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 CHD5 26038 genome.wustl.edu 37 1 6166347 6166347 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_015557.1 -1 provisional p.D1953A 1.000 75 0% 63 19% 0 - benign(0.001) tolerated(0.3) neutral(0.029) NULL CAMTA1 23261 genome.wustl.edu 37 1 7797393 7797393 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_015215.1 +1 validated p.D1141N 1.000 118 0% 114 21.9% 0 - probably_damaging(1) tolerated(0.13) deleterious(0.752) superfamily_Ankyrin repeat PER3 8863 genome.wustl.edu 37 1 7863904 7863904 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_016831.1 +1 reviewed p.R377* 0.997 394 0% 426 24.6% 6 16.6% - - - HMMSmart_PAC,superfamily_SSF55785 H6PD 9563 genome.wustl.edu 37 1 9324265 9324265 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_004285.3 +1 reviewed p.I571 0.012 23 0% 14 42.9% 7 14.2% - - - HMMPfam_Glucosamine_iso,superfamily_SSF100950 NMNAT1 64802 genome.wustl.edu 37 1 10035791 10035791 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_022787.3 +1 provisional p.E86A 1.000 177 0% 255 27.8% 9 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_CTP_transf_2,superfamily_Nucleotidylyl transferase MTOR 2475 genome.wustl.edu 37 1 11199684 11199684 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_004958.3 -1 reviewed p.K1635T 1.000 97 0% 111 23.4% 6 33.3% benign(0.01) deleterious(0) neutral(0.445) HMMPfam_FAT,superfamily_ARM-type_fold,superfamily_SSF48452 CLCN6 1185 genome.wustl.edu 37 1 11894579 11894579 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001286.2 +1 reviewed p.I575M 1.000 281 0% 261 11.5% 3 0% probably_damaging(0.969) deleterious(0.01) deleterious(0.817) superfamily_Clc chloride channel VPS13D 55187 genome.wustl.edu 37 1 12446285 12446285 + Nonsense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000011700 +1 known p.L2664* 1.000 378 0% 443 32.1% 9 22.2% benign(0.088) deleterious(0.01) neutral(0.412) NULL AADACL3 126767 genome.wustl.edu 37 1 12785535 12785535 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001103170.1 +1 validated p.V209I 0.000 261 0% 279 16.8% 0 - benign(0.157) tolerated(0.06) neutral(0.337) HMMPfam_Abhydrolase_3,superfamily_alpha/beta-Hydrolases DNAJC16 23341 genome.wustl.edu 37 1 15890512 15890512 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_015291.2 +1 provisional p.F476C 0.929 248 0% 249 23.3% 4 25% benign(0.384) tolerated(0.18) neutral(0.178) NULL SPEN 23013 genome.wustl.edu 37 1 16235856 16235856 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_015001.2 +1 reviewed p.R308* 0.996 303 0% 246 24% 5 40% - - - NULL SPEN 23013 genome.wustl.edu 37 1 16255694 16255694 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_015001.2 +1 reviewed p.R987C 1.000 71 0% 97 27.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL SPEN 23013 genome.wustl.edu 37 1 16259975 16259975 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_015001.2 +1 reviewed p.E2414* 0.055 249 0.4% 233 26.6% 10 40% - - - NULL UBR4 23352 genome.wustl.edu 37 1 19440525 19440525 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_020765.2 -1 validated p.R3748* 1.000 175 0% 161 29.8% 12 8.3% - - - superfamily_ARM repeat UBR4 23352 genome.wustl.edu 37 1 19451037 19451037 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_020765.2 -1 validated p.E3196K 1.000 350 0% 369 24.1% 7 42.8% possibly_damaging(0.794) deleterious(0.01) deleterious(0.704) superfamily_ARM repeat RNF186 54546 genome.wustl.edu 37 1 20141107 20141107 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_019062.1 -1 provisional p.A163V 0.085 73 0% 78 21.8% 0 - benign(0) tolerated(0.81) neutral(0.001) NULL ALPL 249 genome.wustl.edu 37 1 21887130 21887130 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_000478.4 +1 reviewed p.D25Y 1.000 106 0% 113 23.9% 25 12% possibly_damaging(0.757) deleterious(0) deleterious(0.724) superfamily_Alkaline_phosphatase_core CELA3A 10136 genome.wustl.edu 37 1 22336235 22336235 + Missense_Mutation SNP A A G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_005747.4 +1 reviewed p.D227G 0.862 149 0% 125 28% 0 - possibly_damaging(0.697) tolerated(0.08) deleterious(0.550) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases GRHL3 57822 genome.wustl.edu 37 1 24663050 24663050 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_021180.2 +1 reviewed p.E120D 0.998 100 0% 131 16% 3 66.6% benign(0.001) tolerated(0.48) neutral(0.011) NULL C1orf130 400746 genome.wustl.edu 37 1 24932108 24932108 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001010980.4 +1 validated p.T60M 0.002 56 0% 83 20.5% 1 100% benign(0.005) tolerated(0.12) neutral(0.261) NULL FGR 2268 genome.wustl.edu 37 1 27948081 27948081 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001042729.1 -1 reviewed p.I139 1.000 216 0% 231 23.8% 5 0% - - - superfamily_SH3,superfamily_SSF55550 PUM1 9698 genome.wustl.edu 37 1 31479913 31479913 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001020658.1 -1 reviewed p.E157* 1.000 559 0.2% 575 23.8% 10 10% - - - NULL NKAIN1 79570 genome.wustl.edu 37 1 31654734 31654734 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_024522.2 -1 validated p.S152L 1.000 42 0% 44 20.5% 0 - possibly_damaging(0.839) deleterious(0) deleterious(0.765) HMMPfam_NKAIN KPNA6 23633 genome.wustl.edu 37 1 32632805 32632805 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_012316.4 +1 reviewed p.I384 0.718 255 0% 361 15.2% 9 11.1% - - - HMMPfam_Arm,HMMSmart_SM00185,superfamily_ARM repeat LCK 3932 genome.wustl.edu 37 1 32741575 32741575 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001042771.1 +1 reviewed p.Y181S 1.000 163 0% 199 25.1% 30 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SH2,HMMSmart_SM00252,superfamily_SH2 domain YARS 8565 genome.wustl.edu 37 1 33272174 33272174 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_003680.3 -1 reviewed p.V140G 1.000 177 0% 151 35.8% 44 36.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_tRNA-synt_1b,superfamily_Nucleotidylyl transferase TRIM62 55223 genome.wustl.edu 37 1 33613098 33613098 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_018207.2 -1 validated p.E370K 1.000 17 0% 20 35% 1 0% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) HMMPfam_SPRY,HMMSmart_SM00449 PHC2 1912 genome.wustl.edu 37 1 33795722 33795722 + Splice_Site SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000307890 -1 known e10+1 0.979 324 0% 353 26.1% 63 30.1% probably_damaging(1) deleterious(0.01) deleterious(0.905) - PHC2 1912 genome.wustl.edu 37 1 33837988 33837988 + Missense_Mutation SNP A A G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_198040.2 -1 reviewed p.Y79H 1.000 54 0% 57 35.1% 2 50% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL C1orf94 84970 genome.wustl.edu 37 1 34667833 34667833 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001134734.1 +1 validated p.T473 0.043 364 0% 412 24% 0 - - - - NULL EIF2C3 192669 genome.wustl.edu 37 1 36505935 36505935 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_024852.2 +1 reviewed p.R689* 1.000 162 0% 212 32.5% 5 20% - - - HMMPfam_Piwi,superfamily_RNaseH_fold STK40 83931 genome.wustl.edu 37 1 36821017 36821017 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_032017.1 -1 provisional p.I120 0.142 178 0% 187 27.8% 23 17.3% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) RSPO1 284654 genome.wustl.edu 37 1 38079992 38079992 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001038633.2 -1 reviewed p.E100 0.967 66 0% 73 28.8% 1 0% - - - HMMSmart_SM00261,superfamily_Growth factor receptor domain SF3A3 10946 genome.wustl.edu 37 1 38453261 38453261 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_006802.2 -1 reviewed p.R96Q 1.000 208 1% 205 27.3% 14 14.2% benign(0.001) tolerated(0.08) neutral(0.300) NULL GJA9 81025 genome.wustl.edu 37 1 39340305 39340305 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_030772.3 -1 provisional p.N489T 0.231 169 0% 178 28.7% 0 - benign(0.273) deleterious(0) deleterious(0.474) NULL MACF1 23499 genome.wustl.edu 37 1 39827169 39827169 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000372925 +1 known p.R1269* 0.004 83 0% 74 27% 2 0% - - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat PABPC4 8761 genome.wustl.edu 37 1 40030888 40030888 + Missense_Mutation SNP T T C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001135653.1 -1 reviewed p.T379A 1.000 115 0% 134 23.1% 107 32.7% benign(0.04) tolerated(0.74) neutral(0.004) superfamily_SSF54928 RLF 6018 genome.wustl.edu 37 1 40668129 40668129 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_012421.3 +1 validated p.R218Q 1.000 257 0.4% 299 22.1% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ZMPSTE24 10269 genome.wustl.edu 37 1 40724018 40724018 + Silent SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_005857.3 +1 reviewed p.L25 0.957 126 0% 130 26.2% 7 71.4% - - - NULL SMAP2 64744 genome.wustl.edu 37 1 40839827 40839827 + Missense_Mutation SNP A A G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_022733.1 +1 provisional p.Y12C 1.000 105 0% 116 24.1% 13 30.7% probably_damaging(1) tolerated(0.34) deleterious(0.523) superfamily_Pyk2-associated protein beta ARF-GAP domain SMAP2 64744 genome.wustl.edu 37 1 40874359 40874359 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_022733.1 +1 provisional p.R91Q 1.000 284 0% 380 23.4% 30 30% probably_damaging(0.996) tolerated(0.4) deleterious(0.478) HMMPfam_ArfGap,HMMSmart_SM00105,superfamily_Pyk2-associated protein beta ARF-GAP domain ZNF643 65243 genome.wustl.edu 37 1 40919909 40919909 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000411995 +1 known p.A27V 0.004 30 0% 32 37.5% 0 - - - - NULL HIVEP3 59269 genome.wustl.edu 37 1 42046905 42046905 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_024503.3 -1 validated p.A1188 0.223 121 0% 230 31.3% 1 0% - - - NULL CCDC30 728621 genome.wustl.edu 37 1 43021926 43021926 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001080850.2 +1 validated p.Q175H 0.307 167 0% 346 15% 0 - probably_damaging(0.982) deleterious(0.02) deleterious(0.809) NULL CLDN19 149461 genome.wustl.edu 37 1 43201548 43201548 + Splice_Site SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_148960.2 -1 reviewed e4+1 1.000 51 0% 40 37.5% 0 - - - - - LEPRE1 64175 genome.wustl.edu 37 1 43212986 43212986 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_022356.3 -1 reviewed p.A671D 1.000 33 0% 33 30.3% 30 23.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_2OG-FeII_Oxy,HMMSmart_SM00702 ZSWIM5 57643 genome.wustl.edu 37 1 45484270 45484270 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_020883.1 -1 validated p.F1138L 1.000 434 0% 558 28.1% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL AKR1A1 10327 genome.wustl.edu 37 1 46034216 46034216 + Silent SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_006066.2 +1 reviewed p.G204 0.998 118 0% 151 19.2% 332 34.3% - - - HMMPfam_Aldo_ket_red,superfamily_NAD(P)-linked oxidoreductase TMEM69 51249 genome.wustl.edu 37 1 46159189 46159189 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_016486.3 +1 validated p.K119T 0.977 126 0% 135 21.5% 19 52.6% probably_damaging(0.991) tolerated(0.49) neutral(0.455) NULL PIK3R3 8503 genome.wustl.edu 37 1 46521530 46521530 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001114172.1 -1 validated p.K293T 1.000 621 0% 781 30.7% 21 33.3% probably_damaging(0.983) deleterious(0) deleterious(0.873) NULL ATPAF1 64756 genome.wustl.edu 37 1 47110890 47110890 + Silent SNP A A G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_022745.3 -1 reviewed p.F209 1.000 308 0% 401 22.7% 35 28.5% - - - HMMPfam_ATP11 ECHDC2 55268 genome.wustl.edu 37 1 53377301 53377301 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_018281.2 -1 validated p.R72W 0.682 91 0% 85 30.6% 27 51.8% probably_damaging(0.983) deleterious(0) deleterious(0.873) HMMPfam_ECH,superfamily_SSF52096 SCP2 6342 genome.wustl.edu 37 1 53443986 53443986 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_002979.3 +1 reviewed p.E258* 1.000 406 0% 435 22.5% 13 0% - - - NULL TMEM59 9528 genome.wustl.edu 37 1 54497845 54497845 + Missense_Mutation SNP T T A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_004872.3 -1 provisional p.N317I 0.998 279 0% 310 28.1% 397 45% probably_damaging(0.983) deleterious(0) deleterious(0.873) NULL OMA1 115209 genome.wustl.edu 37 1 59004633 59004633 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_145243.3 -1 provisional p.E112* 0.000 295 0% 297 23.6% 5 0% - - - NULL NFIA 4774 genome.wustl.edu 37 1 61554044 61554044 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001145512.1 +1 reviewed p.R129Q 1.000 109 0% 107 16.8% 3 66.6% possibly_damaging(0.627) tolerated(0.07) deleterious(0.537) HMMPfam_MH1,HMMSmart_SM00523 NFIA 4774 genome.wustl.edu 37 1 61554319 61554319 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001145512.1 +1 reviewed p.D221N 1.000 65 1.5% 98 22.4% 4 25% possibly_damaging(0.465) deleterious(0) deleterious(0.598) NULL L1TD1 54596 genome.wustl.edu 37 1 62676327 62676327 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_019079.4 +1 validated p.E627D 0.122 79 0% 125 21.6% 0 - benign(0.101) tolerated(0.92) neutral(0.007) NULL L1TD1 54596 genome.wustl.edu 37 1 62676427 62676427 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_019079.4 +1 validated p.E661* 0.000 85 0% 132 21.2% 0 - - - - HMMPfam_Transposase_22 L1TD1 54596 genome.wustl.edu 37 1 62676526 62676526 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_019079.4 +1 validated p.E694K 0.615 92 0% 151 29.1% 1 0% probably_damaging(0.991) deleterious(0.02) deleterious(0.827) HMMPfam_Transposase_22 KANK4 163782 genome.wustl.edu 37 1 62740728 62740728 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_181712.4 -1 validated p.E16D 1.000 145 0% 153 20.3% 0 - benign(0.074) tolerated(0.44) neutral(0.018) NULL DNAJC6 9829 genome.wustl.edu 37 1 65867528 65867528 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_014787.2 +1 validated p.Q674P 1.000 237 0% 293 23.2% 0 - possibly_damaging(0.836) tolerated(0.08) deleterious(0.619) NULL SGIP1 84251 genome.wustl.edu 37 1 67195044 67195044 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_032291.2 +1 validated p.R614W 1.000 320 0% 345 27.5% 3 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SAFF C1orf141 400757 genome.wustl.edu 37 1 67558934 67558934 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001013674.1 -1 predicted p.Q319H 0.088 239 0% 203 25.1% 0 - probably_damaging(0.981) deleterious(0) deleterious(0.870) NULL LRRC7 57554 genome.wustl.edu 37 1 70486792 70486792 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_020794.2 +1 validated p.E471K 1.000 180 0% 189 28% 0 - benign(0.025) tolerated(0.08) neutral(0.301) NULL ZRANB2 9406 genome.wustl.edu 37 1 71544351 71544351 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_203350.1 -1 validated p.R33* 0.998 189 0% 200 25.5% 25 32% - - - HMMPfam_zf-RanBP,HMMSmart_SM00547,PatternScan_ZF_RANBP2_1,superfamily_Znf265 first zinc-finger domain NEXN 91624 genome.wustl.edu 37 1 78395143 78395143 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000342754 +1 known p.E236* 1.000 251 0% 431 25.1% 2 50% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL LPHN2 23266 genome.wustl.edu 37 1 82408871 82408871 + Silent SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_012302.2 +1 reviewed p.R206 1.000 324 0% 501 29.1% 5 0% - - - HMMPfam_OLF,HMMSmart_SM00284 LPHN2 23266 genome.wustl.edu 37 1 82409309 82409309 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_012302.2 +1 reviewed p.E352* 1.000 200 0% 310 28.7% 3 0% - - - HMMPfam_OLF,HMMSmart_SM00284 SPATA1 100505741 genome.wustl.edu 37 1 84986370 84986370 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001081472.1 +1 validated p.L69I 1.000 224 0% 271 26.6% 0 - - - - NULL CYR61 3491 genome.wustl.edu 37 1 86048107 86048107 + Missense_Mutation SNP A A T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001554.4 +1 validated p.M215L 1.000 238 0% 294 25.5% 194 4.6% benign(0) tolerated(0.44) neutral(0.013) NULL CLCA4 22802 genome.wustl.edu 37 1 87045666 87045666 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_012128.3 +1 reviewed p.L800I 0.972 93 0% 116 29.3% 6 83.3% possibly_damaging(0.927) tolerated(0.23) neutral(0.416) NULL GBP2 2634 genome.wustl.edu 37 1 89585912 89585912 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_004120.3 -1 reviewed p.F126 0.991 493 0% 602 25.9% 150 31.3% - - - HMMPfam_GBP,superfamily_SSF52540 LRRC8D 55144 genome.wustl.edu 37 1 90399814 90399814 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001134479.1 +1 validated p.S396Y 1.000 208 0% 293 21.8% 7 42.8% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ZNF326 284695 genome.wustl.edu 37 1 90482992 90482992 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_182976.2 +1 validated p.K348T 1.000 210 0% 246 16.7% 5 20% probably_damaging(0.99) deleterious(0.01) deleterious(0.847) HMMPfam_AKAP95 CDC7 8317 genome.wustl.edu 37 1 91977351 91977351 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001134419.1 +1 reviewed p.S148Y 1.000 478 0% 483 26.9% 1 100% possibly_damaging(0.931) tolerated(0.08) deleterious(0.677) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase BRDT 676 genome.wustl.edu 37 1 92446296 92446296 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001726.3 +1 validated p.E462* 0.011 108 0% 199 26.6% 0 - - - - NULL KIAA1107 23285 genome.wustl.edu 37 1 92649740 92649740 + Silent SNP T T C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_015237.2 +1 validated p.G1306 0.990 144 0% 187 27.3% 2 0% - - - NULL C1orf146 388649 genome.wustl.edu 37 1 92709847 92709847 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001012425.1 +1 validated p.E78D 1.000 146 0% 138 26.8% 0 - possibly_damaging(0.791) deleterious(0) deleterious(0.741) NULL CNN3 1266 genome.wustl.edu 37 1 95392400 95392400 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001839.3 -1 validated p.K17N 1.000 95 0% 91 30.8% 66 25.7% possibly_damaging(0.869) tolerated(0.11) deleterious(0.609) superfamily_Calponin-homology domain CH-domain LPPR4 9890 genome.wustl.edu 37 1 99771731 99771731 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_014839.4 +1 reviewed p.S486L 0.759 94 0% 103 27.2% 0 - benign(0.323) deleterious(0.01) deleterious(0.507) NULL PALMD 54873 genome.wustl.edu 37 1 100159606 100159606 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_017734.4 +1 validated p.K548N 1.000 150 0% 157 14% 45 35.5% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL LRRC39 127495 genome.wustl.edu 37 1 100624847 100624847 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_144620.2 -1 provisional p.R115Q 1.000 302 0% 392 23.7% 1 0% probably_damaging(0.999) tolerated(0.07) deleterious(0.809) HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like DBT 1629 genome.wustl.edu 37 1 100684204 100684204 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001918.2 -1 reviewed p.R178H 1.000 362 0% 426 17.6% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_E3_binding,superfamily_Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex AMY2A 279 genome.wustl.edu 37 1 104166536 104166536 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_000699.2 +1 reviewed p.E384* 0.996 658 0% 825 16.7% 2 0% - - - HMMPfam_Alpha-amylase,HMMSmart_Aamy,superfamily_Glyco_hydro_cat LRIF1 55791 genome.wustl.edu 37 1 111494774 111494774 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_018372.3 -1 validated p.K244N 1.000 427 0% 401 28.2% 3 0% probably_damaging(0.999) deleterious(0.05) deleterious(0.836) NULL KCND3 3752 genome.wustl.edu 37 1 112323370 112323370 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_004980.3 -1 reviewed p.S438L 1.000 132 0% 131 17.6% 3 0% benign(0.045) deleterious(0.02) neutral(0.386) NULL FAM19A3 284467 genome.wustl.edu 37 1 113266618 113266618 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001004440.1 +1 reviewed p.R106H 0.021 70 0% 61 27.9% 1 0% benign(0.001) tolerated(0.37) neutral(0.019) NULL SLC16A1 6566 genome.wustl.edu 37 1 113460032 113460032 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_003051.3 -1 reviewed p.F332L 0.996 63 1.6% 100 28% 12 41.6% benign(0.033) tolerated(1) neutral(0.002) HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter PTPN22 26191 genome.wustl.edu 37 1 114399011 114399011 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_015967.4 -1 reviewed p.F178C 1.000 418 0% 462 24% 3 0% benign(0.313) deleterious(0.03) neutral(0.462) HMMPfam_Y_phosphatase,HMMSmart_PTPc,superfamily_SSF52799 NRAS 4893 genome.wustl.edu 37 1 115256486 115256486 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_002524.3 -1 reviewed p.G75 1.000 233 0% 294 26.5% 14 28.5% - - - HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases CSDE1 7812 genome.wustl.edu 37 1 115261263 115261263 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001130523.1 -1 validated p.R789C 1.000 203 0% 251 22.7% 440 37.9% probably_damaging(1) deleterious(0) deleterious(0.945) NULL GDAP2 54834 genome.wustl.edu 37 1 118461246 118461246 + Silent SNP A A G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_017686.3 -1 validated p.L97 1.000 231 0% 290 27.9% 3 66.6% - - - HMMPfam_Macro,HMMSmart_SM00506,superfamily_Macro domain-like SPAG17 200162 genome.wustl.edu 37 1 118634279 118634279 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_206996.2 -1 validated p.R437* 1.000 225 0% 298 27.9% 0 - - - - NULL HSD3B1 3283 genome.wustl.edu 37 1 120050216 120050216 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_000862.2 +1 validated p.F39 0.986 450 0.2% 499 25.7% 0 - - - - HMMPfam_3Beta_HSD,superfamily_NAD(P)-bd PDE4DIP 9659 genome.wustl.edu 37 1 144874727 144874727 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_014644.4 -1 validated p.S1627 1.000 416 0% 448 11.8% 2 0% - - - NULL SETDB1 9869 genome.wustl.edu 37 1 150931794 150931794 + Missense_Mutation SNP C C T rs2691551 byCluster TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001145415.1 +1 reviewed p.A824V 1.000 547 0% 593 28.7% 4 0% probably_damaging(0.987) tolerated(0.07) deleterious(0.756) HMMPfam_SET,HMMSmart_SM00317,superfamily_SET domain CELF3 11189 genome.wustl.edu 37 1 151677566 151677566 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_007185.4 -1 reviewed p.R450H 1.000 146 0% 94 27.7% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD NPR1 4881 genome.wustl.edu 37 1 153665653 153665653 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_000906.3 +1 validated p.R1035* 1.000 247 0% 292 29.1% 9 33.3% - - - HMMPfam_Guanylate_cyc,superfamily_Adenylyl and guanylyl cyclase catalytic domain DCST2 127579 genome.wustl.edu 37 1 155006114 155006114 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_144622.2 -1 validated p.A22T 0.052 71 0% 74 40.5% 0 - benign(0.022) tolerated(0.64) neutral(0.004) NULL TRIM46 80128 genome.wustl.edu 37 1 155156517 155156517 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_025058.3 +1 validated p.R711S 0.998 297 0% 205 19.5% 0 - probably_damaging(0.967) deleterious(0.01) deleterious(0.815) NULL LOC100129268 100129268 genome.wustl.edu 37 1 155170588 155170588 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 XM_001724971.2 +1 model p.I90M 0.000 212 0% 178 13.5% 0 - - - - NULL ASH1L 55870 genome.wustl.edu 37 1 155450468 155450468 + Silent SNP T T C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_018489.2 -1 reviewed p.P731 0.998 220 0% 184 25.5% 3 33.3% - - - NULL DAP3 7818 genome.wustl.edu 37 1 155697418 155697418 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_004632.2 +1 reviewed p.N164K 1.000 291 0% 294 23.1% 51 31.3% probably_damaging(0.999) tolerated(0.12) deleterious(0.751) HMMPfam_DAP3 GON4L 54856 genome.wustl.edu 37 1 155774895 155774895 + Missense_Mutation SNP G G T rs59332147 TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001037533.1 -1 validated p.S497Y 1.000 293 0% 283 23% 4 25% probably_damaging(1) deleterious(0) deleterious(0.945) NULL C1orf85 112770 genome.wustl.edu 37 1 156264275 156264275 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_144580.1 -1 provisional p.D154N 0.012 172 0% 199 21.1% 21 9.5% benign(0) tolerated(0.52) neutral(0.009) NULL IQGAP3 128239 genome.wustl.edu 37 1 156534457 156534457 + Silent SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_178229.4 -1 validated p.I129 0.999 347 0% 336 16.1% 0 - - - - HMMPfam_CH,HMMSmart_CH,superfamily_Calponin-homology NES 10763 genome.wustl.edu 37 1 156639211 156639211 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_006617.1 -1 reviewed p.S1590Y 0.006 93 0% 66 16.7% 13 7.6% possibly_damaging(0.708) deleterious(0) deleterious(0.700) NULL NES 10763 genome.wustl.edu 37 1 156642854 156642854 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_006617.1 -1 reviewed p.E376* 0.988 114 0% 265 17% 22 0% - - - NULL FCRL2 79368 genome.wustl.edu 37 1 157740422 157740422 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_030764.3 -1 reviewed p.F29 0.734 158 0% 134 16.4% 1 0% - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin OR10K2 391107 genome.wustl.edu 37 1 158390486 158390486 + Silent SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001004476.1 -1 provisional p.I57 0.824 277 0% 354 26% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 SPTA1 6708 genome.wustl.edu 37 1 158617442 158617442 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_003126.2 -1 reviewed p.Q1261H 0.998 214 0% 261 19.2% 0 - benign(0.001) tolerated(0.51) neutral(0.009) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat SPTA1 6708 genome.wustl.edu 37 1 158644356 158644356 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_003126.2 -1 reviewed p.L408M 1.000 152 0% 143 21% 0 - probably_damaging(0.995) tolerated(0.1) deleterious(0.744) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat OR6K2 81448 genome.wustl.edu 37 1 158669673 158669673 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001005279.1 -1 provisional p.T257I 0.751 284 0% 368 25% 0 - benign(0.102) tolerated(0.91) neutral(0.008) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like MNDA 4332 genome.wustl.edu 37 1 158812196 158812196 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_002432.1 +1 reviewed p.E85* 0.000 127 0% 204 22.5% 4 0% - - - NULL CASQ1 844 genome.wustl.edu 37 1 160162630 160162630 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001231.4 +1 reviewed p.F100 0.974 216 0% 263 27.8% 0 - - - - HMMPfam_Calsequestrin,superfamily_Thiordxn-like_fd LY9 4063 genome.wustl.edu 37 1 160783590 160783590 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_002348.2 +1 validated p.L207I 0.343 120 0% 110 36.4% 7 0% probably_damaging(0.989) deleterious(0.03) deleterious(0.804) superfamily_Immunoglobulin NOS1AP 9722 genome.wustl.edu 37 1 162335186 162335186 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001126060.1 +1 reviewed p.S16Y 0.001 147 0% 234 24.4% 0 - unknown(0) tolerated(0.6) - NULL DUSP27 92235 genome.wustl.edu 37 1 167097079 167097079 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001080426.1 +1 provisional p.S904F 0.703 199 0% 265 24.9% 0 - benign(0.005) tolerated(0.12) neutral(0.261) NULL DCAF6 55827 genome.wustl.edu 37 1 168007704 168007704 + Nonsense_Mutation SNP A A T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_018442.2 +1 validated p.K512* 1.000 172 0% 245 26.9% 25 0% - - - superfamily_WD40_like ATP1B1 481 genome.wustl.edu 37 1 169100621 169100621 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001677.3 +1 reviewed p.G247D 1.000 266 0% 287 22% 299 47.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Na_K-ATPase METTL13 51603 genome.wustl.edu 37 1 171751124 171751124 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_015935.4 +1 validated p.K6T 0.909 190 0% 242 27.7% 8 37.5% possibly_damaging(0.712) deleterious(0.01) deleterious(0.663) NULL DNM3 26052 genome.wustl.edu 37 1 172037975 172037975 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_015569.3 +1 validated p.R451I 1.000 247 0% 278 28.1% 1 0% possibly_damaging(0.44) deleterious(0) deleterious(0.588) HMMPfam_Dynamin_M DARS2 55157 genome.wustl.edu 37 1 173826729 173826729 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_018122.4 +1 reviewed p.F608 1.000 234 0% 268 25.7% 16 37.5% - - - HMMPfam_tRNA-synt_2,superfamily_SSF55681 RC3H1 149041 genome.wustl.edu 37 1 173952691 173952691 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_172071.2 -1 validated p.R153C 1.000 202 0% 227 26.4% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL GPR52 9293 genome.wustl.edu 37 1 174418235 174418235 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_005684.4 +1 validated p.R329Q 1.000 108 0% 111 31.5% 0 - possibly_damaging(0.623) tolerated(0.24) neutral(0.255) superfamily_SSF81321 TNN 63923 genome.wustl.edu 37 1 175049488 175049488 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_022093.1 +1 validated p.T325I 1.000 162 0% 167 16.8% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III TNR 7143 genome.wustl.edu 37 1 175331827 175331827 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_003285.2 -1 validated p.S942 0.996 323 0% 339 18.6% 0 - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III RALGPS2 55103 genome.wustl.edu 37 1 178866849 178866849 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_152663.3 +1 validated p.F494L 1.000 391 0% 434 20.7% 4 0% benign(0.025) tolerated(0.97) neutral(0.001) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like QSOX1 5768 genome.wustl.edu 37 1 180151338 180151338 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_002826.4 +1 reviewed p.G212 0.019 185 0% 147 22.4% 65 49.2% - - - NULL LHX4 89884 genome.wustl.edu 37 1 180240545 180240545 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_033343.2 +1 reviewed p.R161Q 1.000 106 0% 102 28.4% 3 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like XPR1 9213 genome.wustl.edu 37 1 180794046 180794046 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_004736.3 +1 validated p.P307 0.905 422 0% 459 24.4% 10 30% - - - HMMPfam_EXS LOC100287984 100287984 genome.wustl.edu 37 1 181453006 181453006 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 XM_002342125.1 -1 model p.R51C 1.000 48 0% 36 27.8% 0 - - - - NULL CACNA1E 777 genome.wustl.edu 37 1 181726111 181726111 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_000721.2 +1 reviewed p.R1393H 1.000 438 0% 477 31% 0 - benign(0.05) tolerated(0.17) neutral(0.062) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels RNASEL 6041 genome.wustl.edu 37 1 182555478 182555478 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_021133.2 -1 reviewed p.R155Q 0.029 221 0% 221 23.5% 1 100% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Ank,superfamily_Ankyrin repeat PRG4 10216 genome.wustl.edu 37 1 186270819 186270819 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_005807.3 +1 reviewed p.D99N 1.000 247 0% 333 26.4% 0 - unknown(0) - - HMMPfam_Somatomedin_B,HMMSmart_SM00201,PatternScan_SMB_1,superfamily_Somatomedin B domain RGS1 5996 genome.wustl.edu 37 1 192548339 192548339 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_002922.3 +1 reviewed p.E173* 1.000 238 0% 265 25.3% 377 0% - - - HMMPfam_RGS,HMMSmart_SM00315,superfamily_Regulator of G-protein signaling RGS F13B 2165 genome.wustl.edu 37 1 197021872 197021872 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001994.2 -1 reviewed p.D483Y 1.000 321 0% 360 25.6% 0 - probably_damaging(0.999) deleterious(0.04) deleterious(0.839) superfamily_Complement_control_module ASPM 259266 genome.wustl.edu 37 1 197060162 197060162 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_018136.4 -1 reviewed p.R3152* 1.000 230 0% 202 30.2% 3 0% - - - HMMSmart_SM00015,superfamily_P-loop containing nucleoside triphosphate hydrolases ASPM 259266 genome.wustl.edu 37 1 197073877 197073877 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_018136.4 -1 reviewed p.Q1502K 0.835 378 0% 360 13.9% 1 0% benign(0.096) tolerated(0.28) neutral(0.038) HMMPfam_IQ,HMMSmart_SM00015,superfamily_P-loop containing nucleoside triphosphate hydrolases CRB1 23418 genome.wustl.edu 37 1 197390934 197390934 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_201253.1 +1 reviewed p.S659L 0.008 171 0% 203 31% 0 - benign(0.056) tolerated(0.32) neutral(0.028) superfamily_Concanavalin A-like lectins/glucanases KIF14 9928 genome.wustl.edu 37 1 200571027 200571027 + Missense_Mutation SNP T T C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_014875.2 -1 validated p.R717G 0.996 282 0% 326 30.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL IGFN1 91156 genome.wustl.edu 37 1 201169470 201169470 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000451870 +1 known p.I188 0.997 104 0% 134 24.6% 0 - - - - NULL IGFN1 91156 genome.wustl.edu 37 1 201191935 201191935 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000451870 +1 known p.R967C 0.127 148 0% 170 28.8% 0 - probably_damaging(1) tolerated(0.12) deleterious(0.760) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin IPO9 55705 genome.wustl.edu 37 1 201840427 201840427 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_018085.4 +1 validated p.F850V 1.000 161 0% 194 28.9% 26 42.3% benign(0.054) deleterious(0) neutral(0.448) superfamily_ARM repeat LGR6 59352 genome.wustl.edu 37 1 202194576 202194576 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001017403.1 +1 reviewed p.E80K 0.998 190 0% 160 26.3% 0 - benign(0.006) tolerated(0.67) neutral(0.003) HMMSmart_SM00369,superfamily_RNI-like ADIPOR1 51094 genome.wustl.edu 37 1 202914293 202914293 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001127687.1 -1 validated p.F145 0.737 100 0% 116 22.4% 91 35.1% - - - HMMPfam_HlyIII ADORA1 134 genome.wustl.edu 37 1 203134743 203134743 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_000674.2 +1 reviewed p.I232 0.988 291 0.3% 325 24.3% 3 0% - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like CHI3L1 1116 genome.wustl.edu 37 1 203150406 203150406 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001276.2 -1 reviewed p.D199N 1.000 192 0% 205 20% 39 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Glyco_hydro_18,HMMSmart_Glyco_18,superfamily_Glyco_hydro_cat FAM72A 729533 genome.wustl.edu 37 1 206141509 206141509 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001123168.1 +1 predicted p.I72 0.949 1075 0.1% 1167 9.3% 1 0% - - - NULL C4BPA 722 genome.wustl.edu 37 1 207314519 207314519 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_000715.3 +1 reviewed p.E448* 0.000 367 0% 353 22.1% 3 0% - - - HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain CR1 1378 genome.wustl.edu 37 1 207741267 207741267 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_000651.4 +1 reviewed p.D1351N 0.004 865 0% 782 13.4% 0 - probably_damaging(0.996) tolerated(1) neutral(0.462) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain SYT14 255928 genome.wustl.edu 37 1 210273708 210273708 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_153262.2 +1 validated p.E356* 1.000 89 0% 90 21.1% 0 - - - - HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) HHAT 55733 genome.wustl.edu 37 1 210591588 210591588 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001122834.2 +1 validated p.E259K 0.993 137 0% 116 34.5% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MBOAT PPP2R5A 5525 genome.wustl.edu 37 1 212515555 212515555 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_006243.2 +1 reviewed p.F169C 1.000 492 0% 633 18.5% 22 22.7% possibly_damaging(0.848) deleterious(0) deleterious(0.770) HMMPfam_B56,superfamily_ARM repeat CENPF 1063 genome.wustl.edu 37 1 214794125 214794125 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_016343.3 +1 reviewed p.R234I 0.389 149 0% 203 19.7% 0 - possibly_damaging(0.462) deleterious(0.03) deleterious(0.516) HMMPfam_Cenp-F_N CENPF 1063 genome.wustl.edu 37 1 214819105 214819105 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_016343.3 +1 reviewed p.E2064 1.000 39 0% 33 27.3% 3 66.6% - - - NULL CENPF 1063 genome.wustl.edu 37 1 214819405 214819405 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_016343.3 +1 reviewed p.Q2164 1.000 37 0% 37 21.6% 0 - - - - HMMPfam_Cenp-F_leu_zip ESRRG 2104 genome.wustl.edu 37 1 216680401 216680401 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001438.2 -1 validated p.M419I 1.000 237 0% 224 30.8% 0 - benign(0.008) deleterious(0.03) neutral(0.364) HMMPfam_Hormone_recep,HMMSmart_SM00430,superfamily_Nuclear receptor ligand-binding domain RAB3GAP2 25782 genome.wustl.edu 37 1 220340695 220340695 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_012414.3 -1 reviewed p.L1009 0.000 279 0% 355 26.5% 5 0% - - - NULL RAB3GAP2 25782 genome.wustl.edu 37 1 220364576 220364576 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_012414.3 -1 reviewed p.E441* 1.000 148 0% 219 23.3% 2 50% - - - NULL COG2 22796 genome.wustl.edu 37 1 230795218 230795218 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_007357.2 +1 reviewed p.F27L 0.995 193 0% 155 12.3% 6 16.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_COG2 DISC1 27185 genome.wustl.edu 37 1 232094625 232094625 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_018662.2 +1 reviewed p.K678T 0.406 442 0% 521 32.6% 1 0% benign(0.244) deleterious(0.02) neutral(0.408) NULL SIPA1L2 57568 genome.wustl.edu 37 1 232539208 232539208 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_020808.3 -1 validated p.F1642L 1.000 84 0% 109 29.4% 5 20% benign(0.001) tolerated(0.72) neutral(0.002) NULL SIPA1L2 57568 genome.wustl.edu 37 1 232600771 232600771 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_020808.3 -1 validated p.E879* 1.000 167 0% 168 23.8% 2 0% - - - NULL PCNXL2 80003 genome.wustl.edu 37 1 233394223 233394223 + Missense_Mutation SNP A A G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_014801.3 -1 provisional p.V462A 0.000 157 0% 123 23.6% 3 33.3% benign(0) tolerated(0.33) neutral(0.024) NULL TBCE 6905 genome.wustl.edu 37 1 235602124 235602124 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001079515.1 +1 reviewed p.R386Q 0.027 190 0.5% 289 21.8% 14 35.7% benign(0.004) tolerated(0.07) neutral(0.319) superfamily_SSF52047 RYR2 6262 genome.wustl.edu 37 1 237872858 237872858 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001035.2 +1 reviewed p.S3407 0.299 231 0% 240 29.2% 0 - - - - NULL RGS7 6000 genome.wustl.edu 37 1 240964768 240964768 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_002924.4 -1 validated p.F467C 1.000 267 0% 370 30.5% 0 - possibly_damaging(0.502) deleterious(0.01) deleterious(0.573) NULL KMO 8564 genome.wustl.edu 37 1 241725555 241725555 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_003679.3 +1 validated p.K180Q 0.999 323 0% 403 29% 3 0% benign(0.002) tolerated(0.65) neutral(0.003) superfamily_FAD/NAD(P)-binding domain EXO1 9156 genome.wustl.edu 37 1 242042228 242042228 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_006027.4 +1 reviewed p.P564 0.001 255 0.4% 330 28.5% 0 - - - - NULL SDCCAG8 10806 genome.wustl.edu 37 1 243493905 243493905 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_006642.2 +1 validated p.E378* 1.000 114 0% 170 30.6% 4 25% - - - NULL AKT3 10000 genome.wustl.edu 37 1 243708871 243708871 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_005465.3 -1 reviewed p.E398* 1.000 334 0% 389 15.2% 2 0% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase HNRNPU 3192 genome.wustl.edu 37 1 245025940 245025940 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_031844.2 -1 reviewed p.E262* 1.000 660 0.2% 655 19.1% 40 2.5% - - - NULL CNST 163882 genome.wustl.edu 37 1 246810896 246810896 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_152609.2 +1 validated p.R465W 0.000 103 0% 120 28.3% 6 66.6% probably_damaging(0.996) deleterious(0.02) deleterious(0.845) NULL AHCTF1 25909 genome.wustl.edu 37 1 247004125 247004125 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_015446.4 -1 validated p.R2262C 1.000 330 0% 306 16.7% 7 42.8% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ZNF695 57116 genome.wustl.edu 37 1 247150323 247150323 + Silent SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_020394.3 -1 validated p.G498 0.841 552 0% 634 31.4% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers NLRP3 114548 genome.wustl.edu 37 1 247588687 247588687 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001079821.2 +1 reviewed p.D648Y 0.484 165 0% 161 24.2% 2 0% benign(0.223) tolerated(0.07) neutral(0.341) NULL OR2M2 391194 genome.wustl.edu 37 1 248343627 248343627 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001004688.1 +1 provisional p.L114I 0.000 594 0% 535 24.5% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 OR2G6 391211 genome.wustl.edu 37 1 248685642 248685642 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001013355.1 +1 validated p.A232V 0.000 319 0% 258 26.7% 0 - benign(0.001) tolerated(0.06) neutral(0.323) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like PXDN 7837 genome.wustl.edu 37 2 1652405 1652405 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_012293.1 -1 validated p.E1049 0.104 76 0% 76 14.5% 8 0% - - - HMMPfam_An_peroxidase,superfamily_Heme-dependent peroxidases ROCK2 9475 genome.wustl.edu 37 2 11334416 11334416 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_004850.3 -1 reviewed p.E1192* 1.000 315 0% 383 27.7% 4 0% - - - HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like WDR35 57539 genome.wustl.edu 37 2 20169254 20169254 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001006657.1 -1 reviewed p.R332Q 1.000 237 0% 231 22.9% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_WD40 repeat-like PUM2 23369 genome.wustl.edu 37 2 20458047 20458047 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_015317.1 -1 provisional p.R814H 1.000 154 0% 176 34.1% 22 31.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PUF,HMMSmart_SM00025,superfamily_ARM repeat APOB 338 genome.wustl.edu 37 2 21230434 21230434 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_000384.2 -1 reviewed p.F3102L 0.998 268 0% 266 24.4% 0 - probably_damaging(0.982) - - NULL KLHL29 114818 genome.wustl.edu 37 2 23785090 23785090 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000486442 +1 known p.F8 0.997 22 0% 23 34.8% 0 - - - - NULL DNAJC27 51277 genome.wustl.edu 37 2 25180016 25180016 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_016544.1 -1 provisional p.R142C 1.000 309 0% 297 27.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases CCDC164 92749 genome.wustl.edu 37 2 26663299 26663299 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_145038.2 +1 validated p.E314D 1.000 132 0% 204 22.5% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL TRIM54 57159 genome.wustl.edu 37 2 27528492 27528492 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_032546.2 +1 reviewed p.F259C 1.000 54 1.9% 43 27.9% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL C2orf16 84226 genome.wustl.edu 37 2 27799865 27799865 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_032266.3 +1 validated p.Q142H 0.015 94 0% 82 23.2% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL ZNF512 84450 genome.wustl.edu 37 2 27844103 27844103 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_032434.2 +1 validated p.K493 1.000 121 0% 102 36.3% 7 14.2% - - - NULL CCDC121 79635 genome.wustl.edu 37 2 27850684 27850684 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001142683.2 -1 validated p.E157* 0.001 340 0% 339 13.9% 4 0% - - - NULL GPN1 11321 genome.wustl.edu 37 2 27853899 27853899 + Missense_Mutation SNP C C A rs183551437 by1000genomes TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_007266.3 +1 reviewed p.R85S 1.000 452 0% 538 23.8% 8 12.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_AAA,HMMPfam_ATP_bind_1,superfamily_SSF52540 SPDYA 245711 genome.wustl.edu 37 2 29052172 29052172 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001142634.1 +1 validated p.R180Q 1.000 158 0% 166 19.3% 0 - benign(0.027) tolerated(0.26) neutral(0.036) NULL CLIP4 79745 genome.wustl.edu 37 2 29356672 29356672 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_024692.4 +1 validated p.S173 0.216 268 0% 282 24.8% 2 50% - - - HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat NLRC4 58484 genome.wustl.edu 37 2 32475709 32475709 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000360906 -1 known p.F408 0.038 102 0% 111 32.4% 2 0% - - - NULL TTC27 55622 genome.wustl.edu 37 2 32855714 32855714 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_017735.3 +1 provisional p.E71D 1.000 140 0% 200 17% 6 83.3% possibly_damaging(0.712) tolerated(0.15) deleterious(0.498) NULL VIT 5212 genome.wustl.edu 37 2 36970287 36970287 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_053276.3 +1 validated p.D55N 1.000 283 0% 306 26.1% 0 - benign(0) tolerated(1) - HMMPfam_LCCL,HMMSmart_LCCL,superfamily_LCCL SULT6B1 391365 genome.wustl.edu 37 2 37410583 37410583 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001032377.1 -1 provisional p.F91 0.734 224 0% 272 24.3% 0 - - - - HMMPfam_Sulfotransfer_1,superfamily_P-loop containing nucleoside triphosphate hydrolases PPM1B 5495 genome.wustl.edu 37 2 44445689 44445689 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000409486 +1 known p.L383V 0.965 183 0% 220 23.6% 0 - - - - NULL MSH2 4436 genome.wustl.edu 37 2 47693887 47693887 + Frame_Shift_Del DEL G G - novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_000251.1 +1 reviewed p.R534fs 1.000 - - - - - - - - - HMMPfam_MutS_III,HMMSmart_MUTSd,superfamily_DNA_repair_MutS_domIII,HMMPfam_MutS_IV EML6 400954 genome.wustl.edu 37 2 55130303 55130303 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001039753.2 +1 validated p.E1083* 1.000 209 0% 238 14.7% 0 - - - - HMMSmart_SM00320,superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase,superfamily_WD40 repeat-like,HMMPfam_WD40 C2orf63 130162 genome.wustl.edu 37 2 55403066 55403066 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_152385.2 -1 validated p.E541* 0.980 365 0.3% 389 30.3% 2 50% - - - NULL C2orf63 130162 genome.wustl.edu 37 2 55445026 55445026 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_152385.2 -1 validated p.H96N 1.000 425 0% 496 21.6% 0 - possibly_damaging(0.925) tolerated(0.12) deleterious(0.634) NULL MTIF2 4528 genome.wustl.edu 37 2 55479759 55479759 + Missense_Mutation SNP A A T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001005369.1 -1 reviewed p.F232Y 1.000 116 0% 184 30.4% 16 37.5% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_GTP_EFTU,superfamily_SSF52540 CCDC85A 114800 genome.wustl.edu 37 2 56611447 56611447 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001080433.1 +1 provisional p.I540S 1.000 263 0% 370 25.7% 0 - possibly_damaging(0.85) deleterious(0) deleterious(0.772) NULL BCL11A 53335 genome.wustl.edu 37 2 60679729 60679729 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_138559.1 -1 reviewed p.R235* 1.000 189 0% 169 23.1% 1 100% - - - NULL REL 5966 genome.wustl.edu 37 2 61149264 61149264 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_002908.2 +1 validated p.I485S 1.000 212 0% 209 25.4% 1 0% benign(0.138) tolerated(0.2) neutral(0.060) NULL XPO1 7514 genome.wustl.edu 37 2 61719472 61719472 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_003400.3 -1 reviewed p.E571K 1.000 165 0% 216 31% 21 28.5% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ARM-type_fold ADD2 119 genome.wustl.edu 37 2 70900081 70900081 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001617.3 -1 reviewed p.S600F 1.000 89 0% 73 17.8% 0 - probably_damaging(0.995) deleterious(0.01) deleterious(0.863) NULL CLEC4F 165530 genome.wustl.edu 37 2 71043873 71043873 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_173535.2 -1 validated p.V214M 0.000 357 0% 319 30.4% 0 - benign(0.004) tolerated(0.39) neutral(0.016) NULL ATP6V1B1 525 genome.wustl.edu 37 2 71190373 71190373 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001692.3 +1 reviewed p.R331W 1.000 54 0% 51 29.4% 3 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ATP-synt_ab,superfamily_SSF52540 MPHOSPH10 10199 genome.wustl.edu 37 2 71365755 71365755 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_005791.1 +1 reviewed p.R412W 0.874 66 0% 78 11.5% 38 26.3% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Mpp10 MPHOSPH10 10199 genome.wustl.edu 37 2 71376377 71376377 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_005791.1 +1 reviewed p.K564Q 1.000 124 0% 141 24.1% 37 37.8% possibly_damaging(0.938) deleterious(0.03) deleterious(0.748) HMMPfam_Mpp10 RAB11FIP5 26056 genome.wustl.edu 37 2 73316058 73316058 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_015470.2 -1 validated p.E273K 0.962 28 0% 37 29.7% 7 42.8% benign(0.033) tolerated(0.84) neutral(0.002) NULL STAMBP 10617 genome.wustl.edu 37 2 74071968 74071968 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_006463.3 +1 reviewed p.R78* 1.000 200 0% 234 21.4% 8 25% - - - NULL MOGS 7841 genome.wustl.edu 37 2 74689130 74689130 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_006302.2 -1 reviewed p.R596W 1.000 144 0.7% 154 25.3% 67 31.