3% 2 100% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CACNA1F 778 genome.wustl.edu 37 X 49081242 49081242 + Missense_Mutation SNP T T C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_005183.2 -1 reviewed p.R631G 1.000 159 0% 152 33.6% 0 - possibly_damaging(0.847) deleterious(0) deleterious(0.770) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels LOC644310 644310 genome.wustl.edu 37 X 51666670 51666670 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea XM_927480.2 +1 model p.A8V 0.001 31 0% 45 26.7% 0 - - - - HMMPfam_UCR_UQCRX_QCR9,superfamily_Subunit X (non-heme 7 kDa protein) of cytochrome bc1 complex (Ubiquinol-cytochrome c reductase) SMC1A 8243 genome.wustl.edu 37 X 53432045 53432045 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_006306.2 -1 reviewed p.R699C 1.000 196 0% 180 38.3% 5 80% probably_damaging(0.994) deleterious(0.02) deleterious(0.835) HMMPfam_SMC_N,superfamily_SSF52540 HUWE1 10075 genome.wustl.edu 37 X 53561525 53561525 + Silent SNP A A G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea ENST00000427052 -1 known p.S3295P 1.000 392 0% 440 31.6% 161 0% - - - HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain FAM120C 54954 genome.wustl.edu 37 X 54143174 54143174 + Missense_Mutation SNP T T G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_017848.4 -1 validated p.T706P 1.000 262 0% 268 24.3% 2 50% possibly_damaging(0.513) tolerated(0.18) neutral(0.228) NULL ITIH6 347365 genome.wustl.edu 37 X 54815012 54815012 + Silent SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_198510.2 -1 reviewed p.P229 0.000 164 0% 184 25.5% 0 - - - - NULL HEPH 9843 genome.wustl.edu 37 X 65420521 65420521 + Missense_Mutation SNP G G T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_138737.3 +1 reviewed p.Q671H 0.111 249 0% 286 29.7% 12 0% benign(0.409) tolerated(0.2) neutral(0.181) superfamily_Cupredoxins STARD8 9754 genome.wustl.edu 37 X 67937819 67937819 + Missense_Mutation SNP T T C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001142503.2 +1 reviewed p.Y355H 1.000 69 0% 79 30.4% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL SLC16A2 6567 genome.wustl.edu 37 X 73744533 73744533 + Silent SNP T T C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_006517.3 +1 reviewed p.A379 0.995 197 0% 145 30.3% 1 0% - - - HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter APOOL 139322 genome.wustl.edu 37 X 84329026 84329026 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_198450.4 +1 validated p.A170V 1.000 329 0% 368 29.1% 8 0% benign(0.252) tolerated(0.28) neutral(0.057) HMMPfam_ApoO SATL1 340562 genome.wustl.edu 37 X 84349224 84349227 + Frame_Shift_Del DEL CAGT CAGT - novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 CAGT CAGT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001012980.2 -1 validated p.T408fs 0.001:0.000:0.000:0.000 - - - - - - - - - superfamily_Acyl_CoA_acyltransferase DACH2 117154 genome.wustl.edu 37 X 85994832 85994832 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_053281.3 +1 reviewed p.S396N 1.000 369 0.3% 299 29.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL PCDH11X 27328 genome.wustl.edu 37 X 91132014 91132014 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_032968.3 +1 reviewed p.P259S 1.000 358 0% 439 31.2% 0 - probably_damaging(1) tolerated(0.19) deleterious(0.549) HMMPfam_Cadherin,superfamily_Cadherin-like DIAPH2 1730 genome.wustl.edu 37 X 96136601 96136601 + Silent SNP T T C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_006729.4 +1 reviewed p.H157 1.000 309 0.3% 380 20% 0 - - - - HMMPfam_Drf_GBD GPRASP2 114928 genome.wustl.edu 37 X 101970123 101970123 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001004051.2 +1 reviewed p.R109H 0.266 63 0% 68 22.1% 2 100% probably_damaging(0.999) deleterious(0.04) deleterious(0.839) NULL RAB40A 142684 genome.wustl.edu 37 X 102755289 102755289 + Silent SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_080879.2 -1 reviewed p.F132 1.000 172 0% 157 22.3% 0 - - - - HMMSmart_RAB,HMMPfam_Ras,superfamily_SSF52540 NUP62CL 54830 genome.wustl.edu 37 X 106397376 106397376 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_017681.2 -1 validated p.A99T 1.000 305 0% 285 32.6% 5 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Nsp1_C COL4A6 1288 genome.wustl.edu 37 X 107402840 107402840 + Missense_Mutation SNP A A G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001847.2 -1 reviewed p.V1556A 1.000 191 0% 142 28.2% 1 100% probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_C4,HMMSmart_SM00111,superfamily_C-type