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Glyco_hydro_63,superfamily_Six-hairpin glycosidases TCF7L1 83439 genome.wustl.edu 37 2 85529609 85529609 + Silent SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_031283.1 +1 provisional p.S176 0.970 143 0% 131 25.2% 4 0% - - - HMMPfam_CTNNB1_binding RETSAT 54884 genome.wustl.edu 37 2 85570426 85570426 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_017750.3 -1 validated p.N591T 0.970 265 0% 310 16.1% 37 35.1% probably_damaging(0.969) tolerated(0.09) deleterious(0.708) NULL SFTPB 6439 genome.wustl.edu 37 2 85890544 85890544 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000428225 -1 known p.R302W 0.062 62 0% 46 28.3% 0 - - - - HMMSmart_SM00741,superfamily_Saposin REEP1 65055 genome.wustl.edu 37 2 86481928 86481928 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_022912.2 -1 reviewed p.F64L 1.000 217 0% 295 15.3% 0 - benign(0.035) tolerated(0.4) neutral(0.018) HMMPfam_TB2_DP1_HVA22 RNF103 7844 genome.wustl.edu 37 2 86847538 86847538 + Missense_Mutation SNP T T C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_005667.2 -1 reviewed p.E94G 1.000 261 0% 241 27% 16 37.5% benign(0.001) tolerated(0.12) neutral(0.261) NULL EIF2AK3 9451 genome.wustl.edu 37 2 88890033 88890033 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_004836.5 -1 reviewed p.D365Y 0.000 274 0% 344 16.3% 0 - possibly_damaging(0.463) deleterious(0.04) deleterious(0.501) superfamily_Quinoprotein alcohol dehydrogenase-like FAHD2A 51011 genome.wustl.edu 37 2 96078673 96078673 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_016044.2 +1 validated p.E305* 0.998 326 0% 325 26.2% 23 21.7% - - - HMMPfam_FAA_hydrolase,superfamily_Fumarylacetoacetase_C-rel SNRNP200 23020 genome.wustl.edu 37 2 96950164 96950164 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_014014.3 -1 reviewed p.R1442C 1.000 176 0.6% 183 27.9% 62 43.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DEAD,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases ITPRIPL1 150771 genome.wustl.edu 37 2 96992374 96992374 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_178495.5 +1 validated p.S10Y 0.982 174 0% 143 28% 0 - probably_damaging(0.988) deleterious(0) deleterious(0.882) NULL ANKRD36 375248 genome.wustl.edu 37 2 97871858 97871858 + Missense_Mutation SNP A A G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000461153 +1 known p.E880G 0.004 360 0% 381 27.8% 2 100% benign(0.043) deleterious(0.03) neutral(0.367) NULL UBTFL6 643615 genome.wustl.edu 37 2 98253817 98253817 + Missense_Mutation SNP T T C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 XM_001714896.2 -1 model p.Y145C 1.000 90 0% 82 37.8% 0 - - - - HMMPfam_HMG_box,HMMSmart_SM00398,superfamily_HMG-box ACTR1B 10120 genome.wustl.edu 37 2 98274445 98274445 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_005735.3 -1 reviewed p.A296T 0.960 56 0% 51 25.5% 65 49.2% benign(0) tolerated(0.11) neutral(0.272) HMMPfam_Actin,HMMSmart_ACTIN,superfamily_SSF53067 TMEM131 23505 genome.wustl.edu 37 2 98543924 98543924 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_015348.1 -1 validated p.E72* 1.000 192 0% 291 22.3% 3 0% - - - NULL TSGA10 80705 genome.wustl.edu 37 2 99725357 99725357 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_025244.2 -1 validated p.I50S 1.000 429 0% 438 14.8% 0 - probably_damaging(0.996) deleterious(0.01) deleterious(0.867) NULL LYG1 129530 genome.wustl.edu 37 2 99900935 99900935 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_174898.2 -1 validated p.R169Q 0.762 126 0% 139 33.8% 1 100% benign(0.065) tolerated(0.42) neutral(0.018) superfamily_Lysozyme-like REV1 51455 genome.wustl.edu 37 2 100019523 100019523 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_016316.2 -1 reviewed p.K1071N 1.000 251 0% 222 13.1% 3 0% probably_damaging(0.998) tolerated(0.5) deleterious(0.484) NULL AFF3 3899 genome.wustl.edu 37 2 100199424 100199424 + Missense_Mutation SNP G G A rs190577667 by1000genomes TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001025108.1 -1 reviewed p.R902W 1.000 426 0% 481 25.8% 1 0% benign(0.034) deleterious(0.01) neutral(0.408) HMMPfam_AF-4 RGPD3 653489 genome.wustl.edu 37 2 107040265 107040265 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001144013.1 -1 validated p.Q1386H 1.000 448 0% 511 23.9% 0 - probably_damaging(0.997) tolerated(0.06) deleterious(0.788) HMMPfam_Ran_BP1,HMMSmart_RanBD,superfamily_SSF50729 RANBP2 5903 genome.wustl.edu 37 2 109384781 109384781 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_006267.4 +1 reviewed p.L2596F 0.000 94 0% 73 20.5% 21 42.8% probably_damaging(0.964) - - NULL CCDC138 165055 genome.wustl.edu 37 2 109421438 109421438 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_144978.1 +1 provisional p.E277* 1.000 140 0% 174 17.2% 0 - - - - NULL NPHP1 4867 genome.wustl.edu 37 2 110936076 110936076 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_000272.3 -1 reviewed p.E85K 1.000 462 0% 531 17.3% 4 75% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL ANAPC1 64682 genome.wustl.edu 37 2 112545874 112545874 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_022662.2 -1 validated p.S1579Y 1.000 541 0% 749 11.1% 14 0% probably_damaging(0.983) tolerated(0.08) deleterious(0.729) NULL ANAPC1 64682 genome.wustl.edu 37 2 112605356 112605356 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000427997 -1 known p.A114T 0.996 229 0% 255 23.1% 0 - - - - NULL DPP10 57628 genome.wustl.edu 37 2 116101408 116101408 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_020868.3 +1 validated p.S64L 1.000 309 0% 347 25.1% 1 100% benign(0.335) tolerated(0.21) neutral(0.149) NULL EN1 2019 genome.wustl.edu 37 2 119600743 119600743 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001426.3 -1 reviewed p.R317I 1.000 121 0% 89 10.1% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like TMEM37 140738 genome.wustl.edu 37 2 120194936 120194936 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_183240.2 +1 validated p.E165K 0.939 172 0% 153 24.8% 22 22.7% benign(0.144) tolerated(0.06) neutral(0.335) NULL CLASP1 23332 genome.wustl.edu 37 2 122217677 122217677 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_015282.2 -1 validated p.L353V 1.000 201 0% 231 30.3% 0 - possibly_damaging(0.577) tolerated(0.56) neutral(0.205) superfamily_ARM repeat CLASP1 23332 genome.wustl.edu 37 2 122273244 122273244 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_015282.2 -1 validated p.S214F 1.000 352 0% 410 26.6% 3 0% possibly_damaging(0.906) deleterious(0) deleterious(0.804) superfamily_ARM repeat CNTNAP5 129684 genome.wustl.edu 37 2 125367442 125367442 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_130773.2 +1 reviewed p.I606 0.208 91 1.1% 60 20% 0 - - - - superfamily_Fibrinogen_a/b/g_C,superfamily_ConA_like_lec_gl ERCC3 2071 genome.wustl.edu 37 2 128028923 128028923 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_000122.1 -1 reviewed p.R645Q 1.000 198 0% 194 24.2% 15 46.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Helicase_C,HMMSmart_SM00490,superfamily_P-loop containing nucleoside triphosphate hydrolases MYO7B 4648 genome.wustl.edu 37 2 128394398 128394398 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001080527.1 +1 provisional p.K2053 1.000 119 0% 81 14.8% 13 15.3% - - - NULL LOC653781 653781 genome.wustl.edu 37 2 131414280 131414280 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 XM_929706.3 +1 model p.K649N 0.086 429 0.2% 453 12.4% 0 - probably_damaging(0.976) deleterious(0) deleterious(0.863) NULL GPR148 344561 genome.wustl.edu 37 2 131487111 131487111 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_207364.2 +1 validated p.F129 0.007 94 0% 89 36% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like FAM123C 205147 genome.wustl.edu 37 2 131520126 131520126 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001105193.1 +1 validated p.R161W 0.998 30 0% 46 26.1% 0 - benign(0.003) deleterious(0) neutral(0.445) HMMPfam_WTX POTEE 445582 genome.wustl.edu 37 2 131985926 131985926 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001083538.1 +1 validated p.E343* 0.077 1693 0.1% 1911 11.6% 0 - - - - HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat LOC100127989 100127989 genome.wustl.edu 37 2 132294532 132294532 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 XM_001724172.1 -1 model p.D41N 0.163 115 0% 96 33.3% 0 - - - - NULL NCKAP5 344148 genome.wustl.edu 37 2 133539730 133539730 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_207363.2 -1 validated p.K1552Q 0.949 336 0% 302 37.4% 1 0% probably_damaging(0.98) deleterious(0.02) deleterious(0.807) NULL MGAT5 4249 genome.wustl.edu 37 2 135107416 135107416 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_002410.3 +1 validated p.E385K 1.000 355 0% 287 20.6% 5 20% possibly_damaging(0.942) tolerated(0.33) neutral(0.411) NULL ACMSD 130013 genome.wustl.edu 37 2 135596289 135596289 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_138326.2 +1 validated p.E13* 1.000 374 0% 406 22.4% 0 - - - - HMMPfam_Amidohydro_2,superfamily_Metallo-dependent hydrolases RAB3GAP1 22930 genome.wustl.edu 37 2 135851219 135851219 + Silent SNP T T C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_012233.2 +1 reviewed p.G106 0.997 443 0.2% 587 24% 11 9% - - - NULL RAB3GAP1 22930 genome.wustl.edu 37 2 135883788 135883788 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_012233.2 +1 reviewed p.E290K 1.000 580 0% 544 29.2% 13 7.6% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL SPOPL 339745 genome.wustl.edu 37 2 139326627 139326627 + Missense_Mutation SNP C C T rs142534399 by1000genomes TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001001664.2 +1 validated p.R386C 1.000 105 0% 132 23.5% 7 28.5% benign(0.01) deleterious(0) neutral(0.445) NULL LRP1B 53353 genome.wustl.edu 37 2 141135836 141135836 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_018557.2 -1 validated p.L3517F 0.848 286 0% 351 26.5% 0 - possibly_damaging(0.832) tolerated(0.71) neutral(0.319) HMMPfam_Ldl_recept_a,HMMSmart_LDLa,superfamily_LDL_rcpt_classA_cys-rich ARHGAP15 55843 genome.wustl.edu 37 2 144525598 144525598 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_018460.3 +1 validated p.S429R 1.000 205 0% 245 20.4% 12 0% possibly_damaging(0.937) deleterious(0.02) deleterious(0.766) HMMPfam_RhoGAP,HMMSmart_RhoGAP,superfamily_Rho_GAP NEB 4703 genome.wustl.edu 37 2 152417533 152417533 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_004543.4 -1 reviewed p.K4696 0.802 521 0.2% 628 22.5% 0 - - - - HMMPfam_Nebulin,HMMSmart_SM00227 NEB 4703 genome.wustl.edu 37 2 152468834 152468834 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_004543.4 -1 reviewed p.E3648K 0.997 195 0% 209 29.7% 0 - benign(0.066) tolerated(0.24) neutral(0.042) HMMSmart_SM00227 NEB 4703 genome.wustl.edu 37 2 152507244 152507244 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_004543.4 -1 reviewed p.F2357L 0.042 311 0% 292 27.4% 0 - benign(0.048) tolerated(0.48) neutral(0.014) HMMSmart_SM00227 DAPL1 92196 genome.wustl.edu 37 2 159672323 159672323 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001017920.2 +1 validated p.R105Q 1.000 264 0% 251 49.8% 7 85.7% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL TANC1 85461 genome.wustl.edu 37 2 160085346 160085346 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_033394.2 +1 validated p.E1364K 1.000 310 0% 303 25.1% 11 9% benign(0.122) deleterious(0.02) neutral(0.393) HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like BAZ2B 29994 genome.wustl.edu 37 2 160243066 160243066 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_013450.2 -1 validated p.F1090C 1.000 134 0% 182 25.3% 5 20% possibly_damaging(0.899) deleterious(0) deleterious(0.800) HMMPfam_DDT,HMMSmart_SM00571 LY75 4065 genome.wustl.edu 37 2 160746856 160746856 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_002349.2 -1 validated p.E224K 0.658 187 0% 179 32.4% 1 100% probably_damaging(0.981) tolerated(0.28) neutral(0.457) HMMSmart_SM00034,superfamily_C-type lectin-like GCG 2641 genome.wustl.edu 37 2 163003900 163003900 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_002054.3 -1 reviewed p.D73Y 1.000 322 0% 312 21.5% 0 - possibly_damaging(0.504) deleterious(0) deleterious(0.613) HMMPfam_Hormone_2,HMMSmart_GLUCA,PatternScan_GLUCAGON FAP 2191 genome.wustl.edu 37 2 163083065 163083065 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_004460.2 -1 reviewed p.S53Y 0.122 232 0% 175 21.1% 4 0% benign(0) tolerated(0.14) neutral(0.249) superfamily_SSF82171 IFIH1 64135 genome.wustl.edu 37 2 163144679 163144679 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_022168.2 -1 reviewed p.S354F 0.960 287 0% 275 25.1% 14 35.7% possibly_damaging(0.94) deleterious(0.01) deleterious(0.790) HMMPfam_ResIII,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases KCNH7 90134 genome.wustl.edu 37 2 163279813 163279813 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_173162.1 -1 reviewed p.A722 0.001 213 0% 261 21.5% 0 - - - - NULL FIGN 55137 genome.wustl.edu 37 2 164466760 164466760 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_018086.2 -1 validated p.R528W 1.000 179 0% 186 21% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_AAA,HMMPfam_AAA,superfamily_SSF52540 SCN1A 6323 genome.wustl.edu 37 2 166854573 166854573 + Missense_Mutation SNP T T C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_006920.4 -1 reviewed p.D1473G 1.000 308 0% 378 23.5% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_SSF81324 SCN9A 6335 genome.wustl.edu 37 2 167163022 167163022 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_002977.3 -1 reviewed p.V155 1.000 352 0% 379 19.8% 0 - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels SCN7A 6332 genome.wustl.edu 37 2 167321980 167321980 + Silent SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_002976.2 -1 validated p.T311 1.000 199 0% 233 28.8% 0 - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels SCN7A 6332 genome.wustl.edu 37 2 167322357 167322357 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_002976.2 -1 validated p.R269* 0.063 359 0.3% 396 24.2% 0 - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels XIRP2 129446 genome.wustl.edu 37 2 168106476 168106476 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_152381.4 +1 validated p.I2858 0.000 151 0.7% 182 20.3% 0 - - - - NULL STK39 27347 genome.wustl.edu 37 2 169023878 169023878 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_013233.2 -1 reviewed p.V121I 0.977 229 0% 330 24.2% 17 29.4% benign(0.027) tolerated(0.32) neutral(0.026) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase CERS6 253782 genome.wustl.edu 37 2 169313014 169313014 + Missense_Mutation SNP T T C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_203463.1 +1 validated p.V19A 1.000 132 0% 163 25.8% 4 50% probably_damaging(0.992) deleterious(0.01) deleterious(0.853) NULL BBS5 129880 genome.wustl.edu 37 2 170361000 170361000 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_152384.2 +1 reviewed p.R312C 1.000 394 0% 410 29.3% 5 80% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_DUF1448 KLHL23 151230 genome.wustl.edu 37 2 170592003 170592003 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_144711.4 +1 validated p.R160I 1.000 121 0% 121 28.9% 2 50% probably_damaging(0.982) tolerated(0.06) deleterious(0.749) HMMPfam_BACK MYO3B 140469 genome.wustl.edu 37 2 171243707 171243707 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_138995.3 +1 validated p.S489L 1.000 133 0% 180 32.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYO3B 140469 genome.wustl.edu 37 2 171256757 171256757 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_138995.3 +1 validated p.F617 1.000 397 0% 466 25.3% 0 - - - - HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases GORASP2 26003 genome.wustl.edu 37 2 171807862 171807862 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_015530.3 +1 reviewed p.E154K 1.000 202 0% 241 24.1% 49 40.8% possibly_damaging(0.931) deleterious(0.03) deleterious(0.742) superfamily_PDZ domain-like,HMMPfam_GRASP55_65 RAPGEF4 11069 genome.wustl.edu 37 2 173662258 173662258 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_007023.3 +1 validated p.R72C 1.000 378 0% 396 26% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_cNMP_binding,HMMSmart_SM00100,superfamily_cAMP-binding domain-like CHRNA1 1134 genome.wustl.edu 37 2 175613538 175613538 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001039523.2 -1 reviewed p.D363N 1.000 270 0% 280 27.5% 0 - benign(0.005) tolerated(0.44) neutral(0.013) HMMPfam_Neur_chan_memb,superfamily_Neurotransmitter-gated ion-channel transmembrane pore HNRNPA3 220988 genome.wustl.edu 37 2 178081428 178081428 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_194247.2 +1 validated p.F223C 1.000 698 0% 711 22.9% 217 35.9% unknown(0) tolerated(0.13) - superfamily_RNA-binding domain RBD OSBPL6 114880 genome.wustl.edu 37 2 179193072 179193072 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_145739.1 +1 reviewed p.K74 1.000 259 0.4% 308 25.3% 0 - - - - HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 TTN 7273 genome.wustl.edu 37 2 179402618 179402618 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000356127 -1 known p.E30536K 1.000 160 0% 154 26% 1 0% probably_damaging(0.983) - - HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179424400 179424400 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000356127 -1 known p.S26250Y 1.000 343 0% 364 26.9% 0 - probably_damaging(0.988) - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179426050 179426050 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000356127 -1 known p.S25700* 1.000 387 0% 474 27.8% 0 - - - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179430202 179430202 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000356127 -1 known p.F24316C 1.000 284 0% 318 29.2% 0 - probably_damaging(0.979) - - HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179430977 179430977 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000356127 -1 known p.R24058* 1.000 289 0% 308 21.4% 0 - - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179436930 179436930 + Silent SNP A A G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_133378.4 -1 reviewed p.M22075T 1.000 338 0.3% 297 27.3% 0 - - - - NULL TTN 7273 genome.wustl.edu 37 2 179458785 179458785 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_133378.4 -1 reviewed p.R16877K 0.996 405 0% 510 29% 0 - - - - NULL TTN 7273 genome.wustl.edu 37 2 179477168 179477168 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000356127 -1 known p.R14127Q 1.000 403 0% 400 26.8% 1 0% benign(0.098) - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179501307 179501307 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000356127 -1 known p.I11148S 0.995 208 0% 307 25.4% 0 - benign(0.004) - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179506965 179506965 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000356127 -1 known p.S10951 1.000 207 0% 242 21.5% 0 - - - - NULL TTN 7273 genome.wustl.edu 37 2 179516392 179516392 + Splice_Site SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000356127 -1 known e159+1 1.000 512 0.2% 634 29.5% 0 - - - - - TTN 7273 genome.wustl.edu 37 2 179588752 179588752 + Silent SNP A A G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000356127 -1 known p.F5834 0.997 200 0% 217 25.3% 0 - - - - HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179598566 179598566 + Missense_Mutation SNP T T C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000356127 -1 known p.T3940A 0.969 210 0% 192 26.6% 0 - unknown(0) - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179606237 179606237 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000342175 -1 known p.K3737T 0.877 253 0% 324 23.1% 0 - benign(0.099) - - HMMSmart_SM00409 TTN 7273 genome.wustl.edu 37 2 179611330 179611330 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_133379.3 -1 reviewed p.S5266N 1.000 378 0% 459 27.7% 0 - probably_damaging(0.957) deleterious(0) deleterious(0.845) HMMSmart_IG,HMMPfam_I-set,superfamily_SSF48726 TTN 7273 genome.wustl.edu 37 2 179644117 179644117 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_133379.3 -1 reviewed p.E1268* 1.000 149 0% 150 16% 0 - - - - NULL TTN 7273 genome.wustl.edu 37 2 179647276 179647276 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_133379.3 -1 reviewed p.E1052K 0.998 399 0% 378 28.3% 0 - benign(0.014) - - NULL FAM171B 165215 genome.wustl.edu 37 2 187626362 187626362 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_177454.3 +1 validated p.K431N 0.895 110 0% 133 23.3% 0 - benign(0.051) tolerated(0.33) neutral(0.027) HMMPfam_UPF0560 DNAH7 56171 genome.wustl.edu 37 2 196642571 196642571 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_018897.2 -1 validated p.Y3673D 0.996 307 0.3% 361 25.2% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Dynein_heavy DNAH7 56171 genome.wustl.edu 37 2 196788377 196788377 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_018897.2 -1 validated p.K1256T 0.539 214 0% 264 28.4% 0 - benign(0.004) tolerated(0.41) neutral(0.015) NULL GTF3C3 9330 genome.wustl.edu 37 2 197645294 197645294 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_012086.2 -1 provisional p.E403* 0.998 234 0% 340 24.1% 12 8.3% - - - superfamily_Protein prenylyltransferase GTF3C3 9330 genome.wustl.edu 37 2 197656092 197656092 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_012086.2 -1 provisional p.A168 0.268 395 0% 473 24.1% 4 0% - - - HMMSmart_SM00028,superfamily_Protein prenylyltransferase SF3B1 23451 genome.wustl.edu 37 2 198260869 198260869 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000424674 -1 known p.R166H 0.796 231 0% 253 24.9% 128 35.1% - - - superfamily_ARM repeat HSPD1 3329 genome.wustl.edu 37 2 198359446 198359446 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_002156.4 -1 reviewed p.E181* 1.000 344 0% 380 29.7% 122 1.6% - - - HMMPfam_Cpn60_TCP1,superfamily_GroEL-ATPase,superfamily_SSF54849 BOLL 66037 genome.wustl.edu 37 2 198646556 198646556 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_197970.2 -1 validated p.S19A 1.000 480 0% 627 24.4% 0 - benign(0.019) tolerated(0.17) neutral(0.060) superfamily_SSF54928 PLCL1 5334 genome.wustl.edu 37 2 198950712 198950712 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_006226.3 +1 validated p.R726Q 1.000 487 0% 597 26.1% 1 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_C2,superfamily_C2_CaLB SATB2 23314 genome.wustl.edu 37 2 200233326 200233326 + Splice_Site SNP A A G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_015265.3 -1 reviewed e5+2 1.000 375 0% 363 25.3% 0 - - - - - SGOL2 151246 genome.wustl.edu 37 2 201436758 201436758 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_152524.5 +1 validated p.D563 0.000 96 0% 90 20% 3 0% - - - NULL CASP8 841 genome.wustl.edu 37 2 202131223 202131223 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001080125.1 +1 reviewed p.R64I 0.000 150 0% 128 21.1% 4 25% possibly_damaging(0.456) tolerated(0.05) deleterious(0.495) HMMPfam_DED,HMMSmart_SM00031,superfamily_DEATH domain TRAK2 66008 genome.wustl.edu 37 2 202262225 202262225 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_015049.2 -1 validated p.R257C 1.000 433 0% 436 27.1% 8 37.5% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_HAP1_N ZDBF2 57683 genome.wustl.edu 37 2 207169846 207169846 + Silent SNP A A G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_020923.1 +1 validated p.R198 0.007 138 0% 116 28.4% 0 - - - - NULL ZDBF2 57683 genome.wustl.edu 37 2 207173411 207173411 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_020923.1 +1 validated p.E1387* 0.020 123 0% 129 24% 0 - - - - NULL ZDBF2 57683 genome.wustl.edu 37 2 207173631 207173631 + Missense_Mutation SNP T T C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_020923.1 +1 validated p.V1460A 0.511 150 0% 175 17.7% 1 0% probably_damaging(0.998) tolerated(0.36) deleterious(0.494) NULL ZDBF2 57683 genome.wustl.edu 37 2 207175850 207175850 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_020923.1 +1 validated p.L2200I 0.006 94 0% 116 25% 0 - benign(0.189) deleterious(0) neutral(0.462) NULL DYTN 391475 genome.wustl.edu 37 2 207516543 207516543 + Nonstop_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001093730.1 -1 provisional p.*579L 1.000 86 0% 96 20.8% 0 - - - - NULL FASTKD2 22868 genome.wustl.edu 37 2 207651463 207651463 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001136193.1 +1 reviewed p.F478 0.987 461 0% 499 26.9% 8 62.5% - - - HMMPfam_FAST_1 CREB1 1385 genome.wustl.edu 37 2 208461657 208461657 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_134442.3 +1 reviewed p.R301C 1.000 188 0% 190 25.3% 7 14.2% probably_damaging(1) tolerated(0.06) deleterious(0.823) HMMSmart_SM00338,PatternScan_BZIP_BASIC,HMMPfam_bZIP_1 UNC80 285175 genome.wustl.edu 37 2 210745695 210745695 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_032504.1 +1 validated p.N1331 1.000 264 0% 269 25.3% 0 - - - - NULL UNC80 285175 genome.wustl.edu 37 2 210860235 210860235 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_032504.1 +1 validated p.E3231D 1.000 145 0% 165 21.2% 0 - probably_damaging(0.971) deleterious(0) deleterious(0.857) NULL SPAG16 79582 genome.wustl.edu 37 2 214204921 214204921 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_024532.3 +1 validated p.E191* 1.000 90 0% 115 24.3% 1 0% - - - superfamily_WD40 repeat-like SPAG16 79582 genome.wustl.edu 37 2 215274994 215274994 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_024532.3 +1 validated p.I617M 0.101 283 0% 287 29.3% 0 - benign(0.063) tolerated(0.19) neutral(0.054) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 ABCA12 26154 genome.wustl.edu 37 2 215823018 215823018 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_173076.2 -1 reviewed p.N2034H 1.000 311 0% 444 24.5% 7 14.2% probably_damaging(0.994) deleterious(0.02) deleterious(0.835) NULL ABCA12 26154 genome.wustl.edu 37 2 215846946 215846946 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_173076.2 -1 reviewed p.R1515Q 1.000 278 0.4% 352 27.3% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases ABCA12 26154 genome.wustl.edu 37 2 215882815 215882815 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_173076.2 -1 reviewed p.E567* 1.000 489 0% 476 23.5% 0 - - - - NULL FN1 2335 genome.wustl.edu 37 2 216279664 216279664 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_212482.1 -1 reviewed p.E613K 1.000 154 0% 171 24% 36 0% benign(0.002) deleterious(0.05) neutral(0.345) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III FN1 2335 genome.wustl.edu 37 2 216289985 216289985 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_212482.1 -1 reviewed p.R290C 0.610 72 0% 102 27.5% 32 0% probably_damaging(0.989) deleterious(0) deleterious(0.884) NULL CCDC108 255101 genome.wustl.edu 37 2 219888010 219888010 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_194302.2 -1 provisional p.F913 0.983 99 0% 103 26.2% 0 - - - - superfamily_PapD-like CCDC108 255101 genome.wustl.edu 37 2 219888959 219888959 + Silent SNP A A G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_194302.2 -1 provisional p.G791 0.000 67 0% 63 27% 0 - - - - superfamily_PapD-like SLC23A3 151295 genome.wustl.edu 37 2 220029041 220029042 + In_Frame_Ins INS - - CCA novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001144890.1 -1 validated p.404in_frame_insV 0.505:0.896 - - - - - - - - - HMMPfam_Xan_ur_permease ABCB6 10058 genome.wustl.edu 37 2 220081386 220081386 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_005689.1 -1 reviewed p.Y286D 1.000 62 0% 51 23.5% 13 69.2% benign(0.424) tolerated(0.2) neutral(0.186) HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain PTPRN 5798 genome.wustl.edu 37 2 220167214 220167214 + Splice_Site SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_002846.2 -1 reviewed e6-1 1.000 60 0% 56 12.5% 0 - - - - - GMPPA 29926 genome.wustl.edu 37 2 220370456 220370456 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_013335.2 +1 reviewed p.P291 0.752 211 0.5% 189 24.3% 60 43.3% - - - HMMPfam_Hexapep,superfamily_Trimeric LpxA-like enzymes DOCK10 55619 genome.wustl.edu 37 2 225662609 225662609 + Silent SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000409802 -1 known p.Q254K 1.000 190 0% 197 25.9% 5 0% - - - NULL SP140L 93349 genome.wustl.edu 37 2 231223688 231223688 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_138402.4 +1 provisional p.D94N 0.460 316 0% 260 22.7% 6 0% probably_damaging(0.992) deleterious(0) deleterious(0.892) HMMPfam_Sp100 SP100 6672 genome.wustl.edu 37 2 231404056 231404056 + Silent SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000431952 +1 known p.L97I 0.222 170 0% 224 24.1% 4 0% - - - HMMSmart_SM00249,superfamily_FYVE/PHD zinc finger,PatternScan_ZF_PHD_1,HMMPfam_PHD PDE6D 5147 genome.wustl.edu 37 2 232597735 232597735 + Missense_Mutation SNP A A G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_002601.2 -1 validated p.V127A 1.000 219 0% 286 19.9% 24 37.5% possibly_damaging(0.602) deleterious(0) deleterious(0.653) HMMPfam_GMP_PDE_delta,superfamily_E set domains DIS3L2 129563 genome.wustl.edu 37 2 232995430 232995430 + Splice_Site SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_152383.4 +1 validated e6+1 1.000 195 0% 260 12.7% 1 100% - - - - TIGD1 200765 genome.wustl.edu 37 2 233413193 233413193 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_145702.1 -1 validated p.R467I 0.962 18 0% 16 31.2% 2 50% possibly_damaging(0.951) deleterious(0) deleterious(0.839) NULL GIGYF2 26058 genome.wustl.edu 37 2 233655826 233655826 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001103147.1 +1 reviewed p.E369* 1.000 154 0% 182 28% 4 0% - - - NULL USP40 55230 genome.wustl.edu 37 2 234428237 234428237 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000452724 -1 known p.F96 0.035 179 0% 235 26.4% 0 - - - - NULL UGT1A8 54576 genome.wustl.edu 37 2 234527114 234527114 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_019076.4 +1 reviewed p.R254Q 0.026 300 0% 267 24.3% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase UGT1A5 54579 genome.wustl.edu 37 2 234621899 234621899 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_019078.1 +1 reviewed p.E88K 0.009 243 0% 249 20.5% 0 - benign(0.004) tolerated(0.08) neutral(0.300) HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase LRRFIP1 9208 genome.wustl.edu 37 2 238667390 238667390 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001137550.1 +1 validated p.E415* 1.000 247 0% 289 28.7% 0 - - - - HMMPfam_DUF2051 RBM44 375316 genome.wustl.edu 37 2 238727165 238727165 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001080504.2 +1 validated p.M536L 0.000 91 0% 120 19.2% 0 - benign(0.002) tolerated(0.44) neutral(0.013) NULL RBM44 375316 genome.wustl.edu 37 2 238737891 238737891 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001080504.2 +1 validated p.D879N 0.511 273 0% 347 17.6% 0 - benign(0.345) tolerated(0.6) neutral(0.114) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD ILKAP 80895 genome.wustl.edu 37 2 239098614 239098614 + Splice_Site SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_030768.2 -1 reviewed e4-1 1.000 411 0% 466 26% 2 50% - - - - ANKMY1 51281 genome.wustl.edu 37 2 241446976 241446976 + Splice_Site SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_016552.2 -1 validated e11+1 1.000 85 0% 96 25% 0 - - - - - CAPN10 11132 genome.wustl.edu 37 2 241528860 241528860 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_023083.2 +1 reviewed p.A81V 0.992 73 0% 52 36.5% 6 0% probably_damaging(0.991) tolerated(0.2) deleterious(0.493) HMMPfam_Peptidase_C2,HMMSmart_SM00230,superfamily_Cysteine proteinases AGXT 189 genome.wustl.edu 37 2 241808602 241808602 + Missense_Mutation SNP A A G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_000030.2 +1 reviewed p.K61E 1.000 116 0.9% 116 12.9% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Aminotran_5,superfamily_PLP-dependent transferases HDLBP 3069 genome.wustl.edu 37 2 242176062 242176062 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_005336.3 -1 validated p.E958* 1.000 249 0% 245 26.9% 223 5.3% - - - HMMSmart_KH,superfamily_SSF54791 HDLBP 3069 genome.wustl.edu 37 2 242196178 242196178 + Missense_Mutation SNP A A G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_005336.3 -1 validated p.V165A 1.000 683 0% 652 25.9% 69 53.6% probably_damaging(0.96) deleterious(0) deleterious(0.848) HMMSmart_KH,HMMPfam_KH_1,superfamily_SSF54791 CHL1 10752 genome.wustl.edu 37 3 369910 369910 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_006614.2 +1 reviewed p.S86 0.004 344 0% 456 21.7% 1 0% - - - HMMSmart_SM00408,HMMSmart_SM00409,superfamily_Immunoglobulin CNTN6 27255 genome.wustl.edu 37 3 1443184 1443184 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_014461.2 +1 reviewed p.E924 0.982 386 0% 458 22.5% 0 - - - - HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like CNTN4 152330 genome.wustl.edu 37 3 2908473 2908473 + Silent SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_175607.1 +1 reviewed p.S164 0.017 246 0% 279 24% 1 0% - - - HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin ITPR1 3708 genome.wustl.edu 37 3 4699832 4699832 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001099952.2 +1 reviewed p.R341* 0.457 261 0% 302 28.1% 2 0% - - - HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMSmart_SM00472 ITPR1 3708 genome.wustl.edu 37 3 4759058 4759058 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000356617 +1 known p.S1700F 1.000 667 0% 720 24.9% 0 - benign(0.006) tolerated(0.61) neutral(0.004) NULL ITPR1 3708 genome.wustl.edu 37 3 4854915 4854915 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001099952.2 +1 reviewed p.E2472* 0.821 247 0% 231 24.2% 4 0% - - - HMMPfam_Ion_trans C3orf32 51066 genome.wustl.edu 37 3 8671411 8671411 + Missense_Mutation SNP T T C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_015931.1 -1 predicted p.E154G 1.000 136 0% 122 31.1% 0 - benign(0.026) tolerated(0.5) neutral(0.011) NULL ATP2B2 491 genome.wustl.edu 37 3 10420036 10420036 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001001331.2 -1 reviewed p.G367 0.036 57 0% 44 11.4% 0 - - - - HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transmembrane domain M ATG7 10533 genome.wustl.edu 37 3 11406154 11406154 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000446110 +1 known p.Q8* 1.000 292 0% 333 28.5% 22 22.7% - - - NULL EFHB 151651 genome.wustl.edu 37 3 19975022 19975022 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_144715.3 -1 validated p.F163 0.000 142 0% 143 32.2% 0 - - - - NULL THRB 7068 genome.wustl.edu 37 3 24164384 24164384 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_000461.4 -1 reviewed p.F459 0.511 194 0% 157 32.5% 1 0% - - - superfamily_Nuclear receptor ligand-binding domain NGLY1 55768 genome.wustl.edu 37 3 25761670 25761670 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_018297.3 -1 reviewed p.R542* 0.951 183 0% 205 29.8% 23 8.6% - - - HMMPfam_DUF750,HMMSmart_SM00613 NEK10 152110 genome.wustl.edu 37 3 27213352 27213352 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000396636 -1 known p.R930I 1.000 300 0% 252 20.2% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL GADL1 339896 genome.wustl.edu 37 3 30896235 30896235 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_207359.2 -1 validated p.Y128* 0.997 390 0% 402 25.4% 0 - - - - HMMPfam_Pyridoxal_deC,superfamily_PLP-dependent transferases STAC 6769 genome.wustl.edu 37 3 36526481 36526481 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_003149.1 +1 provisional p.R168W 1.000 542 0% 469 21.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL GOLGA4 2803 genome.wustl.edu 37 3 37365640 37365640 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_002078.4 +1 reviewed p.K755Q 0.959 101 0% 124 17.7% 3 66.6% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL OXSR1 9943 genome.wustl.edu 37 3 38291486 38291486 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_005109.2 +1 reviewed p.R451Q 1.000 202 0% 202 20.8% 5 40% probably_damaging(1) tolerated(0.05) deleterious(0.845) NULL HHATL 57467 genome.wustl.edu 37 3 42740595 42740595 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_020707.3 -1 validated p.R73C 1.000 78 0% 117 29.1% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL HIGD1A 25994 genome.wustl.edu 37 3 42826791 42826791 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001099668.1 -1 validated p.R99Q 0.965 220 0% 272 24.3% 164 42% benign(0.005) tolerated(0.38) neutral(0.018) NULL ZNF662 389114 genome.wustl.edu 37 3 42956403 42956403 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001134656.1 +1 validated p.E306* 0.976 144 0% 191 12.6% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers C3orf77 375337 genome.wustl.edu 37 3 44284432 44284432 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001145030.1 +1 validated p.S145L 0.230 116 0.9% 129 22.5% 0 - probably_damaging(0.957) deleterious(0) deleterious(0.845) NULL C3orf77 375337 genome.wustl.edu 37 3 44369790 44369790 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001145030.1 +1 validated p.R1575Q 1.000 216 0% 242 25.2% 0 - probably_damaging(0.97) tolerated(0.14) deleterious(0.662) NULL C3orf77 375337 genome.wustl.edu 37 3 44373423 44373423 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001145030.1 +1 validated p.L1667V 0.971 460 0% 470 15.3% 0 - probably_damaging(0.99) deleterious(0.03) deleterious(0.806) NULL ZNF852 285346 genome.wustl.edu 37 3 44541912 44541912 + Silent SNP A A G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000436261 -1 known p.D119 0.009 93 0% 128 14.8% 1 0% - - - NULL ZNF167 55888 genome.wustl.edu 37 3 44609843 44609843 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_018651.2 +1 validated p.K243N 0.683 229 0% 217 25.8% 0 - benign(0.15) deleterious(0.01) neutral(0.419) HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF660 285349 genome.wustl.edu 37 3 44636461 44636461 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_173658.1 +1 provisional p.R259Q 0.609 126 0% 153 20.3% 0 - possibly_damaging(0.71) deleterious(0) deleterious(0.701) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF197 10168 genome.wustl.edu 37 3 44683758 44683758 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_006991.3 +1 reviewed p.F379C 0.999 79 0% 89 34.8% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers CDCP1 64866 genome.wustl.edu 37 3 45136960 45136960 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_022842.3 -1 reviewed p.F375 0.992 297 0.3% 355 17.7% 15 26.6% - - - NULL CXCR6 10663 genome.wustl.edu 37 3 45988860 45988860 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_006564.1 +1 validated p.R296Q 0.956 227 0.4% 208 26.4% 19 0% probably_damaging(1) tolerated(0.06) deleterious(0.823) superfamily_Family A G protein-coupled receptor-like FYCO1 79443 genome.wustl.edu 37 3 46008280 46008280 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_024513.2 -1 validated p.S849L 0.144 108 0.9% 93 28% 7 28.5% benign(0) tolerated(0.2) neutral(0.049) NULL CCR2 729230 genome.wustl.edu 37 3 46399101 46399101 + Missense_Mutation SNP A A G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001123041.2 +1 validated p.Y28C 0.000 306 0% 290 25.9% 3 0% possibly_damaging(0.492) tolerated(0.09) neutral(0.461) superfamily_Family A G protein-coupled receptor-like SETD2 29072 genome.wustl.edu 37 3 47163532 47163532 + Missense_Mutation SNP T T C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_014159.6 -1 reviewed p.N865S 0.767 100 0% 90 25.6% 3 0% possibly_damaging(0.882) deleterious(0) deleterious(0.789) NULL KLHL18 23276 genome.wustl.edu 37 3 47361148 47361148 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_025010.4 +1 validated p.G45 0.996 296 0% 338 27.2% 2 50% - - - HMMSmart_SM00225,superfamily_POZ domain,HMMPfam_BTB PRKAR2A 5576 genome.wustl.edu 37 3 48793859 48793859 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_004157.2 -1 reviewed p.F298V 1.000 369 0% 435 30.3% 2 0% possibly_damaging(0.476) deleterious(0) deleterious(0.602) HMMPfam_cNMP_binding,HMMSmart_cNMP,PatternScan_CNMP_BINDING_1,superfamily_cNMP_binding ARIH2 10425 genome.wustl.edu 37 3 49017843 49017843 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_006321.2 +1 provisional p.E391K 1.000 268 0% 316 24.7% 18 44.4% benign(0.001) tolerated(0.77) neutral(0.001) NULL C3orf62 375341 genome.wustl.edu 37 3 49308863 49308863 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_198562.2 -1 validated p.R185Q 1.000 127 0% 123 23.6% 4 25% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL USP4 7375 genome.wustl.edu 37 3 49343264 49343264 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_003363.3 -1 validated p.E338K 1.000 223 0.9% 289 26% 16 25% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_UCH,superfamily_Cysteine proteinases RHOA 387 genome.wustl.edu 37 3 49397782 49397782 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001664.2 -1 validated p.A148T 1.000 905 0.1% 1001 27.7% 364 27.4% benign(0.007) deleterious(0.01) neutral(0.406) HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases MST1R 4486 genome.wustl.edu 37 3 49927420 49927420 + Missense_Mutation SNP T T C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_002447.2 -1 validated p.D1295G 1.000 244 0% 288 23.3% 40 47.5% possibly_damaging(0.859) deleterious(0) deleterious(0.776) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) CACNA2D2 9254 genome.wustl.edu 37 3 50416421 50416421 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001005505.1 -1 reviewed p.R422C 1.000 118 0% 121 29.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like DOCK3 1795 genome.wustl.edu 37 3 51251600 51251600 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_004947.3 +1 validated p.R392W 1.000 389 0.3% 438 27.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL RAD54L2 23132 genome.wustl.edu 37 3 51624446 51624446 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_015106.2 +1 validated p.E4K 1.000 264 0% 348 26.7% 3 66.6% unknown(0) deleterious(0) - NULL IQCF2 389123 genome.wustl.edu 37 3 51895692 51895692 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_203424.1 +1 validated p.R4* 0.000 232 0% 276 30.4% 0 - - - - NULL PARP3 10039 genome.wustl.edu 37 3 51978481 51978481 + Missense_Mutation SNP C C T rs146036726 by1000genomes TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001003931.2 +1 reviewed p.R137W 0.954 88 0% 120 30% 28 42.8% benign(0) tolerated(0.06) neutral(0.323) HMMPfam_WGR,HMMSmart_WGR NISCH 11188 genome.wustl.edu 37 3 52510607 52510607 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_007184.3 +1 validated p.E304K 1.000 87 0% 71 22.5% 20 20% benign(0.007) tolerated(0.09) neutral(0.296) HMMSmart_SM00365,superfamily_Outer arm dynein light chain 1 STAB1 23166 genome.wustl.edu 37 3 52554134 52554134 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_015136.2 +1 reviewed p.E1804K 0.926 130 0% 88 25% 20 0% benign(0.006) tolerated(1) - HMMPfam_Fasciclin,HMMSmart_SM00554,superfamily_FAS1 domain ITIH3 3699 genome.wustl.edu 37 3 52831850 52831850 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_002217.3 +1 validated p.F189 0.878 160 0% 169 20.1% 0 - - - - NULL ACTR8 93973 genome.wustl.edu 37 3 53914096 53914096 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_022899.4 -1 validated p.S55L 1.000 305 0% 375 20% 7 14.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Actin,HMMSmart_ACTIN,superfamily_SSF53067 CACNA2D3 55799 genome.wustl.edu 37 3 54604111 54604111 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_018398.2 +1 reviewed p.D290Y 1.000 361 0% 351 25.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like PXK 54899 genome.wustl.edu 37 3 58410681 58410681 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000479134 +1 known p.S311L 0.972 52 0% 77 26% 11 36.3% - - - NULL PTPRG 5793 genome.wustl.edu 37 3 62189172 62189172 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_002841.3 +1 reviewed p.S568L 0.314 63 0% 77 26% 3 0% benign(0.032) deleterious(0) neutral(0.446) NULL CADPS 8618 genome.wustl.edu 37 3 62739163 62739163 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_003716.3 -1 reviewed p.L281I 1.000 100 0% 86 41.9% 1 0% benign(0.08) deleterious(0) neutral(0.450) NULL KBTBD8 84541 genome.wustl.edu 37 3 67053666 67053666 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_032505.2 +1 validated p.R66L 1.000 295 0% 340 24.7% 1 0% probably_damaging(0.98) deleterious(0.05) deleterious(0.769) HMMSmart_SM00225,superfamily_POZ domain,HMMPfam_BTB C3orf64 285203 genome.wustl.edu 37 3 69054290 69054290 + Splice_Site SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_173654.1 -1 provisional e4+1 1.000 247 0% 257 21.4% 0 - - - - - FOXP1 27086 genome.wustl.edu 37 3 71015098 71015098 + Missense_Mutation SNP T T C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_032682.4 -1 reviewed p.E611G 1.000 431 0% 432 31.5% 23 26% possibly_damaging(0.8) deleterious(0) deleterious(0.746) NULL FOXP1 27086 genome.wustl.edu 37 3 71019936 71019936 + Missense_Mutation SNP T T C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_032682.4 -1 reviewed p.N558S 1.000 220 0% 251 21.9% 9 55.5% benign(0.322) tolerated(0.06) neutral(0.423) HMMPfam_Fork_head PROS1 5627 genome.wustl.edu 37 3 93595919 93595919 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_000313.3 -1 reviewed p.S587 0.000 309 0% 329 33.7% 8 0% - - - HMMSmart_LamG,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_2 PROS1 5627 genome.wustl.edu 37 3 93619656 93619656 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_000313.3 -1 reviewed p.S240Y 0.007 330 0% 445 27% 7 0% possibly_damaging(0.843) deleterious(0) deleterious(0.768) HMMSmart_EGF_CA,PatternScan_EGF_2,HMMPfam_EGF_CA,superfamily_SSF57196 EPHA6 285220 genome.wustl.edu 37 3 97356810 97356810 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001080448.2 +1 provisional p.H890N 1.000 250 0% 287 23% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_TYR,superfamily_Protein kinase-like (PK-like) OR5H14 403273 genome.wustl.edu 37 3 97869154 97869154 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001005514.1 +1 provisional p.D309N 0.015 140 1.4% 166 22.9% 0 - benign(0) tolerated(1) - NULL OR5K1 26339 genome.wustl.edu 37 3 98189188 98189188 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001004736.2 +1 provisional p.F256L 0.848 430 0% 410 25.4% 0 - benign(0) tolerated(1) - HMMPfam_7tm_1,superfamily_SSF81321 GPR128 84873 genome.wustl.edu 37 3 100387800 100387800 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_032787.2 +1 validated p.K663Q 0.964 403 0% 465 20.4% 0 - probably_damaging(0.999) tolerated(0.1) deleterious(0.777) HMMPfam_7tm_2 ABI3BP 25890 genome.wustl.edu 37 3 100583656 100583656 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000398284 -1 known p.F362V 0.001 165 0% 216 36.1% 0 - - - - NULL FAM55C 91775 genome.wustl.edu 37 3 101520480 101520480 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001134456.1 +1 validated p.Q165H 0.998 357 0% 404 20% 3 0% benign(0.006) tolerated(0.14) neutral(0.249) HMMPfam_Neurexophilin,superfamily_E set domains MORC1 27136 genome.wustl.edu 37 3 108682456 108682456 + Splice_Site SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_014429.3 -1 reviewed e27-1 1.000 294 0.3% 275 29.1% 0 - - - - - MORC1 27136 genome.wustl.edu 37 3 108751619 108751619 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_014429.3 -1 reviewed p.E505* 0.992 146 0.7% 167 22.8% 0 - - - - HMMPfam_zf-CW MORC1 27136 genome.wustl.edu 37 3 108782040 108782040 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_014429.3 -1 reviewed p.F285C 0.982 288 0% 354 25.4% 0 - probably_damaging(0.989) deleterious(0.05) deleterious(0.785) NULL TAGLN3 29114 genome.wustl.edu 37 3 111719690 111719690 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001008272.1 +1 validated p.K84N 1.000 182 0% 184 25.5% 0 - benign(0.001) deleterious(0.01) neutral(0.406) HMMPfam_CH,HMMSmart_SM00033,superfamily_Calponin-homology domain CH-domain C3orf52 79669 genome.wustl.edu 37 3 111821687 111821687 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_024616.2 +1 validated p.T91P 0.127 357 0% 384 17.4% 1 100% possibly_damaging(0.63) deleterious(0) deleterious(0.664) NULL SLC9A10 285335 genome.wustl.edu 37 3 111997697 111997697 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_183061.1 -1 validated p.R66I 0.000 245 0% 322 22.7% 0 - benign(0) tolerated(0.2) neutral(0.049) HMMPfam_Na_H_Exchanger KIAA2018 205717 genome.wustl.edu 37 3 113375352 113375352 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001009899.2 -1 validated p.A1726V 0.407 177 0% 164 21.3% 2 50% benign(0.036) tolerated(0.1) neutral(0.288) NULL GRAMD1C 54762 genome.wustl.edu 37 3 113601666 113601666 + Missense_Mutation SNP T T C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_017577.4 +1 validated p.V176A 0.970 657 0% 739 19.5% 2 100% benign(0.054) tolerated(0.81) neutral(0.004) NULL TIMMDC1 51300 genome.wustl.edu 37 3 119236128 119236128 + Nonsense_Mutation SNP C C T rs149481081 by1000genomes TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_016589.3 +1 validated p.R225* 0.001 206 0% 248 24.6% 108 43.5% - - - NULL KPNA1 3836 genome.wustl.edu 37 3 122186266 122186266 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_002264.3 -1 reviewed p.R47Q 1.000 451 0% 446 25.1% 12 16.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_IBB,superfamily_ARM repeat PARP9 83666 genome.wustl.edu 37 3 122255035 122255035 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_031458.2 -1 validated p.R722I 0.663 218 0% 210 25.7% 67 38.8% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_PARP,superfamily_ADP-ribosylation SEMA5B 54437 genome.wustl.edu 37 3 122667448 122667448 + Missense_Mutation SNP A A G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001031702.2 -1 validated p.V78A 0.020 33 0% 37 21.6% 3 0% benign(0.053) deleterious(0.03) neutral(0.368) NULL ADCY5 111 genome.wustl.edu 37 3 123036942 123036942 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_183357.1 -1 validated p.R760Q 1.000 167 0% 203 19.2% 1 0% probably_damaging(0.972) tolerated(0.38) neutral(0.431) HMMPfam_DUF1053 MYLK 4638 genome.wustl.edu 37 3 123337604 123337604 + Silent SNP T T C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_053025.3 -1 reviewed p.Q1794 0.992 207 0% 247 27.1% 16 0% - - - NULL MCM2 4171 genome.wustl.edu 37 3 127339935 127339935 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_004526.2 +1 reviewed p.S823* 0.852 203 0% 170 26.5% 27 3.7% - - - superfamily_SSF52540 SEC61A1 29927 genome.wustl.edu 37 3 127775657 127775657 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_013336.3 +1 reviewed p.R109Q 1.000 122 0% 151 35.1% 67 35.8% possibly_damaging(0.874) deleterious(0.01) deleterious(0.745) HMMPfam_SecY,superfamily_Preprotein translocase SecY subunit GATA2 2624 genome.wustl.edu 37 3 128200710 128200710 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001145661.1 -1 reviewed p.N365 1.000 84 0% 77 35.1% 10 40% - - - HMMPfam_GATA,HMMSmart_ZnF_GATA,PatternScan_GATA_ZN_FINGER_1,superfamily_SSF57716 ACAD9 28976 genome.wustl.edu 37 3 128598646 128598646 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_014049.4 +1 reviewed p.A38T 0.318 49 0% 40 22.5% 14 35.7% possibly_damaging(0.748) deleterious(0) deleterious(0.719) NULL AMOTL2 51421 genome.wustl.edu 37 3 134086349 134086349 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_016201.2 -1 reviewed p.R344H 0.530 75 0% 33 42.4% 9 22.2% possibly_damaging(0.938) deleterious(0.01) deleterious(0.789) NULL EPHB1 2047 genome.wustl.edu 37 3 134851574 134851574 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_004441.4 +1 reviewed p.R327H 1.000 89 0% 108 26.9% 0 - probably_damaging(0.996) tolerated(0.11) deleterious(0.733) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III PPP2R3A 5523 genome.wustl.edu 37 3 135797264 135797264 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_002718.3 +1 reviewed p.S867L 0.998 183 0% 240 25.4% 4 75% benign(0) tolerated(1) - superfamily_EF-hand MSL2 55167 genome.wustl.edu 37 3 135871352 135871352 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_018133.3 -1 validated p.D124A 0.998 336 0% 406 24.1% 6 16.6% possibly_damaging(0.915) tolerated(0.49) neutral(0.377) NULL LOC256374 256374 genome.wustl.edu 37 3 138363394 138363394 + Missense_Mutation SNP T T C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 XM_170597.7 -1 model p.K44R 1.000 55 0% 76 18.4% 0 - - - - HMMPfam_Pro_isomerase,superfamily_Cyclophilin-like LOC256374 256374 genome.wustl.edu 37 3 138363491 138363491 + Missense_Mutation SNP C C T rs191635839 by1000genomes TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 XM_170597.7 -1 model p.V12I 0.035 47 0% 31 22.6% 0 - - - - HMMPfam_Pro_isomerase,superfamily_Cyclophilin-like MRPS22 56945 genome.wustl.edu 37 3 139062918 139062918 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_020191.2 +1 reviewed p.S17Y 0.000 146 0% 109 11% 15 6.6% benign(0.293) deleterious(0) deleterious(0.535) NULL ZIC4 84107 genome.wustl.edu 37 3 147120535 147120535 + Missense_Mutation SNP C C T rs148365070 by1000genomes TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000383075 -1 known p.R17Q 1.000 296 0% 300 31.7% 0 - possibly_damaging(0.756) tolerated(0.34) neutral(0.302) NULL HLTF 6596 genome.wustl.edu 37 3 148782627 148782627 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_003071.3 -1 reviewed p.M339I 0.063 706 0% 919 23.8% 3 0% benign(0) tolerated(1) - HMMPfam_SNF2_N,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases HPS3 84343 genome.wustl.edu 37 3 148872896 148872896 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_032383.3 +1 reviewed p.S468L 1.000 271 0.4% 280 29.6% 3 0% possibly_damaging(0.807) deleterious(0.01) deleterious(0.710) NULL CP 1356 genome.wustl.edu 37 3 148894139 148894139 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_000096.3 -1 reviewed p.E1027* 0.648 332 0% 340 24.1% 5 20% - - - superfamily_Cupredoxins,HMMPfam_Cu-oxidase_2 CP 1356 genome.wustl.edu 37 3 148896322 148896322 + Missense_Mutation SNP A A G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_000096.3 -1 reviewed p.F920L 1.000 418 0% 441 21.1% 5 40% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Cupredoxins WWTR1 25937 genome.wustl.edu 37 3 149374826 149374826 + Missense_Mutation SNP A A G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_015472.4 -1 validated p.S90P 1.000 14 0% 17 41.2% 1 0% probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL SUCNR1 56670 genome.wustl.edu 37 3 151599144 151599144 + Silent SNP C C T rs140738447 by1000genomes TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_033050.4 +1 reviewed p.V271 0.000 239 0% 294 27.9% 1 0% - - - HMMPfam_7tm_1,superfamily_SSF81321 SMC4 10051 genome.wustl.edu 37 3 160150988 160150988 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001002800.1 +1 validated p.F1235L 1.000 436 0% 481 31% 17 35.2% benign(0.001) tolerated(0.68) neutral(0.002) HMMPfam_SMC_N,superfamily_P-loop containing nucleoside triphosphate hydrolases TRIM59 286827 genome.wustl.edu 37 3 160156383 160156383 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_173084.2 -1 validated p.E197* 1.000 163 0% 149 23.5% 1 0% - - - NULL SPTSSB 165679 genome.wustl.edu 37 3 161063940 161063940 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001040100.1 -1 validated p.R58C 1.000 142 0% 214 24.8% 9 22.2% probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL BCHE 590 genome.wustl.edu 37 3 165547467 165547467 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_000055.2 -1 reviewed p.R452Q 1.000 224 0.4% 201 32.8% 0 - possibly_damaging(0.721) deleterious(0.04) deleterious(0.611) HMMPfam_COesterase,superfamily_SSF53474 ZBBX 79740 genome.wustl.edu 37 3 167000193 167000193 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_024687.2 -1 validated p.R657L 0.001 264 0% 280 19.6% 0 - possibly_damaging(0.738) deleterious(0) deleterious(0.715) NULL ARPM1 84517 genome.wustl.edu 37 3 169485701 169485701 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_032487.4 -1 validated p.E213A 1.000 362 0% 407 26.3% 3 33.3% benign(0.009) deleterious(0) neutral(0.445) HMMPfam_Actin,HMMSmart_ACTIN,superfamily_SSF53067 LRRIQ4 344657 genome.wustl.edu 37 3 169550828 169550828 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001080460.1 +1 provisional p.L463V 0.037 148 0% 199 25.1% 0 - probably_damaging(0.996) tolerated(0.13) deleterious(0.714) HMMPfam_LRR_1,superfamily_SSF52058 SLC7A14 57709 genome.wustl.edu 37 3 170185015 170185015 + Missense_Mutation SNP T T C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_020949.2 -1 validated p.E715G 1.000 114 0% 106 15.1% 0 - benign(0.001) tolerated(0.11) neutral(0.272) NULL SLC2A2 6514 genome.wustl.edu 37 3 170732471 170732471 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_000340.1 -1 reviewed p.R53Q 0.336 407 0% 504 22.8% 0 - probably_damaging(0.988) deleterious(0.02) deleterious(0.821) HMMPfam_Sugar_tr,superfamily_MFS_gen_substrate_transporter PEX5L 51555 genome.wustl.edu 37 3 179519713 179519713 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_016559.1 -1 provisional p.R595K 0.997 205 0% 246 28.9% 0 - benign(0.343) tolerated(0.19) neutral(0.158) superfamily_TPR-like PEX5L 51555 genome.wustl.edu 37 3 179519819 179519819 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_016559.1 -1 provisional p.E560* 1.000 213 0% 206 34% 0 - - - - HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like YEATS2 55689 genome.wustl.edu 37 3 183515763 183515763 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_018023.4 +1 validated p.T1050 0.004 223 0% 232 23.7% 6 16.6% - - - NULL LIPH 200879 genome.wustl.edu 37 3 185229439 185229439 + Silent SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_139248.2 -1 reviewed p.R381 0.993 299 0% 380 30% 3 66.6% - - - NULL IGF2BP2 10644 genome.wustl.edu 37 3 185376161 185376161 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_006548.4 -1 reviewed p.H413N 1.000 336 0% 477 26.2% 3 100% benign(0.03) tolerated(0.33) neutral(0.026) NULL MASP1 5648 genome.wustl.edu 37 3 186965163 186965163 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001031849.2 -1 reviewed p.I367 0.476 430 0% 509 22.4% 0 - - - - NULL ATP13A5 344905 genome.wustl.edu 37 3 193019085 193019085 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_198505.2 -1 provisional p.A897V 1.000 180 0% 213 11.3% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_SSF81665 HES1 3280 genome.wustl.edu 37 3 193854182 193854182 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_005524.2 +1 reviewed p.I5L 1.000 54 0% 30 60% 52 50% benign(0) tolerated(0.6) neutral(0.004) NULL MUC4 4585 genome.wustl.edu 37 3 195514359 195514359 + Silent SNP A A G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_018406.5 -1 reviewed p.T1364 0.000 45 0% 99 15.2% 1 0% - - - NULL MUC4 4585 genome.wustl.edu 37 3 195515030 195515030 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_018406.5 -1 reviewed p.D1141N 0.000 238 0.4% 353 9.3% 1 0% possibly_damaging(0.748) - - NULL ZNF141 7700 genome.wustl.edu 37 4 366624 366624 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000240499 +1 known p.F133C 0.018 381 0% 399 28.3% 2 0% benign(0.015) deleterious(0.05) neutral(0.346) NULL ZNF141 7700 genome.wustl.edu 37 4 366629 366629 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000240499 +1 known p.E135* 0.000 372 0% 388 23.7% 2 0% - - - NULL HTT 3064 genome.wustl.edu 37 4 3127284 3127284 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_002111.6 +1 reviewed p.L444F 1.000 196 0% 221 20.4% 3 33.3% benign(0.103) tolerated(0.1) neutral(0.294) superfamily_ARM repeat CYTL1 54360 genome.wustl.edu 37 4 5016914 5016914 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000509419 -1 known p.S81F 0.004 327 0% 331 18.1% 2 0% - - - NULL WFS1 7466 genome.wustl.edu 37 4 6302537 6302537 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_006005.3 +1 reviewed p.D339N 1.000 615 0% 666 25.2% 58 43.1% probably_damaging(0.954) deleterious(0.03) deleterious(0.762) NULL MAN2B2 23324 genome.wustl.edu 37 4 6619139 6619139 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_015274.1 +1 validated p.R912C 0.887 65 0% 71 39.4% 48 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Galactose mutarotase-like,HMMPfam_Glyco_hydro_38C HS3ST1 9957 genome.wustl.edu 37 4 11401052 11401052 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_005114.2 -1 reviewed p.R193H 1.000 53 0% 50 40% 19 47.3% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Sulfotransfer_1,superfamily_P-loop containing nucleoside triphosphate hydrolases NCAPG 64151 genome.wustl.edu 37 4 17825383 17825383 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_022346.3 +1 validated p.R458I 0.994 267 0% 210 27.1% 0 - benign(0.355) deleterious(0.02) deleterious(0.495) superfamily_ARM-type_fold SLIT2 9353 genome.wustl.edu 37 4 20619271 20619271 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_004787.1 +1 provisional p.R1449Q 0.975 110 0% 126 24.6% 4 50% benign(0.002) tolerated(0.67) neutral(0.003) superfamily_EGF/Laminin GPR125 166647 genome.wustl.edu 37 4 22463422 22463422 + Silent SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_145290.2 -1 validated p.R113 1.000 161 0% 179 30.7% 0 - - - - HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like SEL1L3 23231 genome.wustl.edu 37 4 25783981 25783981 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_015187.3 -1 validated p.Y780 0.991 446 0% 508 23% 59 40.6% - - - HMMPfam_Sel1,HMMSmart_SM00671,superfamily_HCP-like PCDH7 5099 genome.wustl.edu 37 4 30725840 30725840 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_032457.3 +1 reviewed p.K885N 1.000 240 0% 267 22.1% 2 50% benign(0.02) tolerated(0.72) neutral(0.003) HMMPfam_Protocadherin DTHD1 401124 genome.wustl.edu 37 4 36296613 36296613 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001136536.3 +1 validated p.R242I 0.056 330 0% 364 25.5% 0 - probably_damaging(0.995) deleterious(0.02) deleterious(0.841) NULL KIAA1239 57495 genome.wustl.edu 37 4 37446022 37446022 + Silent SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001144990.1 +1 validated p.A804 0.993 103 0% 103 24.3% 0 - - - - NULL PGM2 55276 genome.wustl.edu 37 4 37850190 37850190 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_018290.3 +1 validated p.A444T 1.000 308 0% 374 20.6% 10 0% possibly_damaging(0.586) deleterious(0.05) deleterious(0.547) superfamily_A-D-PHexomutase_a/b/a-I/II/III TLR10 81793 genome.wustl.edu 37 4 38775668 38775668 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001017388.1 -1 reviewed p.K515T 0.000 111 0% 137 22.6% 2 0% possibly_damaging(0.946) deleterious(0.02) deleterious(0.773) superfamily_SSF52058 TLR6 10333 genome.wustl.edu 37 4 38830555 38830555 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_006068.3 -1 validated p.N180K 0.000 133 0% 90 41.1% 0 - possibly_damaging(0.936) tolerated(0.07) deleterious(0.701) superfamily_SSF52058 WDR19 57728 genome.wustl.edu 37 4 39188217 39188217 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_025132.3 +1 reviewed p.L53V 1.000 134 0% 174 36.8% 2 50% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00320,superfamily_WD40 repeat-like N4BP2 55728 genome.wustl.edu 37 4 40127829 40127829 + Missense_Mutation SNP T T C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_018177.3 +1 reviewed p.L1469P 0.966 229 0% 231 22.5% 0 - probably_damaging(0.996) deleterious(0.02) deleterious(0.845) NULL GRXCR1 389207 genome.wustl.edu 37 4 43032469 43032469 + Missense_Mutation SNP G G A rs146696590 by1000genomes TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001080476.1 +1 provisional p.R262Q 1.000 213 0% 225 28.4% 0 - probably_damaging(1) deleterious(0.03) deleterious(0.865) superfamily_HSP_DnaJ_cys-rich GABRA4 2557 genome.wustl.edu 37 4 46976326 46976326 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_000809.2 -1 reviewed p.P215L 1.000 237 0% 271 26.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Neur_chan_LBD,superfamily_Neur_chan_LBD ATP10D 57205 genome.wustl.edu 37 4 47548710 47548710 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_020453.3 +1 validated p.S489Y 0.574 240 0% 212 30.2% 1 0% benign(0.004) tolerated(0.12) neutral(0.261) superfamily_HAD-like TXK 7294 genome.wustl.edu 37 4 48096187 48096187 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_003328.2 -1 validated p.K206Q 0.096 313 0% 342 24.6% 1 100% benign(0.109) tolerated(0.23) neutral(0.050) HMMPfam_SH2,HMMSmart_SH2,superfamily_SSF55550 STAP1 26228 genome.wustl.edu 37 4 68449348 68449348 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_012108.2 +1 reviewed p.S196Y 0.984 194 0% 241 21.6% 1 0% probably_damaging(0.982) tolerated(0.05) deleterious(0.772) HMMSmart_SM00252,superfamily_SH2 domain TMPRSS11A 339967 genome.wustl.edu 37 4 68810245 68810245 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_182606.3 -1 validated p.E82K 0.085 576 0.2% 619 20.7% 0 - benign(0.008) tolerated(0.33) neutral(0.024) HMMPfam_SEA,superfamily_SEA domain TMPRSS11F 389208 genome.wustl.edu 37 4 68956245 68956245 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_207407.2 -1 validated p.R93I 1.000 284 0% 298 25.5% 0 - possibly_damaging(0.805) tolerated(0.11) deleterious(0.575) HMMPfam_SEA,HMMSmart_SEA,superfamily_SSF82671 UGT2B10 7365 genome.wustl.edu 37 4 69693259 69693259 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001075.4 +1 validated p.D434Y 0.748 523 0% 556 17.3% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase UGT2A1 10941 genome.wustl.edu 37 4 70513122 70513122 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_006798.2 -1 validated p.E81* 0.979 175 0% 219 26% 0 - - - - HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase SULT1E1 6783 genome.wustl.edu 37 4 70707715 70707715 + Silent SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000506796 -1 known p.S127Y 0.980 348 0.3% 354 23.4% 0 - - - - NULL STATH 6779 genome.wustl.edu 37 4 70865523 70865523 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_003154.2 +1 validated p.F33 0.000 709 0.1% 777 26.5% 3 66.6% - - - HMMPfam_Statherin ENAM 10117 genome.wustl.edu 37 4 71510105 71510105 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_031889.2 +1 reviewed p.N988H 0.913 169 0% 245 16.3% 0 - possibly_damaging(0.508) deleterious(0) deleterious(0.615) NULL UTP3 57050 genome.wustl.edu 37 4 71554872 71554872 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_020368.2 +1 validated p.E160* 1.000 51 0% 51 13.7% 13 15.3% - - - NULL AFM 173 genome.wustl.edu 37 4 74351743 74351743 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001133.2 +1 reviewed p.E145D 0.996 270 0% 269 29.4% 0 - probably_damaging(0.996) tolerated(0.52) deleterious(0.470) superfamily_Serum albumin-like,HMMPfam_Serum_albumin,HMMSmart_SM00103 CXCL1 2919 genome.wustl.edu 37 4 74735437 74735437 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001511.2 +1 validated p.G51E 0.158 175 0% 185 30.3% 13 7.6% probably_damaging(0.999) tolerated(0.2) deleterious(0.539) HMMPfam_IL8,HMMSmart_SCY,superfamily_Chemokine_IL8,PatternScan_SMALL_CYTOKINES_CXC PPEF2 5470 genome.wustl.edu 37 4 76804329 76804329 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_006239.2 -1 reviewed p.N258T 0.155 453 0% 455 20.4% 0 - benign(0) tolerated(0.7) neutral(0.002) HMMPfam_Metallophos,HMMSmart_SM00156,superfamily_Metallo-dependent phosphatases CCDC158 339965 genome.wustl.edu 37 4 77255228 77255228 + Silent SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001042784.1 -1 validated p.P919 0.091 362 0% 364 20.3% 0 - - - - NULL ENOPH1 58478 genome.wustl.edu 37 4 83375878 83375878 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_021204.3 +1 validated p.F131L 1.000 592 0% 654 19.3% 26 53.8% benign(0) tolerated(0.14) neutral(0.249) HMMPfam_Hydrolase,superfamily_HAD-like COPS4 51138 genome.wustl.edu 37 4 83987668 83987668 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_016129.2 +1 reviewed p.E322K 1.000 144 0% 143 22.4% 16 31.2% benign(0.268) tolerated(0.08) neutral(0.329) "HMMPfam_PCI,HMMSmart_SM00088,superfamily_""Winged helix"" DNA-binding domain" NUDT9 53343 genome.wustl.edu 37 4 88379123 88379123 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_024047.3 +1 validated p.R335* 0.991 120 0% 168 26.2% 72 30.5% - - - superfamily_Nudix IBSP 3381 genome.wustl.edu 37 4 88732594 88732594 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_004967.3 +1 reviewed p.N162 0.851 251 0.8% 463 27.9% 0 - - - - HMMPfam_BSP_II GRID2 2895 genome.wustl.edu 37 4 93225881 93225881 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001510.2 +1 validated p.S25L 1.000 420 0% 421 27.1% 0 - benign(0.061) deleterious(0.04) neutral(0.353) superfamily_SSF53822 SMARCAD1 56916 genome.wustl.edu 37 4 95173975 95173975 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001128429.1 +1 validated p.V366 0.299 208 0% 238 29.8% 6 0% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases SMARCAD1 56916 genome.wustl.edu 37 4 95200148 95200148 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001128429.1 +1 validated p.R791C 1.000 382 0% 473 23.5% 14 21.4% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PDLIM5 10611 genome.wustl.edu 37 4 95575749 95575749 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_006457.3 +1 reviewed p.F474L 1.000 379 0.3% 369 26.3% 23 34.7% benign(0.019) tolerated(0.21) neutral(0.045) HMMPfam_LIM,superfamily_Glucocorticoid receptor-like (DNA-binding domain) METAP1 23173 genome.wustl.edu 37 4 99960603 99960603 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_015143.2 +1 validated p.R140Q 1.000 390 0% 469 20.7% 11 27.2% probably_damaging(0.992) deleterious(0) deleterious(0.892) HMMPfam_Peptidase_M24,superfamily_Creatinase/aminopeptidase ADH6 130 genome.wustl.edu 37 4 100134871 100134871 + Missense_Mutation SNP T T C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001102470.1 -1 reviewed p.K52E 0.000 186 0% 220 35% 0 - possibly_damaging(0.623) deleterious(0.01) deleterious(0.623) superfamily_GroES_like,HMMPfam_ADH_N ADH1C 126 genome.wustl.edu 37 4 100264036 100264036 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_000669.3 -1 reviewed p.K248N 0.058 772 0% 832 27.2% 3 0% benign(0.001) tolerated(0.15) neutral(0.241) HMMPfam_ADH_zinc_N,superfamily_NAD(P)-binding Rossmann-fold domains SLC9B2 133308 genome.wustl.edu 37 4 103950001 103950001 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_178833.4 -1 validated p.R432Q 0.987 157 0% 208 21.2% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Na_H_Exchanger CENPE 1062 genome.wustl.edu 37 4 104116372 104116372 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001813.2 -1 validated p.L126I 1.000 241 0% 205 33.2% 0 - probably_damaging(0.995) deleterious(0.04) deleterious(0.806) HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases CYP2U1 113612 genome.wustl.edu 37 4 108868686 108868686 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_183075.2 +1 reviewed p.E427D 0.881 107 0% 142 17.6% 3 33.3% possibly_damaging(0.932) deleterious(0.04) deleterious(0.728) HMMPfam_p450,superfamily_Cytochrome P450 COL25A1 84570 genome.wustl.edu 37 4 110222903 110222903 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_198721.1 -1 validated p.E91D 1.000 265 0% 239 23.8% 0 - unknown(0) tolerated(0.09) - NULL EGF 1950 genome.wustl.edu 37 4 110882147 110882147 + Splice_Site SNP T T C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001963.4 +1 reviewed e7+2 1.000 541 0% 556 27.9% 1 100% - - - - ENPEP 2028 genome.wustl.edu 37 4 111397763 111397763 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001977.3 +1 validated p.A65T 0.000 143 0% 142 20.4% 2 0% benign(0) tolerated(0.56) neutral(0.006) NULL PITX2 5308 genome.wustl.edu 37 4 111539584 111539584 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000394595 -1 known p.L149I 1.000 175 1.1% 280 22.9% 1 100% unknown(0) - - NULL ALPK1 80216 genome.wustl.edu 37 4 113352097 113352097 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001102406.1 +1 validated p.S465L 0.820 144 0% 191 19.9% 6 33.3% benign(0.277) deleterious(0) deleterious(0.474) NULL C4orf21 55345 genome.wustl.edu 37 4 113460713 113460713 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000505019 -1 known p.S2102Y 0.091 424 0% 424 26.4% 0 - unknown(0) deleterious(0) - NULL PDE5A 8654 genome.wustl.edu 37 4 120517710 120517710 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001083.3 -1 reviewed p.L267I 1.000 507 0% 548 30.8% 4 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_GAF,HMMSmart_SM00065,superfamily_GAF domain-like KIAA1109 84162 genome.wustl.edu 37 4 123275097 123275097 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_015312.3 +1 reviewed p.R4744C 1.000 233 0% 237 23.2% 15 13.3% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_FSA_C ADAD1 132612 genome.wustl.edu 37 4 123342498 123342498 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_139243.3 +1 validated p.E524* 1.000 289 0% 260 24.2% 0 - - - - HMMPfam_A_deamin,HMMSmart_SM00552 IL21 59067 genome.wustl.edu 37 4 123542070 123542070 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_021803.2 -1 validated p.D33Y 0.951 350 0% 414 22.7% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL SPATA5 166378 genome.wustl.edu 37 4 124011824 124011824 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_145207.2 +1 validated p.I768M 0.869 268 0% 284 26.4% 0 - benign(0.169) deleterious(0) neutral(0.460) HMMSmart_SM00382,HMMPfam_AAA,PatternScan_AAA,superfamily_P-loop containing nucleoside triphosphate hydrolases ANKRD50 57182 genome.wustl.edu 37 4 125593513 125593513 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_020337.2 -1 validated p.E307* 1.000 197 0% 189 30.7% 0 - - - - NULL FAT4 79633 genome.wustl.edu 37 4 126240606 126240606 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_024582.4 +1 validated p.R1014* 0.976 147 0% 122 23.8% 0 - - - - HMMPfam_Cadherin,superfamily_Cadherin-like FAT4 79633 genome.wustl.edu 37 4 126369858 126369858 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_024582.4 +1 validated p.D2563N 0.999 156 0% 158 19.6% 0 - benign(0.177) tolerated(0.69) neutral(0.019) HMMSmart_SM00112 FAT4 79633 genome.wustl.edu 37 4 126371593 126371593 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_024582.4 +1 validated p.S3141Y 0.472 120 0% 118 16.1% 0 - benign(0.241) deleterious(0.03) neutral(0.389) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like ELF2 1998 genome.wustl.edu 37 4 140058853 140058853 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_201999.1 -1 validated p.M1I 1.000 331 0% 391 25.1% 2 100% benign(0.195) deleterious(0) neutral(0.463) NULL MAML3 55534 genome.wustl.edu 37 4 140812013 140812013 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_018717.4 -1 validated p.R193* 1.000 197 0% 229 24.9% 2 100% - - - NULL TBC1D9 23158 genome.wustl.edu 37 4 141600931 141600931 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_015130.2 -1 validated p.E143* 1.000 238 0.4% 296 28.4% 4 0% - - - NULL SMARCA5 8467 genome.wustl.edu 37 4 144445600 144445600 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_003601.2 +1 reviewed p.R167Q 1.000 230 0% 262 22.5% 12 25% benign(0.296) tolerated(0.37) neutral(0.111) superfamily_SSF52540 FREM3 166752 genome.wustl.edu 37 4 144507037 144507037 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000329798 -1 known p.I2046 0.119 253 0% 254 26.8% 0 - - - - HMMPfam_Calx-beta,HMMSmart_SM00237 OTUD4 54726 genome.wustl.edu 37 4 146058955 146058955 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001102653.1 -1 reviewed p.K926T 0.990 266 0% 228 29.8% 9 33.3% possibly_damaging(0.68) deleterious(0.01) deleterious(0.648) NULL FBXW7 55294 genome.wustl.edu 37 4 153249384 153249384 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_033632.2 -1 reviewed p.R465H 1.000 322 0% 362 24% 6 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 FGB 2244 genome.wustl.edu 37 4 155488924 155488924 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_005141.4 +1 reviewed p.R224C 0.993 137 0% 163 28.8% 0 - probably_damaging(0.992) deleterious(0) deleterious(0.892) HMMPfam_Fib_beta FGA 2243 genome.wustl.edu 37 4 155505308 155505308 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_000508.3 -1 reviewed p.R857C 0.996 106 0% 93 25.8% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Fibrinogen_C,HMMSmart_SM00186,superfamily_Fibrinogen C-terminal domain-like FGA 2243 genome.wustl.edu 37 4 155507480 155507480 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_000508.3 -1 reviewed p.R367 0.000 198 0% 113 18.6% 0 - - - - HMMPfam_Fib_alpha FGG 2266 genome.wustl.edu 37 4 155530921 155530921 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000407946 -1 known p.S184Y 0.790 180 0% 171 25.1% 0 - benign(0.095) tolerated(0.72) neutral(0.009) HMMSmart_SM00186,superfamily_Fibrinogen C-terminal domain-like GUCY1A3 2982 genome.wustl.edu 37 4 156634504 156634504 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_000856.4 +1 validated p.K447N 1.000 184 0% 203 22.7% 7 14.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_CYCc,HMMPfam_HNOBA FSTL5 56884 genome.wustl.edu 37 4 162402188 162402188 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_020116.3 -1 validated p.S531F 1.000 160 0% 139 25.9% 0 - possibly_damaging(0.873) deleterious(0.03) deleterious(0.704) superfamily_Amine_DH_B_like NPY1R 4886 genome.wustl.edu 37 4 164246831 164246831 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_000909.4 -1 validated p.R260I 1.000 265 0% 337 25.2% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like TKTL2 84076 genome.wustl.edu 37 4 164394337 164394337 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_032136.4 -1 validated p.D184N 0.980 102 0% 76 27.6% 0 - probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_Transketolase_N,superfamily_SSF52518 DDX60 55601 genome.wustl.edu 37 4 169167739 169167739 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_017631.5 -1 validated p.D1332N 0.978 148 0% 151 17.9% 21 38% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_P-loop containing nucleoside triphosphate hydrolases CLCN3 1182 genome.wustl.edu 37 4 170610362 170610362 + Nonsense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_173872.2 +1 validated p.L196* 0.993 238 0% 320 27.2% 5 20% - - - superfamily_Cl-channel_core CLCN3 1182 genome.wustl.edu 37 4 170628207 170628207 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_173872.2 +1 validated p.E647* 1.000 325 0% 331 26.9% 6 16.6% - - - NULL GALNT7 51809 genome.wustl.edu 37 4 174213410 174213410 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_017423.2 +1 reviewed p.D247N 1.000 244 0% 248 25.8% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Glycos_transf_2,superfamily_Nucleotide-diphospho-sugar transferases GPM6A 2823 genome.wustl.edu 37 4 176733401 176733401 + Splice_Site SNP C C A rs75902123 byFrequency TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_005277.3 -1 validated e1-1 1.000 350 0% 322 29.8% 0 - - - - - WDR17 116966 genome.wustl.edu 37 4 177067183 177067183 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_170710.4 +1 reviewed p.R547C 1.000 281 0% 336 20.5% 0 - probably_damaging(1) deleterious(0.05) deleterious(0.845) HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40 WDR17 116966 genome.wustl.edu 37 4 177069291 177069291 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_170710.4 +1 reviewed p.R592* 1.000 327 0% 383 26.9% 0 - - - - HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40 WWC2 80014 genome.wustl.edu 37 4 184205512 184205512 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_024949.5 +1 validated p.S1006Y 1.000 136 0% 172 27.3% 5 20% probably_damaging(1) deleterious(0) deleterious(0.945) NULL STOX2 56977 genome.wustl.edu 37 4 184930789 184930789 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_020225.1 +1 provisional p.F266 0.831 49 0% 45 22.2% 0 - - - - NULL ACSL1 2180 genome.wustl.edu 37 4 185678386 185678386 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001995.2 -1 reviewed p.S664A 0.949 129 0% 114 26.3% 21 38% benign(0.045) deleterious(0.01) neutral(0.408) superfamily_Acetyl-CoA synthetase-like CCDC110 256309 genome.wustl.edu 37 4 186379838 186379838 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_152775.3 -1 validated p.E635* 0.059 273 0% 282 27% 2 0% - - - NULL TLR3 7098 genome.wustl.edu 37 4 187005911 187005911 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_003265.2 +1 reviewed p.R867* 0.944 160 0% 188 30.3% 33 45.4% - - - HMMPfam_TIR,HMMSmart_TIR,superfamily_TIR TRIML1 339976 genome.wustl.edu 37 4 189068180 189068180 + Missense_Mutation SNP A A G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_178556.3 +1 provisional p.E354G 0.998 119 0% 149 24.2% 0 - probably_damaging(0.999) tolerated(0.42) deleterious(0.504) HMMPfam_SPRY,HMMSmart_SPRY SLC9A3 6550 genome.wustl.edu 37 5 476387 476387 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_004174.2 -1 validated p.S666L 0.998 233 0% 173 16.8% 3 0% probably_damaging(0.97) deleterious(0.05) deleterious(0.758) NULL SLC6A19 340024 genome.wustl.edu 37 5 1201864 1201864 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001003841.2 +1 reviewed p.P33 0.998 51 0% 58 34.5% 0 - - - - HMMPfam_SNF IRX1 79192 genome.wustl.edu 37 5 3600751 3600751 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_024337.3 +1 validated p.S447 0.991 48 0% 52 26.9% 0 - - - - NULL ADAMTS16 170690 genome.wustl.edu 37 5 5239993 5239993 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_139056.2 +1 reviewed p.E826D 1.000 129 0% 87 39.1% 0 - probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_ADAM_spacer1 KIAA0947 23379 genome.wustl.edu 37 5 5463178 5463178 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_015325.1 +1 validated p.S1244L 0.000 88 0% 91 11% 1 0% benign(0.039) deleterious(0.04) neutral(0.351) NULL NSUN2 54888 genome.wustl.edu 37 5 6600283 6600283 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_017755.4 -1 validated p.R687Q 0.998 245 0% 244 23% 33 24.2% possibly_damaging(0.941) deleterious(0) deleterious(0.831) NULL ADCY2 108 genome.wustl.edu 37 5 7717330 7717330 + Silent SNP T T C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_020546.2 +1 reviewed p.I561 0.999 335 0% 380 22.9% 0 - - - - HMMPfam_DUF1053 SEMA5A 9037 genome.wustl.edu 37 5 9054352 9054352 + Missense_Mutation SNP A A G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_003966.2 -1 reviewed p.C846R 1.000 82 0% 112 33.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TSP_1,HMMSmart_TSP1,superfamily_TSP1 MARCH6 10299 genome.wustl.edu 37 5 10405703 10405703 + Missense_Mutation SNP A A T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_005885.2 +1 provisional p.N456Y 1.000 366 0% 388 27.6% 25 60% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CTNND2 1501 genome.wustl.edu 37 5 11364815 11364815 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001332.2 -1 validated p.T455 1.000 109 0% 116 32.8% 10 40% - - - NULL DNAH5 1767 genome.wustl.edu 37 5 13708294 13708294 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001369.2 -1 reviewed p.E4426K 1.000 266 0% 301 22.9% 0 - benign(0.049) tolerated(0.18) neutral(0.059) HMMPfam_Dynein_heavy DNAH5 1767 genome.wustl.edu 37 5 13786422 13786422 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001369.2 -1 reviewed p.I2896L 0.992 271 0% 295 28.1% 0 - benign(0.004) tolerated(0.28) neutral(0.032) superfamily_SSF52540 DNAH5 1767 genome.wustl.edu 37 5 13841194 13841194 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001369.2 -1 reviewed p.E1844* 1.000 496 0% 448 13.2% 0 - - - - NULL MARCH11 441061 genome.wustl.edu 37 5 16067799 16067799 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001102562.1 -1 provisional p.I330 0.991 233 0% 245 26.1% 0 - - - - NULL PRDM9 56979 genome.wustl.edu 37 5 23522833 23522833 + Missense_Mutation SNP A A G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_020227.2 +1 provisional p.S241G 0.997 198 0% 141 20.6% 0 - benign(0.053) deleterious(0) neutral(0.448) superfamily_SSF82199 PRDM9 56979 genome.wustl.edu 37 5 23527040 23527040 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_020227.2 +1 provisional p.R615W 0.991 159 0.6% 124 19.4% 0 - benign(0) deleterious(0) neutral(0.445) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 LOC729862 729862 genome.wustl.edu 37 5 28927117 28927117 + RNA SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 XR_040872.2 +1 model NULL 0.490 169 0% 190 21.1% 0 - - - - - CDH6 1004 genome.wustl.edu 37 5 31316323 31316323 + Missense_Mutation SNP A A G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_004932.2 +1 reviewed p.K467E 0.994 122 0.8% 149 16.8% 0 - possibly_damaging(0.932) tolerated(0.96) neutral(0.379) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like BRIX1 55299 genome.wustl.edu 37 5 34923142 34923142 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_018321.3 +1 validated p.E183K 1.000 469 0% 493 19.3% 18 22.2% probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_Brix UGT3A2 167127 genome.wustl.edu 37 5 36052021 36052021 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_174914.3 -1 validated p.E88* 0.001 156 0% 167 28.1% 0 - - - - HMMPfam_UDPGT,superfamily_SSF53756 RANBP3L 202151 genome.wustl.edu 37 5 36260953 36260953 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_145000.3 -1 validated p.E200* 1.000 118 0% 117 17.9% 0 - - - - NULL FYB 2533 genome.wustl.edu 37 5 39141211 39141211 + Missense_Mutation SNP A A G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001465.3 -1 validated p.V442A 0.034 140 0% 239 23.4% 3 0% benign(0) deleterious(0) neutral(0.445) NULL C9 735 genome.wustl.edu 37 5 39341366 39341366 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001737.3 -1 reviewed p.N120H 0.970 140 0% 173 26.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ldl_recept_a,HMMSmart_LDLa,PatternScan_LDLRA_1,superfamily_LDL_rcpt_classA_cys-rich PRKAA1 5562 genome.wustl.edu 37 5 40777567 40777567 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_206907.3 -1 reviewed p.R83 1.000 352 0.3% 331 23.3% 9 22.2% - - - HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase C7 730 genome.wustl.edu 37 5 40950023 40950023 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_000587.2 +1 reviewed p.E334* 0.000 306 0% 326 22.7% 2 0% - - - HMMPfam_MACPF,HMMSmart_MACPF OXCT1 5019 genome.wustl.edu 37 5 41801159 41801159 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_000436.3 -1 reviewed p.R355Q 0.006 291 0.3% 333 24.6% 27 44.4% benign(0.232) tolerated(0.45) neutral(0.035) HMMPfam_CoA_trans,superfamily_SSF100950 DHX29 54505 genome.wustl.edu 37 5 54592117 54592117 + Missense_Mutation SNP T T C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_019030.2 -1 validated p.T146A 1.000 150 0% 203 24.6% 3 0% possibly_damaging(0.664) tolerated(0.06) deleterious(0.557) NULL MAP3K1 4214 genome.wustl.edu 37 5 56152446 56152446 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_005921.1 +1 validated p.E168* 1.000 211 0% 202 28.7% 1 0% - - - NULL ACTBL2 345651 genome.wustl.edu 37 5 56778160 56778160 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001017992.2 -1 validated p.F125 0.707 167 0% 188 28.7% 0 - - - - HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain HTR1A 3350 genome.wustl.edu 37 5 63256319 63256319 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_000524.2 -1 validated p.A410T 1.000 119 0% 140 27.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Family A G protein-coupled receptor-like CD180 4064 genome.wustl.edu 37 5 66479055 66479055 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_005582.2 -1 validated p.S539Y 0.425 117 0% 93 21.5% 3 0% benign(0.135) tolerated(0.5) neutral(0.021) HMMSmart_SM00369,superfamily_L domain-like PIK3R1 5295 genome.wustl.edu 37 5 67588927 67588928 + Splice_Site INS - - G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_181523.1 +1 reviewed e8-1 1.000:1.000 - - - - - - - - - - PIK3R1 5295 genome.wustl.edu 37 5 67592108 67592108 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_181523.1 +1 reviewed p.R642* 0.990 268 0% 352 27.8% 63 26.9% - - - HMMPfam_SH2,HMMSmart_SM00252,superfamily_SH2 domain BDP1 55814 genome.wustl.edu 37 5 70818130 70818130 + Missense_Mutation SNP C C T rs34529158 byCluster;by1000genomes TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_018429.2 +1 reviewed p.P1669L 0.000 68 1.5% 151 29.1% 3 100% benign(0) tolerated(0.11) neutral(0.272) NULL BDP1 55814 genome.wustl.edu 37 5 70855917 70855917 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_018429.2 +1 reviewed p.R2450I 0.000 219 0% 261 21.1% 3 0% possibly_damaging(0.852) tolerated(0.28) neutral(0.359) NULL MAP1B 4131 genome.wustl.edu 37 5 71495921 71495921 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_005909.3 +1 validated p.K2247Q 1.000 71 0% 81 25.9% 5 0% unknown(0) deleterious(0.04) - NULL PTCD2 79810 genome.wustl.edu 37 5 71631709 71631709 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_024754.3 +1 validated p.K212N 1.000 318 0% 275 24% 1 0% probably_damaging(0.988) deleterious(0) deleterious(0.882) NULL UTP15 84135 genome.wustl.edu 37 5 72875811 72875811 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000509005 +1 known p.P510L 1.000 250 0% 326 20.2% 5 40% - - - HMMPfam_U3_snoRNA_C FAM169A 26049 genome.wustl.edu 37 5 74130379 74130379 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_015566.1 -1 validated p.R121Q 1.000 234 0% 269 16% 0 - probably_damaging(1) tolerated(0.24) deleterious(0.537) NULL ANKRD31 256006 genome.wustl.edu 37 5 74442059 74442059 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000274361 -1 known p.K1059N 0.000 233 0% 209 28.2% 0 - possibly_damaging(0.495) deleterious(0) deleterious(0.610) superfamily_ANK POLK 51426 genome.wustl.edu 37 5 74892605 74892605 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_016218.2 +1 validated p.S696Y 0.004 94 0% 52 26.9% 9 22.2% unknown(0) deleterious(0) - NULL SV2C 22987 genome.wustl.edu 37 5 75581081 75581081 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000510301 +1 known p.P67S 0.967 477 0% 456 21.7% 0 - - - - HMMPfam_Sugar_tr,superfamily_MFS general substrate transporter F2RL1 2150 genome.wustl.edu 37 5 76129272 76129272 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_005242.4 +1 validated p.K280N 1.000 192 0.5% 180 28.3% 45 42.2% possibly_damaging(0.952) tolerated(0.15) deleterious(0.637) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like S100Z 170591 genome.wustl.edu 37 5 76173562 76173562 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_130772.3 +1 validated p.E69K 1.000 438 0% 517 31.5% 0 - benign(0.02) tolerated(0.43) neutral(0.014) PatternScan_S100_CABP,HMMSmart_SM00054,PatternScan_EF_HAND_1,HMMPfam_efhand,superfamily_EF-hand AGGF1 55109 genome.wustl.edu 37 5 76351386 76351386 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_018046.3 +1 validated p.E561* 1.000 257 0% 301 18.6% 7 14.2% - - - NULL PDE8B 8622 genome.wustl.edu 37 5 76703223 76703223 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_003719.2 +1 validated p.R436C 0.999 104 1% 111 33.3% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL JMY 133746 genome.wustl.edu 37 5 78573832 78573832 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_152405.4 +1 validated p.E378K 1.000 175 0% 226 28.8% 2 50% probably_damaging(0.978) tolerated(0.27) neutral(0.454) NULL PAPD4 167153 genome.wustl.edu 37 5 78936767 78936767 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001114393.1 +1 validated p.E187* 1.000 174 0% 222 27.5% 7 14.2% - - - superfamily_Nucleotidyltransferase CMYA5 202333 genome.wustl.edu 37 5 79024982 79024982 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_153610.3 +1 validated p.R132W 0.987 375 0% 475 26.