lectin-like AMOT 154796 genome.wustl.edu 37 X 112034003 112034003 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001113490.1 -1 reviewed p.G645D 1.000 327 0.6% 336 31.8% 1 100% probably_damaging(0.998) tolerated(0.08) deleterious(0.774) NULL THOC2 57187 genome.wustl.edu 37 X 122866865 122866865 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001081550.1 -1 validated p.A3V 1.000 216 0% 176 35.8% 0 - benign(0.076) deleterious(0.03) neutral(0.370) NULL ODZ1 10178 genome.wustl.edu 37 X 123514605 123514605 + Silent SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_014253.3 -1 reviewed p.R2653 0.023 431 0% 416 38.2% 0 - - - - NULL ODZ1 10178 genome.wustl.edu 37 X 123515069 123515069 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_014253.3 -1 reviewed p.P2499S 1.000 224 0% 209 28.2% 0 - benign(0.003) tolerated(0.31) neutral(0.027) NULL AIFM1 9131 genome.wustl.edu 37 X 129263605 129263605 + Splice_Site SNP T T C novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_004208.3 -1 reviewed e16-2 0.998 575 0% 493 29.4% 1 0% - - - - SLC9A6 10479 genome.wustl.edu 37 X 135067942 135067942 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001042537.1 +1 reviewed p.R94H 1.000 113 0% 89 20.2% 3 0% probably_damaging(1) tolerated(0.4) deleterious(0.516) HMMPfam_Na_H_Exchanger GPR112 139378 genome.wustl.edu 37 X 135427082 135427082 + Missense_Mutation SNP C C A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_153834.3 +1 reviewed p.T406N 0.000 102 0% 110 24.5% 0 - benign(0.008) deleterious(0.01) neutral(0.406) NULL SLITRK2 84631 genome.wustl.edu 37 X 144904922 144904922 + Missense_Mutation SNP A A G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_001144003.2 +1 reviewed p.I327V 0.996 135 0% 109 28.4% 0 - benign(0.036) tolerated(0.29) neutral(0.031) NULL MIR508 574513 genome.wustl.edu 37 X 146318525 146318525 + RNA SNP A A G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea ENST00000384857 -1 known NULL 0.000 173 0% 155 29.7% 0 - - - - - MAGEA8 4107 genome.wustl.edu 37 X 149013295 149013295 + Silent SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_005364.4 +1 reviewed p.S83 0.002 86 0% 109 23.9% 83 0% - - - NULL PASD1 139135 genome.wustl.edu 37 X 150840979 150840979 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_173493.2 +1 reviewed p.Q588* 0.001 287 0% 313 32.3% 0 - - - - NULL PRRG3 79057 genome.wustl.edu 37 X 150869031 150869031 + Silent SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_024082.3 +1 validated p.S74 0.000 108 0% 82 31.7% 0 - - - - superfamily_VitK_dep_GLA GABRE 2564 genome.wustl.edu 37 X 151123557 151123557 + Splice_Site SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_004961.3 -1 reviewed e9-1 0.074 100 0% 90 27.8% 0 - - - - - GABRE 2564 genome.wustl.edu 37 X 151143051 151143052 + Frame_Shift_Ins INS - - G novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_004961.3 -1 reviewed p.L16fs 0.001:0.001 - - - - - - - - - NULL PNCK 139728 genome.wustl.edu 37 X 152936962 152936962 + Missense_Mutation SNP G G T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea ENST00000449157 -1 known p.L194M 0.002 91 0% 66 33.3% 3 0% - - - NULL ABCD1 215 genome.wustl.edu 37 X 152991071 152991071 + Missense_Mutation SNP G G T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_000033.3 +1 reviewed p.R117M 0.285 36 0% 22 45.5% 6 66.6% benign(0.124) deleterious(0.04) neutral(0.359) HMMPfam_ABC_membrane_2 ABCD1 215 genome.wustl.edu 37 X 152991286 152991286 + Missense_Mutation SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_000033.3 +1 reviewed p.R189W 0.988 81 0% 48 29.2% 6 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ABC_membrane_2 L1CAM 3897 genome.wustl.edu 37 X 153135530 153135530 + Silent SNP C C T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_000425.3 -1 reviewed p.A324 0.219 114 0% 110 21.8% 1 0% - - - HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin OPN1MW 2652 genome.wustl.edu 37 X 153459134 153459134 + Missense_Mutation SNP G G A novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea NM_000513.2 +1 reviewed p.R327Q 1.000 352 0.3% 428 30.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF81321 IL9R 3581 genome.wustl.edu 37 X 155230994 155230994 + Splice_Site SNP G G T novel TCGA-B5-A11H-01A-11D-A122-09 TCGA-B5-A11H-10B-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx accfc45b-eae0-4991-a488-e217cdb46655 644a1732-fea5-45ab-bd6c-96cffc4fc5ea ENST00000489233 +1 known NULL 0.000 248 0% 227 35.2% 0 - - - - -