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL CMYA5 202333 genome.wustl.edu 37 5 79031216 79031216 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_153610.3 +1 validated p.V2210I 0.406 43 0% 46 32.6% 0 - possibly_damaging(0.666) deleterious(0) deleterious(0.680) NULL CMYA5 202333 genome.wustl.edu 37 5 79033484 79033484 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_153610.3 +1 validated p.D2966N 1.000 45 0% 48 25% 0 - probably_damaging(0.988) deleterious(0) deleterious(0.882) NULL ANKRD34B 340120 genome.wustl.edu 37 5 79855264 79855264 + Missense_Mutation SNP T T C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001004441.2 -1 validated p.K192R 0.695 407 0% 508 25% 0 - probably_damaging(0.982) tolerated(0.54) neutral(0.434) NULL RASGRF2 5924 genome.wustl.edu 37 5 80369246 80369246 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_006909.1 +1 validated p.D288N 0.998 213 0.9% 189 32.3% 1 0% probably_damaging(0.998) deleterious(0.04) deleterious(0.823) HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) VCAN 1462 genome.wustl.edu 37 5 82816085 82816085 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_004385.4 +1 reviewed p.E654* 0.073 267 0% 211 21.8% 0 - - - - NULL VCAN 1462 genome.wustl.edu 37 5 82833155 82833155 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_004385.4 +1 reviewed p.D1445N 0.625 89 0% 87 17.2% 3 0% possibly_damaging(0.87) - - NULL VCAN 1462 genome.wustl.edu 37 5 82833726 82833726 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_004385.4 +1 reviewed p.S1635L 0.549 97 0% 91 35.2% 0 - probably_damaging(0.989) - - NULL RASA1 5921 genome.wustl.edu 37 5 86672809 86672809 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_002890.1 +1 reviewed p.E766* 1.000 283 0% 413 25.4% 6 0% - - - HMMSmart_SM00323,superfamily_GTPase activation domain GAP GPR98 84059 genome.wustl.edu 37 5 89985786 89985786 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_032119.3 +1 reviewed p.S2200Y 1.000 247 0% 320 22.2% 0 - possibly_damaging(0.558) tolerated(1) neutral(0.191) HMMPfam_Calx-beta,HMMSmart_SM00237 GPR98 84059 genome.wustl.edu 37 5 90149256 90149256 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_032119.3 +1 reviewed p.A5787V 0.026 236 0% 256 29.3% 1 100% benign(0.033) tolerated(0.14) neutral(0.251) NULL RHOBTB3 22836 genome.wustl.edu 37 5 95091321 95091321 + Missense_Mutation SNP A A G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_014899.3 +1 validated p.T302A 0.100 286 0% 246 26.8% 6 33.3% benign(0) tolerated(0.42) neutral(0.014) HMMSmart_BTB CAST 831 genome.wustl.edu 37 5 96093331 96093331 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001750.5 +1 reviewed p.F602L 0.807 429 0% 410 28.3% 84 44% possibly_damaging(0.882) tolerated(0.07) deleterious(0.663) HMMPfam_Calpain_inhib ERAP1 51752 genome.wustl.edu 37 5 96112154 96112154 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_016442.3 -1 validated p.K924N 1.000 535 0% 522 26.2% 74 44.5% possibly_damaging(0.748) tolerated(0.35) neutral(0.295) NULL GIN1 54826 genome.wustl.edu 37 5 102442572 102442572 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_017676.2 -1 validated p.R61C 1.000 220 0% 202 28.2% 2 100% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL MAN2A1 4124 genome.wustl.edu 37 5 109155562 109155562 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_002372.2 +1 reviewed p.R768W 0.000 88 0% 111 23.4% 4 50% benign(0) deleterious(0.03) neutral(0.364) superfamily_Gal_mut_like,HMMPfam_Glyco_hydro_38C APC 324 genome.wustl.edu 37 5 112177354 112177354 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_000038.4 +1 reviewed p.F2021L 1.000 169 0.6% 199 26.1% 1 0% probably_damaging(0.987) deleterious(0.01) deleterious(0.842) HMMPfam_APC_crr DCP2 167227 genome.wustl.edu 37 5 112343646 112343646 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000513585 +1 known p.E300* 0.969 236 0% 298 21.5% 1 0% benign(0.013) tolerated(0.06) neutral(0.323) NULL MCC 4163 genome.wustl.edu 37 5 112384781 112384781 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000514701 -1 known p.P568 0.000 66 0% 48 20.8% 0 - - - - NULL TRIM36 55521 genome.wustl.edu 37 5 114469587 114469587 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_018700.3 -1 reviewed p.E502* 1.000 232 0% 224 27.2% 0 - - - - superfamily_Fibronectin type III ALDH7A1 501 genome.wustl.edu 37 5 125919662 125919662 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001182.3 -1 reviewed p.D119N 0.998 218 0.5% 268 17.9% 26 57.6% possibly_damaging(0.796) tolerated(0.3) neutral(0.328) HMMPfam_Aldedh,superfamily_ALDH-like FBN2 2201 genome.wustl.edu 37 5 127674677 127674677 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001999.3 -1 reviewed p.C1140 0.867 123 0% 143 28.7% 0 - - - - PatternScan_ASX_HYDROXYL,HMMSmart_SM00179,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin FBN2 2201 genome.wustl.edu 37 5 127782233 127782233 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001999.3 -1 reviewed p.S298Y 1.000 277 0% 299 26.4% 0 - possibly_damaging(0.449) deleterious(0) deleterious(0.592) PatternScan_ASX_HYDROXYL,HMMSmart_SM00179,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_EGF_CA,PatternScan_EGF_CA RAPGEF6 51735 genome.wustl.edu 37 5 130764831 130764831 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_016340.5 -1 validated p.S1515Y 1.000 216 0.5% 245 26.1% 2 0% possibly_damaging(0.882) deleterious(0.02) deleterious(0.728) NULL FNIP1 96459 genome.wustl.edu 37 5 131008554 131008554 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_133372.2 -1 validated p.R528Q 1.000 108 0% 105 24.8% 2 50% possibly_damaging(0.921) tolerated(0.46) neutral(0.383) NULL RAD50 10111 genome.wustl.edu 37 5 131953783 131953783 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_005732.3 +1 reviewed p.E1062D 1.000 167 0% 211 17.5% 16 56.2% benign(0.055) deleterious(0.04) neutral(0.352) HMMPfam_SMC_N,superfamily_P-loop containing nucleoside triphosphate hydrolases HSPA4 3308 genome.wustl.edu 37 5 132400724 132400724 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_002154.3 +1 validated p.S54R 1.000 665 0% 734 14.4% 25 12% benign(0.084) deleterious(0.01) neutral(0.412) HMMPfam_HSP70,superfamily_SSF53067 TXNDC15 79770 genome.wustl.edu 37 5 134232073 134232073 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_024715.3 +1 validated p.R282Q 1.000 264 0% 301 24.3% 29 27.5% probably_damaging(1) tolerated(0.13) deleterious(0.752) superfamily_Thioredoxin-like,HMMPfam_Thioredoxin LOC153328 153328 genome.wustl.edu 37 5 135188504 135188504 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_145282.4 +1 validated p.R139W 0.936 58 0% 49 24.5% 6 66.6% possibly_damaging(0.747) deleterious(0.03) deleterious(0.639) superfamily_Mitoch_carrier TRPC7 57113 genome.wustl.edu 37 5 135587488 135587488 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000378459 -1 known p.R415W 0.996 75 0% 89 29.2% 0 - - - - HMMPfam_Ion_trans TRPC7 57113 genome.wustl.edu 37 5 135693029 135693029 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000513104 -1 known p.T16M 0.988 21 0% 20 40% 0 - benign(0.013) deleterious(0.03) neutral(0.365) superfamily_ANK BRD8 10902 genome.wustl.edu 37 5 137501618 137501618 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_139199.1 -1 reviewed p.E393* 1.000 307 0% 330 23% 3 66.6% - - - NULL KDM3B 51780 genome.wustl.edu 37 5 137735575 137735575 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_016604.3 +1 validated p.R1025C 1.000 207 0% 299 27.4% 17 29.4% probably_damaging(1) deleterious(0) deleterious(0.945) NULL REEP2 51308 genome.wustl.edu 37 5 137781207 137781207 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_016606.2 +1 provisional p.R204W 0.984 100 0% 71 23.9% 1 0% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) NULL MATR3 9782 genome.wustl.edu 37 5 138658444 138658444 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_018834.4 +1 reviewed p.Q646* 1.000 195 0% 255 35.3% 66 0% - - - NULL CD14 929 genome.wustl.edu 37 5 140011659 140011659 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_000591.3 -1 reviewed p.L304I 1.000 65 0% 70 25.7% 238 3.3% probably_damaging(0.99) tolerated(0.06) deleterious(0.764) HMMPfam_LRR_1,superfamily_SSF52047 PCDHA9 9752 genome.wustl.edu 37 5 140229206 140229206 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_031857.1 +1 reviewed p.D376N 0.998 221 0% 215 32.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHA12 56137 genome.wustl.edu 37 5 140255439 140255439 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_018903.2 +1 reviewed p.D128N 1.000 176 0.6% 172 16.3% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like PCDHB1 29930 genome.wustl.edu 37 5 140432245 140432245 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_013340.2 +1 reviewed p.T397K 0.434 199 0.5% 244 29.5% 0 - benign(0.117) deleterious(0) neutral(0.454) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHB1 29930 genome.wustl.edu 37 5 140432246 140432246 + Silent SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_013340.2 +1 reviewed p.T397 0.006 198 0% 241 22.4% 0 - - - - HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHB5 26167 genome.wustl.edu 37 5 140515208 140515208 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_015669.2 +1 reviewed p.A64 0.028 79 0% 83 15.7% 0 - - - - HMMPfam_Cadherin_2,superfamily_Cadherin PCDHB8 56128 genome.wustl.edu 37 5 140559705 140559705 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_019120.2 +1 reviewed p.S697L 0.002 58 0% 60 23.3% 0 - possibly_damaging(0.807) tolerated(0.33) neutral(0.328) NULL PCDHB12 56124 genome.wustl.edu 37 5 140589344 140589344 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_018932.3 +1 reviewed p.R289C 0.019 232 0% 219 19.6% 1 0% benign(0.006) deleterious(0.04) neutral(0.349) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHGA1 56114 genome.wustl.edu 37 5 140712177 140712177 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_018912.2 +1 reviewed p.L642 0.764 47 0% 41 39% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGB1 56104 genome.wustl.edu 37 5 140730244 140730244 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_018922.2 +1 reviewed p.I139M 0.701 176 0% 171 28.7% 0 - probably_damaging(0.973) deleterious(0.04) deleterious(0.764) superfamily_Cadherin-like PCDHGB2 56103 genome.wustl.edu 37 5 140742043 140742043 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_018923.2 +1 reviewed p.V781I 0.763 230 0.4% 216 24.1% 0 - benign(0.018) tolerated(0.47) neutral(0.011) NULL PCDHGB6 56100 genome.wustl.edu 37 5 140788257 140788257 + Missense_Mutation SNP A A G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_018926.2 +1 reviewed p.N163S 0.839 206 0% 168 33.3% 0 - benign(0) deleterious(0.02) neutral(0.383) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGC3 5098 genome.wustl.edu 37 5 140857161 140857161 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_002588.2 +1 reviewed p.S493Y 1.000 156 0% 134 26.9% 6 16.6% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like HDAC3 8841 genome.wustl.edu 37 5 141009679 141009679 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_003883.3 -1 reviewed p.G99R 1.000 141 0% 117 29.1% 17 35.2% possibly_damaging(0.668) deleterious(0) deleterious(0.681) HMMPfam_Hist_deacetyl,superfamily_Arginase/deacetylase GNPDA1 10007 genome.wustl.edu 37 5 141385781 141385781 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_005471.4 -1 validated p.D113N 0.999 348 0% 424 15.8% 17 17.6% benign(0.008) tolerated(0.13) neutral(0.253) HMMPfam_Glucosamine_iso,superfamily_SSF100950 NR3C1 2908 genome.wustl.edu 37 5 142662264 142662264 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001024094.1 -1 reviewed p.E685* 1.000 395 0% 454 21.8% 3 0% - - - HMMPfam_Hormone_recep,HMMSmart_HOLI,superfamily_Str_ncl_receptor TCERG1 10915 genome.wustl.edu 37 5 145872592 145872592 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_006706.3 +1 reviewed p.F741C 1.000 203 0% 250 24.4% 6 66.6% unknown(0) deleterious(0) - HMMPfam_FF,HMMSmart_SM00441,superfamily_FF domain PPP2R2B 5521 genome.wustl.edu 37 5 146017862 146017862 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_181676.2 -1 reviewed p.R251W 1.000 215 0% 217 24.9% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00320,superfamily_WD40 repeat-like PPP2R2B 5521 genome.wustl.edu 37 5 146070774 146070774 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_181676.2 -1 reviewed p.E125K 1.000 381 0.5% 271 26.6% 1 0% probably_damaging(0.99) deleterious(0) deleterious(0.886) superfamily_WD40 repeat-like,HMMPfam_PP2A_B_N FBXO38 81545 genome.wustl.edu 37 5 147820025 147820025 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_205836.1 +1 validated p.R1070Q 1.000 106 0% 118 23.7% 16 25% probably_damaging(0.968) tolerated(0.11) deleterious(0.681) NULL HTR4 3360 genome.wustl.edu 37 5 147928296 147928296 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001040173.2 -1 reviewed p.R96 0.981 197 0% 270 23% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 PDE6A 5145 genome.wustl.edu 37 5 149276035 149276035 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_000440.2 -1 reviewed p.E502K 1.000 216 0% 269 19.3% 0 - benign(0.004) tolerated(0.48) neutral(0.011) superfamily_SSF109604 CSF1R 1436 genome.wustl.edu 37 5 149459853 149459853 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_005211.3 -1 reviewed p.F118 0.000 25 0% 24 29.2% 11 0% - - - HMMSmart_IG,superfamily_SSF48726 ARSI 340075 genome.wustl.edu 37 5 149677913 149677913 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001012301.2 -1 validated p.D192N 1.000 98 0% 72 18.1% 1 0% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_Sulfatase,superfamily_Alkaline phosphatase-like SYNPO 11346 genome.wustl.edu 37 5 150028140 150028140 + Silent SNP G G C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_007286.5 +1 validated p.P101 0.017 102 0% 150 26% 10 0% - - - NULL ZNF300 91975 genome.wustl.edu 37 5 150275263 150275263 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_052860.2 -1 reviewed p.R513I 1.000 206 0% 218 25.7% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers SPARC 6678 genome.wustl.edu 37 5 151051214 151051214 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_003118.2 -1 provisional p.E84K 1.000 171 0% 216 18.1% 582 0% probably_damaging(0.982) tolerated(0.17) deleterious(0.485) PatternScan_OSTEONECTIN_1,HMMSmart_SM00274,HMMPfam_FOLN,superfamily_EGF/Laminin HAVCR1 26762 genome.wustl.edu 37 5 156479612 156479612 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001099414.1 -1 reviewed p.R145* 0.418 462 0% 557 28.4% 1 0% - - - NULL CYFIP2 26999 genome.wustl.edu 37 5 156786060 156786060 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000398252 +1 known p.R210C 0.575 371 0% 371 21% 6 16.6% unknown(0) tolerated(0.08) - NULL ADAM19 8728 genome.wustl.edu 37 5 156945878 156945878 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_033274.2 -1 reviewed p.N207H 0.992 271 0% 325 22.2% 0 - benign(0.002) tolerated(0.36) neutral(0.020) "superfamily_Metalloproteases (""zincins"") catalytic domain" SOX30 11063 genome.wustl.edu 37 5 157078271 157078271 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_178424.1 -1 reviewed p.R272 0.976 96 0% 85 20% 0 - - - - NULL HMMR 3161 genome.wustl.edu 37 5 162902542 162902542 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001142556.1 +1 reviewed p.E378* 1.000 271 0% 300 26.3% 2 0% - - - NULL ODZ2 57451 genome.wustl.edu 37 5 167645592 167645592 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001122679.1 +1 inferred p.R1557W 1.000 114 0% 166 22.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_NHL,superfamily_Concanavalin A-like lectins/glucanases,superfamily_NHL repeat DOCK2 1794 genome.wustl.edu 37 5 169267780 169267780 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_004946.2 +1 validated p.I908S 1.000 263 0% 270 27.4% 5 0% possibly_damaging(0.603) deleterious(0) deleterious(0.653) NULL RPL26L1 51121 genome.wustl.edu 37 5 172396461 172396461 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_016093.2 +1 reviewed p.L119I 1.000 559 0.4% 686 24.6% 41 43.9% benign(0.033) tolerated(0.45) neutral(0.013) superfamily_Translation proteins SH3-like domain CPEB4 80315 genome.wustl.edu 37 5 173317791 173317791 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_030627.2 +1 validated p.S352N 1.000 156 0.6% 147 21.8% 4 0% benign(0.001) tolerated(0.3) neutral(0.029) NULL LOC100127922 100127922 genome.wustl.edu 37 5 173988810 173988810 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 XM_002342573.1 +1 model p.K55T 1.000 34 0% 28 25% 3 0% - - - superfamily_Ubiquitin-like FAM153A 285596 genome.wustl.edu 37 5 175536162 175536162 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000393522 +1 known p.S329Y 0.000 707 0% 813 13.7% 0 - - - - NULL UNC5A 90249 genome.wustl.edu 37 5 176295177 176295177 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000509580 +1 known p.R79* 0.991 177 0% 167 24% 3 0% - - - superfamily_Immunoglobulin ENSG00000245859 0 genome.wustl.edu 37 5 176910849 176910849 + RNA SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000499364 +1 novel NULL 0.001 62 0% 36 22.2% 0 - - - - - FAM153B 202134 genome.wustl.edu 37 5 177174765 177174765 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000503567 -1 known p.T11 0.004 1301 0.1% 1502 9% 0 - - - - NULL AGXT2L2 85007 genome.wustl.edu 37 5 177657001 177657001 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_153373.2 -1 validated p.A93V 1.000 113 0% 97 16.5% 29 20.6% probably_damaging(0.997) deleterious(0.02) deleterious(0.849) HMMPfam_Aminotran_3,superfamily_PLP-dependent transferases ZFP2 80108 genome.wustl.edu 37 5 178359015 178359015 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_030613.2 +1 provisional p.R234I 1.000 135 0% 179 25.1% 2 50% probably_damaging(0.999) tolerated(0.13) deleterious(0.743) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers BTNL3 10917 genome.wustl.edu 37 5 180431433 180431433 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_197975.1 +1 validated p.H275 0.000 584 0.2% 537 18.6% 0 - - - - NULL TRIM7 81786 genome.wustl.edu 37 5 180625708 180625708 + Missense_Mutation SNP T T C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_203293.1 -1 reviewed p.M324V 0.997 199 0% 168 23.8% 0 - benign(0) tolerated(0.91) - NULL PSMG4 389362 genome.wustl.edu 37 6 3263965 3263965 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001128592.1 +1 validated p.T74 0.545 141 0% 126 17.5% 42 19% - - - NULL SLC22A23 63027 genome.wustl.edu 37 6 3287144 3287144 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_015482.1 -1 validated p.F499V 1.000 31 0% 27 29.6% 4 50% probably_damaging(1) tolerated(0.16) deleterious(0.559) HMMPfam_MFS_1,superfamily_MFS general substrate transporter CAGE1 285782 genome.wustl.edu 37 6 7374203 7374203 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_205864.2 -1 validated p.N147 0.000 234 0% 276 17.8% 0 - - - - NULL PAK1IP1 55003 genome.wustl.edu 37 6 10704880 10704880 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_017906.2 +1 validated p.L213I 1.000 336 0% 385 26.5% 17 23.5% benign(0.082) tolerated(0.27) neutral(0.040) HMMSmart_WD40,superfamily_WD40_like GFOD1 54438 genome.wustl.edu 37 6 13365493 13365493 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_018988.2 -1 provisional p.D219Y 1.000 82 0% 95 18.9% 4 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Glyceraldehyde-3-phosphate dehydrogenase-like C-terminal domain GFOD1 54438 genome.wustl.edu 37 6 13470161 13470161 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_033069.2 -1 predicted p.E118K 0.001 364 0% 432 21.3% 1 0% unknown(0) - - NULL RNF182 221687 genome.wustl.edu 37 6 13977825 13977825 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_152737.3 +1 validated p.D159N 1.000 313 0% 246 23.2% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL CAP2 10486 genome.wustl.edu 37 6 17507500 17507500 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_006366.2 +1 reviewed p.S134L 0.998 185 0% 263 27.4% 0 - possibly_damaging(0.85) deleterious(0) deleterious(0.772) HMMPfam_CAP_N,superfamily_N-terminal domain of adenylylcyclase associated protein CAP FAM65B 9750 genome.wustl.edu 37 6 24861222 24861222 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_014722.2 -1 validated p.E203K 1.000 163 0% 217 23.5% 5 20% probably_damaging(0.99) deleterious(0.01) deleterious(0.847) NULL TRIM38 10475 genome.wustl.edu 37 6 25983480 25983480 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_006355.2 +1 reviewed p.E321D 0.000 166 0% 206 27.2% 23 43.4% benign(0.001) tolerated(0.57) neutral(0.006) HMMSmart_PRY HIST1H3C 8352 genome.wustl.edu 37 6 26045670 26045670 + Missense_Mutation SNP C C G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_003531.2 +1 reviewed p.S11C 1.000 54 0% 37 24.3% 0 - possibly_damaging(0.832) - - superfamily_Histone-fold BTN3A3 10384 genome.wustl.edu 37 6 26444375 26444375 + Silent SNP G G A rs1057923 TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_006994.4 +1 validated p.P92 0.021 505 0.6% 657 22.4% 42 9.5% - - - HMMSmart_IG,HMMPfam_V-set,superfamily_SSF48726 ZNF192 7745 genome.wustl.edu 37 6 28120885 28120885 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_006298.2 +1 validated p.S276Y 0.634 93 0% 116 10.3% 0 - probably_damaging(0.99) tolerated(0.07) deleterious(0.760) HMMSmart_SM00349 ZNF193 7746 genome.wustl.edu 37 6 28200592 28200592 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_006299.3 +1 provisional p.R274I 0.088 225 0% 281 31% 5 40% probably_damaging(1) tolerated(0.07) deleterious(0.819) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF323 64288 genome.wustl.edu 37 6 28295166 28295166 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001135215.1 -1 validated p.E176* 0.976 308 0% 442 11.3% 4 50% - - - NULL GPX5 2880 genome.wustl.edu 37 6 28501803 28501803 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001509.2 +1 reviewed p.K175N 0.991 202 0% 213 26.8% 1 100% probably_damaging(0.972) tolerated(0.24) neutral(0.451) superfamily_Thiordxn-like_fd OR2J2 26707 genome.wustl.edu 37 6 29142278 29142278 + Missense_Mutation SNP T T C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_030905.2 +1 validated p.L289P 0.995 277 0% 422 23.9% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like LTA 4049 genome.wustl.edu 37 6 31541385 31541385 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_000595.2 +1 reviewed p.G178V 1.000 112 0% 134 29.1% 4 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_TNF,HMMSmart_SM00207,superfamily_TNF-like BAK1 578 genome.wustl.edu 37 6 33541864 33541864 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001188.3 -1 reviewed p.D160N 0.002 62 0% 74 20.3% 60 45% benign(0.141) tolerated(0.06) neutral(0.335) HMMPfam_Bcl-2,HMMSmart_SM00337,superfamily_Bcl-2 inhibitors of programmed cell death TCP11 6954 genome.wustl.edu 37 6 35088079 35088079 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001093728.1 -1 validated p.K337N 0.094 163 0% 171 26.9% 0 - benign(0.017) tolerated(0.24) neutral(0.038) HMMPfam_Tcp11 SCUBE3 222663 genome.wustl.edu 37 6 35200656 35200656 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_152753.2 +1 provisional p.G167S 1.000 198 0% 190 22.6% 0 - possibly_damaging(0.728) tolerated(0.07) deleterious(0.584) HMMPfam_EGF,HMMSmart_SM00181,superfamily_EGF/Laminin TULP1 7287 genome.wustl.edu 37 6 35477677 35477677 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_003322.3 -1 reviewed p.P176 0.004 426 0% 390 26.7% 0 - - - - NULL SRPK1 6732 genome.wustl.edu 37 6 35838195 35838195 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_003137.3 -1 reviewed p.R285Q 1.000 770 0% 701 27% 2 0% possibly_damaging(0.727) tolerated(0.54) neutral(0.272) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase PNPLA1 285848 genome.wustl.edu 37 6 36269931 36269931 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001145716.1 +1 validated p.P271S 0.001 163 0% 141 24.8% 1 0% possibly_damaging(0.81) deleterious(0) deleterious(0.750) NULL C6orf222 389384 genome.wustl.edu 37 6 36298376 36298376 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001010903.4 -1 validated p.S31L 0.003 21 0% 19 42.1% 1 0% benign(0.186) deleterious(0) neutral(0.462) NULL TOMM6 100188893 genome.wustl.edu 37 6 41757003 41757003 + Silent SNP G G C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001134493.1 +1 validated p.A54 0.001 447 0% 417 12.9% 190 21.5% - - - NULL PRPH2 5961 genome.wustl.edu 37 6 42689936 42689936 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_000322.4 -1 reviewed p.R46Q 0.958 70 1.4% 60 25% 1 0% benign(0.123) tolerated(0.32) neutral(0.034) HMMPfam_Tetraspannin XPO5 57510 genome.wustl.edu 37 6 43528733 43528733 + Silent SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_020750.2 -1 validated p.S341 0.929 238 0% 327 26% 3 66.6% - - - superfamily_ARM repeat CLIC5 53405 genome.wustl.edu 37 6 45983235 45983235 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_016929.3 -1 validated p.E15 1.000 23 0% 14 57.1% 11 36.3% - - - superfamily_Thioredoxin-like ENPP5 59084 genome.wustl.edu 37 6 46135174 46135174 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_021572.4 -1 validated p.E276* 1.000 137 0% 180 19.4% 7 0% - - - HMMPfam_Phosphodiest,superfamily_Alkaline phosphatase-like TDRD6 221400 genome.wustl.edu 37 6 46657801 46657801 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001010870.2 +1 validated p.L646I 0.995 157 0% 228 29.4% 0 - probably_damaging(0.954) tolerated(0.24) neutral(0.435) NULL TDRD6 221400 genome.wustl.edu 37 6 46658617 46658617 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001010870.2 +1 validated p.L918I 0.000 62 0% 56 33.9% 0 - probably_damaging(0.959) tolerated(0.12) deleterious(0.663) NULL GPR116 221395 genome.wustl.edu 37 6 46834846 46834846 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001098518.1 -1 validated p.K550N 0.013 283 0% 291 23.7% 10 0% probably_damaging(0.988) deleterious(0.05) deleterious(0.783) HMMSmart_SM00408,HMMSmart_SM00409,superfamily_Immunoglobulin PTCHD4 442213 genome.wustl.edu 37 6 47847416 47847416 + Silent SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001013732.3 -1 validated p.S371 1.000 216 0% 260 10.8% 0 - - - - HMMPfam_Patched,superfamily_SSF82866 RHAG 6005 genome.wustl.edu 37 6 49583351 49583351 + Nonsense_Mutation SNP A A T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_000324.2 -1 reviewed p.L209* 1.000 232 0% 221 29% 0 - - - - HMMPfam_Ammonium_transp,superfamily_RH_like_transpt RHAG 6005 genome.wustl.edu 37 6 49585784 49585784 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_000324.2 -1 reviewed p.F163L 0.000 261 0% 332 28.3% 0 - benign(0.001) tolerated(1) - HMMPfam_Ammonium_transp,superfamily_RH_like_transpt PGK2 5232 genome.wustl.edu 37 6 49754337 49754337 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_138733.4 -1 reviewed p.F188L 0.999 271 0% 209 22% 0 - benign(0.201) tolerated(0.16) neutral(0.079) HMMPfam_PGK,superfamily_PGK DST 667 genome.wustl.edu 37 6 56394884 56394884 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_015548.4 -1 reviewed p.E3096A 1.000 432 0% 430 24.2% 4 0% possibly_damaging(0.798) - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat DST 667 genome.wustl.edu 37 6 56471617 56471617 + Silent SNP T T C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000370769 -1 known p.G2392 0.899 175 0% 187 28.3% 0 - - - - NULL DST 667 genome.wustl.edu 37 6 56472450 56472450 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000370769 -1 known p.I2115L 0.000 194 0% 170 17.6% 0 - benign(0) tolerated(0.06) neutral(0.323) NULL DST 667 genome.wustl.edu 37 6 56473287 56473287 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000370769 -1 known p.E1836K 1.000 173 0.6% 178 20.8% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMSmart_SM00250,superfamily_Plakin repeat DST 667 genome.wustl.edu 37 6 56473616 56473616 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000370769 -1 known p.R1726I 1.000 363 0% 361 27.1% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_Plakin repeat DST 667 genome.wustl.edu 37 6 56481342 56481342 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001723.5 -1 reviewed p.R2308Q 0.113 136 0% 135 14.1% 0 - benign(0) tolerated(0.29) neutral(0.029) superfamily_SSF75399 DST 667 genome.wustl.edu 37 6 56569095 56569095 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000370769 -1 known p.L76I 1.000 157 0% 190 26.3% 1 100% probably_damaging(0.977) deleterious(0) deleterious(0.863) HMMPfam_CH,HMMSmart_SM00033,superfamily_Calponin-homology domain CH-domain BEND6 221336 genome.wustl.edu 37 6 56883320 56883320 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_152731.2 +1 validated p.N272H 1.000 224 0% 265 27.9% 1 0% benign(0) tolerated(0.07) neutral(0.319) NULL BAI3 577 genome.wustl.edu 37 6 69665943 69665943 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001704.2 +1 reviewed p.S408L 0.940 245 0% 294 29.3% 0 - benign(0.054) deleterious(0.02) neutral(0.387) HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat COL19A1 1310 genome.wustl.edu 37 6 70778329 70778329 + Missense_Mutation SNP A A G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001858.4 +1 reviewed p.I395M 0.001 343 0% 442 22.4% 0 - unknown(0) tolerated(0.17) - HMMPfam_Collagen FAM135A 57579 genome.wustl.edu 37 6 71186900 71186900 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001105531.2 +1 validated p.R136Q 1.000 396 0% 405 24% 4 0% probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL FAM135A 57579 genome.wustl.edu 37 6 71233777 71233777 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001105531.2 +1 validated p.S404* 1.000 201 0% 273 31.5% 1 0% - - - NULL KCNQ5 56479 genome.wustl.edu 37 6 73751711 73751711 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_019842.3 +1 reviewed p.S181F 1.000 666 0% 920 20.4% 0 - probably_damaging(0.99) deleterious(0.01) deleterious(0.847) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels CD109 135228 genome.wustl.edu 37 6 74524800 74524800 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_133493.3 +1 reviewed p.E1289* 0.674 338 0% 331 18.7% 2 0% - - - superfamily_Alpha-macroglobulin receptor domain HTR1B 3351 genome.wustl.edu 37 6 78172544 78172544 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_000863.1 -1 provisional p.E193K 1.000 72 0% 62 32.3% 0 - benign(0.311) tolerated(0.61) neutral(0.101) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like PHIP 55023 genome.wustl.edu 37 6 79655900 79655900 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_017934.5 -1 validated p.R1483Q 0.996 655 0% 692 26.2% 7 14.2% probably_damaging(0.999) tolerated(0.66) deleterious(0.493) NULL PHIP 55023 genome.wustl.edu 37 6 79725406 79725406 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_017934.5 -1 validated p.N444H 1.000 503 0% 577 21.7% 1 0% probably_damaging(0.991) deleterious(0.03) deleterious(0.808) HMMSmart_SM00320,superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase,PatternScan_WD_REPEATS_1 TTK 7272 genome.wustl.edu 37 6 80717677 80717677 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_003318.4 +1 reviewed p.A97 0.970 160 0% 193 16.1% 1 0% - - - NULL DOPEY1 23033 genome.wustl.edu 37 6 83838692 83838692 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_015018.2 +1 validated p.F602L 1.000 137 0% 155 27.1% 1 0% possibly_damaging(0.676) tolerated(1) neutral(0.240) NULL SNAP91 9892 genome.wustl.edu 37 6 84310990 84310990 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_014841.2 -1 validated p.D442N 1.000 385 0% 453 26.5% 0 - benign(0.355) tolerated(0.1) neutral(0.399) NULL ZNF292 23036 genome.wustl.edu 37 6 87964944 87964944 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_015021.1 +1 validated p.R533W 1.000 300 0% 391 19.7% 3 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL AKIRIN2 55122 genome.wustl.edu 37 6 88387589 88387589 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_018064.3 -1 validated p.R159H 1.000 469 0% 547 22.9% 25 12% probably_damaging(0.995) tolerated(0.37) deleterious(0.477) NULL CNR1 1268 genome.wustl.edu 37 6 88854102 88854102 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_016083.4 -1 reviewed p.L298I 0.999 125 0% 79 25.3% 0 - probably_damaging(0.994) deleterious(0.02) deleterious(0.835) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like MDN1 23195 genome.wustl.edu 37 6 90359883 90359883 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_014611.1 -1 provisional p.R5356W 1.000 296 0% 320 21.2% 10 10% unknown(0) deleterious(0) - NULL MDN1 23195 genome.wustl.edu 37 6 90504476 90504476 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_014611.1 -1 provisional p.R125I 1.000 161 0% 137 20.4% 1 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL MANEA 79694 genome.wustl.edu 37 6 96034476 96034476 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_024641.2 +1 validated p.H54P 0.478 343 0% 289 26.3% 2 0% benign(0) tolerated(0.39) neutral(0.016) NULL MMS22L 253714 genome.wustl.edu 37 6 97676836 97676836 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_198468.2 -1 predicted p.R658Q 0.919 164 0% 190 28.9% 0 - possibly_damaging(0.755) tolerated(0.41) neutral(0.294) NULL FBXL4 26235 genome.wustl.edu 37 6 99323582 99323582 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_012160.3 -1 reviewed p.A471T 1.000 27 0% 19 47.4% 7 28.5% benign(0.002) tolerated(0.1) neutral(0.286) superfamily_SSF52047 ASCC3 10973 genome.wustl.edu 37 6 100988055 100988055 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_006828.2 -1 validated p.A1920V 1.000 428 0% 413 22% 16 18.7% benign(0.077) deleterious(0) neutral(0.450) HMMPfam_Sec63,HMMSmart_SEC63 AIM1 202 genome.wustl.edu 37 6 106987390 106987390 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001624.2 +1 validated p.R1203W 1.000 183 0% 221 29.4% 6 16.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Crystall,HMMSmart_XTALbg,superfamily_G_crystallin_SF AIM1 202 genome.wustl.edu 37 6 107009238 107009238 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001624.2 +1 validated p.R1593* 1.000 250 0% 299 18.7% 9 0% - - - HMMPfam_Ricin_B_lectin,HMMSmart_RICIN,superfamily_RicinB_like NR2E1 7101 genome.wustl.edu 37 6 108508651 108508651 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_003269.3 +1 validated p.K381T 1.000 222 0% 231 27.7% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) superfamily_Nuclear receptor ligand-binding domain SESN1 27244 genome.wustl.edu 37 6 109322639 109322639 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_014454.1 -1 provisional p.S133Y 1.000 235 0% 261 21.5% 3 33.3% benign(0.355) tolerated(0.28) neutral(0.144) HMMPfam_PA26,superfamily_SSF69118 AKD1 221264 genome.wustl.edu 37 6 109854505 109854505 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000424296 -1 known p.K252N 0.544 644 0% 738 27.1% 0 - benign(0.022) tolerated(0.54) neutral(0.009) superfamily_SSF52540 RPF2 84154 genome.wustl.edu 37 6 111318455 111318455 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_032194.1 +1 validated p.N102H 1.000 268 0% 313 31% 22 18.1% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Brix KIAA1919 91749 genome.wustl.edu 37 6 111587429 111587429 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_153369.2 +1 validated p.R222* 0.226 491 0% 467 26.3% 0 - - - - HMMPfam_MFS_1,superfamily_MFS general substrate transporter REV3L 5980 genome.wustl.edu 37 6 111694205 111694205 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_002912.3 -1 validated p.E1785* 1.000 348 0% 367 25.1% 2 50% - - - superfamily_Ribonuclease H-like NT5DC1 221294 genome.wustl.edu 37 6 116439048 116439048 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_152729.2 +1 reviewed p.D157Y 1.000 463 0% 501 25.7% 11 36.3% possibly_damaging(0.95) deleterious(0.01) deleterious(0.799) HMMPfam_5_nucleotid NT5DC1 221294 genome.wustl.edu 37 6 116558183 116558183 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_152729.2 +1 reviewed p.S286F 1.000 123 0% 150 26.7% 36 52.7% probably_damaging(0.976) deleterious(0) deleterious(0.863) HMMPfam_5_nucleotid RFX6 222546 genome.wustl.edu 37 6 117243304 117243304 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_173560.2 +1 validated p.R476I 1.000 348 0% 353 28% 0 - possibly_damaging(0.846) tolerated(0.31) neutral(0.352) NULL RFX6 222546 genome.wustl.edu 37 6 117250120 117250120 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_173560.2 +1 validated p.R866Q 1.000 121 0% 155 27.1% 0 - possibly_damaging(0.501) deleterious(0.01) deleterious(0.573) NULL FAM184A 79632 genome.wustl.edu 37 6 119295644 119295644 + Missense_Mutation SNP A A G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_024581.4 -1 validated p.F955S 1.000 657 0% 707 27.9% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL FAM184A 79632 genome.wustl.edu 37 6 119324140 119324140 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_024581.4 -1 validated p.L671R 1.000 306 0% 344 32.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL GJA1 2697 genome.wustl.edu 37 6 121768150 121768150 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_000165.3 +1 reviewed p.R53C 0.998 200 0% 234 30.8% 19 0% possibly_damaging(0.768) tolerated(0.1) deleterious(0.571) HMMPfam_Connexin,HMMSmart_CNX SMPDL3A 10924 genome.wustl.edu 37 6 123130404 123130404 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_006714.3 +1 validated p.K405Q 0.516 186 0% 208 28.8% 10 10% benign(0.05) tolerated(0.13) neutral(0.256) NULL TRDN 10345 genome.wustl.edu 37 6 123581763 123581763 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_006073.2 -1 validated p.E609* 0.995 214 0% 188 26.6% 0 - - - - NULL TRDN 10345 genome.wustl.edu 37 6 123703283 123703283 + Missense_Mutation SNP T T C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_006073.2 -1 validated p.K382R 1.000 162 0% 170 34.1% 0 - possibly_damaging(0.936) tolerated(0.44) neutral(0.394) NULL TRMT11 60487 genome.wustl.edu 37 6 126317156 126317156 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001031712.2 +1 validated p.R61I 1.000 376 0% 574 25.6% 1 100% benign(0.263) tolerated(0.39) neutral(0.043) NULL ECHDC1 55862 genome.wustl.edu 37 6 127648168 127648168 + Silent SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001139510.1 -1 validated p.V120 0.997 215 0% 249 20.9% 30 23.3% - - - HMMPfam_ECH,superfamily_ClpP/crotonase THEMIS 387357 genome.wustl.edu 37 6 128135035 128135035 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001010923.2 -1 reviewed p.E251K 1.000 243 0% 214 37.4% 2 0% probably_damaging(1) tolerated(0.06) deleterious(0.823) NULL LAMA2 3908 genome.wustl.edu 37 6 129371128 129371128 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_000426.3 +1 reviewed p.E60* 0.999 505 0% 583 30.9% 3 0% - - - HMMPfam_Laminin_N,HMMSmart_LamNT LAMA2 3908 genome.wustl.edu 37 6 129475693 129475693 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_000426.3 +1 reviewed p.E357D 1.000 279 0% 304 27% 2 0% benign(0.042) tolerated(0.13) neutral(0.255) HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,superfamily_ConA_like_lec_gl,superfamily_SSF57196 LAMA2 3908 genome.wustl.edu 37 6 129723624 129723624 + Silent SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_000426.3 +1 reviewed p.V1906 0.729 136 0% 150 26.7% 2 0% - - - superfamily_ConA_like_lec_gl,superfamily_SSF56399 ARHGAP18 93663 genome.wustl.edu 37 6 129929194 129929194 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_033515.2 -1 validated p.L376I 1.000 74 0% 74 25.7% 14 7.1% probably_damaging(0.998) deleterious(0.03) deleterious(0.839) HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP MED23 9439 genome.wustl.edu 37 6 131941857 131941857 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_004830.2 -1 reviewed p.I170L 1.000 199 0% 194 25.3% 1 100% benign(0.093) tolerated(0.35) neutral(0.028) NULL TAAR9 134860 genome.wustl.edu 37 6 132859486 132859486 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_175057.3 +1 reviewed p.E20K 0.050 263 0% 277 14.1% 0 - benign(0) tolerated(0.67) neutral(0.003) superfamily_Family A G protein-coupled receptor-like VNN1 8876 genome.wustl.edu 37 6 133013532 133013532 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_004666.2 -1 reviewed p.D340N 0.948 237 0% 211 28.4% 1 0% probably_damaging(1) tolerated(0.08) deleterious(0.800) NULL EYA4 2070 genome.wustl.edu 37 6 133783601 133783601 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_004100.4 +1 reviewed p.S189I 1.000 355 0% 400 24.5% 0 - probably_damaging(0.955) deleterious(0) deleterious(0.843) NULL EYA4 2070 genome.wustl.edu 37 6 133846173 133846173 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_172105.3 +1 reviewed p.R587C 1.000 279 0% 370 25.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Hydrolase MAP3K5 4217 genome.wustl.edu 37 6 136883734 136883734 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_005923.3 -1 reviewed p.R1261W 0.989 556 0% 502 32.7% 11 27.2% probably_damaging(0.968) deleterious(0) deleterious(0.855) NULL HECA 51696 genome.wustl.edu 37 6 139488200 139488200 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_016217.2 +1 reviewed p.E351K 1.000 36 0% 45 26.7% 8 25% possibly_damaging(0.942) tolerated(0.2) neutral(0.436) NULL TXLNB 167838 genome.wustl.edu 37 6 139564407 139564407 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_153235.3 -1 validated p.I437 0.390 214 0% 246 28.9% 0 - - - - HMMPfam_Taxilin PLAGL1 5325 genome.wustl.edu 37 6 144263034 144263034 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001080951.1 -1 reviewed p.S307A 0.015 180 0% 365 27.4% 6 0% possibly_damaging(0.746) deleterious(0.04) deleterious(0.623) NULL ADGB 79747 genome.wustl.edu 37 6 147123049 147123049 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_024694.3 +1 provisional p.R1574* 0.925 146 0.7% 171 18.7% 0 - - - - NULL SYNE1 23345 genome.wustl.edu 37 6 152527386 152527386 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_182961.2 -1 reviewed p.E7646K 1.000 189 0% 180 27.8% 3 0% benign(0.016) deleterious(0.01) neutral(0.406) HMMSmart_SM00150,superfamily_Spectrin repeat SYNE1 23345 genome.wustl.edu 37 6 152539529 152539529 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_182961.2 -1 reviewed p.L7352I 1.000 230 0% 260 26.5% 4 0% benign(0.004) tolerated(0.54) neutral(0.007) HMMPfam_Spectrin,superfamily_Spectrin repeat SYNE1 23345 genome.wustl.edu 37 6 152647133 152647133 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_182961.2 -1 reviewed p.S5133L 1.000 474 0% 507 28.6% 0 - benign(0.08) - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat TIAM2 26230 genome.wustl.edu 37 6 155575144 155575144 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_012454.3 +1 reviewed p.T1421 0.041 284 0% 328 18.9% 3 33.3% - - - HMMSmart_SM00233,superfamily_PH domain-like CLDN20 49861 genome.wustl.edu 37 6 155597320 155597320 + Missense_Mutation SNP A A G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001001346.3 +1 reviewed p.N156S 0.993 113 0% 133 19.5% 0 - benign(0) tolerated(0.54) neutral(0.007) HMMPfam_PMP22_Claudin NOX3 50508 genome.wustl.edu 37 6 155750120 155750120 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_015718.2 -1 reviewed p.A318V 0.872 75 1.3% 81 25.9% 0 - benign(0.002) tolerated(0.07) neutral(0.319) HMMPfam_FAD_binding_8,superfamily_Riboflavin_synthase_like_b-brl IGF2R 3482 genome.wustl.edu 37 6 160510272 160510272 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_000876.2 +1 reviewed p.D2152Y 0.111 141 0% 155 11% 30 30% probably_damaging(0.971) deleterious(0.02) deleterious(0.796) superfamily_Mannose 6-phosphate receptor domain THBS2 7058 genome.wustl.edu 37 6 169641908 169641908 + Silent SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_003247.2 -1 reviewed p.L280 0.158 61 0% 40 27.5% 7 0% - - - NULL BRAT1 221927 genome.wustl.edu 37 7 2578894 2578894 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_152743.2 -1 provisional p.A563 0.009 20 0% 20 45% 25 40% - - - HMMPfam_HEAT,superfamily_ARM repeat SDK1 221935 genome.wustl.edu 37 7 4218132 4218132 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_152744.3 +1 validated p.R1671Q 1.000 97 0% 78 29.5% 3 33.3% benign(0.025) deleterious(0.01) neutral(0.407) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III SDK1 221935 genome.wustl.edu 37 7 4247866 4247866 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_152744.3 +1 validated p.A1784T 0.999 197 0.5% 167 18.6% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III PAPOLB 56903 genome.wustl.edu 37 7 4899770 4899770 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_020144.4 -1 validated p.P558S 0.908 170 0% 167 23.4% 0 - benign(0.004) tolerated(0.38) neutral(0.018) NULL ENSG00000198580 0 genome.wustl.edu 37 7 6714740 6714740 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000401847 +1 known p.R151I 0.097 31 0% 31 38.7% 0 - possibly_damaging(0.906) deleterious(0.04) deleterious(0.708) HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF12 7559 genome.wustl.edu 37 7 6731998 6731998 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_016265.3 -1 reviewed p.F192C 0.019 154 0% 171 28.7% 2 0% benign(0.014) tolerated(0.29) neutral(0.030) NULL CCZ1B 221960 genome.wustl.edu 37 7 6864324 6864324 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_198097.2 -1 predicted p.K55N 1.000 671 0% 882 13.4% 10 20% benign(0.195) deleterious(0.05) neutral(0.364) HMMPfam_DUF2049 COL28A1 340267 genome.wustl.edu 37 7 7563879 7563879 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001037763.2 -1 validated p.D228A 0.866 327 0% 333 26.7% 0 - benign(0.077) tolerated(0.72) neutral(0.007) HMMSmart_SM00327,superfamily_vWA-like LOC340268 340268 genome.wustl.edu 37 7 9766827 9766827 + RNA SNP G G A rs61747376 byFrequency TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 XR_041608.1 +1 model NULL 1.000 123 0% 63 22.2% 0 - - - - - LOC340268 340268 genome.wustl.edu 37 7 9767394 9767394 + RNA SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 XR_041608.1 +1 model NULL 0.997 137 0% 141 22.7% 0 - - - - - PHF14 9678 genome.wustl.edu 37 7 11078433 11078433 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000303905 +1 known p.R676Q 1.000 326 0% 335 21.2% 13 53.8% possibly_damaging(0.568) tolerated(0.54) neutral(0.202) NULL SNX13 23161 genome.wustl.edu 37 7 17838724 17838724 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_015132.4 -1 reviewed p.F784L 0.916 393 0% 545 18.7% 13 30.7% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PRPS1L1 221823 genome.wustl.edu 37 7 18066712 18066712 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_175886.2 -1 reviewed p.A232T 0.989 171 0.6% 185 28.1% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_Pribosyltran,superfamily_PRTase-like MACC1 346389 genome.wustl.edu 37 7 20199213 20199213 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_182762.3 -1 validated p.P257 1.000 177 0% 202 27.7% 0 - - - - NULL SP4 6671 genome.wustl.edu 37 7 21550808 21550808 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_003112.3 +1 validated p.R759I 1.000 260 0% 258 15.9% 2 0% possibly_damaging(0.794) tolerated(0.16) neutral(0.357) NULL SP4 6671 genome.wustl.edu 37 7 21550841 21550841 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_003112.3 +1 validated p.S770L 1.000 239 0% 223 25.1% 2 50% probably_damaging(0.959) deleterious(0) deleterious(0.847) NULL DNAH11 8701 genome.wustl.edu 37 7 21906202 21906202 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_003777.3 +1 reviewed p.E3878* 1.000 249 0% 265 28.3% 1 0% - - - HMMPfam_Dynein_heavy RAPGEF5 9771 genome.wustl.edu 37 7 22197475 22197475 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_012294.3 -1 validated p.K366Q 1.000 359 0% 425 25.6% 4 25% probably_damaging(1) tolerated(0.43) deleterious(0.513) superfamily_Ras GEF KLHL7 55975 genome.wustl.edu 37 7 23205471 23205471 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001031710.2 +1 reviewed p.S364L 1.000 243 0% 243 27.6% 7 28.5% probably_damaging(0.96) deleterious(0.01) deleterious(0.808) HMMSmart_Kelch,superfamily_Gal_oxid_central TRA2A 29896 genome.wustl.edu 37 7 23545855 23545855 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_013293.3 -1 reviewed p.G224 0.094 194 0% 202 24.8% 21 47.6% - - - superfamily_RNA-binding domain RBD GHRHR 2692 genome.wustl.edu 37 7 31018817 31018817 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_000823.3 +1 reviewed p.T410 0.101 88 0% 88 31.8% 0 - - - - superfamily_SSF81321 CCDC129 223075 genome.wustl.edu 37 7 31682572 31682572 + Silent SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_194300.2 +1 validated p.R530 0.000 129 0% 125 20% 2 0% - - - NULL PDE1C 5137 genome.wustl.edu 37 7 32109928 32109928 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_005020.1 -1 provisional p.K26N 1.000 305 0% 335 31.3% 1 100% probably_damaging(0.989) deleterious(0) deleterious(0.884) NULL GPR141 353345 genome.wustl.edu 37 7 37780877 37780877 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_181791.1 +1 provisional p.K294N 0.998 240 0% 311 27% 2 0% benign(0.073) deleterious(0) neutral(0.450) superfamily_SSF81321 AMPH 273 genome.wustl.edu 37 7 38574564 38574564 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001635.2 -1 reviewed p.F39 1.000 629 0% 695 28.3% 2 0% - - - HMMPfam_BAR,HMMSmart_SM00721 VPS41 27072 genome.wustl.edu 37 7 38768382 38768382 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_014396.3 -1 reviewed p.R757C 1.000 300 0.3% 290 18.3% 4 25% probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL STK17A 9263 genome.wustl.edu 37 7 43664257 43664257 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_004760.2 +1 reviewed p.S354L 0.025 126 0% 154 26% 32 12.5% benign(0.183) tolerated(0.17) neutral(0.076) NULL UBE2D4 51619 genome.wustl.edu 37 7 43988248 43988248 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_015983.2 +1 provisional p.K72N 1.000 260 0% 309 19.1% 18 22.2% benign(0.134) deleterious(0) neutral(0.456) HMMPfam_UQ_con,HMMSmart_SM00212,superfamily_UBC-like PGAM2 5224 genome.wustl.edu 37 7 44102513 44102513 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_000290.3 -1 reviewed p.A204 1.000 189 0% 155 18.1% 6 0% - - - superfamily_SSF53254 IGFBP1 3484 genome.wustl.edu 37 7 45931541 45931541 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_000596.2 +1 reviewed p.R177Q 0.553 180 0% 202 26.2% 1 0% benign(0.022) tolerated(1) neutral(0.001) HMMPfam_Thyroglobulin_1,superfamily_Thyroglobulin type-1 domain UPP1 7378 genome.wustl.edu 37 7 48141471 48141471 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_003364.2 +1 validated p.C71 0.889 232 0% 240 27.5% 23 17.3% - - - HMMPfam_PNP_UDP_1,superfamily_Purine and uridine phosphorylases ABCA13 154664 genome.wustl.edu 37 7 48545984 48545984 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_152701.3 +1 reviewed p.K4448N 1.000 276 0% 347 27.1% 0 - benign(0.006) - - NULL GRB10 2887 genome.wustl.edu 37 7 50663160 50663160 + Nonsense_Mutation SNP T T A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_005311.4 -1 reviewed p.K538* 1.000 297 0.3% 329 29.2% 11 18.1% - - - HMMPfam_SH2,HMMSmart_SM00252,superfamily_SH2 domain GRB10 2887 genome.wustl.edu 37 7 50680498 50680498 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_005311.4 -1 reviewed p.L378F 1.000 368 0% 395 25.8% 14 7.1% benign(0.004) tolerated(0.32) neutral(0.024) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like ZNF479 90827 genome.wustl.edu 37 7 57200024 57200024 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_033273.1 -1 provisional p.K3T 0.103 241 0% 209 14.8% 0 - probably_damaging(0.99) deleterious(0.02) deleterious(0.825) NULL ZNF679 168417 genome.wustl.edu 37 7 63726874 63726874 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_153363.2 +1 validated p.R288I 1.000 102 0% 120 27.5% 0 - probably_damaging(0.997) tolerated(0.25) deleterious(0.503) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF679 168417 genome.wustl.edu 37 7 63727108 63727108 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_153363.2 +1 validated p.T366N 0.000 138 0% 170 21.2% 0 - benign(0.003) tolerated(0.54) neutral(0.007) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF273 10793 genome.wustl.edu 37 7 64389311 64389311 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_021148.2 +1 reviewed p.I535M 0.425 177 0% 227 24.2% 0 - probably_damaging(0.987) deleterious(0) deleterious(0.881) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ERV3-1 2086 genome.wustl.edu 37 7 64452432 64452432 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001007253.3 -1 reviewed p.E325K 0.038 398 0% 455 24.6% 4 0% benign(0.002) tolerated(0.26) neutral(0.034) NULL ZNF92 168374 genome.wustl.edu 37 7 64863537 64863537 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_152626.2 +1 validated p.K170N 0.959 190 0% 186 11.8% 1 0% benign(0.047) deleterious(0.04) neutral(0.352) superfamily_C2H2 and C2HC zinc fingers ASL 435 genome.wustl.edu 37 7 65546843 65546843 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_000048.3 +1 reviewed p.E22D 1.000 68 0% 70 27.1% 18 33.3% benign(0.001) tolerated(0.3) neutral(0.029) HMMPfam_Lyase_1,superfamily_L-Aspartase-like AUTS2 26053 genome.wustl.edu 37 7 70250999 70250999 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000449547 +1 known p.S84L 1.000 326 0% 278 27% 6 16.6% - - - NULL CALN1 83698 genome.wustl.edu 37 7 71743707 71743707 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_031468.3 -1 validated p.E70K 1.000 124 0% 104 27.9% 0 - benign(0.004) tolerated(0.49) neutral(0.011) NULL FZD9 8326 genome.wustl.edu 37 7 72849620 72849620 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_003508.2 +1 reviewed p.R428H 1.000 88 0% 80 25% 1 100% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Frizzled BAZ1B 9031 genome.wustl.edu 37 7 72892665 72892665 + Missense_Mutation SNP T T C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_032408.3 -1 validated p.N376D 0.560 372 0% 426 14.3% 8 25% benign(0.003) tolerated(0.05) neutral(0.345) NULL STX1A 6804 genome.wustl.edu 37 7 73117213 73117213 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_004603.3 -1 reviewed p.D214N 1.000 112 0% 116 15.5% 6 83.3% benign(0.184) tolerated(0.06) neutral(0.340) HMMPfam_SNARE,HMMSmart_SM00397,PatternScan_SYNTAXIN,superfamily_t-snare proteins GTF2IRD2 84163 genome.wustl.edu 37 7 74212066 74212066 + Silent SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_173537.2 -1 validated p.I595 0.873 248 0% 246 26% 3 66.6% - - - NULL FGL2 10875 genome.wustl.edu 37 7 76828828 76828828 + Missense_Mutation SNP A A G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_006682.2 -1 reviewed p.S95P 0.674 204 0% 237 27.4% 16 25% benign(0.264) deleterious(0.05) neutral(0.373) NULL CCDC146 57639 genome.wustl.edu 37 7 76908093 76908093 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_020879.2 +1 validated p.E489K 0.998 282 0% 344 25.6% 2 50% possibly_damaging(0.832) tolerated(0.07) deleterious(0.636) NULL PHTF2 57157 genome.wustl.edu 37 7 77567099 77567099 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001127357.1 +1 validated p.D437Y 1.000 180 0% 213 34.3% 2 0% probably_damaging(0.971) deleterious(0) deleterious(0.857) NULL PCLO 27445 genome.wustl.edu 37 7 82580669 82580669 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_033026.5 -1 validated p.G3079R 1.000 367 0% 421 29.9% 0 - probably_damaging(1) - - NULL GRM3 2913 genome.wustl.edu 37 7 86468379 86468379 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_000840.2 +1 reviewed p.E517* 1.000 132 0% 137 24.1% 0 - - - - HMMPfam_NCD3G,superfamily_Periplasmic binding protein-like I ABCB1 5243 genome.wustl.edu 37 7 87183240 87183240 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_000927.3 -1 reviewed p.K279T 1.000 607 0% 556 14.6% 8 0% benign(0.001) deleterious(0.04) neutral(0.349) HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain SLC25A40 55972 genome.wustl.edu 37 7 87479242 87479242 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_018843.2 -1 validated p.R96* 1.000 133 0% 93 17.2% 4 25% - - - superfamily_Mitochondrial carrier,HMMPfam_Mito_carr C7orf62 219557 genome.wustl.edu 37 7 88423853 88423853 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_152706.2 -1 predicted p.S135Y 0.778 118 0% 105 22.9% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL ZNF804B 219578 genome.wustl.edu 37 7 88964905 88964905 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_181646.2 +1 provisional p.R870I 0.000 106 0% 115 23.5% 0 - benign(0) deleterious(0) neutral(0.445) NULL C7orf63 79846 genome.wustl.edu 37 7 89887447 89887447 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001039706.2 +1 validated p.K72N 0.969 231 0% 308 22.7% 0 - probably_damaging(0.982) deleterious(0.03) deleterious(0.791) superfamily_ARM-type_fold ENSG00000240720 0 genome.wustl.edu 37 7 91793381 91793381 + Missense_Mutation SNP A A G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000430130 -1 known p.L379P 0.980 86 0% 66 21.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00369,superfamily_L domain-like SAMD9 54809 genome.wustl.edu 37 7 92731023 92731023 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_017654.2 -1 validated p.S1463Y 0.972 304 0.3% 278 20.9% 8 50% probably_damaging(0.981) deleterious(0.02) deleterious(0.808) NULL SAMD9 54809 genome.wustl.edu 37 7 92732061 92732061 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_017654.2 -1 validated p.S1117Y 1.000 207 0% 228 25.4% 1 0% probably_damaging(0.981) deleterious(0) deleterious(0.870) NULL CCDC132 55610 genome.wustl.edu 37 7 92953033 92953033 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_017667.2 +1 validated p.R656W 1.000 247 0% 239 22.2% 6 33.3% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL PON1 5444 genome.wustl.edu 37 7 94928407 94928407 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_000446.5 -1 reviewed p.R306Q 0.462 123 0% 94 24.5% 0 - possibly_damaging(0.716) tolerated(0.1) deleterious(0.545) superfamily_Calcium-dependent phosphotriesterase LMTK2 22853 genome.wustl.edu 37 7 97821038 97821038 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_014916.3 +1 reviewed p.D421N 1.000 102 0% 122 21.3% 1 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_Protein kinase-like (PK-like) TRRAP 8295 genome.wustl.edu 37 7 98487990 98487990 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_003496.2 +1 validated p.F61 1.000 458 0% 493 15.4% 0 - - - - superfamily_ARM repeat SMURF1 57154 genome.wustl.edu 37 7 98655050 98655050 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_020429.1 -1 reviewed p.D110Y 1.000 463 0% 342 26.6% 4 0% probably_damaging(0.987) deleterious(0.02) deleterious(0.820) HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) FAM200A 221786 genome.wustl.edu 37 7 99145297 99145297 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_145111.2 -1 validated p.R245Q 0.849 266 0% 319 23.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL STAG3 10734 genome.wustl.edu 37 7 99798391 99798391 + Splice_Site SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_012447.2 +1 validated e18-1 1.000 53 0% 52 21.2% 3 33.3% - - - - ZAN 7455 genome.wustl.edu 37 7 100364270 100364270 + Silent SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_003386.1 +1 reviewed p.I1531 0.084 81 0% 92 28.3% 0 - - - - HMMSmart_SM00215 SRRT 51593 genome.wustl.edu 37 7 100486236 100486236 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000445337 +1 known p.R134I 0.994 81 0% 67 20.9% 39 46.1% unknown(0) - - NULL MUC12 10071 genome.wustl.edu 37 7 100638739 100638739 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000379442 +1 known p.S1775Y 0.001 1010 0.3% 1304 16.3% 0 - unknown(0) - - NULL LRRC17 10234 genome.wustl.edu 37 7 102574546 102574546 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001031692.2 +1 validated p.E62 0.998 79 0% 52 30.8% 0 - - - - superfamily_RNI-like LHFPL3 375612 genome.wustl.edu 37 7 103969614 103969614 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_199000.2 +1 reviewed p.F129L 1.000 146 0% 101 29.7% 0 - possibly_damaging(0.463) tolerated(0.36) neutral(0.172) HMMPfam_L_HGMIC_fpl MLL5 55904 genome.wustl.edu 37 7 104746993 104746993 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_018682.3 +1 reviewed p.R874Q 1.000 217 0% 240 27.5% 11 0% unknown(0) deleterious(0.01) - NULL PUS7 54517 genome.wustl.edu 37 7 105103129 105103129 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_019042.3 -1 validated p.R566* 1.000 427 0.2% 424 23.6% 1 0% - - - HMMPfam_TruD,superfamily_PsdUridine_synth_cat_dom CDHR3 222256 genome.wustl.edu 37 7 105655615 105655615 + Missense_Mutation SNP C C T rs141860028 by1000genomes TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_152750.4 +1 validated p.T428M 0.000 307 0.7% 343 17.2% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMSmart_SM00112,superfamily_Cadherin-like PIK3CG 5294 genome.wustl.edu 37 7 106545739 106545739 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_002649.2 +1 reviewed p.I1072 0.111 207 0% 309 22.7% 2 0% - - - HMMSmart_SM00146,superfamily_Protein kinase-like (PK-like) SLC26A4 5172 genome.wustl.edu 37 7 107303845 107303845 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_000441.1 +1 reviewed p.S90L 0.997 267 0% 260 28.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL CBLL1 79872 genome.wustl.edu 37 7 107389385 107389385 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_024814.2 +1 validated p.R25Q 1.000 320 0% 401 24.2% 1 0% possibly_damaging(0.451) tolerated(0.12) neutral(0.408) NULL THAP5 168451 genome.wustl.edu 37 7 108205150 108205150 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001130475.1 -1 validated p.L225I 0.008 135 0% 169 30.2% 3 33.3% benign(0.001) tolerated(0.29) neutral(0.029) NULL GPR85 54329 genome.wustl.edu 37 7 112724143 112724143 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_018970.6 -1 validated p.R212* 1.000 124 0% 103 27.2% 4 0% - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like PPP1R3A 5506 genome.wustl.edu 37 7 113518125 113518125 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_002711.3 -1 reviewed p.L1008I 0.036 423 0% 443 25.3% 0 - possibly_damaging(0.911) tolerated(0.15) deleterious(0.604) NULL TES 26136 genome.wustl.edu 37 7 115889245 115889245 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_015641.2 +1 reviewed p.T95 1.000 226 0% 228 27.2% 33 30.3% - - - HMMPfam_PET MET 4233 genome.wustl.edu 37 7 116339325 116339325 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001127500.1 +1 reviewed p.F63V 1.000 255 0% 273 12.8% 1 0% possibly_damaging(0.434) deleterious(0) deleterious(0.586) HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema CFTR 1080 genome.wustl.edu 37 7 117232393 117232393 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_000492.3 +1 reviewed p.I724 0.002 115 0% 157 23.6% 2 50% - - - NULL PTPRZ1 5803 genome.wustl.edu 37 7 121616298 121616298 + Silent SNP A A G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_002851.2 +1 reviewed p.L176 1.000 395 0% 438 26.9% 0 - - - - HMMPfam_Carb_anhydrase,superfamily_Carbonic anhydrase PTPRZ1 5803 genome.wustl.edu 37 7 121650505 121650505 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_002851.2 +1 reviewed p.R469C 0.044 162 0% 263 31.2% 0 - possibly_damaging(0.875) deleterious(0.01) deleterious(0.746) NULL PTPRZ1 5803 genome.wustl.edu 37 7 121652851 121652851 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_002851.2 +1 reviewed p.H1251N 0.085 192 0% 156 23.1% 0 - benign(0) tolerated(1) - NULL NDUFA5 4698 genome.wustl.edu 37 7 123197546 123197546 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000470123 -1 known p.G3E 0.018 90 0% 115 15.7% 0 - benign(0.003) - - NULL ASB15 142685 genome.wustl.edu 37 7 123276904 123276904 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_080928.3 +1 validated p.R546* 1.000 140 0% 145 22.1% 0 - - - - HMMPfam_SOCS_box,HMMSmart_SM00253 LMOD2 442721 genome.wustl.edu 37 7 123303136 123303136 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_207163.1 +1 validated p.S499Y 1.000 206 0% 280 31.1% 0 - probably_damaging(0.996) deleterious(0.01) deleterious(0.867) NULL ZNF800 168850 genome.wustl.edu 37 7 127014946 127014946 + Silent SNP C C T rs185441151 by1000genomes TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000265827 -1 known p.S148 1.000 317 0.3% 359 18.9% 6 33.3% - - - NULL CCDC136 64753 genome.wustl.edu 37 7 128434764 128434764 + Silent SNP A A G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_022742.3 +1 validated p.E96 0.998 76 0% 60 25% 0 - - - - NULL CPA2 1358 genome.wustl.edu 37 7 129909625 129909625 + Silent SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001869.2 +1 reviewed p.I90 1.000 229 0% 233 31.3% 0 - - - - HMMPfam_Propep_M14,superfamily_Protease propeptides/inhibitors PLXNA4 91584 genome.wustl.edu 37 7 131870220 131870220 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_020911.1 -1 validated p.R999Q 1.000 132 0% 98 21.4% 2 0% probably_damaging(0.997) tolerated(0.07) deleterious(0.785) HMMPfam_TIG,HMMSmart_SM00429,superfamily_E set domains AGBL3 340351 genome.wustl.edu 37 7 134722182 134722182 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_178563.3 +1 provisional p.R451* 1.000 247 0% 358 28.2% 0 - - - - HMMPfam_Peptidase_M14,superfamily_Zn-dependent exopeptidases CLEC5A 23601 genome.wustl.edu 37 7 141635728 141635728 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_013252.2 -1 reviewed p.F77L 0.006 327 0% 367 22.9% 1 0% benign(0.001) tolerated(0.76) neutral(0.001) HMMSmart_SM00034,superfamily_C-type lectin-like TRBV5-4 28611 genome.wustl.edu 37 7 142168646 142168646 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000454561 -1 known p.S26N 0.000 396 0% 449 18% 0 - possibly_damaging(0.869) tolerated(0.21) neutral(0.381) HMMPfam_V-set,superfamily_Immunoglobulin TRBV6-4 28603 genome.wustl.edu 37 7 142250754 142250754 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000390360 -1 known p.A98V 0.000 131 0% 143 25.9% 0 - benign(0) tolerated(0.08) neutral(0.300) HMMPfam_V-set,superfamily_SSF48726 TRBV19 28568 genome.wustl.edu 37 7 142326870 142326870 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000390393 +1 known p.Q56H 0.599 118 0% 140 27.9% 13 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00406,HMMPfam_V-set,superfamily_Immunoglobulin CLCN1 1180 genome.wustl.edu 37 7 143016866 143016866 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_000083.2 +1 reviewed p.E67* 0.163 274 0% 276 28.6% 0 - - - - NULL OR6B1 135946 genome.wustl.edu 37 7 143701989 143701989 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001005281.1 +1 provisional p.K300N 1.000 102 0% 141 27% 0 - probably_damaging(0.996) deleterious(0.02) deleterious(0.845) superfamily_Family A G protein-coupled receptor-like PDIA4 9601 genome.wustl.edu 37 7 148709358 148709358 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_004911.4 -1 validated p.A237T 1.000 199 0% 227 30% 98 23.4% probably_damaging(0.998) deleterious(0.02) deleterious(0.857) superfamily_Thioredoxin-like,HMMPfam_Thioredoxin SSPO 23145 genome.wustl.edu 37 7 149515561 149515561 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000378016 +1 known p.T3872 0.052 184 0% 156 23.1% 0 - - - - NULL ABP1 26 genome.wustl.edu 37 7 150554950 150554950 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001091.2 +1 reviewed p.I464M 0.946 122 0% 110 29.1% 106 46.2% possibly_damaging(0.882) tolerated(0.1) deleterious(0.631) HMMPfam_Cu_amine_oxid,superfamily_Amine oxidase catalytic domain NOS3 4846 genome.wustl.edu 37 7 150707313 150707313 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_000603.4 +1 reviewed p.R875W 1.000 54 0% 73 24.7% 12 16.6% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_FAD_binding_1,superfamily_Riboflavin synthase domain-like GALNT11 63917 genome.wustl.edu 37 7 151791591 151791591 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_022087.2 +1 validated p.K93N 0.352 80 0% 84 22.6% 8 37.5% benign(0.038) tolerated(0.48) neutral(0.013) NULL CNPY1 285888 genome.wustl.edu 37 7 155301672 155301672 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001103176.1 -1 validated p.A21T 0.995 171 0% 133 19.5% 0 - probably_damaging(0.998) tolerated(0.32) deleterious(0.498) NULL RBM33 155435 genome.wustl.edu 37 7 155530776 155530776 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000392761 +1 known p.R244Q 0.009 383 0% 516 15.5% 4 0% - - - NULL NCAPG2 54892 genome.wustl.edu 37 7 158439169 158439169 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_017760.5 -1 validated p.K1054N 0.999 204 0% 234 30.8% 7 28.5% probably_damaging(0.999) tolerated(0.08) deleterious(0.790) NULL CSMD1 64478 genome.wustl.edu 37 8 2806851 2806851 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_033225.5 -1 validated p.D3459Y 1.000 406 0% 409 22.2% 0 - probably_damaging(0.991) deleterious(0.01) deleterious(0.850) NULL CSMD1 64478 genome.wustl.edu 37 8 3000022 3000022 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_033225.5 -1 validated p.S2070L 1.000 339 0% 277 24.5% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain CSMD1 64478 genome.wustl.edu 37 8 3076825 3076825 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_033225.5 -1 validated p.R1543W 1.000 181 0% 184 16.3% 0 - probably_damaging(1) tolerated(0.08) deleterious(0.800) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain MTMR9 66036 genome.wustl.edu 37 8 11174277 11174277 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_015458.3 +1 reviewed p.C403 0.961 222 0% 231 24.7% 2 0% - - - superfamily_SSF52799 ZNF705F 790969 genome.wustl.edu 37 8 12216732 12216732 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000400078 +1 known p.R244Q 0.003 631 0% 760 16.7% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 C8orf48 157773 genome.wustl.edu 37 8 13424846 13424846 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001007090.2 +1 validated p.D116N 0.000 156 0% 182 15.9% 0 - possibly_damaging(0.722) tolerated(0.46) neutral(0.274) NULL MTUS1 57509 genome.wustl.edu 37 8 17513425 17513425 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001001924.2 -1 reviewed p.R1019W 0.971 561 0% 591 29.1% 14 28.5% probably_damaging(0.985) deleterious(0) deleterious(0.877) NULL SH2D4A 63898 genome.wustl.edu 37 8 19218747 19218747 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_022071.3 +1 validated p.E210* 0.989 159 0% 182 26.4% 3 0% - - - NULL ATP6V1B2 526 genome.wustl.edu 37 8 20070411 20070411 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001693.3 +1 reviewed p.R308* 0.998 281 0% 262 31.7% 22 4.5% - - - HMMPfam_ATP-synt_ab,superfamily_P-loop containing nucleoside triphosphate hydrolases SFTPC 6440 genome.wustl.edu 37 8 22020107 22020107 + Silent SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_003018.3 +1 reviewed p.R21 0.401 302 0% 233 19.7% 0 - - - - HMMSmart_SM00019,HMMPfam_SP_C-Propep POLR3D 661 genome.wustl.edu 37 8 22105449 22105449 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001722.2 +1 reviewed p.R97* 0.174 229 0% 308 27.6% 5 0% - - - NULL ADAM7 8756 genome.wustl.edu 37 8 24348347 24348347 + Silent SNP T T C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000380789 +1 known p.C434 0.618 470 0% 601 31.3% 0 - - - - HMMPfam_Disintegrin,HMMSmart_SM00050,superfamily_Blood coagulation inhibitor (disintegrin) ADAM7 8756 genome.wustl.edu 37 8 24349452 24349452 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000380789 +1 known p.D465Y 0.903 118 0% 160 25.6% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Disintegrin,HMMSmart_SM00050,superfamily_Blood coagulation inhibitor (disintegrin) CDCA2 157313 genome.wustl.edu 37 8 25365000 25365000 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_152562.2 +1 validated p.E940* 0.168 176 0% 161 35.4% 3 33.3% - - - NULL EBF2 64641 genome.wustl.edu 37 8 25890659 25890659 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_022659.2 -1 validated p.E165K 1.000 410 0% 431 13.2% 0 - possibly_damaging(0.455) deleterious(0.01) deleterious(0.554) PatternScan_COE PTK2B 2185 genome.wustl.edu 37 8 27312066 27312066 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_004103.3 +1 reviewed p.R918W 1.000 102 0% 92 28.3% 39 28.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Focal_AT,superfamily_FAT domain of focal adhesion kinase ESCO2 157570 genome.wustl.edu 37 8 27634239 27634239 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001017420.2 +1 reviewed p.K138N 0.455 83 0% 143 14.7% 0 - possibly_damaging(0.917) deleterious(0) deleterious(0.812) NULL ESCO2 157570 genome.wustl.edu 37 8 27646473 27646473 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001017420.2 +1 reviewed p.F414C 1.000 290 0% 295 17.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL C8orf80 389643 genome.wustl.edu 37 8 27887830 27887830 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001010906.1 -1 provisional p.E672K 0.987 144 0% 116 29.3% 2 50% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL TEX15 56154 genome.wustl.edu 37 8 30700873 30700873 + Silent SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_031271.3 -1 validated p.I1887 0.999 401 0% 448 21.7% 0 - - - - NULL TEX15 56154 genome.wustl.edu 37 8 30702783 30702783 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_031271.3 -1 validated p.D1251N 0.003 228 0% 261 25.7% 0 - benign(0.15) tolerated(1) neutral(0.013) NULL MAK16 84549 genome.wustl.edu 37 8 33346629 33346629 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_032509.3 +1 validated p.R122* 1.000 296 0% 393 12.5% 2 50% - - - HMMPfam_Mak16 DUSP26 78986 genome.wustl.edu 37 8 33451237 33451237 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_024025.1 -1 provisional p.R84C 0.948 74 0% 68 30.9% 1 0% possibly_damaging(0.473) tolerated(0.1) neutral(0.443) HMMPfam_DSPc,HMMSmart_SM00195,superfamily_(Phosphotyrosine protein) phosphatases II WHSC1L1 54904 genome.wustl.edu 37 8 38156991 38156991 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_023034.1 -1 reviewed p.S910L 1.000 284 0% 389 20.1% 5 40% probably_damaging(0.978) deleterious(0.01) deleterious(0.826) superfamily_FYVE/PHD zinc finger IDO1 3620 genome.wustl.edu 37 8 39785685 39785685 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_002164.4 +1 validated p.S398F 0.000 114 0% 132 22.7% 2539 46.5% benign(0.001) tolerated(0.13) neutral(0.253) HMMPfam_IDO IDO2 169355 genome.wustl.edu 37 8 39871214 39871214 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_194294.2 +1 validated p.R297C 0.000 274 0% 236 17.8% 1 0% benign(0.013) tolerated(0.1) neutral(0.287) HMMPfam_IDO VDAC3 7419 genome.wustl.edu 37 8 42259421 42259421 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001135694.1 +1 validated p.E148K 1.000 199 0% 278 30.6% 76 40.7% benign(0) tolerated(0.85) neutral(0.001) HMMPfam_Porin_3 CHRNB3 1142 genome.wustl.edu 37 8 42585836 42585836 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_000749.3 +1 validated p.L117I 1.000 240 0% 194 19.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like PRKDC 5591 genome.wustl.edu 37 8 48767884 48767884 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000314191 -1 known p.M2219I 1.000 262 0.4% 293 24.6% 4 0% possibly_damaging(0.845) tolerated(0.21) neutral(0.368) superfamily_ARM repeat PRKDC 5591 genome.wustl.edu 37 8 48845728 48845728 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000314191 -1 known p.S543Y 0.981 107 0% 129 24% 1 0% possibly_damaging(0.801) tolerated(1) neutral(0.301) superfamily_ARM repeat RP1 6101 genome.wustl.edu 37 8 55538772 55538772 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_006269.1 +1 reviewed p.R777I 0.585 49 0% 44 13.6% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL TMEM68 137695 genome.wustl.edu 37 8 56652775 56652775 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_152417.1 -1 provisional p.T230 0.808 353 0% 385 28.8% 11 63.6% benign(0.002) tolerated(0.24) neutral(0.037) HMMSmart_PlsC FAM110B 90362 genome.wustl.edu 37 8 59059824 59059824 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_147189.2 +1 validated p.I345 0.995 99 0% 98 37.8% 3 0% - - - NULL CYP7A1 1581 genome.wustl.edu 37 8 59409434 59409434 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_000780.3 -1 reviewed p.D213N 1.000 246 0% 320 23.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_p450,superfamily_Cytochrome_P450 TOX 9760 genome.wustl.edu 37 8 59851877 59851877 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_014729.2 -1 reviewed p.S132Y 0.998 253 0% 287 26.5% 5 0% possibly_damaging(0.78) deleterious(0) deleterious(0.736) NULL ASPH 444 genome.wustl.edu 37 8 62577986 62577986 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_020164.4 -1 reviewed p.E168* 1.000 901 0% 911 11.6% 0 - - - - HMMPfam_Asp-B-Hydro_N NKAIN3 286183 genome.wustl.edu 37 8 63831052 63831052 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_173688.2 +1 provisional p.S171F 1.000 738 0% 776 24.4% 0 - benign(0) tolerated(1) - HMMPfam_NKAIN CYP7B1 9420 genome.wustl.edu 37 8 65537021 65537021 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_004820.3 -1 reviewed p.P66 0.001 259 0% 320 28.1% 1 0% - - - superfamily_Cytochrome P450 COPS5 10987 genome.wustl.edu 37 8 67970423 67970423 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_006837.2 -1 reviewed p.I134 0.985 112 0% 138 29.7% 47 53.1% - - - HMMPfam_Mov34,HMMSmart_JAB_MPN,superfamily_SSF102712 SLCO5A1 81796 genome.wustl.edu 37 8 70585235 70585235 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_030958.2 -1 reviewed p.E806K 1.000 264 0% 189 23.8% 0 - probably_damaging(0.993) deleterious(0) deleterious(0.895) NULL ZFHX4 79776 genome.wustl.edu 37 8 77616524 77616524 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_024721.4 +1 validated p.E67D 1.000 79 0% 83 30.1% 0 - possibly_damaging(0.69) tolerated(0.38) neutral(0.265) NULL ZFHX4 79776 genome.wustl.edu 37 8 77617873 77617873 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_024721.4 +1 validated p.F517C 1.000 55 0% 67 20.9% 0 - benign(0.345) - - NULL ZFHX4 79776 genome.wustl.edu 37 8 77767933 77767933 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_024721.4 +1 validated p.R2881W 0.980 169 0% 171 29.8% 0 - probably_damaging(1) - - superfamily_Homeodomain-like ZC2HC1A 51101 genome.wustl.edu 37 8 79601519 79601519 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_016010.2 +1 validated p.N139H 1.000 241 0% 297 30.3% 5 20% possibly_damaging(0.86) tolerated(0.1) deleterious(0.619) NULL DCAF4L2 138009 genome.wustl.edu 37 8 88885529 88885529 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_152418.3 -1 validated p.S224I 0.743 310 0% 345 28.4% 0 - possibly_damaging(0.746) tolerated(0.06) deleterious(0.597) superfamily_WD40_like TMEM64 169200 genome.wustl.edu 37 8 91637996 91637996 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001008495.3 -1 validated p.S349Y 1.000 345 0% 371 17.8% 5 20% benign(0.163) deleterious(0) neutral(0.459) NULL CDH17 1015 genome.wustl.edu 37 8 95182651 95182651 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001144663.1 -1 reviewed p.F347C 1.000 253 0% 346 24.3% 0 - probably_damaging(0.984) tolerated(0.18) deleterious(0.486) HMMPfam_Cadherin,superfamily_Cadherin-like PLEKHF2 79666 genome.wustl.edu 37 8 96167005 96167005 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_024613.3 +1 validated p.D245Y 1.000 80 0% 68 14.7% 10 30% unknown(0) deleterious(0.01) - NULL C8orf47 203111 genome.wustl.edu 37 8 99101681 99101681 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_173549.2 +1 validated p.N146H 0.000 100 0% 144 22.2% 1 0% possibly_damaging(0.634) tolerated(0.13) deleterious(0.475) NULL C8orf47 203111 genome.wustl.edu 37 8 99102024 99102024 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_173549.2 +1 validated p.R260I 0.000 130 0.8% 115 18.3% 0 - benign(0) tolerated(0.1) neutral(0.286) NULL KCNS2 3788 genome.wustl.edu 37 8 99440838 99440838 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_020697.2 +1 provisional p.D211N 1.000 160 0% 138 27.5% 0 - benign(0.208) deleterious(0.05) neutral(0.365) superfamily_Voltage-gated potassium channels RGS22 26166 genome.wustl.edu 37 8 101117607 101117607 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_015668.3 -1 validated p.E17* 0.654 284 0% 311 28.3% 0 - - - - NULL AZIN1 51582 genome.wustl.edu 37 8 103842139 103842139 + Silent SNP T T C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_015878.4 -1 reviewed p.P310 1.000 290 0% 338 23.1% 27 40.7% - - - HMMPfam_Orn_DAP_Arg_deC,superfamily_Racem_decarbox_C FZD6 8323 genome.wustl.edu 37 8 104337581 104337581 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_003506.3 +1 reviewed p.R416Q 1.000 226 0% 284 14.8% 14 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Frizzled ZFPM2 23414 genome.wustl.edu 37 8 106815297 106815297 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_012082.3 +1 reviewed p.S996Y 1.000 117 0% 168 30.4% 0 - possibly_damaging(0.951) deleterious(0.03) deleterious(0.758) NULL CSMD3 114788 genome.wustl.edu 37 8 113349922 113349922 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_198123.1 -1 validated p.R2231* 1.000 175 0% 236 25.4% 0 - - - - HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain CSMD3 114788 genome.wustl.edu 37 8 113651024 113651024 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_198123.1 -1 validated p.P1143S 0.998 287 0% 280 22.9% 0 - benign(0.001) tolerated(0.78) neutral(0.001) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain CSMD3 114788 genome.wustl.edu 37 8 113678546 113678546 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_198123.1 -1 validated p.E926* 1.000 276 0% 275 32.7% 0 - - - - HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain CSMD3 114788 genome.wustl.edu 37 8 113702211 113702211 + Missense_Mutation SNP A A G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_198123.1 -1 validated p.S681P 1.000 289 0% 365 23.8% 0 - unknown(0) tolerated(0.34) - HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain COL14A1 7373 genome.wustl.edu 37 8 121210112 121210112 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_021110.1 +1 validated p.D219Y 1.000 341 0.3% 362 28.2% 2 0% probably_damaging(0.993) - - HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like ZHX2 22882 genome.wustl.edu 37 8 123966025 123966025 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_014943.3 +1 reviewed p.C759G 0.000 166 0% 200 31% 10 20% benign(0) tolerated(0.52) neutral(0.009) NULL ASAP1 50807 genome.wustl.edu 37 8 131067040 131067040 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_018482.2 -1 validated p.I1109 0.974 176 0% 280 27.9% 9 22.2% - - - HMMPfam_SH3_1,HMMSmart_SH3,superfamily_SH3 ADCY8 114 genome.wustl.edu 37 8 131812727 131812727 + Missense_Mutation SNP T T C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001115.2 -1 reviewed p.N1002S 1.000 325 0% 292 26% 0 - possibly_damaging(0.751) deleterious(0.05) deleterious(0.621) HMMPfam_Guanylate_cyc,HMMSmart_CYCc,superfamily_A/G_cyclase TG 7038 genome.wustl.edu 37 8 133978816 133978816 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_003235.4 +1 reviewed p.E1854* 0.088 203 0% 184 28.3% 0 - - - - NULL NDRG1 10397 genome.wustl.edu 37 8 134254285 134254285 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001135242.1 -1 reviewed p.F308 1.000 162 0% 134 19.4% 39 23% - - - HMMPfam_Ndr,superfamily_alpha/beta-Hydrolases TRAPPC9 83696 genome.wustl.edu 37 8 141461033 141461033 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_031466.5 -1 reviewed p.R245I 1.000 78 0% 73 26% 10 60% probably_damaging(0.996) deleterious(0.02) deleterious(0.845) NULL ARC 23237 genome.wustl.edu 37 8 143694777 143694777 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_015193.3 -1 validated p.R286S 1.000 34 0% 24 16.7% 0 - probably_damaging(0.979) tolerated(0.05) deleterious(0.767) NULL NAPRT1 93100 genome.wustl.edu 37 8 144659343 144659343 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_145201.4 -1 validated p.F191 0.919 33 0% 38 36.8% 101 33.6% - - - HMMPfam_NAPRTase,superfamily_Nicotinate/Quinolinate PRTase C-terminal domain-like ZNF623 9831 genome.wustl.edu 37 8 144733142 144733142 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_014789.3 +1 validated p.R367I 0.201 207 0% 195 23.6% 2 50% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers DOCK8 81704 genome.wustl.edu 37 9 439303 439303 + Missense_Mutation SNP A A G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_203447.3 +1 reviewed p.D1645G 0.997 130 0% 175 28.6% 3 0% benign(0.308) tolerated(0.3) neutral(0.124) NULL DMRT2 10655 genome.wustl.edu 37 9 1053757 1053757 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_181872.4 +1 reviewed p.F187 0.491 246 0% 285 28.8% 0 - - - - NULL KIAA2026 158358 genome.wustl.edu 37 9 5968511 5968511 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001017969.2 -1 validated p.R574C 0.409 281 0% 255 11% 3 0% benign(0.006) deleterious(0.03) neutral(0.364) NULL KIAA2026 158358 genome.wustl.edu 37 9 5969363 5969363 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001017969.2 -1 validated p.L290I 0.975 471 0% 490 28% 1 0% probably_damaging(0.999) tolerated(0.14) deleterious(0.740) NULL PTPRD 5789 genome.wustl.edu 37 9 8331657 8331657 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_002839.3 -1 reviewed p.F1820C 1.000 339 0% 363 28.7% 1 0% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II BNC2 54796 genome.wustl.edu 37 9 16419547 16419547 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_017637.5 -1 validated p.D914N 1.000 51 0% 49 36.7% 3 0% possibly_damaging(0.707) tolerated(0.3) neutral(0.284) NULL CNTLN 54875 genome.wustl.edu 37 9 17394963 17394963 + Missense_Mutation SNP C C G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_017738.2 +1 validated p.C837W 0.608 173 0% 170 25.9% 0 - probably_damaging(0.977) deleterious(0.02) deleterious(0.802) NULL HAUS6 54801 genome.wustl.edu 37 9 19058322 19058322 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_017645.3 -1 provisional p.D815Y 0.000 196 0% 189 22.2% 8 37.5% possibly_damaging(0.775) deleterious(0) deleterious(0.733) NULL KIAA1797 54914 genome.wustl.edu 37 9 20907238 20907238 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_017794.3 +1 validated p.L905F 0.995 242 0% 271 26.6% 7 42.8% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_ARM-type_fold KIAA1797 54914 genome.wustl.edu 37 9 20907239 20907239 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_017794.3 +1 validated p.Q906K 1.000 243 0% 276 26.4% 6 33.3% probably_damaging(0.989) deleterious(0.01) deleterious(0.845) superfamily_ARM-type_fold ACO1 48 genome.wustl.edu 37 9 32419040 32419040 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_002197.2 +1 reviewed p.V221 0.999 155 0% 203 27.6% 9 44.4% - - - HMMPfam_Aconitase,superfamily_Aconitase iron-sulfur domain ANKRD18B 441459 genome.wustl.edu 37 9 33548774 33548774 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 XM_001718334.2 +1 model p.R729I 0.153 150 0% 127 18.1% 0 - possibly_damaging(0.901) deleterious(0.01) deleterious(0.762) NULL UBAP2 55833 genome.wustl.edu 37 9 33943429 33943429 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_018449.2 -1 reviewed p.S568 0.110 267 0% 279 21.1% 4 0% - - - NULL RPP25L 138716 genome.wustl.edu 37 9 34611185 34611185 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_148178.1 -1 validated p.R37C 1.000 120 0% 117 26.5% 17 29.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Alba,superfamily_SSF82704 VCP 7415 genome.wustl.edu 37 9 35067942 35067942 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_007126.3 -1 reviewed p.R83Q 1.000 339 0% 378 25.1% 93 34.4% probably_damaging(0.99) tolerated(0.1) deleterious(0.728) HMMPfam_CDC48_N,superfamily_ADC-like RNF38 152006 genome.wustl.edu 37 9 36353262 36353262 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_022781.4 -1 reviewed p.Y326D 1.000 352 0% 509 19.1% 14 35.7% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL ZBTB5 9925 genome.wustl.edu 37 9 37441420 37441420 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_014872.2 -1 validated p.R377W 0.993 94 0% 100 22% 3 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL FRMPD1 22844 genome.wustl.edu 37 9 37744410 37744410 + Missense_Mutation SNP A A G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_014907.2 +1 validated p.E794G 0.015 67 0% 82 32.9% 0 - benign(0.026) deleterious(0.04) neutral(0.350) NULL MCART1 92014 genome.wustl.edu 37 9 37888315 37888315 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_033412.3 -1 validated p.R78Q 1.000 311 0% 369 25.2% 5 0% probably_damaging(1) tolerated(0.37) deleterious(0.519) superfamily_Mitoch_carrier,HMMPfam_Mito_carr MCART1 92014 genome.wustl.edu 37 9 37888316 37888316 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_033412.3 -1 validated p.R78* 1.000 310 0% 373 23.9% 5 20% - - - superfamily_Mitoch_carrier,HMMPfam_Mito_carr CNTNAP3 79937 genome.wustl.edu 37 9 39178312 39178312 + Missense_Mutation SNP C C T rs2260583 TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_033655.3 -1 reviewed p.R195K 0.905 210 0% 221 26.7% 0 - benign(0.008) tolerated(0.13) neutral(0.253) superfamily_Concanavalin A-like lectins/glucanases ZNF658 26149 genome.wustl.edu 37 9 40773107 40773107 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_033160.5 -1 validated p.F723C 0.461 579 0.2% 640 24.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers TMEM2 23670 genome.wustl.edu 37 9 74345128 74345128 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_013390.2 -1 validated p.F605L 1.000 275 0% 328 18.9% 7 28.5% possibly_damaging(0.862) deleterious(0.01) deleterious(0.739) superfamily_Pectin lyase-like C9orf85 138241 genome.wustl.edu 37 9 74526731 74526731 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_182505.3 +1 validated p.F27 0.969 173 0% 208 27.4% 8 62.5% - - - HMMPfam_DUF2039 C9orf57 138240 genome.wustl.edu 37 9 74667276 74667276 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001128618.1 -1 validated p.R141I 0.018 386 0% 406 27.8% 0 - possibly_damaging(0.681) - - NULL ANXA1 301 genome.wustl.edu 37 9 75774284 75774284 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_000700.1 +1 reviewed p.R72Q 1.000 289 0% 408 26.2% 270 47% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Annexin,PatternScan_ANNEXIN,HMMPfam_Annexin,HMMSmart_SM00335 PRUNE2 158471 genome.wustl.edu 37 9 79322725 79322725 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_015225.2 -1 validated p.L1489I 0.105 104 0% 106 10.4% 0 - possibly_damaging(0.658) tolerated(0.24) neutral(0.270) NULL VPS13A 23230 genome.wustl.edu 37 9 79897040 79897040 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_033305.2 +1 reviewed p.N990H 1.000 275 0% 301 22.9% 0 - probably_damaging(0.992) tolerated(0.06) deleterious(0.770) NULL VPS13A 23230 genome.wustl.edu 37 9 79952307 79952307 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_033305.2 +1 reviewed p.L2078F 1.000 175 0% 161 26.7% 0 - benign(0.103) tolerated(0.23) neutral(0.050) NULL GNAQ 2776 genome.wustl.edu 37 9 80430668 80430668 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_002072.2 -1 provisional p.R114* 1.000 333 0% 325 22.8% 12 25% - - - HMMPfam_G-alpha,superfamily_Transducin (alpha subunit) insertion domain,HMMSmart_SM00275,superfamily_P-loop containing nucleoside triphosphate hydrolases CEP78 84131 genome.wustl.edu 37 9 80863686 80863686 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001098802.1 +1 validated p.W322C 1.000 392 0% 508 25.6% 3 100% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF52047 CEP78 84131 genome.wustl.edu 37 9 80863771 80863771 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001098802.1 +1 validated p.K351Q 1.000 249 0% 308 26.6% 1 0% probably_damaging(0.998) deleterious(0.03) deleterious(0.839) NULL CEP78 84131 genome.wustl.edu 37 9 80866888 80866888 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001098802.1 +1 validated p.A379 0.446 144 0% 140 16.4% 1 0% - - - NULL TLE4 7091 genome.wustl.edu 37 9 82337464 82337464 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000376527 +1 known p.P448S 1.000 261 0% 302 29.8% 4 0% - - - NULL UBQLN1 29979 genome.wustl.edu 37 9 86322433 86322433 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_013438.4 -1 reviewed p.E54 1.000 31 0% 17 29.4% 14 28.5% - - - HMMPfam_ubiquitin,HMMSmart_SM00213,superfamily_Ubiquitin-like DAPK1 1612 genome.wustl.edu 37 9 90315115 90315115 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_004938.2 +1 reviewed p.R945Q 1.000 381 0% 361 24.1% 2 0% probably_damaging(0.97) deleterious(0) deleterious(0.857) NULL CTSL1 1514 genome.wustl.edu 37 9 90345958 90345958 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001912.4 +1 reviewed p.K313T 0.942 272 0% 323 22% 127 22% possibly_damaging(0.785) tolerated(0.1) deleterious(0.581) PatternScan_THIOL_PROTEASE_ASN,HMMPfam_Peptidase_C1,HMMSmart_Pept_C1,superfamily_SSF54001 C9orf79 286234 genome.wustl.edu 37 9 90501165 90501165 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_178828.4 +1 validated p.S588Y 0.000 59 0% 59 20.3% 0 - benign(0.215) tolerated(0.15) neutral(0.262) NULL AUH 549 genome.wustl.edu 37 9 94087606 94087606 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001698.2 -1 reviewed p.D167N 1.000 353 0.3% 363 29.5% 23 34.7% benign(0.043) tolerated(0.26) neutral(0.037) HMMPfam_ECH,superfamily_ClpP/crotonase NOL8 55035 genome.wustl.edu 37 9 95078323 95078323 + Nonsense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_017948.5 -1 validated p.L195* 0.994 460 0% 472 27.1% 4 25% - - - NULL ENSG00000218940 0 genome.wustl.edu 37 9 95599057 95599057 + Splice_Site SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000375504 +1 known e7-2 0.771 43 0% 39 25.6% 0 - - - - - ZNF484 83744 genome.wustl.edu 37 9 95608599 95608599 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_031486.1 -1 provisional p.K824Q 0.912 441 0% 469 26% 5 20% possibly_damaging(0.919) tolerated(0.21) neutral(0.413) NULL ZNF484 83744 genome.wustl.edu 37 9 95609939 95609939 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_031486.1 -1 provisional p.I377S 0.000 72 0% 39 35.9% 1 0% benign(0.098) deleterious(0.02) neutral(0.391) HMMSmart_ZnF_C2H2,superfamily_SSF57667 BARX1 56033 genome.wustl.edu 37 9 96715187 96715187 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_021570.3 -1 reviewed p.T169M 1.000 126 0% 102 17.6% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like PTCH1 5727 genome.wustl.edu 37 9 98209263 98209263 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_000264.3 -1 reviewed p.S1425 0.275 77 0% 97 27.8% 9 11.1% unknown(0) - - NULL PTCH1 5727 genome.wustl.edu 37 9 98268780 98268780 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_000264.3 -1 reviewed p.F101L 1.000 167 0% 170 23.5% 2 0% benign(0.003) deleterious(0.05) neutral(0.345) NULL C9orf174 100499483 genome.wustl.edu 37 9 100128913 100128913 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_020893.1 +1 predicted p.E1363K 0.231 137 0% 181 11% 2 0% probably_damaging(0.994) deleterious(0.02) deleterious(0.835) NULL C9orf174 100499483 genome.wustl.edu 37 9 100136874 100136874 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_020893.1 +1 predicted p.L1539 0.579 177 0% 207 29.5% 1 0% - - - NULL TDRD7 23424 genome.wustl.edu 37 9 100222496 100222496 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_014290.2 +1 validated p.L298I 0.994 196 0.5% 209 28.7% 7 14.2% benign(0.005) tolerated(0.27) neutral(0.034) NULL GABBR2 9568 genome.wustl.edu 37 9 101168368 101168368 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_005458.7 -1 reviewed p.F431C 1.000 385 0% 426 22.1% 0 - benign(0.408) deleterious(0.01) deleterious(0.538) HMMPfam_ANF_receptor,superfamily_SSF53822 NR4A3 8013 genome.wustl.edu 37 9 102595910 102595910 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000395096 +1 known p.I291L 0.601 54 0% 23 17.4% 0 - benign(0.005) tolerated(1) - NULL GRIN3A 116443 genome.wustl.edu 37 9 104432950 104432950 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_133445.2 -1 reviewed p.D582N 1.000 238 0.8% 227 26.4% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMSmart_PBPe,HMMPfam_Lig_chan-Glu_bd,superfamily_SSF53850 SMC2 10592 genome.wustl.edu 37 9 106901525 106901525 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001042550.1 +1 validated p.Q1175K 1.000 312 0% 368 27.2% 4 25% benign(0.001) tolerated(0.52) neutral(0.009) NULL OR13F1 138805 genome.wustl.edu 37 9 107267472 107267472 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001004485.1 +1 provisional p.F310C 0.279 57 0% 40 40% 0 - possibly_damaging(0.592) tolerated(0.13) neutral(0.457) superfamily_SSF81321 MUSK 4593 genome.wustl.edu 37 9 113563224 113563224 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_005592.3 +1 reviewed p.L856 1.000 52 0% 38 28.9% 0 - - - - HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) ORM1 5004 genome.wustl.edu 37 9 117086082 117086082 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_000607.2 +1 reviewed p.T85I 0.334 447 0% 472 10.2% 0 - probably_damaging(0.99) deleterious(0.01) deleterious(0.847) HMMPfam_Lipocalin,superfamily_Calycin TNC 3371 genome.wustl.edu 37 9 117853104 117853104 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_002160.2 -1 validated p.S65L 1.000 169 0% 168 24.4% 8 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL DBC1 1620 genome.wustl.edu 37 9 121929911 121929911 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_014618.2 -1 validated p.F579 0.707 48 0% 34 38.2% 0 - - - - NULL MEGF9 1955 genome.wustl.edu 37 9 123367864 123367864 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001080497.1 -1 provisional p.L508F 1.000 216 0% 265 19.6% 5 20% probably_damaging(0.979) deleterious(0.04) deleterious(0.771) NULL LOC729012 729012 genome.wustl.edu 37 9 125524322 125524322 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 XM_001130187.3 +1 model p.T59N 0.569 436 0% 402 22.1% 0 - possibly_damaging(0.527) deleterious(0.03) deleterious(0.542) NULL ZBTB26 57684 genome.wustl.edu 37 9 125681488 125681488 + Silent SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_020924.2 -1 provisional p.L242 0.712 366 0% 507 20.7% 4 0% - - - NULL RABGAP1 23637 genome.wustl.edu 37 9 125861826 125861826 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_012197.3 +1 validated p.R963W 1.000 378 0% 403 20.1% 18 50% probably_damaging(0.996) deleterious(0.03) deleterious(0.826) NULL STRBP 55342 genome.wustl.edu 37 9 125910127 125910127 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_018387.4 -1 validated p.K356N 1.000 455 0% 558 19.2% 13 53.8% probably_damaging(0.991) deleterious(0.01) deleterious(0.850) NULL STRBP 55342 genome.wustl.edu 37 9 125920691 125920691 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_018387.4 -1 validated p.D285Y 1.000 259 0% 311 25.7% 30 30% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DZF,HMMSmart_SM00572 GAPVD1 26130 genome.wustl.edu 37 9 128116970 128116970 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_015635.2 +1 validated p.R1230* 1.000 161 0% 151 25.2% 4 0% - - - NULL CERCAM 51148 genome.wustl.edu 37 9 131186871 131186871 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_016174.4 +1 validated p.F248 0.998 119 0% 133 27.8% 12 8.3% - - - NULL SPTAN1 6709 genome.wustl.edu 37 9 131394744 131394744 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001130438.1 +1 validated p.E2332* 1.000 112 0% 125 24% 89 1.1% - - - HMMSmart_EFh,HMMPfam_efhand,superfamily_SSF47473 SET 6418 genome.wustl.edu 37 9 131455237 131455237 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001122821.1 +1 validated p.E170K 1.000 290 0% 261 15.7% 219 36% benign(0.002) tolerated(0.28) neutral(0.032) HMMPfam_NAP ENDOG 2021 genome.wustl.edu 37 9 131584797 131584797 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_004435.2 +1 reviewed p.E268K 1.000 107 0.9% 109 22.9% 63 53.9% benign(0.423) deleterious(0.04) deleterious(0.486) HMMPfam_Endonuclease_NS,HMMSmart_SM00477,superfamily_His-Me finger endonucleases PRRX2 51450 genome.wustl.edu 37 9 132482894 132482894 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_016307.3 +1 reviewed p.R156H 0.723 71 0% 60 26.7% 11 18.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like,PatternScan_HOMEOBOX_1 GPR107 57720 genome.wustl.edu 37 9 132854651 132854651 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001136557.1 +1 validated p.R285Q 1.000 428 0% 394 31.5% 6 16.6% probably_damaging(1) tolerated(0.32) deleterious(0.524) HMMPfam_Lung_7-TM_R POMT1 10585 genome.wustl.edu 37 9 134381508 134381508 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_007171.3 +1 reviewed p.E44K 1.000 369 0% 326 22.4% 3 33.3% possibly_damaging(0.911) deleterious(0) deleterious(0.807) HMMPfam_PMT UCK1 83549 genome.wustl.edu 37 9 134404901 134404901 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_031432.2 -1 validated p.P113 0.001 405 0% 445 30.6% 19 21% - - - HMMPfam_PRK,superfamily_SSF52540 RAPGEF1 2889 genome.wustl.edu 37 9 134454984 134454984 + Missense_Mutation SNP A A G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_198679.1 -1 reviewed p.F1063S 1.000 393 0% 432 27.1% 29 10.3% probably_damaging(1) tolerated(0.08) deleterious(0.800) HMMSmart_RasGEF,superfamily_Ras_GEF GTF3C4 9329 genome.wustl.edu 37 9 135555034 135555034 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_012204.2 +1 validated p.I676 0.873 144 0% 200 20% 3 33.3% - - - NULL RALGDS 5900 genome.wustl.edu 37 9 135982591 135982591 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_006266.2 -1 validated p.A432T 1.000 98 0% 85 23.5% 19 26.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RasGEF,HMMSmart_SM00147,superfamily_Ras GEF SURF4 6836 genome.wustl.edu 37 9 136230266 136230266 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000485435 -1 known p.P185S 0.963 81 0% 52 23.1% 128 29.6% unknown(0) - - NULL FCN1 2219 genome.wustl.edu 37 9 137801436 137801436 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000371807 -1 known p.Q221H 0.338 11 0.000 8 0.500 0 - unknown(0) deleterious(0) - HMMSmart_SM00186 PITRM1 10531 genome.wustl.edu 37 10 3202454 3202454 + Missense_Mutation SNP T T C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_014889.2 -1 validated p.K287R 1.000 323 0% 366 26% 11 45.4% benign(0.252) tolerated(0.38) neutral(0.043) HMMPfam_Peptidase_M16_C,superfamily_LuxS/MPP-like metallohydrolase GDI2 2665 genome.wustl.edu 37 10 5828009 5828009 + Silent SNP T T C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001494.3 -1 reviewed p.L131 1.000 241 0% 237 29.1% 65 41.5% - - - HMMPfam_GDI,superfamily_FAD/NAD(P)-binding domain ITIH5 80760 genome.wustl.edu 37 10 7658002 7658002 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000461751 -1 known p.E72* 1.000 322 0% 455 13% 8 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL C10orf47 254427 genome.wustl.edu 37 10 11894094 11894094 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_153256.3 +1 validated p.R6 0.041 101 0% 98 33.7% 9 44.4% - - - NULL CAMK1D 57118 genome.wustl.edu 37 10 12708747 12708747 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_153498.2 +1 reviewed p.E79D 1.000 468 0% 527 22.8% 4 0% benign(0) deleterious(0.02) neutral(0.383) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase OPTN 10133 genome.wustl.edu 37 10 13160956 13160956 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001008211.1 +1 reviewed p.T232I 1.000 197 0% 235 29.8% 80 20% probably_damaging(1) tolerated(0.08) deleterious(0.800) NULL PHYH 5264 genome.wustl.edu 37 10 13337568 13337568 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_006214.3 -1 reviewed p.R58I 1.000 256 0% 351 19.7% 25 44% possibly_damaging(0.595) deleterious(0.03) deleterious(0.571) NULL CUBN 8029 genome.wustl.edu 37 10 17032429 17032429 + Silent SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001081.3 -1 reviewed p.I1418 1.000 204 0% 245 24.1% 0 - - - - HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain CUBN 8029 genome.wustl.edu 37 10 17153024 17153024 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001081.3 -1 reviewed p.C303 0.329 238 0.4% 268 19.4% 0 - - - - HMMSmart_SM00179,HMMSmart_SM00181,HMMPfam_EGF_CA,superfamily_EGF/Laminin SLC39A12 221074 genome.wustl.edu 37 10 18242289 18242289 + Silent SNP A A G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001145195.1 +1 validated p.K28 0.000 231 0% 270 32.6% 0 - - - - NULL PLXDC2 84898 genome.wustl.edu 37 10 20506412 20506412 + Missense_Mutation SNP A A G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_032812.7 +1 provisional p.T394A 0.998 253 0% 234 23.5% 8 0% benign(0.007) tolerated(0.55) neutral(0.007) NULL NEBL 10529 genome.wustl.edu 37 10 21129775 21129775 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_006393.2 -1 reviewed p.E411* 1.000 389 0% 387 23.8% 0 - - - - HMMPfam_Nebulin,HMMSmart_SM00227 C10orf140 387640 genome.wustl.edu 37 10 21806483 21806483 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_207371.3 -1 validated p.A90V 1.000 93 0% 93 20.4% 0 - unknown(0) deleterious(0.01) - HMMPfam_Ski_Sno,superfamily_Putative DNA-binding domain MLLT10 8028 genome.wustl.edu 37 10 21959445 21959445 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_004641.2 +1 validated p.R288L 1.000 209 0.5% 250 19.6% 6 33.3% benign(0.11) deleterious(0) neutral(0.453) NULL ARHGAP21 57584 genome.wustl.edu 37 10 24874894 24874894 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_020824.3 -1 validated p.F1442V 0.142 360 0% 349 30.4% 7 28.5% benign(0.017) tolerated(0.06) neutral(0.323) NULL GPR158 57512 genome.wustl.edu 37 10 25464793 25464793 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_020752.2 +1 validated p.Q148H 1.000 40 0% 55 34.5% 0 - benign(0.003) tolerated(0.44) neutral(0.013) NULL GPR158 57512 genome.wustl.edu 37 10 25755615 25755615 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_020752.2 +1 validated p.T457 0.980 239 0% 263 22.8% 0 - - - - HMMPfam_7tm_3 GPR158 57512 genome.wustl.edu 37 10 25885599 25885599 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_020752.2 +1 validated p.D676N 1.000 230 0% 304 22% 0 - probably_damaging(0.997) deleterious(0.04) deleterious(0.815) NULL MYO3A 53904 genome.wustl.edu 37 10 26417340 26417340 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_017433.4 +1 reviewed p.S712I 1.000 252 0% 280 26.1% 0 - benign(0.119) deleterious(0.03) neutral(0.374) HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 MASTL 84930 genome.wustl.edu 37 10 27462069 27462069 + Missense_Mutation SNP C C T rs181913798 by1000genomes TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_032844.3 +1 reviewed p.S715L 0.841 198 0% 219 22.4% 5 20% benign(0.028) tolerated(0.45) neutral(0.013) superfamily_Kinase_like PTCHD3 374308 genome.wustl.edu 37 10 27692272 27692272 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001034842.3 -1 validated p.R409Q 0.019 173 0% 186 25.8% 0 - probably_damaging(0.991) deleterious(0.01) deleterious(0.850) HMMPfam_Patched,superfamily_Multidrug efflux transporter AcrB transmembrane domain NRP1 8829 genome.wustl.edu 37 10 33471654 33471654 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_003873.5 -1 validated p.K818N 1.000 298 0% 253 27.3% 13 0% benign(0.273) tolerated(0.46) neutral(0.041) NULL ZNF33A 7581 genome.wustl.edu 37 10 38343889 38343889 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_006954.1 +1 validated p.D279E 0.152 196 0% 158 26.6% 5 40% benign(0.026) tolerated(1) neutral(0.001) NULL ZNF33A 7581 genome.wustl.edu 37 10 38345239 38345239 + Silent SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_006954.1 +1 validated p.I729 0.774 406 0% 454 23.1% 6 16.6% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers SYT15 83849 genome.wustl.edu 37 10 46967544 46967544 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_031912.3 -1 reviewed p.S178L 0.783 101 0% 88 12.5% 0 - - - - HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) PPYR1 5540 genome.wustl.edu 37 10 47087175 47087175 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_005972.4 +1 validated p.S131L 1.000 424 0% 355 11.3% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like ANXA8L2 244 genome.wustl.edu 37 10 47753922 47753922 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001630.2 +1 reviewed p.E98K 0.998 713 0.3% 696 8.9% 0 - possibly_damaging(0.838) tolerated(0.1) deleterious(0.607) superfamily_Annexin,HMMPfam_Annexin FAM170B 170370 genome.wustl.edu 37 10 50339819 50339819 + Missense_Mutation SNP A A G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000311787 -1 known p.F231L 1.000 70 0% 66 27.3% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL ASAH2 56624 genome.wustl.edu 37 10 52008306 52008306 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_019893.2 -1 validated p.A22V 0.822 286 0% 372 28.8% 0 - benign(0.001) tolerated(1) - NULL CSTF2T 23283 genome.wustl.edu 37 10 53459026 53459026 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_015235.2 -1 validated p.E95A 1.000 191 0% 134 24.6% 11 36.3% benign(0.243) deleterious(0.01) neutral(0.430) superfamily_RNA-binding domain RBD IPMK 253430 genome.wustl.edu 37 10 59986889 59986889 + Silent SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_152230.3 -1 provisional p.A96 1.000 294 0% 352 20.2% 1 0% - - - HMMPfam_IPK,superfamily_SSF56104 SLC16A9 220963 genome.wustl.edu 37 10 61424015 61424015 + Missense_Mutation SNP G G C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_194298.2 -1 validated p.R136G 0.999 195 0% 256 30.5% 5 20% probably_damaging(0.982) deleterious(0) deleterious(0.871) HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter ANK3 288 genome.wustl.edu 37 10 61815794 61815794 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_020987.2 -1 reviewed p.S4229 1.000 162 0.6% 186 31.2% 13 38.4% - - - NULL ARID5B 84159 genome.wustl.edu 37 10 63810648 63810648 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_032199.2 +1 validated p.A245 1.000 243 0% 246 24% 4 25% - - - NULL ARID5B 84159 genome.wustl.edu 37 10 63852134 63852134 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_032199.2 +1 validated p.S971L 0.001 93 0% 73 35.6% 6 33.3% benign(0) tolerated(0.2) neutral(0.049) NULL DNA2 1763 genome.wustl.edu 37 10 70225446 70225446 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001080449.1 -1 provisional p.E275* 1.000 285 0% 269 21.2% 1 0% - - - HMMPfam_Dna2 CCAR1 55749 genome.wustl.edu 37 10 70516049 70516049 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_018237.2 +1 validated p.R549C 1.000 338 0% 328 18.6% 28 28.5% unknown(0) tolerated(0.06) - NULL ENSG00000247499 0 genome.wustl.edu 37 10 70546485 70546485 + RNA SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000501160 -1 known NULL 0.001 118 0% 135 28.1% 1 0% - - - - KIAA1279 26128 genome.wustl.edu 37 10 70775629 70775629 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_015634.3 +1 reviewed p.E441D 1.000 188 0% 226 26.5% 21 52.3% possibly_damaging(0.672) tolerated(0.28) neutral(0.269) NULL C10orf27 219793 genome.wustl.edu 37 10 72541687 72541687 + Silent SNP G G A rs188354458 by1000genomes TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_152710.2 -1 validated p.F49 0.002 157 0.6% 162 16.7% 0 - - - - NULL LDB3 11155 genome.wustl.edu 37 10 88451697 88451697 + Missense_Mutation SNP T T C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_007078.2 +1 reviewed p.V245A 1.000 113 0% 136 27.9% 1 0% possibly_damaging(0.662) deleterious(0.01) deleterious(0.640) NULL MMRN2 79812 genome.wustl.edu 37 10 88703547 88703547 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_024756.2 -1 validated p.D332N 0.012 130 0% 103 21.4% 15 0% probably_damaging(0.974) deleterious(0.04) deleterious(0.765) NULL PTEN 5728 genome.wustl.edu 37 10 89624245 89624245 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000371953 +1 known p.E7* 1.000 384 0% 391 20.5% 35 45.7% - - - NULL PTEN 5728 genome.wustl.edu 37 10 89711899 89711899 + Missense_Mutation SNP C C T rs121913293 TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000371953 +1 known p.R173C 1.000 360 0% 397 24.2% 32 37.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II PTEN 5728 genome.wustl.edu 37 10 89720870 89720870 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000371953 +1 known p.F341V 1.000 76 0% 113 31.9% 31 29% probably_damaging(0.995) deleterious(0.02) deleterious(0.841) superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_PTEN_C2 KIF20B 9585 genome.wustl.edu 37 10 91468936 91468936 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_016195.2 +1 validated p.E54K 0.999 96 0% 114 32.5% 0 - benign(0.066) tolerated(0.38) neutral(0.022) superfamily_P-loop containing nucleoside triphosphate hydrolases KIF20B 9585 genome.wustl.edu 37 10 91528551 91528551 + Missense_Mutation SNP A A G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_016195.2 +1 validated p.I1676M 0.003 328 0% 358 25.7% 3 100% benign(0.163) deleterious(0) neutral(0.459) NULL KIF11 3832 genome.wustl.edu 37 10 94408130 94408130 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_004523.3 +1 reviewed p.K903N 0.098 155 0% 200 30% 11 54.5% possibly_damaging(0.926) tolerated(0.11) deleterious(0.646) NULL NOC3L 64318 genome.wustl.edu 37 10 96099494 96099494 + Splice_Site SNP A A G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_022451.9 -1 provisional e17+2 1.000 94 0% 118 24.6% 0 - - - - - CYP2C8 1558 genome.wustl.edu 37 10 96798705 96798705 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_000770.3 -1 reviewed p.D414Y 1.000 416 0% 536 25.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_p450,superfamily_Cytochrome_P450 PDLIM1 9124 genome.wustl.edu 37 10 97007027 97007027 + Silent SNP C C T rs141682059 by1000genomes TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_020992.2 -1 provisional p.P210 0.000 261 0.4% 322 23.9% 96 30.2% - - - NULL ENSG00000200728 0 genome.wustl.edu 37 10 97872509 97872509 + RNA SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000363858 +1 novel NULL 0.051 153 0% 182 33% 0 - - - - - TLL2 7093 genome.wustl.edu 37 10 98180773 98180773 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_012465.3 -1 validated p.S288F 1.000 329 0% 310 16.5% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_Astacin,HMMSmart_ZnMc,superfamily_SSF55486 ANKRD2 26287 genome.wustl.edu 37 10 99340708 99340708 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_020349.2 +1 validated p.R212W 1.000 82 0% 111 27.9% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_Ank,superfamily_Ankyrin repeat HOGA1 112817 genome.wustl.edu 37 10 99371299 99371299 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_138413.3 +1 validated p.K289N 1.000 164 0% 174 20.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DHDPS,superfamily_Aldolase HPS1 3257 genome.wustl.edu 37 10 100182169 100182169 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_000195.2 -1 reviewed p.S567L 0.818 107 0% 85 28.2% 48 37.5% probably_damaging(0.992) deleterious(0.04) deleterious(0.796) NULL GOT1 2805 genome.wustl.edu 37 10 101180382 101180382 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_002079.2 -1 reviewed p.R100Q 1.000 126 0.8% 93 30.1% 72 48.6% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Aminotran_1_2,superfamily_PLP-dependent transferases ENTPD7 57089 genome.wustl.edu 37 10 101460788 101460788 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_020354.3 +1 validated p.S465* 1.000 378 0% 467 25.7% 4 25% - - - HMMPfam_GDA1_CD39 CPN1 1369 genome.wustl.edu 37 10 101835823 101835823 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001308.2 -1 reviewed p.E89K 1.000 83 0% 66 15.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Peptidase_M14,HMMSmart_SM00631,PatternScan_CARBOXYPEPT_ZN_1,superfamily_Zn-dependent exopeptidases SCD 6319 genome.wustl.edu 37 10 102107823 102107823 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_005063.4 +1 validated p.I10 0.996 445 0% 485 22.9% 25 40% - - - NULL WNT8B 7479 genome.wustl.edu 37 10 102241717 102241717 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_003393.3 +1 reviewed p.G139E 1.000 195 0% 230 22.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_wnt,HMMSmart_WNT1 MGEA5 10724 genome.wustl.edu 37 10 103558652 103558652 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_012215.3 -1 validated p.R586* 1.000 340 0% 369 21.1% 14 0% - - - NULL C10orf76 79591 genome.wustl.edu 37 10 103753315 103753315 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_024541.2 -1 validated p.R419* 1.000 333 0% 411 26% 6 16.6% - - - NULL PSD 5662 genome.wustl.edu 37 10 104164699 104164699 + Missense_Mutation SNP G G C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_002779.3 -1 provisional p.F837L 1.000 54 0% 65 33.8% 6 0% possibly_damaging(0.533) tolerated(0.18) neutral(0.236) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like PSD 5662 genome.wustl.edu 37 10 104172186 104172186 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_002779.3 -1 provisional p.R567Q 1.000 113 0% 70 28.6% 0 - possibly_damaging(0.501) tolerated(0.17) neutral(0.227) HMMPfam_Sec7,HMMSmart_SM00222,superfamily_Sec7 domain LOC729020 729020 genome.wustl.edu 37 10 105006072 105006072 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001143909.1 +1 provisional p.D107Y 1.000 437 0% 358 43.9% 2 0% - - - HMMPfam_Ribul_P_3_epim,superfamily_RibP_bind_barrel COL17A1 1308 genome.wustl.edu 37 10 105796265 105796265 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_000494.3 -1 reviewed p.L1135I 0.550 54 0% 73 45.2% 4 100% possibly_damaging(0.839) tolerated(0.49) neutral(0.331) NULL CCDC147 159686 genome.wustl.edu 37 10 106128216 106128216 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001008723.1 +1 validated p.Q276H 1.000 164 0% 271 46.1% 0 - possibly_damaging(0.859) tolerated(0.12) deleterious(0.593) NULL GPAM 57678 genome.wustl.edu 37 10 113932065 113932065 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_020918.4 -1 validated p.P223 1.000 285 0% 407 49.6% 1 100% - - - HMMPfam_Acyltransferase,superfamily_SSF69593 DCLRE1A 9937 genome.wustl.edu 37 10 115609499 115609499 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_014881.3 -1 provisional p.Q455H 0.000 231 0% 219 50.2% 1 100% benign(0.005) tolerated(0.22) neutral(0.042) NULL FAM160B1 57700 genome.wustl.edu 37 10 116606338 116606338 + Silent SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_020940.3 +1 validated p.R473 0.956 188 0% 276 42% 2 100% - - - HMMPfam_RAI16-like FAM204A 63877 genome.wustl.edu 37 10 120095144 120095144 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001134672.1 -1 validated p.E82* 1.000 389 0% 282 19.1% 18 5.5% - - - NULL TIAL1 7073 genome.wustl.edu 37 10 121338333 121338333 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001033925.1 -1 reviewed p.A171V 1.000 211 0% 243 49.8% 26 73% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_RRM_1,HMMSmart_RRM,superfamily_SSF54928 WDR11 55717 genome.wustl.edu 37 10 122668142 122668142 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_018117.11 +1 reviewed p.L1198F 0.755 319 0% 324 47.8% 37 83.7% benign(0) tolerated(0.65) neutral(0.003) NULL C10orf120 399814 genome.wustl.edu 37 10 124457438 124457438 + Silent SNP T T C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001010912.1 -1 predicted p.E273 0.002 462 0% 463 46% 0 - - - - NULL MKI67 4288 genome.wustl.edu 37 10 129904805 129904805 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_002417.4 -1 reviewed p.E1767* 0.000 900 0.2% 855 47.6% 3 0% - - - HMMPfam_K167R MKI67 4288 genome.wustl.edu 37 10 129905984 129905984 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_002417.4 -1 reviewed p.E1374K 0.000 426 0% 428 47.7% 0 - benign(0) tolerated(0.86) neutral(0.001) HMMPfam_K167R STK32C 282974 genome.wustl.edu 37 10 134121143 134121143 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_173575.2 -1 reviewed p.K65N 1.000 3 0.000 9 0.889 1 0% benign(0.044) deleterious(0.02) neutral(0.386) NULL MUC5B 727897 genome.wustl.edu 37 11 1278499 1278499 + Missense_Mutation SNP T T C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_002458.1 +1 validated p.F5426L 0.002 253 0% 201 26.9% 176 46.5% unknown(0) - - HMMSmart_SM00214,HMMSmart_SM00215,superfamily_PMP inhibitors C11orf21 29125 genome.wustl.edu 37 11 2320861 2320861 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001142946.1 -1 predicted p.A121V 0.001 289 0% 298 14.1% 0 - possibly_damaging(0.86) - - NULL NUP98 4928 genome.wustl.edu 37 11 3704669 3704669 + Missense_Mutation SNP A A G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_016320.4 -1 reviewed p.I1560T 0.035 106 0% 122 19.7% 20 50% benign(0) tolerated(0.49) neutral(0.011) NULL NUP98 4928 genome.wustl.edu 37 11 3712617 3712617 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_016320.4 -1 reviewed p.R1472* 0.954 277 0% 258 24% 18 5.5% - - - NULL OR51G2 81282 genome.wustl.edu 37 11 4936381 4936381 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001005238.1 -1 provisional p.F171L 0.108 175 0% 216 25.5% 0 - possibly_damaging(0.8) tolerated(1) neutral(0.301) HMMPfam_7tm_1,superfamily_SSF81321 OR51A4 401666 genome.wustl.edu 37 11 4967856 4967856 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001005329.1 -1 provisional p.L159I 0.002 235 0% 232 11.6% 0 - benign(0.09) tolerated(0.28) neutral(0.038) HMMPfam_7tm_1,superfamily_SSF81321 OR52J3 119679 genome.wustl.edu 37 11 5068358 5068358 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001001916.2 +1 validated p.G201 0.015 674 0% 838 24.1% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR52E2 119678 genome.wustl.edu 37 11 5080340 5080340 + Missense_Mutation SNP T T C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001005164.2 -1 validated p.N173S 0.684 162 0% 322 19.6% 0 - benign(0) tolerated(0.88) - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR52A4 390053 genome.wustl.edu 37 11 5142014 5142014 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001005222.2 -1 validated p.F265L 0.001 106 0% 154 31.2% 0 - unknown(0) tolerated(0.22) - HMMPfam_7tm_1,superfamily_SSF81321 OR52A5 390054 genome.wustl.edu 37 11 5152940 5152940 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001005160.2 -1 validated p.F311L 0.001 195 0% 294 20.1% 0 - benign(0) tolerated(0.67) neutral(0.003) superfamily_SSF81321 OR52L2P 79274 genome.wustl.edu 37 11 6078962 6078962 + Nonsense_Mutation SNP G G A rs187496329 by1000genomes TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000316540 -1 known p.R182* 0.000 102 0% 108 15.7% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like DCHS1 8642 genome.wustl.edu 37 11 6652904 6652906 + In_Frame_Del DEL GTC GTC - novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 GTC GTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_003737.2 -1 reviewed p.D1206in_frame_del 1.000:1.000:1.000 - - - - - - - - - HMMSmart_CA,PatternScan_CADHERIN_1,superfamily_Cadherin SCUBE2 57758 genome.wustl.edu 37 11 9055287 9055287 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_020974.2 -1 validated p.P658S 1.000 176 0% 207 24.6% 1 0% possibly_damaging(0.741) deleterious(0.02) deleterious(0.655) superfamily_Growth factor receptor domain,HMMPfam_GCC2_GCC3 SCUBE2 57758 genome.wustl.edu 37 11 9088342 9088342 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_020974.2 -1 validated p.N221T 1.000 113 0.9% 101 26.7% 1 0% probably_damaging(1) tolerated(0.12) deleterious(0.760) HMMSmart_SM00179,HMMSmart_SM00181,superfamily_EGF/Laminin USP47 55031 genome.wustl.edu 37 11 11941934 11941934 + Missense_Mutation SNP A A G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_017944.3 +1 validated p.K303E 1.000 245 0% 256 21.9% 7 0% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_UCH,superfamily_Cysteine proteinases USP47 55031 genome.wustl.edu 37 11 11951046 11951046 + Nonsense_Mutation SNP T T G rs190706361 by1000genomes TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_017944.3 +1 validated p.Y416* 0.996 521 0% 642 27.9% 4 0% - - - HMMPfam_UCH,PatternScan_UCH_2_2,superfamily_Cysteine proteinases SERGEF 26297 genome.wustl.edu 37 11 17899774 17899774 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_012139.2 -1 validated p.E343 1.000 70 0% 93 23.7% 20 35% benign(0) - - superfamily_RCC1/BLIP-II SAA3P 6290 genome.wustl.edu 37 11 18134173 18134173 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000278207 -1 known p.E119D 0.000 112 0% 110 27.3% 0 - - - - HMMPfam_SAA,HMMSmart_SM00197 TSG101 7251 genome.wustl.edu 37 11 18503371 18503371 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_006292.2 -1 reviewed p.E297* 1.000 353 0% 416 30.5% 47 8.5% - - - NULL UEVLD 55293 genome.wustl.edu 37 11 18591900 18591900 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001040697.1 -1 validated p.R73H 0.874 245 0% 326 23% 3 33.3% probably_damaging(0.996) tolerated(0.13) deleterious(0.714) HMMPfam_UEV,superfamily_UBC-like SPTY2D1 144108 genome.wustl.edu 37 11 18655792 18655792 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_194285.2 -1 validated p.E5* 1.000 204 0.5% 145 27.6% 4 25% - - - NULL PTPN5 84867 genome.wustl.edu 37 11 18751094 18751094 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_006906.1 -1 validated p.G504S 0.997 47 0% 35 22.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II ZDHHC13 54503 genome.wustl.edu 37 11 19180550 19180550 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_019028.2 +1 validated p.F357L 1.000 859 0% 853 23.2% 15 20% benign(0.078) tolerated(0.13) neutral(0.258) NULL E2F8 79733 genome.wustl.edu 37 11 19253831 19253831 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_024680.2 -1 validated p.R339Q 1.000 522 0% 585 24.6% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) "HMMPfam_E2F_TDP,superfamily_""Winged helix"" DNA-binding domain" NAV2 89797 genome.wustl.edu 37 11 19914060 19914060 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_182964.5 +1 validated p.R284Q 0.997 168 0% 247 31.2% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SLC6A5 9152 genome.wustl.edu 37 11 20628617 20628617 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_004211.3 +1 reviewed p.E248D 1.000 244 0% 213 27.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SNF ANO5 203859 genome.wustl.edu 37 11 22283790 22283790 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_213599.2 +1 reviewed p.F582 0.959 413 0% 459 25.1% 0 - - - - NULL SLC5A12 159963 genome.wustl.edu 37 11 26734240 26734240 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_178498.3 -1 validated p.R118L 1.000 340 0% 433 25.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SSF PAX6 5080 genome.wustl.edu 37 11 31822324 31822324 + Silent SNP T T C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001604.4 -1 reviewed p.L160 1.000 388 0% 337 24.6% 1 100% - - - NULL CCDC73 493860 genome.wustl.edu 37 11 32635332 32635332 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001008391.2 -1 validated p.E844D 1.000 214 0% 289 27.7% 0 - probably_damaging(0.973) tolerated(0.53) neutral(0.422) NULL CCDC73 493860 genome.wustl.edu 37 11 32720835 32720835 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001008391.2 -1 validated p.E118* 1.000 746 0% 817 22% 0 - - - - NULL DEPDC7 91614 genome.wustl.edu 37 11 33053039 33053039 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001077242.1 +1 validated p.E300* 0.978 245 0.4% 276 19.9% 1 0% - - - NULL C11orf41 25758 genome.wustl.edu 37 11 33573676 33573676 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_012194.1 +1 validated p.A957 0.001 130 0% 145 24.1% 0 - - - - NULL CAPRIN1 4076 genome.wustl.edu 37 11 34120908 34120908 + Silent SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_005898.4 +1 validated p.V708 1.000 154 0% 164 28% 95 43.1% - - - NULL NAT10 55226 genome.wustl.edu 37 11 34165048 34165048 + Missense_Mutation SNP C C T rs183448235 by1000genomes TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_024662.2 +1 validated p.P981L 1.000 271 0% 322 23.9% 20 15% benign(0) tolerated(0.28) neutral(0.032) NULL DDB2 1643 genome.wustl.edu 37 11 47254483 47254483 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_000107.2 +1 reviewed p.R192Q 0.257 178 0% 236 22.5% 11 27.2% possibly_damaging(0.715) tolerated(0.75) neutral(0.261) HMMSmart_SM00320,superfamily_WD40 repeat-like PSMC3 5702 genome.wustl.edu 37 11 47441877 47441877 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_002804.4 -1 reviewed p.P355 0.009 148 0% 111 30.6% 145 33.7% - - - HMMSmart_SM00382,HMMPfam_AAA,superfamily_P-loop containing nucleoside triphosphate hydrolases NUP160 23279 genome.wustl.edu 37 11 47830029 47830029 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_015231.1 -1 validated p.R765Q 1.000 200 0.5% 313 29.1% 8 12.5% possibly_damaging(0.882) deleterious(0.04) deleterious(0.694) NULL PTPRJ 5795 genome.wustl.edu 37 11 48186036 48186036 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_002843.3 +1 reviewed p.R1275Q 0.999 356 0% 495 22% 7 42.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Y_phosphatase,HMMSmart_PTPc,superfamily_SSF52799 OR4C3 256144 genome.wustl.edu 37 11 48346624 48346624 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001004702.1 +1 provisional p.Q44H 0.001 380 0% 386 22% 0 - possibly_damaging(0.952) deleterious(0.02) deleterious(0.778) superfamily_Family A G protein-coupled receptor-like ENSG00000166007 0 genome.wustl.edu 37 11 55059827 55059827 + Silent SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000309470 -1 known p.V361 0.205 350 0% 374 23.3% 0 - - - - HMMPfam_SPRY LOC440041 440041 genome.wustl.edu 37 11 55062968 55062968 + RNA SNP T T C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 XR_016142.3 -1 model NULL 0.056 248 0% 282 19.5% 0 - - - - - OR4C15 81309 genome.wustl.edu 37 11 55322523 55322523 + Silent SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001001920.1 +1 provisional p.I247 0.000 390 0.3% 352 23.3% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR5I1 10798 genome.wustl.edu 37 11 55703743 55703743 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_006637.1 -1 reviewed p.I45S 0.370 111 0% 152 27.6% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_7tm_1,superfamily_SSF81321 OR8I2 120586 genome.wustl.edu 37 11 55861014 55861014 + Silent SNP A A G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001003750.1 +1 provisional p.V77 0.000 573 0% 687 26.6% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ENSG00000230416 0 genome.wustl.edu 37 11 56216568 56216568 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000415874 +1 known p.R141* 0.015 57 1.8% 48 25% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR5M11 219487 genome.wustl.edu 37 11 56310478 56310478 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001005245.1 -1 provisional p.V86I 0.033 186 0% 273 26.7% 0 - benign(0) tolerated(0.31) neutral(0.027) HMMPfam_7tm_1,superfamily_SSF81321 OR9G1 390174 genome.wustl.edu 37 11 56467944 56467944 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001005213.1 +1 provisional p.F27 0.004 600 0% 621 12.2% 0 - - - - superfamily_SSF81321 OR1S2 219958 genome.wustl.edu 37 11 57970862 57970862 + Missense_Mutation SNP G G T rs182524483 by1000genomes TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001004459.1 -1 validated p.F264L 0.704 381 0% 486 23.5% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_7tm_1,superfamily_SSF81321 OR5B3 441608 genome.wustl.edu 37 11 58169983 58169983 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001005469.1 -1 validated p.K300N 0.001 202 0% 269 29.4% 0 - benign(0.005) deleterious(0.04) neutral(0.349) superfamily_SSF81321 OR5A1 219982 genome.wustl.edu 37 11 59210718 59210718 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001004728.1 +1 provisional p.L26R 0.118 200 0% 216 19.9% 0 - probably_damaging(0.993) deleterious(0) deleterious(0.895) superfamily_SSF81321 OR5A1 219982 genome.wustl.edu 37 11 59211073 59211073 + Silent SNP T T C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001004728.1 +1 provisional p.C144 0.000 325 0% 353 25.5% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 MS4A6A 64231 genome.wustl.edu 37 11 59947402 59947402 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_152852.1 -1 reviewed p.L62V 0.045 169 0% 243 24.3% 49 2% probably_damaging(0.998) deleterious(0.04) deleterious(0.823) HMMPfam_CD20 TMEM109 79073 genome.wustl.edu 37 11 60687365 60687365 + Missense_Mutation SNP C C A rs34267166 TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_024092.2 +1 validated p.A67D 0.991 189 0% 185 31.9% 49 36.7% possibly_damaging(0.911) deleterious(0.03) deleterious(0.728) NULL DDB1 1642 genome.wustl.edu 37 11 61069765 61069765 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001923.3 -1 validated p.K1060T 1.000 397 0% 466 14.4% 173 25.4% benign(0) tolerated(0.1) neutral(0.286) HMMPfam_CPSF_A AHNAK 79026 genome.wustl.edu 37 11 62301207 62301207 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001620.1 -1 validated p.A228T 0.354 139 0% 127 27.6% 16 25% benign(0.221) tolerated(0.54) neutral(0.029) NULL TAF6L 10629 genome.wustl.edu 37 11 62545759 62545759 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_006473.2 +1 reviewed p.H130N 1.000 312 0% 371 25.6% 7 42.8% benign(0) tolerated(0.07) neutral(0.319) NULL SLC22A24 283238 genome.wustl.edu 37 11 62850787 62850787 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001136506.1 -1 validated p.R405C 0.091 225 0% 298 20.5% 0 - probably_damaging(0.961) deleterious(0.02) deleterious(0.787) HMMPfam_MFS_1,superfamily_MFS general substrate transporter CCDC88B 283234 genome.wustl.edu 37 11 64111061 64111061 + Missense_Mutation SNP A A G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_032251.5 +1 reviewed p.E431G 0.996 76 0% 32 31.2% 2 50% probably_damaging(0.99) deleterious(0.04) deleterious(0.790) NULL SNX32 254122 genome.wustl.edu 37 11 65617947 65617947 + Silent SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_152760.2 +1 validated p.V140 1.000 119 0% 125 25.6% 1 0% - - - HMMPfam_PX,superfamily_PX domain SNX32 254122 genome.wustl.edu 37 11 65620383 65620383 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_152760.2 +1 validated p.R371Q 0.998 169 0% 165 19.4% 0 - possibly_damaging(0.781) tolerated(0.25) neutral(0.329) HMMPfam_Vps5 RIN1 9610 genome.wustl.edu 37 11 66099723 66099723 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000424433 -1 known p.F593C 0.000 79 0% 71 25.4% 2 50% unknown(0) - - NULL B3GNT1 11041 genome.wustl.edu 37 11 66114236 66114236 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_006876.2 -1 reviewed p.E261K 1.000 49 0% 29 27.6% 7 14.2% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CCDC87 55231 genome.wustl.edu 37 11 66359633 66359633 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_018219.2 -1 validated p.S285L 0.003 41 0% 38 21.1% 0 - benign(0.378) tolerated(0.13) neutral(0.373) NULL GSTP1 2950 genome.wustl.edu 37 11 67353646 67353646 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000398606 +1 known p.Q136 1.000 129 0% 143 19.6% 2025 45% - - - HMMPfam_GST_C,superfamily_GST_C_like SUV420H1 51111 genome.wustl.edu 37 11 67957520 67957520 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_017635.3 -1 reviewed p.K8N 1.000 516 0% 598 23.4% 11 27.2% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL IGHMBP2 3508 genome.wustl.edu 37 11 68707045 68707045 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_002180.2 +1 reviewed p.R943I 0.999 26 0% 30 26.7% 7 42.8% possibly_damaging(0.873) tolerated(0.14) deleterious(0.589) NULL DEFB108B 245911 genome.wustl.edu 37 11 71548577 71548577 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001002035.1 +1 provisional p.R64I 0.000 130 0% 127 15% 0 - possibly_damaging(0.922) tolerated(0.61) neutral(0.376) NULL KLHL35 283212 genome.wustl.edu 37 11 75139545 75139553 + In_Frame_Del DEL GGGCAGGCT GGGCAGGCT - novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 GGGCAGGCT GGGCAGGCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001039548.2 -1 validated p.SLP114in_frame_del 0.367:1.000:1.000:0.999:1.000:0.976:0.994:1.000:1.000 - - - - - - - - - HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain DGAT2 84649 genome.wustl.edu 37 11 75495695 75495695 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_032564.3 +1 validated p.D52N 1.000 249 0% 209 31.6% 2 50% benign(0.012) tolerated(0.13) neutral(0.253) NULL PRKRIR 5612 genome.wustl.edu 37 11 76062627 76062627 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_004705.2 -1 provisional p.E523K 1.000 54 0% 61 39.3% 3 0% benign(0.081) tolerated(0.56) neutral(0.013) NULL PCF11 51585 genome.wustl.edu 37 11 82880562 82880562 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_015885.3 +1 validated p.R1062I 1.000 255 0% 284 18.7% 5 60% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL DLG2 1740 genome.wustl.edu 37 11 83173066 83173066 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001142699.1 -1 reviewed p.E934* 1.000 613 0% 620 18.1% 1 100% - - - HMMSmart_SM00072,HMMPfam_Gua_kin_assoc_C,superfamily_P-loop containing nucleoside triphosphate hydrolases TRIM64B 642446 genome.wustl.edu 37 11 89607345 89607345 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000329862 -1 known p.E203* 0.001 470 0% 533 10.9% 0 - - - - NULL FAT3 120114 genome.wustl.edu 37 11 92086413 92086413 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001008781.2 +1 validated p.E379* 1.000 335 0% 339 25.4% 0 - - - - superfamily_Cadherin-like FAT3 120114 genome.wustl.edu 37 11 92495255 92495255 + Silent SNP C C T rs150159060 by1000genomes TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001008781.2 +1 validated p.D1301 0.985 163 0% 159 22.6% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like FAT3 120114 genome.wustl.edu 37 11 92498167 92498167 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001008781.2 +1 validated p.F1369L 1.000 432 0% 478 28% 0 - probably_damaging(0.999) deleterious(0.03) deleterious(0.855) HMMPfam_Cadherin,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like FAT3 120114 genome.wustl.edu 37 11 92531781 92531781 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001008781.2 +1 validated p.E1868* 1.000 250 0% 382 22.8% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like FAT3 120114 genome.wustl.edu 37 11 92577669 92577669 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001008781.2 +1 validated p.F3712L 1.000 78 0% 55 20% 0 - probably_damaging(0.992) tolerated(0.56) neutral(0.454) superfamily_Concanavalin A-like lectins/glucanases SLC36A4 120103 genome.wustl.edu 37 11 92918913 92918913 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_152313.2 -1 provisional p.E41 0.997 319 0% 349 32.4% 0 - - - - NULL MRE11A 4361 genome.wustl.edu 37 11 94163104 94163104 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_005591.3 -1 reviewed p.S681 0.045 224 0% 217 25.3% 6 33.3% - - - NULL CCDC82 79780 genome.wustl.edu 37 11 96117829 96117829 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_024725.3 -1 validated p.R28Q 1.000 404 0% 451 20.8% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL MMP20 9313 genome.wustl.edu 37 11 102487592 102487592 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_004771.3 -1 reviewed p.R109C 0.011 292 0% 272 22.8% 0 - probably_damaging(0.978) tolerated(0.17) deleterious(0.479) NULL MMP12 4321 genome.wustl.edu 37 11 102736573 102736573 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000326227 -1 known p.I380S 1.000 230 0% 292 17.8% 1 0% - - - superfamily_Hemopexin-like domain,HMMPfam_Hemopexin,HMMSmart_SM00120 MMP13 4322 genome.wustl.edu 37 11 102826402 102826402 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_002427.3 -1 reviewed p.F11L 0.017 175 0% 176 21% 0 - benign(0) tolerated(1) - NULL DYNC2H1 79659 genome.wustl.edu 37 11 103049836 103049836 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001080463.1 +1 reviewed p.R2074Q 1.000 447 0% 540 24.3% 0 - probably_damaging(0.991) deleterious(0.04) deleterious(0.793) HMMSmart_SM00382,HMMPfam_AAA_5,superfamily_P-loop containing nucleoside triphosphate hydrolases CASP5 838 genome.wustl.edu 37 11 104893891 104893891 + RNA SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NR_024239.1 -1 reviewed NULL 0.000 152 0% 183 15.8% 0 - - - - - GRIA4 2893 genome.wustl.edu 37 11 105769011 105769011 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_000829.3 +1 reviewed p.S248Y 1.000 88 0% 86 30.2% 0 - benign(0.215) tolerated(0.34) neutral(0.044) HMMPfam_ANF_receptor,superfamily_SSF53822 KBTBD3 143879 genome.wustl.edu 37 11 105924350 105924350 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_152433.3 -1 validated p.R356* 0.999 210 0% 240 29.2% 0 - - - - HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain C11orf53 341032 genome.wustl.edu 37 11 111156634 111156634 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_198498.1 +1 predicted p.T189M 0.982 134 0% 172 33.1% 1 0% probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL FDXACB1 91893 genome.wustl.edu 37 11 111746059 111746059 + Missense_Mutation SNP A A G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_138378.1 -1 validated p.S488P 0.987 83 0% 56 25% 1 100% probably_damaging(0.955) deleterious(0.03) deleterious(0.763) NULL CRYAB 1410 genome.wustl.edu 37 11 111781108 111781108 + Silent SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001885.1 -1 reviewed p.L89 1.000 216 0% 288 23.3% 156 41.6% - - - HMMPfam_HSP20,superfamily_HSP20-like chaperones ZBTB16 7704 genome.wustl.edu 37 11 113934981 113934981 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001018011.1 +1 reviewed p.P320L 0.001 51 0% 30 26.7% 0 - benign(0) tolerated(0.43) neutral(0.013) NULL ZBTB16 7704 genome.wustl.edu 37 11 114113010 114113010 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001018011.1 +1 reviewed p.R525 1.000 38 0% 37 43.2% 4 0% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers DSCAML1 57453 genome.wustl.edu 37 11 117301646 117301646 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_020693.2 -1 provisional p.H1886 1.000 217 0% 210 21.9% 1 0% - - - NULL SCN2B 6327 genome.wustl.edu 37 11 118047121 118047121 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_004588.4 -1 validated p.R9H 1.000 325 0% 393 25.7% 0 - probably_damaging(0.97) deleterious(0.04) deleterious(0.761) NULL UBE4A 9354 genome.wustl.edu 37 11 118239407 118239407 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_004788.2 +1 reviewed p.F61 1.000 158 0% 160 28.7% 10 30% - - - NULL BCL9L 283149 genome.wustl.edu 37 11 118770843 118770843 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_182557.2 -1 validated p.G1063 0.995 139 0% 281 23.1% 30 30% - - - NULL CBL 867 genome.wustl.edu 37 11 119146802 119146802 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_005188.2 +1 reviewed p.K322T 1.000 398 0% 475 21.5% 2 50% probably_damaging(0.963) deleterious(0.02) deleterious(0.788) HMMPfam_Cbl_N3,superfamily_SSF55550 USP2 9099 genome.wustl.edu 37 11 119228770 119228770 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_004205.4 -1 validated p.R448Q 1.000 233 0% 269 27.1% 0 - benign(0.131) deleterious(0.04) neutral(0.360) HMMPfam_UCH,superfamily_Cysteine proteinases ARHGEF12 23365 genome.wustl.edu 37 11 120278517 120278517 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_015313.1 +1 reviewed p.D43Y 1.000 286 0% 360 21.9% 5 40% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SORL1 6653 genome.wustl.edu 37 11 121460005 121460005 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_003105.4 +1 reviewed p.F1328 1.000 666 0.3% 1008 25.6% 8 12.5% - - - HMMPfam_Ldl_recept_a,HMMSmart_SM00192,superfamily_LDL receptor-like module VWA5A 4013 genome.wustl.edu 37 11 123988495 123988495 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001130142.1 +1 validated p.F53 1.000 335 0% 360 24.4% 1 0% - - - HMMSmart_SM00609,HMMPfam_VIT VSIG2 23584 genome.wustl.edu 37 11 124620650 124620650 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_014312.3 -1 provisional p.F129L 1.000 235 0% 260 23.8% 43 9.3% probably_damaging(0.987) tolerated(0.62) neutral(0.441) HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin HEPACAM 220296 genome.wustl.edu 37 11 124792339 124792339 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_152722.4 -1 validated p.R298Q 0.835 170 0% 168 27.4% 0 - possibly_damaging(0.892) deleterious(0.03) deleterious(0.716) NULL CCDC15 80071 genome.wustl.edu 37 11 124829873 124829873 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_025004.2 +1 validated p.E164K 0.000 207 0% 231 26.4% 1 0% benign(0.047) tolerated(0.29) neutral(0.032) NULL FLI1 2313 genome.wustl.edu 37 11 128679055 128679055 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_002017.3 +1 validated p.P262L 1.000 227 0% 208 23.6% 11 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL NFRKB 4798 genome.wustl.edu 37 11 129745259 129745259 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_006165.3 -1 validated p.S641N 1.000 215 0% 209 20.1% 5 0% unknown(0) tolerated(0.18) - NULL ACAD8 27034 genome.wustl.edu 37 11 134127029 134127029 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_014384.2 +1 reviewed p.F86 0.998 141 0% 142 23.9% 10 10% unknown(0) - - HMMPfam_Acyl-CoA_dh_N,superfamily_AcylCoA_dehyd_NM GLB1L2 89944 genome.wustl.edu 37 11 134214950 134214950 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_138342.3 +1 validated p.E126K 0.348 236 0% 264 15.9% 2 0% benign(0.006) tolerated(0.34) neutral(0.023) HMMPfam_Glyco_hydro_35,superfamily_Glyco_hydro_cat KDM5A 5927 genome.wustl.edu 37 12 427491 427491 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001042603.1 -1 reviewed p.R893Q 1.000 231 0% 278 25.5% 5 20% benign(0.06) tolerated(0.58) neutral(0.009) HMMPfam_PLU-1 WNK1 65125 genome.wustl.edu 37 12 1005254 1005254 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_018979.3 +1 reviewed p.D1867 1.000 288 0% 270 25.6% 15 40% - - - NULL CACNA1C 775 genome.wustl.edu 37 12 2692013 2692013 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_199460.2 +1 reviewed p.S710L 1.000 304 0% 437 26.8% 1 0% possibly_damaging(0.621) tolerated(0.2) neutral(0.266) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels LOC100288472 100288472 genome.wustl.edu 37 12 2896652 2896652 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 XM_002343142.1 -1 model p.E52* 1.000 26 0% 36 33.3% 0 - - - - NULL TEAD4 7004 genome.wustl.edu 37 12 3131141 3131141 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_003213.2 +1 reviewed p.F285 1.000 262 0% 238 33.2% 11 45.4% - - - HMMPfam_TEA C12orf4 57102 genome.wustl.edu 37 12 4627253 4627253 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_020374.2 -1 predicted p.R335Q 1.000 214 0.5% 260 23.8% 1 0% probably_damaging(0.999) tolerated(0.06) deleterious(0.813) HMMPfam_DUF2362 CHD4 1108 genome.wustl.edu 37 12 6696937 6696937 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001273.2 -1 reviewed p.L1215R 1.000 168 0% 149 28.9% 44 43.1% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_P-loop containing nucleoside triphosphate hydrolases ACRBP 84519 genome.wustl.edu 37 12 6747495 6747495 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_032489.2 -1 reviewed p.R529* 0.208 172 0% 200 24% 0 - - - - NULL A2ML1 144568 genome.wustl.edu 37 12 9010550 9010550 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_144670.3 +1 validated p.A1039V 1.000 181 0% 197 24.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Terpenoid cyclases/Protein prenyltransferases,HMMPfam_A2M_comp A2M 2 genome.wustl.edu 37 12 9246090 9246090 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_000014.4 -1 reviewed p.E737 1.000 305 0% 354 28.5% 271 0% - - - NULL PZP 5858 genome.wustl.edu 37 12 9313050 9313050 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_002864.2 -1 validated p.N970T 0.823 332 0% 364 29.1% 0 - possibly_damaging(0.615) deleterious(0.03) deleterious(0.578) superfamily_Terpenoid cyclases/Protein prenyltransferases,HMMPfam_Thiol-ester_cl TAS2R10 50839 genome.wustl.edu 37 12 10978542 10978542 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_023921.1 -1 reviewed p.K109N 1.000 126 0% 132 36.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TAS2R,superfamily_Family A G protein-coupled receptor-like PRB1 5542 genome.wustl.edu 37 12 11506875 11506875 + Silent SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_199353.2 -1 reviewed p.P54 0.000 343 0% 423 12.5% 0 - - - - NULL GUCY2C 2984 genome.wustl.edu 37 12 14781625 14781625 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_004963.3 -1 validated p.R735I 1.000 589 0% 582 23.2% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase WBP11 51729 genome.wustl.edu 37 12 14954303 14954303 + Silent SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_016312.2 -1 reviewed p.S5 0.719 416 0% 413 26.6% 14 28.5% - - - NULL DERA 51071 genome.wustl.edu 37 12 16185658 16185658 + Missense_Mutation SNP A A G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000437671 +1 known p.N186D 0.003 98 0% 94 31.9% 0 - - - - NULL MGST1 4257 genome.wustl.edu 37 12 16510603 16510603 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_020300.3 +1 reviewed p.R64Q 0.954 207 0% 366 28.7% 23 52.1% benign(0.021) tolerated(0.16) neutral(0.060) HMMPfam_MAPEG PLCZ1 89869 genome.wustl.edu 37 12 18889263 18889263 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_033123.2 -1 provisional p.K9N 0.250 262 0% 237 18.1% 0 - - - - NULL CAPZA3 93661 genome.wustl.edu 37 12 18891248 18891248 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_033328.2 +1 reviewed p.R16C 0.846 127 0% 135 11.9% 0 - benign(0.002) tolerated(0.13) neutral(0.253) HMMPfam_F-actin_cap_A,superfamily_SSF90096 SLCO1C1 53919 genome.wustl.edu 37 12 20885932 20885932 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_017435.4 +1 reviewed p.K426Q 1.000 479 0% 507 29% 0 - possibly_damaging(0.857) tolerated(0.27) neutral(0.365) HMMPfam_OATP,superfamily_MFS_gen_substrate_transporter SLCO1A2 6579 genome.wustl.edu 37 12 21467509 21467509 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_021094.3 -1 reviewed p.K103N 0.002 313 0% 306 25.8% 0 - benign(0.023) tolerated(0.14) neutral(0.251) HMMPfam_OATP,superfamily_MFS general substrate transporter RECQL 5965 genome.wustl.edu 37 12 21623996 21623996 + Silent SNP C C T rs2417989 TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_002907.3 -1 reviewed p.S568 0.542 236 0% 289 26% 34 47% - - - NULL GYS2 2998 genome.wustl.edu 37 12 21689918 21689918 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_021957.3 -1 reviewed p.K694N 1.000 364 0% 410 23.7% 0 - possibly_damaging(0.883) deleterious(0) deleterious(0.789) NULL GYS2 2998 genome.wustl.edu 37 12 21713409 21713409 + Silent SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_021957.3 -1 reviewed p.I360 1.000 322 0% 335 29.9% 0 - - - - HMMPfam_Glycogen_syn ABCC9 10060 genome.wustl.edu 37 12 22089545 22089545 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_005691.2 -1 reviewed p.N22H 1.000 324 0% 491 28.1% 1 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL KIAA0528 9847 genome.wustl.edu 37 12 22606848 22606848 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_014802.1 -1 predicted p.E951D 1.000 285 0% 351 26.2% 7 71.4% benign(0.184) tolerated(1) neutral(0.017) NULL KIAA0528 9847 genome.wustl.edu 37 12 22646269 22646269 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_014802.1 -1 predicted p.E384* 1.000 414 0% 513 27.1% 7 0% - - - NULL KRAS 3845 genome.wustl.edu 37 12 25380276 25380276 + Missense_Mutation SNP T T A rs121913240 byCluster TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_033360.2 -1 reviewed p.Q61L 1.000 270 0% 324 25.9% 8 12.5% benign(0.08) deleterious(0) neutral(0.450) HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases FGFR1OP2 26127 genome.wustl.edu 37 12 27117626 27117626 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_015633.2 +1 validated p.A241V 0.482 356 0% 376 21.5% 12 16.6% benign(0) deleterious(0.02) neutral(0.383) NULL DNM1L 10059 genome.wustl.edu 37 12 32866233 32866233 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_012062.3 +1 reviewed p.A183T 1.000 218 0% 257 22.6% 8 25% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_Dynamin_N,HMMSmart_SM00053,superfamily_P-loop containing nucleoside triphosphate hydrolases KIF21A 55605 genome.wustl.edu 37 12 39763580 39763580 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_017641.3 -1 validated p.K134T 1.000 204 0% 230 28.3% 0 - probably_damaging(0.99) tolerated(0.11) deleterious(0.713) HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases C12orf40 283461 genome.wustl.edu 37 12 40076806 40076806 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001031748.2 +1 validated p.S360 0.000 115 0% 122 35.2% 0 - - - - NULL LRRK2 120892 genome.wustl.edu 37 12 40671787 40671787 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_198578.3 +1 reviewed p.S680Y 0.998 257 0% 299 25.1% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL LRRK2 120892 genome.wustl.edu 37 12 40717010 40717010 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_198578.3 +1 reviewed p.S1853Y 1.000 230 0% 250 26.4% 1 0% possibly_damaging(0.91) deleterious(0.02) deleterious(0.746) superfamily_Kinase_like LRRK2 120892 genome.wustl.edu 37 12 40745482 40745482 + Missense_Mutation SNP G G A rs72547981 TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_198578.3 +1 reviewed p.D2175N 0.058 197 0% 228 28.1% 1 0% benign(0) tolerated(0.38) neutral(0.018) superfamily_WD40_like PPHLN1 51535 genome.wustl.edu 37 12 42729702 42729702 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000395580 +1 known p.E7K 1.000 152 0% 192 24.5% 16 18.7% benign(0.135) tolerated(0.43) neutral(0.025) NULL SCAF11 9169 genome.wustl.edu 37 12 46321128 46321128 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_004719.2 -1 validated p.K786Q 1.000 626 0% 638 24.8% 9 33.3% probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL AMIGO2 347902 genome.wustl.edu 37 12 47471310 47471310 + Silent SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001143668.1 -1 validated p.I492 0.980 240 0% 188 29.8% 21 28.5% - - - NULL ANP32D 23519 genome.wustl.edu 37 12 48866508 48866508 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_012404.2 +1 reviewed p.E21* 1.000 367 0% 434 28.1% 0 - - - - superfamily_SSF52075 CACNB3 784 genome.wustl.edu 37 12 49217513 49217513 + Missense_Mutation SNP T T C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_000725.2 +1 validated p.V73A 0.746 171 0% 170 24.7% 6 16.6% benign(0) tolerated(1) - superfamily_SH3-domain CERS5 91012 genome.wustl.edu 37 12 50531515 50531515 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000380189 -1 known p.E192* 1.000 278 0% 379 25.9% 18 22.2% - - - NULL FAM186A 121006 genome.wustl.edu 37 12 50790182 50790182 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001145475.1 -1 provisional p.P29L 0.001 343 0% 409 22.7% 0 - possibly_damaging(0.901) tolerated(0.48) neutral(0.367) NULL DIP2B 57609 genome.wustl.edu 37 12 51034530 51034530 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_173602.2 +1 validated p.E66* 1.000 230 0% 259 32.8% 0 - - - - HMMPfam_DMAP_binding TFCP2 7024 genome.wustl.edu 37 12 51501076 51501076 + Silent SNP T T C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_005653.4 -1 reviewed p.R257 1.000 707 0% 766 22.1% 14 35.7% - - - HMMPfam_CP2 KRT80 144501 genome.wustl.edu 37 12 52566020 52566020 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_182507.2 -1 reviewed p.I380 0.997 171 0% 177 31.6% 32 46.8% - - - HMMPfam_Filament KRT75 9119 genome.wustl.edu 37 12 52822481 52822481 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_004693.2 -1 reviewed p.R361Q 1.000 507 0% 425 27.8% 1 0% probably_damaging(0.96) deleterious(0.02) deleterious(0.786) superfamily_Prefoldin,HMMPfam_Filament KRT75 9119 genome.wustl.edu 37 12 52827609 52827609 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_004693.2 -1 reviewed p.F160 0.908 419 0% 337 28.2% 0 - - - - HMMPfam_Filament KRT72 140807 genome.wustl.edu 37 12 52981619 52981619 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_080747.2 -1 reviewed p.T369M 0.006 100 0% 88 28.4% 6 16.6% benign(0.052) tolerated(0.06) neutral(0.326) HMMPfam_Filament SP1 6667 genome.wustl.edu 37 12 53776623 53776623 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_138473.2 +1 validated p.P298S 1.000 193 0% 228 31.6% 10 40% possibly_damaging(0.949) tolerated(1) neutral(0.393) NULL AMHR2 269 genome.wustl.edu 37 12 53818087 53818087 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_020547.2 +1 reviewed p.R22Q 1.000 111 0% 107 26.2% 0 - probably_damaging(0.994) tolerated(0.07) deleterious(0.771) superfamily_Snake toxin-like NPFF 8620 genome.wustl.edu 37 12 53900675 53900675 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_003717.2 -1 reviewed p.F76C 1.000 104 0% 83 28.9% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CALCOCO1 57658 genome.wustl.edu 37 12 54117417 54117417 + Missense_Mutation SNP G G C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_020898.2 -1 validated p.S137C 1.000 86 0% 98 29.6% 17 41.1% probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_CALCOCO1 ITGA5 3678 genome.wustl.edu 37 12 54793716 54793716 + Missense_Mutation SNP A A G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_002205.2 -1 reviewed p.S887P 0.001 98 0% 100 10% 28 0% benign(0) tolerated(0.18) neutral(0.056) HMMPfam_Integrin_alpha2,superfamily_SSF69179 NCKAP1L 3071 genome.wustl.edu 37 12 54913059 54913059 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_005337.4 +1 reviewed p.R523Q 0.661 305 0% 283 31.4% 20 0% benign(0) tolerated(0.11) neutral(0.272) HMMPfam_Nckap1 OR6C74 254783 genome.wustl.edu 37 12 55641569 55641569 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001005490.1 +1 provisional p.F166L 0.405 142 0% 149 32.2% 0 - possibly_damaging(0.946) deleterious(0) deleterious(0.835) HMMPfam_7tm_1,superfamily_SSF81321 OR6C3 254786 genome.wustl.edu 37 12 55726167 55726167 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_054104.1 +1 provisional p.A228V 0.001 568 0% 655 29.6% 0 - benign(0.001) tolerated(0.2) neutral(0.049) HMMPfam_7tm_1,superfamily_SSF81321 PHC1P1 653441 genome.wustl.edu 37 12 55808033 55808033 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000326184 -1 known p.R163Q 0.008 229 0.9% 272 33.8% 1 0% - - - NULL MMP19 4327 genome.wustl.edu 37 12 56231644 56231644 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_002429.4 -1 reviewed p.W348L 0.997 187 0% 149 19.5% 4 0% benign(0.059) deleterious(0.03) neutral(0.368) superfamily_Hemopexin-like domain,HMMPfam_Hemopexin,HMMSmart_SM00120 LRP1 4035 genome.wustl.edu 37 12 57586646 57586646 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_002332.2 +1 reviewed p.R2483Q 0.947 55 0% 34 11.8% 9 0% benign(0.012) tolerated(0.54) neutral(0.008) HMMSmart_SM00181,superfamily_EGF/Laminin,superfamily_YWTD domain LRIG3 121227 genome.wustl.edu 37 12 59282733 59282733 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_153377.3 -1 provisional p.R224Q 1.000 299 0% 283 36% 8 37.5% probably_damaging(1) tolerated(0.08) deleterious(0.800) HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00365,superfamily_RNI-like C12orf56 115749 genome.wustl.edu 37 12 64661029 64661029 + Silent SNP T T C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001099676.2 -1 validated p.P441 0.008 205 0% 281 26.3% 9 33.3% - - - NULL GNS 2799 genome.wustl.edu 37 12 65113864 65113864 + Silent SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_002076.3 -1 reviewed p.R506 0.982 535 0% 434 28.8% 16 50% - - - superfamily_Alkaline_phosphatase_core LEMD3 23592 genome.wustl.edu 37 12 65612340 65612340 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_014319.4 +1 reviewed p.E546* 1.000 147 0% 172 30.8% 4 0% - - - NULL IRAK3 11213 genome.wustl.edu 37 12 66638935 66638935 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_007199.2 +1 reviewed p.L403I 0.125 197 0% 161 27.3% 2 0% probably_damaging(0.996) tolerated(0.24) deleterious(0.499) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) IFNG 3458 genome.wustl.edu 37 12 68549155 68549155 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_000619.2 -1 reviewed p.R160Q 0.077 208 0% 181 35.9% 1 0% possibly_damaging(0.886) tolerated(0.22) neutral(0.388) NULL ZFC3H1 196441 genome.wustl.edu 37 12 72027214 72027214 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_144982.4 -1 validated p.L839I 1.000 92 0% 106 30.2% 1 100% probably_damaging(0.999) tolerated(0.05) deleterious(0.836) NULL ZFC3H1 196441 genome.wustl.edu 37 12 72050882 72050882 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_144982.4 -1 validated p.F266 0.062 597 0% 586 24.4% 2 0% - - - NULL TBC1D15 64786 genome.wustl.edu 37 12 72314572 72314572 + Missense_Mutation SNP A A G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_022771.4 +1 reviewed p.E571G 1.000 626 0% 767 15.1% 18 16.6% possibly_damaging(0.892) deleterious(0) deleterious(0.796) HMMPfam_TBC,HMMSmart_SM00164,superfamily_Ypt/Rab-GAP domain of gyp1p NAV3 89795 genome.wustl.edu 37 12 78444889 78444889 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_014903.4 +1 validated p.I826 0.991 43 0% 27 25.9% 0 - - - - NULL PAWR 5074 genome.wustl.edu 37 12 79988129 79988129 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_002583.2 -1 reviewed p.E306* 1.000 594 0% 623 27.6% 16 31.2% - - - NULL MIR617 693202 genome.wustl.edu 37 12 81226313 81226313 + RNA SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000385030 -1 known NULL 0.000 248 0% 265 26.8% 0 - - - - - ACSS3 79611 genome.wustl.edu 37 12 81627192 81627192 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_024560.2 +1 validated p.R554Q 1.000 549 0.2% 681 25.3% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like PPFIA2 8499 genome.wustl.edu 37 12 81688676 81688676 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_003625.2 -1 reviewed p.R955* 1.000 309 0% 407 24.8% 1 0% - - - HMMPfam_SAM_1,HMMSmart_SM00454,superfamily_SAM/Pointed domain LRRIQ1 84125 genome.wustl.edu 37 12 85492145 85492145 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001079910.1 +1 validated p.S967Y 1.000 197 0% 166 21.7% 0 - probably_damaging(0.991) deleterious(0.04) deleterious(0.793) superfamily_RNI-like CEP290 80184 genome.wustl.edu 37 12 88487722 88487722 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_025114.3 -1 reviewed p.K1045T 1.000 156 0% 189 27% 2 50% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL GALNT4 8693 genome.wustl.edu 37 12 89917404 89917404 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_003774.3 -1 reviewed p.T308N 1.000 138 0% 163 24.5% 6 16.6% probably_damaging(0.975) deleterious(0) deleterious(0.861) HMMPfam_Glycos_transf_2,superfamily_Nucleotide-diphospho-sugar transferases DCN 1634 genome.wustl.edu 37 12 91540003 91540003 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001920.3 -1 reviewed p.I304 0.998 230 0% 267 16.1% 217 0% - - - superfamily_L domain-like EEA1 8411 genome.wustl.edu 37 12 93220012 93220012 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_003566.3 -1 validated p.K485T 1.000 678 0% 776 29% 2 50% probably_damaging(0.999) tolerated(0.09) deleterious(0.787) NULL AMDHD1 144193 genome.wustl.edu 37 12 96348697 96348697 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_152435.2 +1 validated p.D85Y 1.000 407 0.7% 548 12.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Composite domain of metallo-dependent hydrolases,superfamily_Metallo-dependent hydrolases TMPO 7112 genome.wustl.edu 37 12 98941365 98941365 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001032283.2 +1 reviewed p.R365K 1.000 202 0% 186 24.7% 11 36.3% probably_damaging(0.973) tolerated(0.25) neutral(0.452) NULL SLC25A3 5250 genome.wustl.edu 37 12 98992403 98992403 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_005888.3 +1 reviewed p.R189Q 1.000 169 0% 163 25.8% 344 36.9% probably_damaging(0.999) deleterious(0.03) deleterious(0.855) superfamily_Mitochondrial carrier,HMMPfam_Mito_carr UHRF1BP1L 23074 genome.wustl.edu 37 12 100489615 100489615 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_015054.1 -1 validated p.L224V 1.000 199 0% 239 27.6% 1 0% benign(0.097) tolerated(0.62) neutral(0.011) NULL SLC5A8 160728 genome.wustl.edu 37 12 101595994 101595994 + Splice_Site SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_145913.3 -1 validated e3-1 1.000 253 0% 337 24% 0 - - - - - GNPTAB 79158 genome.wustl.edu 37 12 102147186 102147186 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_024312.4 -1 reviewed p.R1189Q 1.000 246 0% 363 27.5% 23 26% probably_damaging(1) tolerated(0.06) deleterious(0.823) NULL GNPTAB 79158 genome.wustl.edu 37 12 102161839 102161839 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_024312.4 -1 reviewed p.D462N 1.000 159 0% 254 20.9% 14 14.2% possibly_damaging(0.937) deleterious(0) deleterious(0.828) HMMPfam_Notch,HMMSmart_SM00004,superfamily_Notch domain STAB2 55576 genome.wustl.edu 37 12 104025440 104025440 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_017564.9 +1 reviewed p.Y184* 0.987 260 0% 318 24.8% 0 - - - - HMMPfam_EGF_alliinase,PatternScan_EGF_1 STAB2 55576 genome.wustl.edu 37 12 104134518 104134518 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_017564.9 +1 reviewed p.F1955 0.927 103 0% 80 32.5% 0 - - - - superfamily_Grow_fac_recept NUAK1 9891 genome.wustl.edu 37 12 106461344 106461344 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_014840.2 -1 validated p.E408K 1.000 170 0% 130 25.4% 2 0% benign(0.402) tolerated(0.23) neutral(0.171) NULL WSCD2 9671 genome.wustl.edu 37 12 108634210 108634210 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_014653.2 +1 validated p.D412N 1.000 70 0% 70 35.7% 1 0% benign(0.112) deleterious(0.04) neutral(0.358) superfamily_P-loop containing nucleoside triphosphate hydrolases SVOP 55530 genome.wustl.edu 37 12 109328023 109328023 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_018711.2 -1 validated p.R272W 0.830 143 0% 183 23% 0 - - - - NULL UBE3B 89910 genome.wustl.edu 37 12 109921498 109921498 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_130466.2 +1 reviewed p.R48* 0.009 256 0.4% 269 27.9% 5 60% - - - HMMPfam_IQ,HMMSmart_SM00015 ANKRD13A 88455 genome.wustl.edu 37 12 110474085 110474085 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_033121.1 +1 validated p.S510L 0.984 300 0% 376 25.8% 32 34.3% probably_damaging(0.978) deleterious(0) deleterious(0.865) NULL GPN3 51184 genome.wustl.edu 37 12 110903017 110903017 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_016301.3 -1 validated p.S17 1.000 175 0% 230 31.7% 15 46.6% - - - HMMPfam_ATP_bind_1,superfamily_P-loop containing nucleoside triphosphate hydrolases RAD9B 144715 genome.wustl.edu 37 12 110968446 110968446 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000409300 +1 known p.F414L 0.000 233 0% 229 27.5% 0 - benign(0.067) deleterious(0) neutral(0.449) NULL NAA25 80018 genome.wustl.edu 37 12 112499021 112499021 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_024953.3 -1 reviewed p.E441* 1.000 129 0% 192 32.3% 0 - - - - HMMPfam_NatB_MDM20,superfamily_TPR-like RPL6 6128 genome.wustl.edu 37 12 112843672 112843672 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_000970.3 -1 reviewed p.F233 1.000 405 0% 387 18.3% 797 23.3% - - - HMMPfam_Ribosomal_L6e PTPN11 5781 genome.wustl.edu 37 12 112891102 112891102 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_002834.3 +1 reviewed p.D146Y 1.000 231 0% 315 21.6% 11 9% probably_damaging(0.989) deleterious(0) deleterious(0.884) HMMPfam_SH2,HMMSmart_SM00252,superfamily_SH2 domain TESC 54997 genome.wustl.edu 37 12 117494630 117494630 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_017899.3 -1 validated p.R117C 1.000 215 0% 228 27.2% 27 44.4% probably_damaging(0.982) deleterious(0.02) deleterious(0.809) superfamily_EF-hand CIT 11113 genome.wustl.edu 37 12 120173162 120173162 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_007174.1 -1 validated p.V945I 1.000 338 0% 402 16.9% 1 0% possibly_damaging(0.737) tolerated(0.15) deleterious(0.510) NULL OASL 8638 genome.wustl.edu 37 12 121471448 121471448 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_003733.2 -1 validated p.K99 0.001 96 0% 101 14.9% 4 25% - - - superfamily_Nucleotidyltransferase CLIP1 6249 genome.wustl.edu 37 12 122826046 122826046 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_002956.2 -1 validated p.E558* 0.999 130 0% 133 24.8% 4 0% - - - NULL SBNO1 55206 genome.wustl.edu 37 12 123821020 123821020 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_018183.3 -1 validated p.E223* 1.000 464 0% 521 27.1% 0 - - - - NULL DNAH10 196385 genome.wustl.edu 37 12 124311441 124311441 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_207437.3 +1 validated p.D1345Y 1.000 125 0% 137 30.7% 0 - possibly_damaging(0.816) deleterious(0.02) deleterious(0.692) HMMPfam_DHC_N2 PIWIL1 9271 genome.wustl.edu 37 12 130833930 130833930 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_004764.3 +1 reviewed p.K294T 0.015 308 0% 349 19.8% 0 - benign(0) tolerated(0.46) neutral(0.012) HMMPfam_PAZ,superfamily_PAZ domain GPR133 283383 genome.wustl.edu 37 12 131593322 131593322 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_198827.3 +1 validated p.F647 0.997 292 0% 311 24.1% 0 - - - - HMMPfam_7tm_2 POLE 5426 genome.wustl.edu 37 12 133253184 133253184 + Missense_Mutation SNP G G C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_006231.2 -1 validated p.P286R 1.000 199 0% 222 29.7% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DNA_pol_B_exo,HMMSmart_POLBc,superfamily_RNaseH_fold ZNF268 10795 genome.wustl.edu 37 12 133780328 133780328 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_003415.2 +1 validated p.H686Y 0.987 235 0% 297 13.8% 8 25% probably_damaging(0.977) deleterious(0) deleterious(0.863) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF268 10795 genome.wustl.edu 37 12 133780671 133780671 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_003415.2 +1 validated p.R800I 1.000 142 0% 175 24.6% 3 0% probably_damaging(0.999) tolerated(0.06) deleterious(0.813) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZMYM5 9205 genome.wustl.edu 37 13 20425903 20425903 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001142684.1 -1 validated p.E140K 1.000 279 0% 263 13.7% 9 33.3% possibly_damaging(0.653) deleterious(0) deleterious(0.674) NULL IFT88 8100 genome.wustl.edu 37 13 21212619 21212619 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_175605.3 +1 reviewed p.R521I 1.000 153 0% 155 27.1% 5 40% probably_damaging(0.97) tolerated(0.14) deleterious(0.662) HMMPfam_TPR_1,HMMSmart_SM00671,HMMSmart_SM00028,superfamily_TPR-like SKA3 221150 genome.wustl.edu 37 13 21746536 21746536 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000314759 -1 known p.M91I 0.829 198 0% 250 14.8% 1 0% benign(0.001) tolerated(0.19) neutral(0.050) NULL SACS 26278 genome.wustl.edu 37 13 23910738 23910738 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_014363.4 -1 reviewed p.R2426Q 1.000 226 0% 225 27.6% 0 - probably_damaging(0.999) tolerated(0.34) deleterious(0.513) NULL PABPC3 5042 genome.wustl.edu 37 13 25670397 25670397 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_030979.2 +1 validated p.D21N 1.000 79 0% 90 28.9% 0 - possibly_damaging(0.779) tolerated(0.06) deleterious(0.614) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD HMGB1 3146 genome.wustl.edu 37 13 31037343 31037343 + Splice_Site SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_002128.4 -1 validated e2+1 1.000 393 0.5% 408 29.9% 5 100% - - - - ZAR1L 646799 genome.wustl.edu 37 13 32878056 32878056 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001136571.1 -1 reviewed p.F309C 1.000 263 0% 283 28.3% 0 - possibly_damaging(0.931) deleterious(0) deleterious(0.822) NULL NBEA 26960 genome.wustl.edu 37 13 35622789 35622789 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_015678.4 +1 validated p.I271M 1.000 202 0% 269 23% 0 - probably_damaging(0.999) deleterious(0.03) deleterious(0.855) superfamily_Concanavalin A-like lectins/glucanases,superfamily_ARM repeat NBEA 26960 genome.wustl.edu 37 13 35733260 35733260 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_015678.4 +1 validated p.I984 0.997 156 0% 259 25.5% 1 0% - - - superfamily_ARM repeat DCLK1 9201 genome.wustl.edu 37 13 36699997 36699997 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_004734.3 -1 validated p.R93Q 1.000 147 0% 144 37.5% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DCX,HMMSmart_DCX,superfamily_SSF89837 LOC646879 646879 genome.wustl.edu 37 13 37368744 37368744 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 XM_929841.3 +1 model p.N42H 0.980 58 0% 89 20.2% 0 - - - - NULL POSTN 10631 genome.wustl.edu 37 13 38161044 38161044 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_006475.2 -1 validated p.R210* 1.000 187 0% 249 24.9% 7 0% - - - HMMPfam_Fasciclin,HMMSmart_SM00554,superfamily_FAS1 domain FREM2 341640 genome.wustl.edu 37 13 39424215 39424215 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_207361.4 +1 reviewed p.S2140 0.831 253 0% 325 23.7% 1 0% - - - HMMPfam_Calx-beta,HMMSmart_SM00237 KBTBD7 84078 genome.wustl.edu 37 13 41767925 41767925 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_032138.4 -1 provisional p.R157W 1.000 117 0% 142 26.1% 2 0% probably_damaging(1) tolerated(0.16) deleterious(0.559) HMMSmart_SM00225,superfamily_POZ domain,HMMPfam_BTB DGKH 160851 genome.wustl.edu 37 13 42773762 42773762 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_178009.2 +1 reviewed p.K782N 1.000 94 0% 110 20.9% 1 0% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_DAGK_acc,HMMSmart_SM00045 COG3 83548 genome.wustl.edu 37 13 46056515 46056515 + Splice_Site SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_031431.2 +1 reviewed e6-1 1.000 265 0% 285 23.2% 0 - - - - - FAM194B 220081 genome.wustl.edu 37 13 46135536 46135536 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_182542.2 -1 predicted p.R459* 0.000 920 0% 932 24.9% 0 - - - - NULL SETDB2 83852 genome.wustl.edu 37 13 50055245 50055245 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_031915.2 +1 validated p.I395M 0.973 251 0% 334 32.6% 1 0% possibly_damaging(0.801) deleterious(0.03) deleterious(0.666) HMMPfam_SET,HMMSmart_SM00317,superfamily_SET domain SERPINE3 647174 genome.wustl.edu 37 13 51929209 51929209 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001101320.1 +1 validated p.K310N 0.918 290 0% 379 32.2% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_Serpin,HMMSmart_SM00093,superfamily_Serpins WDFY2 115825 genome.wustl.edu 37 13 52332385 52332385 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_052950.3 +1 reviewed p.F374 0.999 274 0.4% 309 25.9% 18 55.5% - - - HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 ATP7B 540 genome.wustl.edu 37 13 52532521 52532521 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_000053.2 -1 reviewed p.V761L 0.867 109 0% 105 26.7% 2 0% probably_damaging(0.968) tolerated(0.89) neutral(0.410) NULL LECT1 11061 genome.wustl.edu 37 13 53298236 53298236 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_007015.2 -1 reviewed p.G122* 1.000 207 0% 259 19.7% 0 - - - - HMMPfam_BRICHOS PCDH17 27253 genome.wustl.edu 37 13 58206695 58206695 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001040429.2 +1 reviewed p.I5 1.000 129 0% 157 18.5% 4 0% - - - NULL PCDH17 27253 genome.wustl.edu 37 13 58207092 58207092 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001040429.2 +1 reviewed p.E138K 0.999 90 0% 111 18% 3 0% benign(0.002) tolerated(0.81) neutral(0.001) HMMPfam_Cadherin,superfamily_Cadherin-like LOC341689 341689 genome.wustl.edu 37 13 59104758 59104758 + RNA SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 XR_017487.3 +1 model NULL 0.372 186 0% 146 30.1% 0 - - - - - PCDH9 5101 genome.wustl.edu 37 13 67800804 67800804 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_203487.2 -1 reviewed p.T590N 1.000 122 0% 126 22.2% 0 - probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_Cadherin,superfamily_Cadherin-like TBC1D4 9882 genome.wustl.edu 37 13 75884108 75884108 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_014832.2 -1 validated p.R855* 1.000 645 0.3% 653 23.3% 3 33.3% - - - NULL TBC1D4 9882 genome.wustl.edu 37 13 75900457 75900457 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_014832.2 -1 validated p.R637* 0.998 251 0% 248 23.8% 2 0% - - - NULL RBM26 64062 genome.wustl.edu 37 13 79951531 79951531 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_022118.3 -1 validated p.D104Y 1.000 442 0% 485 17.3% 3 0% unknown(0) deleterious(0.04) - superfamily_SSF101233 SLITRK1 114798 genome.wustl.edu 37 13 84454715 84454715 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_052910.1 -1 reviewed p.K310Q 1.000 336 0% 278 30.9% 0 - possibly_damaging(0.903) tolerated(0.13) deleterious(0.611) NULL SLITRK1 114798 genome.wustl.edu 37 13 84455347 84455347 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_052910.1 -1 reviewed p.P99L 1.000 139 0% 143 23.1% 0 - possibly_damaging(0.68) tolerated(0.16) neutral(0.302) superfamily_SSF52058 SLITRK6 84189 genome.wustl.edu 37 13 86370073 86370073 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_032229.2 -1 validated p.R191C 1.000 139 0% 167 26.9% 6 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00365,superfamily_L domain-like SLITRK5 26050 genome.wustl.edu 37 13 88328906 88328906 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_015567.1 +1 validated p.I421 0.993 125 0% 124 28.2% 0 - - - - superfamily_L domain-like GPC5 2262 genome.wustl.edu 37 13 92346016 92346016 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_004466.4 +1 reviewed p.E301* 1.000 127 0% 133 15.8% 0 - - - - HMMPfam_Glypican UGGT2 55757 genome.wustl.edu 37 13 96506702 96506702 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_020121.3 -1 validated p.R1346* 0.901 198 0% 206 22.3% 7 28.5% - - - superfamily_Nucleotide-diphospho-sugar transferases DOCK9 23348 genome.wustl.edu 37 13 99489770 99489770 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000357329 -1 known p.S1409Y 0.924 250 0% 341 26.4% 10 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL DOCK9 23348 genome.wustl.edu 37 13 99578104 99578104 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001130049.1 -1 validated p.R136* 1.000 251 0% 284 24.6% 1 100% - - - NULL TM9SF2 9375 genome.wustl.edu 37 13 100172361 100172361 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_004800.1 +1 provisional p.R104I 1.000 276 0% 333 24.9% 28 50% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_EMP70 A2LD1 87769 genome.wustl.edu 37 13 101184603 101184603 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_033110.1 -1 provisional p.F81 0.997 22 0% 21 19% 6 33.3% - - - HMMPfam_AIG2,superfamily_SSF110857 TPP2 7174 genome.wustl.edu 37 13 103292684 103292684 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_003291.2 +1 reviewed p.R660* 1.000 410 0.2% 524 26% 7 14.2% - - - NULL TPP2 7174 genome.wustl.edu 37 13 103326785 103326785 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_003291.2 +1 reviewed p.S1162Y 1.000 190 0% 228 34.2% 13 7.6% benign(0.055) deleterious(0.03) neutral(0.368) NULL METTL21C 196541 genome.wustl.edu 37 13 103338671 103338671 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001010977.1 -1 predicted p.E169* 0.554 266 0% 330 17.9% 0 - - - - HMMPfam_Methyltransf_16,superfamily_SSF53335 METTL21C 196541 genome.wustl.edu 37 13 103339363 103339363 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001010977.1 -1 predicted p.L109F 0.989 152 0% 191 20.9% 1 0% benign(0.056) tolerated(0.14) neutral(0.253) HMMPfam_Methyltransf_16,superfamily_SSF53335 LOC643677 643677 genome.wustl.edu 37 13 103387989 103387989 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 XM_002344085.1 -1 model p.D4868Y 0.001 489 0% 597 22.9% 0 - probably_damaging(0.995) deleterious(0.01) deleterious(0.863) NULL LOC643677 643677 genome.wustl.edu 37 13 103389368 103389368 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 XM_002344085.1 -1 model p.R4408I 0.157 448 0% 462 24.9% 0 - - - - NULL LOC643677 643677 genome.wustl.edu 37 13 103390947 103390947 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 XM_002344085.1 -1 model p.E3963* 0.001 555 0.2% 465 26.2% 0 - - - - NULL LOC643677 643677 genome.wustl.edu 37 13 103393012 103393012 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 XM_002344085.1 -1 model p.E3274D 0.000 341 0% 421 23.5% 0 - - - - NULL LOC643677 643677 genome.wustl.edu 37 13 103394542 103394542 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 XM_002344085.1 -1 model p.Q2764H 0.001 445 0% 496 24.2% 0 - - - - NULL LOC643677 643677 genome.wustl.edu 37 13 103395955 103395955 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 XM_002344085.1 -1 model p.F2293L 0.000 374 0% 345 28.1% 0 - - - - NULL LOC643677 643677 genome.wustl.edu 37 13 103398571 103398571 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 XM_002344085.1 -1 model p.I1421 0.000 108 0% 92 37% 0 - - - - NULL ARGLU1 55082 genome.wustl.edu 37 13 107209431 107209431 + Missense_Mutation SNP T T C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_018011.3 -1 validated p.N208D 1.000 704 0% 800 20.4% 58 32.7% possibly_damaging(0.615) deleterious(0.02) deleterious(0.597) NULL CARKD 55739 genome.wustl.edu 37 13 111274678 111274678 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_018210.2 +1 validated p.Q72H 0.995 565 0% 756 27.4% 11 54.5% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_SSF53613 TUBGCP3 10426 genome.wustl.edu 37 13 113143948 113143948 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_006322.4 -1 provisional p.E838* 1.000 457 0% 573 27.1% 10 40% - - - NULL CUL4A 8451 genome.wustl.edu 37 13 113897449 113897449 + Silent SNP A A G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001008895.1 +1 validated p.R401 1.000 120 0.8% 163 11% 25 28% - - - HMMPfam_Cullin,superfamily_Cullin homology domain,superfamily_Cullin repeat UPF3A 65110 genome.wustl.edu 37 13 115048389 115048389 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_023011.2 +1 reviewed p.F131C 1.000 557 0.2% 536 28.4% 5 20% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Smg4_UPF3,superfamily_RNA-binding domain RBD OR4K2 390431 genome.wustl.edu 37 14 20345112 20345112 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001005501.1 +1 provisional p.S229F 0.938 295 0% 354 15.8% 0 - benign(0.06) deleterious(0.01) neutral(0.410) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR4L1 122742 genome.wustl.edu 37 14 20529137 20529137 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001004717.1 +1 provisional p.F312V 0.096 90 0% 60 21.7% 0 - probably_damaging(0.978) deleterious(0.01) deleterious(0.826) NULL OR4K17 390436 genome.wustl.edu 37 14 20585845 20585845 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001004715.1 +1 provisional p.L94F 0.999 412 0% 342 24.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like RNASE10 338879 genome.wustl.edu 37 14 20978657 20978657 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001012975.1 +1 provisional p.F9L 0.854 212 0% 283 28.3% 1 0% benign(0.005) tolerated(0.39) neutral(0.016) NULL RNASE10 338879 genome.wustl.edu 37 14 20979107 20979107 + Silent SNP T T C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001012975.1 +1 provisional p.C159 0.702 132 0% 131 29.8% 0 - - - - HMMPfam_RnaseA,HMMSmart_SM00092,superfamily_RNase A-like METTL17 64745 genome.wustl.edu 37 14 21462714 21462714 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001029991.1 +1 validated p.S237F 0.989 433 0% 481 27.2% 21 38% probably_damaging(0.992) deleterious(0.05) deleterious(0.793) HMMPfam_Rsm22,superfamily_SSF53335 NDRG2 57447 genome.wustl.edu 37 14 21490305 21490305 + Missense_Mutation SNP T T C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_201535.1 -1 reviewed p.D87G 0.999 284 0% 345 16.8% 92 31.5% possibly_damaging(0.895) deleterious(0.01) deleterious(0.758) HMMPfam_Ndr,superfamily_alpha/beta-Hydrolases NDRG2 57447 genome.wustl.edu 37 14 21490583 21490583 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_201535.1 -1 reviewed p.A64V 1.000 411 0% 439 30.5% 87 49.4% probably_damaging(0.998) tolerated(0.55) deleterious(0.481) HMMPfam_Ndr,superfamily_alpha/beta-Hydrolases MYH6 4624 genome.wustl.edu 37 14 23858687 23858687 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_002471.3 -1 validated p.A1298V 1.000 228 0% 147 24.5% 0 - benign(0.123) tolerated(0.08) neutral(0.310) HMMPfam_Myosin_tail_1,superfamily_Prefoldin EAPP 55837 genome.wustl.edu 37 14 35005336 35005336 + Missense_Mutation SNP T T C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_018453.3 -1 reviewed p.K74E 1.000 352 0% 344 29.9% 18 50% benign(0.357) tolerated(0.17) neutral(0.172) NULL CTAGE5 4253 genome.wustl.edu 37 14 39769117 39769117 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_005930.3 +1 validated p.K241T 1.000 477 0% 633 28.9% 31 48.3% possibly_damaging(0.946) tolerated(0.13) deleterious(0.643) NULL KLHL28 54813 genome.wustl.edu 37 14 45415047 45415047 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_017658.3 -1 validated p.R29C 1.000 129 0% 157 28% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_POZ domain,HMMPfam_BTB ABHD12B 145447 genome.wustl.edu 37 14 51345506 51345506 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000337334 +1 known p.K92 0.758 316 0% 307 20.8% 0 - probably_damaging(0.981) - - NULL TMX1 81542 genome.wustl.edu 37 14 51712152 51712152 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000267434 +1 known p.W14* 0.000 201 0% 216 28.7% 0 - - - - NULL TXNDC16 57544 genome.wustl.edu 37 14 52899100 52899100 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_020784.2 -1 validated p.W800* 0.904 323 0% 422 20.9% 1 0% - - - NULL FERMT2 10979 genome.wustl.edu 37 14 53341999 53341999 + Missense_Mutation SNP T T C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001134999.1 -1 validated p.D347G 1.000 338 0% 348 24.4% 7 0% possibly_damaging(0.595) deleterious(0) deleterious(0.650) HMMPfam_FERM_M,superfamily_FERM_3-hlx,HMMSmart_B41 FERMT2 10979 genome.wustl.edu 37 14 53347987 53347987 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001134999.1 -1 validated p.L243I 1.000 213 0% 220 23.6% 2 0% benign(0.014) tolerated(0.26) neutral(0.035) HMMSmart_B41 DDHD1 80821 genome.wustl.edu 37 14 53558539 53558539 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_030637.2 -1 validated p.K418T 1.000 459 0% 501 26.1% 3 33.3% probably_damaging(1) tolerated(0.27) deleterious(0.533) NULL SAMD4A 23034 genome.wustl.edu 37 14 55241809 55241809 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_015589.4 +1 validated p.R624C 1.000 177 0% 140 20.7% 4 25% probably_damaging(1) deleterious(0) deleterious(0.945) NULL WDHD1 11169 genome.wustl.edu 37 14 55422349 55422349 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_007086.2 -1 reviewed p.E994* 0.992 479 0% 512 12.1% 2 0% - - - superfamily_WD40_like SLC35F4 341880 genome.wustl.edu 37 14 58036618 58036618 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001080455.1 -1 provisional p.L374F 0.999 130 0% 160 31.2% 0 - benign(0.007) tolerated(0.25) neutral(0.037) NULL ARID4A 5926 genome.wustl.edu 37 14 58766575 58766575 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_002892.3 +1 reviewed p.M1I 1.000 243 0% 249 19.7% 6 16.6% benign(0.004) tolerated(0.05) neutral(0.345) NULL GPR135 64582 genome.wustl.edu 37 14 59930654 59930654 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_022571.5 -1 validated p.R431* 0.883 80 0% 50 28% 0 - - - - NULL C14orf39 317761 genome.wustl.edu 37 14 60951601 60951601 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_174978.2 -1 validated p.N35T 0.998 298 0% 322 29.5% 0 - benign(0.051) deleterious(0) neutral(0.448) NULL TRMT5 57570 genome.wustl.edu 37 14 61442713 61442713 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_020810.2 -1 validated p.G308 0.007 176 0% 256 26.2% 4 75% - - - HMMPfam_Met_10,superfamily_SSF53335 TRMT5 57570 genome.wustl.edu 37 14 61442841 61442841 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_020810.2 -1 validated p.R266* 1.000 64 0% 84 29.8% 6 0% - - - HMMPfam_Met_10,superfamily_SSF53335 KCNH5 27133 genome.wustl.edu 37 14 63174694 63174694 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_139318.3 -1 reviewed p.K833N 1.000 479 0% 479 22.3% 0 - possibly_damaging(0.87) deleterious(0.03) deleterious(0.703) NULL ARG2 384 genome.wustl.edu 37 14 68114862 68114862 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001172.3 +1 reviewed p.R274Q 1.000 192 0% 236 23.7% 29 48.2% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Arginase,superfamily_Arginase/deacetylase ACTN1 87 genome.wustl.edu 37 14 69352156 69352156 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001130004.1 -1 reviewed p.I457 0.889 135 0% 109 27.5% 75 21.3% - - - HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_Spectrin MED6 10001 genome.wustl.edu 37 14 71064431 71064431 + Missense_Mutation SNP A A G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_005466.2 -1 validated p.V29A 1.000 145 0% 170 22.4% 5 40% possibly_damaging(0.916) deleterious(0) deleterious(0.811) NULL RGS6 9628 genome.wustl.edu 37 14 72976983 72976983 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_004296.4 +1 validated p.L363I 1.000 151 0% 157 24.8% 1 0% possibly_damaging(0.668) tolerated(0.31) neutral(0.264) HMMPfam_RGS,HMMSmart_SM00315,superfamily_Regulator of G-protein signaling RGS YLPM1 56252 genome.wustl.edu 37 14 75245171 75245171 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_019589.2 +1 validated p.R299* 1.000 185 0% 172 21.5% 4 25% - - - NULL ESRRB 2103 genome.wustl.edu 37 14 76966249 76966249 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000380887 +1 known p.M447R 0.000 164 0% 144 29.9% 0 - benign(0.001) tolerated(0.56) neutral(0.006) NULL VASH1 22846 genome.wustl.edu 37 14 77237557 77237557 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_014909.4 +1 validated p.F141L 1.000 238 0% 191 27.2% 4 0% possibly_damaging(0.942) deleterious(0.05) deleterious(0.732) NULL C14orf166B 145497 genome.wustl.edu 37 14 77304271 77304271 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_194287.2 +1 validated p.F184L 0.810 346 0% 413 30% 1 0% benign(0.001) tolerated(0.36) neutral(0.020) HMMSmart_SM00368,superfamily_RNI-like SNW1 22938 genome.wustl.edu 37 14 78217744 78217744 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_012245.2 -1 reviewed p.S83L 1.000 368 0% 380 26.8% 16 25% probably_damaging(0.995) deleterious(0.01) deleterious(0.863) NULL NRXN3 9369 genome.wustl.edu 37 14 80164138 80164138 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_004796.4 +1 reviewed p.R888Q 1.000 191 0% 185 31.9% 1 0% probably_damaging(0.969) tolerated(0.46) neutral(0.423) NULL SEL1L 6400 genome.wustl.edu 37 14 81943522 81943522 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_005065.4 -1 validated p.R727* 1.000 203 0% 218 26.6% 27 22.2% - - - NULL SPATA7 55812 genome.wustl.edu 37 14 88892857 88892857 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_018418.4 +1 reviewed p.S218 0.013 60 0% 70 38.6% 3 66.6% - - - NULL ZC3H14 79882 genome.wustl.edu 37 14 89038542 89038542 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_024824.4 +1 validated p.S135L 1.000 171 0% 178 23.6% 18 33.3% probably_damaging(0.963) deleterious(0.03) deleterious(0.770) NULL EML5 161436 genome.wustl.edu 37 14 89087152 89087152 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_183387.2 -1 validated p.S1774Y 1.000 406 0% 514 27.2% 0 - probably_damaging(0.989) deleterious(0.01) deleterious(0.845) HMMSmart_SM00320,superfamily_WD40 repeat-like EML5 161436 genome.wustl.edu 37 14 89171223 89171223 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_183387.2 -1 validated p.R678* 0.997 499 0% 553 17.2% 0 - - - - HMMPfam_HELP CATSPERB 79820 genome.wustl.edu 37 14 92139327 92139327 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_024764.2 -1 validated p.L338I 0.000 94 0% 85 14.1% 0 - possibly_damaging(0.653) tolerated(0.28) neutral(0.261) NULL GOLGA5 9950 genome.wustl.edu 37 14 93263973 93263973 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_005113.2 +1 reviewed p.S64* 1.000 243 0% 278 21.6% 15 6.6% - - - NULL GOLGA5 9950 genome.wustl.edu 37 14 93282758 93282758 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_005113.2 +1 reviewed p.E495K 0.995 96 0% 159 27.7% 36 27.7% probably_damaging(1) deleterious(0.02) deleterious(0.883) superfamily_Prefoldin,HMMPfam_Golgin_A5 C14orf142 84520 genome.wustl.edu 37 14 93670072 93670072 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_032490.4 -1 validated p.F88 1.000 799 0.3% 959 25.7% 11 9% benign(0.113) - - NULL PPP4R4 57718 genome.wustl.edu 37 14 94732161 94732161 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_058237.1 +1 reviewed p.R772Q 1.000 226 0% 259 24.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL DICER1 23405 genome.wustl.edu 37 14 95590698 95590698 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_030621.3 -1 reviewed p.R404I 1.000 373 0% 374 21.1% 2 0% probably_damaging(0.996) tolerated(0.08) deleterious(0.762) superfamily_SSF52540 BCL11B 64919 genome.wustl.edu 37 14 99723818 99723818 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_138576.2 -1 reviewed p.E139D 1.000 116 0% 89 24.7% 0 - probably_damaging(0.999) tolerated(0.09) deleterious(0.787) NULL HHIPL1 84439 genome.wustl.edu 37 14 100129234 100129234 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001127258.1 +1 validated p.E508D 1.000 81 0% 48 41.7% 0 - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) superfamily_Soluble quinoprotein glucose dehydrogenase DYNC1H1 1778 genome.wustl.edu 37 14 102452569 102452569 + Silent SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001376.4 +1 reviewed p.L669 0.949 35 0% 66 33.3% 11 0% - - - HMMPfam_DHC_N1 DYNC1H1 1778 genome.wustl.edu 37 14 102472356 102472356 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001376.4 +1 reviewed p.Q1855 1.000 204 0% 214 24.8% 14 28.5% - - - NULL MARK3 4140 genome.wustl.edu 37 14 103918265 103918265 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001128918.1 +1 validated p.F119 1.000 416 0% 485 28.7% 12 33.3% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase ADSSL1 122622 genome.wustl.edu 37 14 105207179 105207179 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_199165.1 +1 validated p.F239L 1.000 199 0% 187 29.9% 0 - benign(0.35) tolerated(0.89) neutral(0.111) HMMPfam_Adenylsucc_synt,HMMSmart_Adenylsucc_synt,superfamily_SSF52540 IGHV3-15 28448 genome.wustl.edu 37 14 106610325 106610325 + Silent SNP A A G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000390603 -1 known p.Y115 1.000 202 0% 195 21% 2 0% - - - HMMSmart_SM00406,HMMPfam_V-set,superfamily_Immunoglobulin C15orf2 23742 genome.wustl.edu 37 15 24922158 24922158 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_018958.2 +1 reviewed p.L382V 0.000 126 0% 93 26.9% 0 - probably_damaging(0.965) - - NULL ATP10A 57194 genome.wustl.edu 37 15 26026297 26026297 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_024490.3 -1 reviewed p.E175K 1.000 267 0% 225 17.3% 0 - benign(0.356) deleterious(0) deleterious(0.557) HMMPfam_E1-E2_ATPase,superfamily_SSF81653 ENSG00000206149 0 genome.wustl.edu 37 15 28886685 28886685 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000382946 +1 known p.R472* 1.000 255 0% 288 6.9% 5 0% - - - NULL RYR3 6263 genome.wustl.edu 37 15 33990188 33990188 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001036.3 +1 validated p.E2080D 1.000 320 0% 489 28.4% 0 - benign(0) - - HMMPfam_RYDR_ITPR RYR3 6263 genome.wustl.edu 37 15 34040438 34040438 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001036.3 +1 validated p.R2705* 1.000 194 0% 193 30.1% 0 - - - - NULL AVEN 57099 genome.wustl.edu 37 15 34295372 34295372 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_020371.2 -1 validated p.E102D 1.000 275 0% 363 27% 4 50% probably_damaging(0.987) tolerated(0.2) deleterious(0.485) NULL GOLGA8A 23015 genome.wustl.edu 37 15 34673684 34673684 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_181077.3 -1 reviewed p.E580D 0.832 202 0% 167 18.6% 14 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL RASGRP1 10125 genome.wustl.edu 37 15 38791059 38791059 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_005739.3 -1 reviewed p.E603 0.990 219 0% 229 20.1% 2 0% - - - NULL EIF2AK4 440275 genome.wustl.edu 37 15 40259920 40259920 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001013703.2 +1 validated p.R465C 1.000 260 0.4% 355 12.7% 7 42.8% benign(0.113) deleterious(0.05) neutral(0.354) HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) PLCB2 5330 genome.wustl.edu 37 15 40585898 40585898 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_004573.2 -1 validated p.R697C 1.000 136 0% 144 24.3% 10 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) CASC5 57082 genome.wustl.edu 37 15 40913841 40913841 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_170589.3 +1 validated p.A486D 0.270 81 0% 89 31.5% 0 - benign(0.013) deleterious(0.01) neutral(0.406) NULL CASC5 57082 genome.wustl.edu 37 15 40914529 40914529 + Silent SNP A A G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_170589.3 +1 validated p.V715 0.077 187 0% 218 25.7% 0 - - - - NULL SPINT1 6692 genome.wustl.edu 37 15 41137175 41137175 + Silent SNP C C A rs190902803 by1000genomes TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_181642.2 +1 reviewed p.L141 0.012 19 0% 30 16.7% 135 6.6% - - - NULL FAM92A1P1 729073 genome.wustl.edu 37 15 41456252 41456252 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000287660 +1 known p.E195K 0.997 329 0% 339 31.9% 3 0% - - - HMMPfam_DUF1208 FAM92A1P1 729073 genome.wustl.edu 37 15 41456333 41456333 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000287660 +1 known p.L222V 0.996 324 0% 340 28.8% 0 - - - - HMMPfam_DUF1208 MGA 23269 genome.wustl.edu 37 15 41988691 41988691 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001080541.2 +1 validated p.R495* 0.974 100 0% 86 31.4% 0 - - - - NULL MGA 23269 genome.wustl.edu 37 15 42021428 42021428 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001080541.2 +1 validated p.R1242* 1.000 311 0% 403 25.6% 2 0% - - - NULL PLA2G4E 123745 genome.wustl.edu 37 15 42279475 42279475 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001080490.1 -1 provisional p.E615* 0.930 195 0% 221 26.2% 0 - - - - HMMSmart_SM00022,superfamily_FabD/lysophospholipase-like LRRC57 255252 genome.wustl.edu 37 15 42837298 42837298 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_153260.2 -1 validated p.R219* 1.000 233 0% 300 20% 14 28.5% - - - NULL STARD9 57519 genome.wustl.edu 37 15 42977570 42977570 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 XM_001129482.3 +1 model p.L1217R 0.000 74 1.4% 89 25.8% 0 - probably_damaging(0.961) - - NULL TP53BP1 7158 genome.wustl.edu 37 15 43771698 43771698 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001141980.1 -1 validated p.E229K 0.667 451 0% 493 17.4% 7 14.2% possibly_damaging(0.611) deleterious(0.02) deleterious(0.595) NULL CTDSPL2 51496 genome.wustl.edu 37 15 44751374 44751374 + Missense_Mutation SNP A A T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_016396.2 +1 validated p.K54N 1.000 132 0% 163 21.5% 4 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL SPG11 80208 genome.wustl.edu 37 15 44921574 44921574 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_025137.3 -1 reviewed p.L583R 1.000 278 0% 289 29.1% 7 42.8% probably_damaging(0.992) deleterious(0) deleterious(0.892) NULL SEMA6D 80031 genome.wustl.edu 37 15 48062819 48062819 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_153618.1 +1 reviewed p.R687* 0.998 159 0% 231 29.9% 0 - - - - NULL C15orf33 196951 genome.wustl.edu 37 15 49833942 49833942 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_152647.2 -1 validated p.S270L 0.993 100 0% 149 35.6% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL SPPL2A 84888 genome.wustl.edu 37 15 51028310 51028310 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_032802.3 -1 reviewed p.R307Q 1.000 233 0% 292 28.8% 36 44.4% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMSmart_SM00730,HMMPfam_Peptidase_A22B MYO5C 55930 genome.wustl.edu 37 15 52517650 52517650 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_018728.2 -1 validated p.K1096T 1.000 583 0% 662 26% 10 60% benign(0.097) tolerated(0.52) neutral(0.016) NULL MYO5A 4644 genome.wustl.edu 37 15 52680085 52680085 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_000259.3 -1 reviewed p.L565I 1.000 294 0% 363 29.5% 0 - probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases RFX7 64864 genome.wustl.edu 37 15 56435040 56435040 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_022841.5 -1 validated p.R113W 1.000 210 0% 289 22.5% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) "HMMPfam_RFX_DNA_binding,superfamily_""Winged helix"" DNA-binding domain" GCOM1 145781 genome.wustl.edu 37 15 58004209 58004209 + Silent SNP T T C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001018090.1 +1 reviewed p.S444 0.000 251 0% 323 26% 17 47% - - - NULL VPS13C 54832 genome.wustl.edu 37 15 62219376 62219376 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_020821.1 -1 validated p.E2144K 0.275 187 0% 175 28.6% 4 25% benign(0.001) tolerated(0.99) - NULL CILP 8483 genome.wustl.edu 37 15 65491253 65491253 + Silent SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_003613.3 -1 reviewed p.I457 0.537 61 0% 57 21.1% 0 - - - - NULL IGDCC3 9543 genome.wustl.edu 37 15 65628259 65628259 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_004884.3 -1 validated p.V149M 0.572 179 0% 212 27.4% 0 - benign(0.001) tolerated(0.13) neutral(0.253) HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin DENND4A 10260 genome.wustl.edu 37 15 66007900 66007900 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001144823.1 -1 validated p.Q623H 0.998 228 0% 273 31.5% 2 50% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_dDENN,HMMSmart_SM00801 ITGA11 22801 genome.wustl.edu 37 15 68642968 68642968 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001004439.1 -1 reviewed p.I349 1.000 256 0% 252 28.6% 6 0% - - - HMMSmart_SM00327,superfamily_vWA-like,superfamily_Integrin alpha N-terminal domain UACA 55075 genome.wustl.edu 37 15 70976721 70976721 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_018003.2 -1 validated p.G223C 1.000 233 0% 266 24.8% 11 36.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK LRRC49 54839 genome.wustl.edu 37 15 71276466 71276466 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_017691.2 +1 validated p.R347* 1.000 182 0% 231 21.6% 2 0% - - - NULL THSD4 79875 genome.wustl.edu 37 15 72020976 72020976 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_024817.2 +1 provisional p.F482L 1.000 328 0% 302 32.1% 5 0% possibly_damaging(0.685) tolerated(0.18) neutral(0.300) HMMPfam_ADAM_spacer1 NR2E3 10002 genome.wustl.edu 37 15 72105731 72105731 + Silent SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_014249.2 +1 reviewed p.V250 1.000 84 0% 75 18.7% 0 - - - - HMMPfam_Hormone_recep,HMMSmart_SM00430,superfamily_Nuclear receptor ligand-binding domain ARIH1 25820 genome.wustl.edu 37 15 72767192 72767192 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_005744.3 +1 validated p.G71D 1.000 13 0% 23 43.5% 0 - unknown(0) tolerated(0.07) - NULL NEO1 4756 genome.wustl.edu 37 15 73408999 73408999 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_002499.3 +1 validated p.K83N 0.995 182 0% 210 31.9% 1 100% benign(0) tolerated(0.58) neutral(0.005) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin NEO1 4756 genome.wustl.edu 37 15 73590698 73590698 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_002499.3 +1 validated p.R1304Q 1.000 127 0% 156 21.2% 17 35.2% possibly_damaging(0.853) tolerated(0.64) neutral(0.332) HMMPfam_Neogenin_C LOC646791 646791 genome.wustl.edu 37 15 75614623 75614623 + RNA SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 XR_017650.3 -1 model NULL 1.000 253 0% 288 16.7% 0 - - - - - LOC646791 646791 genome.wustl.edu 37 15 75614793 75614793 + RNA SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 XR_017650.3 -1 model NULL 0.995 244 0% 284 25.4% 0 - - - - - FBXO22 26263 genome.wustl.edu 37 15 76225210 76225210 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_147188.1 +1 reviewed p.V327I 0.974 529 0.2% 611 25.9% 41 48.7% probably_damaging(0.998) tolerated(0.12) deleterious(0.735) HMMPfam_FIST_C SCAPER 49855 genome.wustl.edu 37 15 77176174 77176174 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000303521 -1 known p.E50* 0.020 504 0% 591 18.4% 0 - - - - NULL SGK269 79834 genome.wustl.edu 37 15 77473414 77473414 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_024776.2 -1 validated p.F285L 1.000 119 0% 98 22.4% 3 0% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL TBC1D2B 23102 genome.wustl.edu 37 15 78316665 78316665 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_144572.1 -1 validated p.E435K 1.000 112 0% 106 21.7% 4 0% probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL AP3B2 8120 genome.wustl.edu 37 15 83332688 83332688 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_004644.3 -1 validated p.K748 1.000 84 0% 76 18.4% 0 - - - - NULL FSD2 123722 genome.wustl.edu 37 15 83455837 83455837 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001007122.2 -1 provisional p.E102D 0.000 139 0% 103 32% 0 - benign(0.001) tolerated(0.55) neutral(0.007) NULL SEC11A 23478 genome.wustl.edu 37 15 85230968 85230968 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_014300.2 -1 provisional p.L67F 1.000 293 0% 409 26.7% 84 26.1% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_LexA/Signal peptidase,HMMPfam_Peptidase_S24 ALPK3 57538 genome.wustl.edu 37 15 85383414 85383414 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_020778.4 +1 validated p.L504 0.747 97 0% 158 20.9% 0 - - - - NULL ALPK3 57538 genome.wustl.edu 37 15 85383932 85383932 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_020778.4 +1 validated p.P676 0.000 48 0% 50 12% 0 - - - - NULL ALPK3 57538 genome.wustl.edu 37 15 85401123 85401123 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_020778.4 +1 validated p.R1254C 0.855 13 0.000 9 0.667 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL ACAN 176 genome.wustl.edu 37 15 89402149 89402149 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_013227.3 +1 reviewed p.F1996 0.000 80 0% 73 23.3% 1 0% - - - NULL ARRDC4 91947 genome.wustl.edu 37 15 98511279 98511279 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_183376.2 +1 validated p.G186 1.000 317 0% 331 30.5% 2 0% - - - superfamily_E set domains CERS3 204219 genome.wustl.edu 37 15 100943010 100943010 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_178842.3 -1 validated p.E354* 0.106 254 0% 338 25.7% 0 - - - - NULL RAB11FIP3 9727 genome.wustl.edu 37 16 570795 570795 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_014700.3 +1 validated p.V743M 0.999 132 0% 133 22.6% 30 43.3% probably_damaging(1) tolerated(0.18) deleterious(0.556) HMMPfam_RBD-FIP CACNA1H 8912 genome.wustl.edu 37 16 1262133 1262133 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_021098.2 +1 reviewed p.R1585H 1.000 160 0% 127 33.1% 3 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL MAPK8IP3 23162 genome.wustl.edu 37 16 1798618 1798618 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_015133.3 +1 reviewed p.I370 0.368 120 0% 105 22.9% 7 57.1% - - - NULL SRRM2 23524 genome.wustl.edu 37 16 2812431 2812431 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_016333.3 +1 validated p.R634 0.965 69 0% 72 25% 40 40% - - - NULL MEFV 4210 genome.wustl.edu 37 16 3304380 3304380 + Missense_Mutation SNP C C T rs104895080 TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_000243.2 -1 reviewed p.E230K 0.001 55 0% 45 35.6% 0 - possibly_damaging(0.807) deleterious(0.02) deleterious(0.687) NULL ZNF597 146434 genome.wustl.edu 37 16 3490834 3490834 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_152457.1 -1 provisional p.E45* 0.021 169 0% 224 30.4% 3 100% - - - HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box TRAP1 10131 genome.wustl.edu 37 16 3725388 3725388 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_016292.2 -1 validated p.T275 0.315 190 0% 188 27.1% 83 46.9% - - - superfamily_ATP_bd_ATPase,HMMPfam_HSP90 CREBBP 1387 genome.wustl.edu 37 16 3778738 3778738 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_004380.2 -1 reviewed p.R2104C 1.000 31 0% 42 28.6% 22 36.3% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Nuc_recept_coact,HMMPfam_Creb_binding ADCY9 115 genome.wustl.edu 37 16 4163982 4163982 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001116.2 -1 reviewed p.V488I 0.982 58 0% 64 28.1% 3 66.6% probably_damaging(0.994) tolerated(0.1) deleterious(0.738) HMMPfam_Guanylate_cyc,HMMSmart_SM00044,superfamily_Adenylyl and guanylyl cyclase catalytic domain GLIS2 84662 genome.wustl.edu 37 16 4383409 4383409 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_032575.2 +1 reviewed p.L78 0.457 39 0% 32 46.9% 6 33.3% - - - NULL UBN1 29855 genome.wustl.edu 37 16 4924648 4924648 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001079514.1 +1 validated p.L746R 1.000 113 0.9% 111 18.9% 8 50% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) NULL USP7 7874 genome.wustl.edu 37 16 8996318 8996318 + Silent SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_003470.2 -1 validated p.R621 1.000 334 0% 367 23.2% 21 47.6% - - - NULL ATF7IP2 80063 genome.wustl.edu 37 16 10565993 10565993 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_024997.2 +1 validated p.S460F 1.000 251 0% 357 30% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL PRM3 58531 genome.wustl.edu 37 16 11367185 11367185 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_021247.1 -1 provisional p.A90T 0.000 50 0% 31 32.3% 0 - benign(0.355) tolerated(0.12) neutral(0.373) NULL GSPT1 2935 genome.wustl.edu 37 16 11979060 11979060 + Missense_Mutation SNP A A G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_002094.3 -1 validated p.L442P 1.000 307 0% 369 24.9% 42 26.1% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Translation proteins,superfamily_P-loop containing nucleoside triphosphate hydrolases CPPED1 55313 genome.wustl.edu 37 16 12875153 12875153 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_018340.2 -1 validated p.E60K 0.999 185 0% 171 26.9% 51 33.3% benign(0.005) tolerated(0.24) neutral(0.037) superfamily_Metallo-dependent phosphatases NOMO3 408050 genome.wustl.edu 37 16 16330822 16330822 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001004067.2 +1 reviewed p.Y77S 1.000 742 0% 994 22.1% 8 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ACSM1 116285 genome.wustl.edu 37 16 20696520 20696520 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_052956.2 -1 validated p.R133Q 0.960 195 0% 191 31.9% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like ACSM3 6296 genome.wustl.edu 37 16 20807743 20807743 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_005622.3 +1 validated p.E536* 1.000 310 0% 405 24.2% 56 28.5% - - - superfamily_Acetyl-CoA synthetase-like ERI2 112479 genome.wustl.edu 37 16 20812539 20812539 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001142725.1 -1 validated p.F149C 1.000 115 0% 164 15.9% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00479,superfamily_Ribonuclease H-like,HMMPfam_Exonuc_X-T DNAH3 55567 genome.wustl.edu 37 16 21123388 21123388 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_017539.1 -1 provisional p.L616V 0.913 211 0% 263 20.9% 0 - probably_damaging(0.999) deleterious(0.05) deleterious(0.836) NULL RBBP6 5930 genome.wustl.edu 37 16 24578822 24578822 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_006910.4 +1 reviewed p.E650* 1.000 185 0% 123 17.1% 2 0% - - - NULL NSMCE1 197370 genome.wustl.edu 37 16 27236549 27236549 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_145080.3 -1 validated p.D244N 0.996 94 0% 87 42.5% 135 28.1% benign(0) tolerated(0.67) neutral(0.003) superfamily_SSF57850 RRN3P2 653390 genome.wustl.edu 37 16 29097584 29097584 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000415221 +1 known p.K194N 1.000 105 0% 113 14.2% 1 0% possibly_damaging(0.815) deleterious(0) deleterious(0.752) NULL ZNF48 197407 genome.wustl.edu 37 16 30409697 30409697 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_152652.1 +1 provisional p.R376C 0.162 46 0% 38 21.1% 7 28.5% probably_damaging(1) tolerated(0.06) deleterious(0.823) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ITGAL 3683 genome.wustl.edu 37 16 30531243 30531243 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_002209.2 +1 reviewed p.I1098 0.029 97 0% 107 22.4% 14 0% - - - NULL RNF40 9810 genome.wustl.edu 37 16 30785346 30785346 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_014771.2 +1 reviewed p.R973W 1.000 78 0% 70 34.3% 40 30% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMSmart_SM00184,HMMPfam_zf-C3HC4,superfamily_RING/U-box ITGAM 3684 genome.wustl.edu 37 16 31284813 31284813 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_000632.3 +1 reviewed p.E278* 0.000 141 0% 172 32.6% 2 0% - - - HMMPfam_VWA,HMMSmart_VWA,superfamily_SSF53300,superfamily_SSF69318 ITGAX 3687 genome.wustl.edu 37 16 31390893 31390893 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_000887.3 +1 reviewed p.E932K 0.043 104 0% 165 26.7% 9 0% benign(0.31) deleterious(0) deleterious(0.541) HMMPfam_Integrin_alpha2 LOC100289574 100289574 genome.wustl.edu 37 16 32192022 32192022 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 XM_002343438.1 -1 model p.E62* 1.000 63 0% 70 17.1% 0 - - - - NULL NETO2 81831 genome.wustl.edu 37 16 47143460 47143460 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_018092.3 -1 reviewed p.R273* 0.997 225 0% 227 24.2% 1 0% - - - HMMSmart_SM00042,superfamily_Spermadhesin CUB domain ENSG00000247487 0 genome.wustl.edu 37 16 48385480 48385480 + RNA SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000501305 -1 known NULL 0.000 100 0% 147 26.5% 0 - - - - - ZNF423 23090 genome.wustl.edu 37 16 49670423 49670423 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_015069.2 -1 reviewed p.D880 0.923 74 0% 55 25.5% 2 50% - - - NULL SNX20 124460 genome.wustl.edu 37 16 50707974 50707974 + Silent SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_182854.2 -1 validated p.I98 0.993 28 0% 28 25% 3 0% - - - HMMPfam_PX,HMMSmart_SM00312,superfamily_PX domain CHD9 80205 genome.wustl.edu 37 16 53190219 53190219 + Missense_Mutation SNP A A G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_025134.4 +1 validated p.Q73R 1.000 216 0% 248 29.4% 0 - possibly_damaging(0.643) deleterious(0) deleterious(0.670) NULL C16orf57 79650 genome.wustl.edu 37 16 58048180 58048180 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_024598.2 +1 validated p.F151L 1.000 297 0% 310 23.9% 30 33.3% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_HVSL CNOT1 23019 genome.wustl.edu 37 16 58572108 58572108 + Missense_Mutation SNP C C T rs185344213 by1000genomes TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_016284.3 -1 validated p.R1733H 1.000 229 0.4% 330 27.9% 20 40% probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL CNOT1 23019 genome.wustl.edu 37 16 58615301 58615301 + Missense_Mutation SNP T T C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_016284.3 -1 validated p.E388G 1.000 320 0% 429 26.3% 16 25% possibly_damaging(0.692) tolerated(0.1) deleterious(0.534) NULL CDH8 1006 genome.wustl.edu 37 16 61761243 61761243 + Missense_Mutation SNP T T C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000394178 -1 known p.H345R 0.000 50 0% 33 18.2% 0 - - - - HMMSmart_CA,superfamily_Cadherin CDH8 1006 genome.wustl.edu 37 16 61891113 61891113 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001796.2 -1 reviewed p.D193N 1.000 200 0% 201 21.9% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin DYNC1LI2 1783 genome.wustl.edu 37 16 66761704 66761704 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_006141.2 -1 validated p.S383F 1.000 141 0% 168 28% 20 40% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_DLIC CCDC79 283847 genome.wustl.edu 37 16 66803886 66803886 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001136505.1 -1 provisional p.K533N 0.011 210 0% 269 25.3% 0 - benign(0) deleterious(0) neutral(0.445) NULL C16orf70 80262 genome.wustl.edu 37 16 67166366 67166366 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_025187.3 +1 provisional p.S98Y 1.000 167 0% 191 17.8% 5 40% probably_damaging(0.975) deleterious(0.01) deleterious(0.823) HMMPfam_UPF0183 KCTD19 146212 genome.wustl.edu 37 16 67338376 67338376 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001100915.1 -1 provisional p.W133* 1.000 324 0% 333 24.3% 0 - - - - NULL LCAT 3931 genome.wustl.edu 37 16 67974285 67974285 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_000229.1 -1 reviewed p.A282V 0.000 169 0% 167 25.7% 5 20% benign(0) tolerated(0.51) neutral(0.009) HMMPfam_LACT,superfamily_alpha/beta-Hydrolases SLC12A4 6560 genome.wustl.edu 37 16 67985134 67985134 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_005072.4 -1 validated p.P402 0.000 133 0% 129 17.8% 17 17.6% - - - HMMPfam_AA_permease TAT 6898 genome.wustl.edu 37 16 71602173 71602173 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_000353.2 -1 reviewed p.P413 0.865 55 0% 51 25.5% 0 - - - - HMMPfam_Aminotran_1_2,superfamily_PLP-dependent transferases PKD1L3 342372 genome.wustl.edu 37 16 72007285 72007285 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000335106 -1 known p.A631T 0.073 122 0% 107 37.4% 0 - - - - HMMPfam_GPS,HMMSmart_SM00303 CNTNAP4 85445 genome.wustl.edu 37 16 76486528 76486528 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_138994.3 +1 validated p.R326* 1.000 320 0% 254 26.8% 0 - - - - HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 ADAMTS18 170692 genome.wustl.edu 37 16 77356315 77356315 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_199355.2 -1 reviewed p.F694C 1.000 424 0% 475 27.2% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL PKD1L2 114780 genome.wustl.edu 37 16 81213293 81213293 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001076780.1 -1 reviewed p.S739 0.027 186 0% 254 29.9% 0 - - - - NULL SLC38A8 146167 genome.wustl.edu 37 16 84046654 84046654 + Missense_Mutation SNP A A G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001080442.1 -1 provisional p.L389S 1.000 117 0% 144 24.3% 0 - probably_damaging(0.986) deleterious(0) deleterious(0.879) HMMPfam_Aa_trans USP10 9100 genome.wustl.edu 37 16 84773960 84773960 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_005153.2 +1 reviewed p.D46N 0.264 353 0% 416 23.3% 3 0% benign(0) tolerated(0.55) neutral(0.007) NULL USP10 9100 genome.wustl.edu 37 16 84801873 84801873 + Missense_Mutation SNP A A G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_005153.2 +1 reviewed p.Q636R 1.000 172 0% 211 29.4% 29 44.8% probably_damaging(0.999) tolerated(0.08) deleterious(0.790) HMMPfam_UCH,superfamily_SSF54001 IRF8 3394 genome.wustl.edu 37 16 85942746 85942746 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_002163.2 +1 reviewed p.V109I 1.000 122 0% 122 23% 8 0% probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_IRF,HMMSmart_IRF,superfamily_SSF46785 KLHDC4 54758 genome.wustl.edu 37 16 87799428 87799428 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_017566.3 -1 validated p.K23N 1.000 166 0% 168 22.6% 6 16.6% benign(0.038) - - NULL CBFA2T3 863 genome.wustl.edu 37 16 88964558 88964558 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_005187.4 -1 reviewed p.R103* 0.998 243 0% 239 24.7% 1 0% - - - NULL ABR 29 genome.wustl.edu 37 17 994977 994977 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_021962.2 -1 reviewed p.F153L 1.000 242 0% 219 40.6% 9 55.5% possibly_damaging(0.596) deleterious(0) deleterious(0.650) HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) OR1A2 26189 genome.wustl.edu 37 17 3101421 3101421 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_012352.1 +1 provisional p.V203 0.000 160 0% 149 41.6% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 TRPV3 162514 genome.wustl.edu 37 17 3431412 3431412 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_145068.2 -1 reviewed p.P470 0.936 51 0% 30 46.7% 0 - - - - NULL TAX1BP3 30851 genome.wustl.edu 37 17 3568057 3568057 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_014604.2 -1 validated p.E25 1.000 179 0% 94 42.6% 82 57.3% - - - HMMPfam_PDZ,superfamily_PDZ domain-like ZFP3 124961 genome.wustl.edu 37 17 4995171 4995171 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_153018.2 +1 validated p.E124 0.000 109 0% 70 28.6% 0 - - - - NULL ZNF594 84622 genome.wustl.edu 37 17 5086692 5086692 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_032530.1 -1 validated p.R287I 0.985 179 0% 117 35.9% 0 - probably_damaging(0.984) deleterious(0.04) deleterious(0.779) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 KIAA0753 9851 genome.wustl.edu 37 17 6531826 6531826 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_014804.2 -1 validated p.R110Q 1.000 252 0% 207 36.7% 1 0% possibly_damaging(0.92) deleterious(0) deleterious(0.816) NULL CLEC10A 10462 genome.wustl.edu 37 17 6979444 6979444 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_182906.2 -1 reviewed p.T127M 0.000 58 0% 57 33.3% 4 0% probably_damaging(0.979) deleterious(0.05) deleterious(0.767) HMMPfam_Lectin_N NEURL4 84461 genome.wustl.edu 37 17 7219612 7219612 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_032442.2 -1 validated p.A1507T 1.000 67 0% 50 34% 3 66.6% benign(0.309) deleterious(0.01) deleterious(0.502) NULL TP53 7157 genome.wustl.edu 37 17 7577514 7577515 + Frame_Shift_Ins INS - - T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_000546.4 -1 reviewed p.T256fs 0.998:1.000 - - - - - - - - - superfamily_p53-like transcription factors,HMMPfam_P53 TP53 7157 genome.wustl.edu 37 17 7578223 7578223 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_000546.4 -1 reviewed p.R209I 0.000 411 0.2% 269 39% 4 0% benign(0.012) tolerated(0.13) neutral(0.253) superfamily_p53-like transcription factors,HMMPfam_P53 DNAH2 146754 genome.wustl.edu 37 17 7678602 7678602 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_020877.2 +1 validated p.S1588L 1.000 275 0% 227 38.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DHC_N2 CHD3 1107 genome.wustl.edu 37 17 7811726 7811726 + Missense_Mutation SNP A A G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001005271.2 +1 reviewed p.H1779R 1.000 227 0% 185 29.7% 56 60.7% probably_damaging(0.998) - - NULL GAS7 8522 genome.wustl.edu 37 17 9843493 9843493 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_201433.1 -1 reviewed p.A252 0.956 336 0% 361 19.1% 5 0% - - - HMMPfam_FCH,HMMSmart_SM00055 MYH4 4622 genome.wustl.edu 37 17 10348121 10348121 + Silent SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_017533.2 -1 validated p.L1854 1.000 570 0% 463 38.9% 0 - - - - HMMPfam_Myosin_tail_1 MYH2 4620 genome.wustl.edu 37 17 10434982 10434982 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001100112.1 -1 reviewed p.E889* 1.000 486 0% 284 32.4% 0 - - - - NULL SHISA6 388336 genome.wustl.edu 37 17 11166703 11166703 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_207386.3 +1 validated p.R220I 1.000 213 0% 198 29.8% 2 0% benign(0.196) tolerated(0.05) neutral(0.364) NULL MYOCD 93649 genome.wustl.edu 37 17 12655756 12655756 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_153604.2 +1 reviewed p.R384Q 1.000 130 0% 90 33.3% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_SAP,HMMSmart_SM00513,superfamily_SAP domain MYOCD 93649 genome.wustl.edu 37 17 12666670 12666670 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_153604.2 +1 reviewed p.F842L 0.996 149 0% 111 40.5% 1 0% benign(0.001) tolerated(1) - NULL ENSG00000251537 0 genome.wustl.edu 37 17 15517025 15517025 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000455584 -1 known p.A626V 0.711 75 0% 41 26.8% 0 - - - - HMMPfam_F-box,superfamily_F-box domain ZNF286A 57335 genome.wustl.edu 37 17 15619927 15619927 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001130842.1 +1 validated p.L297I 1.000 250 0% 192 40.6% 1 100% possibly_damaging(0.942) tolerated(0.32) neutral(0.411) superfamily_SSF57667 ZNF286A 57335 genome.wustl.edu 37 17 15620327 15620327 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001130842.1 +1 validated p.R430I 1.000 339 0% 274 32.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 CCDC144A 9720 genome.wustl.edu 37 17 16612726 16612726 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_014695.1 +1 provisional p.K452T 0.177 565 0% 514 37% 0 - possibly_damaging(0.931) deleterious(0) deleterious(0.822) NULL FLII 2314 genome.wustl.edu 37 17 18150106 18150106 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_002018.2 -1 reviewed p.K951N 0.329 328 0% 303 15.8% 60 38.3% benign(0.014) tolerated(0.46) neutral(0.013) HMMSmart_GEL,superfamily_SSF55753 FBXW10 10517 genome.wustl.edu 37 17 18675846 18675846 + Missense_Mutation SNP A A G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_031456.3 +1 validated p.N710D 0.227 171 0% 218 35.8% 0 - possibly_damaging(0.496) tolerated(0.33) neutral(0.190) NULL KIAA0100 9703 genome.wustl.edu 37 17 26948070 26948070 + Silent SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_014680.2 -1 validated p.T1726 0.922 349 0% 226 35.8% 32 43.7% - - - HMMPfam_Apt1 ANKRD13B 124930 genome.wustl.edu 37 17 27939150 27939150 + Missense_Mutation SNP T T C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_152345.4 +1 validated p.W373R 1.000 161 0% 80 27.5% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ATAD5 79915 genome.wustl.edu 37 17 29203538 29203538 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_024857.3 +1 provisional p.E1252* 1.000 140 0% 98 34.7% 0 - - - - HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases NF1 4763 genome.wustl.edu 37 17 29661915 29661915 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001042492.2 +1 reviewed p.R1958C 1.000 277 0% 222 27.9% 2 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL CCT6B 10693 genome.wustl.edu 37 17 33269591 33269591 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_006584.2 -1 reviewed p.F266C 1.000 355 0% 310 38.4% 1 100% possibly_damaging(0.935) deleterious(0) deleterious(0.825) HMMPfam_Cpn60_TCP1,superfamily_GroEL equatorial domain-like,superfamily_GroEL apical domain-like,superfamily_GroEL-intermediate domain like SLFN14 342618 genome.wustl.edu 37 17 33875395 33875395 + Missense_Mutation SNP A A T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001129820.1 -1 provisional p.F868I 0.983 180 0% 151 37.7% 0 - probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL TAF15 8148 genome.wustl.edu 37 17 34147348 34147348 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_139215.1 +1 reviewed p.S66F 0.995 269 0% 258 32.2% 46 45.6% unknown(0) deleterious(0.02) - NULL TOP2A 7153 genome.wustl.edu 37 17 38557146 38557146 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001067.2 -1 reviewed p.N874H 1.000 299 0% 265 29.4% 9 77.7% benign(0.053) tolerated(0.12) neutral(0.264) HMMPfam_DNA_topoisoIV,HMMSmart_SM00434,superfamily_Type II DNA topoisomerase KRT20 54474 genome.wustl.edu 37 17 39036927 39036927 + Missense_Mutation SNP A A G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_019010.1 -1 reviewed p.L190S 0.998 397 0% 365 37% 0 - probably_damaging(0.992) deleterious(0) deleterious(0.892) HMMPfam_Filament KLHL11 55175 genome.wustl.edu 37 17 40010785 40010785 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_018143.1 -1 provisional p.S445Y 1.000 154 0% 124 30.6% 0 - benign(0.025) deleterious(0.05) neutral(0.346) HMMPfam_Kelch_1,HMMSmart_Kelch,superfamily_Gal_oxid_central STAT3 6774 genome.wustl.edu 37 17 40476865 40476865 + Splice_Site SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_139276.2 -1 reviewed e16-1 1.000 196 0% 136 20.6% 1 100% - - - - PTRF 284119 genome.wustl.edu 37 17 40574937 40574937 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_012232.5 -1 reviewed p.K60T 1.000 65 0% 27 40.7% 22 18.1% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL BRCA1 672 genome.wustl.edu 37 17 41245616 41245616 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_007294.3 -1 reviewed p.C644W 0.861 193 0% 174 20.1% 0 - benign(0.003) tolerated(0.06) neutral(0.323) NULL CD300LG 146894 genome.wustl.edu 37 17 41931263 41931263 + Silent SNP C C T rs149330626 by1000genomes TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_145273.3 +1 validated p.Y190 0.000 114 0% 98 25.5% 0 - - - - NULL GPATCH8 23131 genome.wustl.edu 37 17 42476032 42476032 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001002909.1 -1 validated p.S1138Y 1.000 154 0% 83 42.2% 3 0% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) NULL ARHGAP27 201176 genome.wustl.edu 37 17 43481984 43481984 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_199282.2 -1 validated p.R97* 0.043 151 0% 121 39.7% 8 62.5% - - - HMMPfam_WW,HMMSmart_SM00456 DLX4 1748 genome.wustl.edu 37 17 48046840 48046840 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_138281.2 +1 reviewed p.S3Y 0.995 29 0% 28 42.9% 0 - possibly_damaging(0.888) deleterious(0) deleterious(0.792) NULL MYCBPAP 84073 genome.wustl.edu 37 17 48603445 48603445 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_032133.4 +1 validated p.N705K 0.000 48 0% 28 50% 0 - benign(0.001) tolerated(0.31) neutral(0.027) NULL RNF43 54894 genome.wustl.edu 37 17 56436128 56436128 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_017763.4 -1 validated p.R337* 0.989 35 0% 38 42.1% 11 90.9% - - - NULL PPM1E 22843 genome.wustl.edu 37 17 57057431 57057431 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_014906.3 +1 reviewed p.G436D 1.000 193 0% 168 36.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00332,superfamily_Protein serine/threonine phosphatase 2C catalytic domain,HMMPfam_PP2C SMG8 55181 genome.wustl.edu 37 17 57290132 57290132 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_018149.6 +1 validated p.F650V 1.000 87 0% 76 39.5% 2 100% probably_damaging(0.99) deleterious(0.01) deleterious(0.847) HMMPfam_DUF2146 GDPD1 284161 genome.wustl.edu 37 17 57334483 57334483 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_182569.3 +1 validated p.A123V 0.976 218 0% 137 29.9% 3 66.6% benign(0.048) deleterious(0.01) neutral(0.409) HMMPfam_GDPD,superfamily_PLC-like phosphodiesterases CLTC 1213 genome.wustl.edu 37 17 57746246 57746246 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_004859.3 +1 reviewed p.R746I 1.000 423 0.2% 368 40.8% 20 65% probably_damaging(0.989) deleterious(0) deleterious(0.884) HMMPfam_Clathrin,HMMSmart_SM00299,superfamily_ARM repeat,superfamily_Protein prenylyltransferase PTRH2 51651 genome.wustl.edu 37 17 57775125 57775125 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_016077.3 -1 validated p.R72Q 1.000 212 0% 202 31.7% 18 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PTH2,superfamily_Peptidyl-tRNA hydrolase II TANC2 26115 genome.wustl.edu 37 17 61499101 61499101 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_025185.3 +1 validated p.Y1920D 1.000 131 0% 80 36.2% 1 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL DCAF7 10238 genome.wustl.edu 37 17 61628172 61628172 + Missense_Mutation SNP A A G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000310827 +1 known p.N45S 1.000 90 0% 62 27.4% 10 40% probably_damaging(0.975) deleterious(0) deleterious(0.861) superfamily_WD40 repeat-like FTSJ3 117246 genome.wustl.edu 37 17 61898986 61898986 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_017647.3 -1 reviewed p.I538 0.629 173 0% 119 43.7% 13 23% - - - NULL CEP112 201134 genome.wustl.edu 37 17 64092437 64092437 + Missense_Mutation SNP T T C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_145036.3 -1 validated p.K234E 0.655 307 0% 286 13.3% 0 - possibly_damaging(0.751) deleterious(0.03) deleterious(0.640) NULL ABCA10 10349 genome.wustl.edu 37 17 67148281 67148281 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_080282.3 -1 reviewed p.D1434N 0.999 545 0% 367 36.5% 0 - benign(0.309) tolerated(0.74) neutral(0.098) superfamily_P-loop containing nucleoside triphosphate hydrolases SDK2 54549 genome.wustl.edu 37 17 71361434 71361434 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001144952.1 -1 provisional p.G1756 1.000 52 0% 36 30.6% 0 - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III SEPT9 10801 genome.wustl.edu 37 17 75494650 75494650 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001113491.1 +1 reviewed p.F557 0.994 33 0% 62 32.3% 92 33.6% - - - HMMPfam_Septin DNAH17 8632 genome.wustl.edu 37 17 76440797 76440797 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000389840 -1 known p.S3792L 0.997 148 0% 102 37.3% 0 - benign(0.024) tolerated(0.43) neutral(0.014) HMMPfam_Dynein_heavy RNF213 57674 genome.wustl.edu 37 17 78305865 78305865 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000508628 +1 known p.D1193Y 0.007 121 0% 91 41.8% 1 0% possibly_damaging(0.951) deleterious(0.01) deleterious(0.800) NULL L3MBTL4 91133 genome.wustl.edu 37 18 6241439 6241439 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_173464.3 -1 validated p.K157T 1.000 167 0% 207 29.5% 2 0% benign(0.008) tolerated(0.26) neutral(0.034) HMMPfam_MBT,superfamily_SSF63748 LAMA1 284217 genome.wustl.edu 37 18 6964761 6964761 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_005559.2 -1 validated p.E2413* 1.000 319 0% 317 24.6% 0 - - - - HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 PTPRM 5797 genome.wustl.edu 37 18 8143749 8143749 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001105244.1 +1 reviewed p.L758I 1.000 490 0% 509 23.8% 5 0% probably_damaging(0.994) tolerated(0.18) deleterious(0.508) NULL ANKRD12 23253 genome.wustl.edu 37 18 9258516 9258516 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_015208.3 +1 validated p.L1751I 0.819 266 0% 336 31% 9 22.2% possibly_damaging(0.485) tolerated(0.29) neutral(0.190) superfamily_Ankyrin repeat TXNDC2 84203 genome.wustl.edu 37 18 9887029 9887029 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001098529.1 +1 validated p.E185* 0.005 395 0% 509 26.5% 1 0% - - - NULL NAPG 8774 genome.wustl.edu 37 18 10540009 10540009 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_003826.2 +1 reviewed p.E131D 0.979 205 0% 255 30.6% 10 70% benign(0.002) tolerated(0.34) neutral(0.023) superfamily_TPR-like CEP192 55125 genome.wustl.edu 37 18 13008504 13008504 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000506447 +1 known p.A114T 0.005 150 0% 146 21.9% 1 0% possibly_damaging(0.46) tolerated(0.07) deleterious(0.470) NULL C18orf1 753 genome.wustl.edu 37 18 13645234 13645234 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_181481.3 +1 validated p.D167Y 0.999 146 0% 124 18.5% 12 16.6% probably_damaging(0.982) deleterious(0.01) deleterious(0.832) NULL ANKRD30B 374860 genome.wustl.edu 37 18 14796363 14796363 + Missense_Mutation SNP T T C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001145029.1 +1 validated p.S626P 0.015 464 0% 545 24% 0 - unknown(0) - - NULL ESCO1 114799 genome.wustl.edu 37 18 19144267 19144267 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_052911.2 -1 validated p.R573Q 0.997 363 0.3% 410 24.4% 6 33.3% benign(0.001) tolerated(0.18) neutral(0.056) NULL CABLES1 91768 genome.wustl.edu 37 18 20837359 20837359 + RNA SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NR_023359.1 +1 validated NULL 0.000 88 0% 79 16.5% 9 22.2% - - - - RIOK3 8780 genome.wustl.edu 37 18 21043000 21043000 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_003831.3 +1 reviewed p.E46* 1.000 329 0% 380 34.5% 9 55.5% - - - NULL LAMA3 3909 genome.wustl.edu 37 18 21501446 21501446 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_198129.1 +1 reviewed p.R2692C 0.000 309 0% 337 22.6% 6 50% possibly_damaging(0.504) deleterious(0) deleterious(0.613) HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 IMPACT 55364 genome.wustl.edu 37 18 22008856 22008856 + Silent SNP A A T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_018439.3 +1 validated p.P63 0.995 360 0% 530 29.8% 11 45.4% - - - HMMPfam_RWD,HMMSmart_SM00591,superfamily_UBC-like CHST9 83539 genome.wustl.edu 37 18 24496869 24496869 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_031422.4 -1 validated p.R229I 1.000 390 0% 468 25.4% 2 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sulfotransfer_2 DSC3 1825 genome.wustl.edu 37 18 28610942 28610942 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001941.3 -1 reviewed p.K117N 0.998 251 0% 283 25.4% 0 - benign(0.222) tolerated(0.49) neutral(0.033) superfamily_Cadherin-like DSG1 1828 genome.wustl.edu 37 18 28934983 28934983 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001942.2 +1 reviewed p.E942K 0.860 205 0% 203 21.2% 0 - possibly_damaging(0.818) tolerated(0.16) neutral(0.368) NULL KLHL14 57565 genome.wustl.edu 37 18 30260208 30260208 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_020805.1 -1 provisional p.M504I 1.000 453 0% 494 25.7% 7 14.2% possibly_damaging(0.612) deleterious(0.01) deleterious(0.618) HMMPfam_Kelch_1,HMMSmart_Kelch,superfamily_Gal_oxid_central ASXL3 80816 genome.wustl.edu 37 18 31325115 31325115 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_030632.1 +1 provisional p.R1768I 0.987 97 0% 77 24.7% 0 - probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL NOL4 8715 genome.wustl.edu 37 18 31673477 31673477 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_003787.3 -1 validated p.L242I 1.000 336 0% 417 29.3% 0 - possibly_damaging(0.882) tolerated(0.2) neutral(0.393) NULL LOXHD1 125336 genome.wustl.edu 37 18 44122784 44122784 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_144612.6 -1 reviewed p.S940 0.411 204 1% 169 20.7% 0 - - - - HMMPfam_PLAT,HMMSmart_LH2,superfamily_Lipase_LipOase SMAD2 4087 genome.wustl.edu 37 18 45375016 45375016 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001003652.2 -1 reviewed p.S276L 1.000 222 0% 203 20.2% 21 23.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MH2,HMMSmart_SM00524,superfamily_SMAD/FHA domain DYM 54808 genome.wustl.edu 37 18 46570519 46570519 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_017653.3 -1 reviewed p.F639C 1.000 231 0% 182 28.6% 37 37.8% probably_damaging(0.977) deleterious(0) deleterious(0.863) HMMPfam_Dymeclin DCC 1630 genome.wustl.edu 37 18 50734114 50734114 + Silent SNP T T C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_005215.3 +1 reviewed p.L596 0.993 461 0.2% 509 25.5% 0 - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III C18orf54 162681 genome.wustl.edu 37 18 51888227 51888227 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_173529.4 +1 validated p.K166N 0.061 153 0% 201 16.4% 0 - benign(0.002) tolerated(0.5) neutral(0.010) NULL WDR7 23335 genome.wustl.edu 37 18 54424048 54424048 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_015285.2 +1 reviewed p.L742I 1.000 207 0% 205 25.9% 4 25% benign(0.103) tolerated(0.2) neutral(0.057) NULL SERPINB3 6317 genome.wustl.edu 37 18 61324080 61324080 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_006919.2 -1 validated p.I251 0.000 490 0% 551 28.7% 0 - - - - HMMPfam_Serpin,HMMSmart_SM00093,superfamily_Serpins CDH19 28513 genome.wustl.edu 37 18 64218359 64218359 + Silent SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_021153.2 -1 reviewed p.V249 1.000 169 0% 162 28.4% 0 - - - - HMMSmart_CA,PatternScan_CADHERIN_1,superfamily_Cadherin DSEL 92126 genome.wustl.edu 37 18 65181427 65181427 + Missense_Mutation SNP A A G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_032160.2 -1 validated p.V150A 0.996 120 0% 141 35.5% 0 - benign(0) tolerated(0.78) neutral(0.001) NULL CNDP2 55748 genome.wustl.edu 37 18 72180885 72180885 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_018235.2 +1 validated p.D278 0.007 64 0% 65 18.5% 195 43% - - - HMMPfam_Peptidase_M20,HMMPfam_M20_dimer,superfamily_Peptidase_M20_dimer,superfamily_SSF53187 TSHZ1 10194 genome.wustl.edu 37 18 73000272 73000272 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_005786.4 +1 reviewed p.F925L 1.000 206 0% 235 16.6% 15 26.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers TSHZ1 10194 genome.wustl.edu 37 18 73000324 73000324 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_005786.4 +1 reviewed p.H943N 1.000 169 0% 202 16.8% 21 14.2% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers THEG 51298 genome.wustl.edu 37 19 367082 367082 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_016585.3 -1 reviewed p.R299H 0.307 378 0% 391 19.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00705 DOT1L 84444 genome.wustl.edu 37 19 2225435 2225435 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000440640 +1 known p.R1002Q 0.909 216 0% 255 24.7% 6 0% - - - NULL PLIN4 729359 genome.wustl.edu 37 19 4511980 4511980 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001080400.1 -1 provisional p.K650N 0.639 327 0% 292 17.8% 0 - probably_damaging(1) tolerated(0.17) deleterious(0.559) NULL FUT6 2528 genome.wustl.edu 37 19 5831808 5831808 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_000150.2 -1 reviewed p.E257D 1.000 274 0% 217 20.3% 13 61.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Glyco_transf_10 EMR1 2015 genome.wustl.edu 37 19 6916286 6916286 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001974.3 +1 reviewed p.E443* 0.033 196 0% 276 28.3% 0 - - - - superfamily_Family A G protein-coupled receptor-like CAMSAP3 57662 genome.wustl.edu 37 19 7676960 7676960 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001080429.2 +1 validated p.S554 0.003 104 0% 96 25% 14 50% - - - NULL CLEC4M 10332 genome.wustl.edu 37 19 7828144 7828144 + RNA SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NR_026707.1 +1 reviewed NULL 0.000 130 0.8% 139 31.7% 0 - - - - - HNRNPM 4670 genome.wustl.edu 37 19 8509930 8509930 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_005968.3 +1 validated p.I16 0.990 45 0% 61 31.1% 37 21.6% - - - NULL MYO1F 4542 genome.wustl.edu 37 19 8595116 8595116 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_012335.3 -1 validated p.F764 0.741 58 0% 52 28.8% 13 0% - - - HMMPfam_Myosin_TH1 ADAMTS10 81794 genome.wustl.edu 37 19 8662189 8662189 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_030957.2 -1 reviewed p.F275V 1.000 211 0% 220 27.3% 1 0% possibly_damaging(0.804) deleterious(0) deleterious(0.747) HMMPfam_Reprolysin,superfamily_SSF55486 MUC16 94025 genome.wustl.edu 37 19 9056817 9056817 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_024690.2 -1 validated p.S10210* 0.000 336 0% 462 21.6% 3 33.3% - - - NULL MUC16 94025 genome.wustl.edu 37 19 9057302 9057302 + Silent SNP A A G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_024690.2 -1 validated p.F10048 0.000 209 0% 261 27.6% 3 100% - - - NULL MUC16 94025 genome.wustl.edu 37 19 9070449 9070449 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_024690.2 -1 validated p.S5666Y 0.051 523 0% 646 25.4% 1 0% unknown(0) - - NULL OR7G3 390883 genome.wustl.edu 37 19 9237199 9237199 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001001958.1 -1 provisional p.L143R 0.000 74 0% 95 29.5% 0 - possibly_damaging(0.927) deleterious(0.02) deleterious(0.758) HMMPfam_7tm_1,superfamily_SSF81321 ZNF177 7730 genome.wustl.edu 37 19 9492421 9492421 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_003451.2 +1 validated p.R312* 0.028 154 0% 218 26.1% 2 50% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF560 147741 genome.wustl.edu 37 19 9577519 9577519 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_152476.2 -1 validated p.R702C 0.227 207 0% 194 27.3% 0 - benign(0.002) deleterious(0.01) neutral(0.406) superfamily_SSF57667 ICAM3 3385 genome.wustl.edu 37 19 10445044 10445044 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_002162.3 -1 reviewed p.L411F 0.002 215 0% 250 18% 74 17.5% benign(0.008) deleterious(0.02) neutral(0.383) HMMSmart_IG,superfamily_SSF48726 LPPR2 64748 genome.wustl.edu 37 19 11471946 11471946 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_022737.2 +1 validated p.V149M 1.000 43 0% 43 25.6% 15 40% probably_damaging(0.988) tolerated(0.11) deleterious(0.709) HMMPfam_PAP2,HMMSmart_SM00014,superfamily_Acid phosphatase/Vanadium-dependent haloperoxidase ZNF823 55552 genome.wustl.edu 37 19 11833856 11833856 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001080493.2 -1 validated p.D165Y 0.000 455 0% 496 29.6% 1 100% possibly_damaging(0.492) deleterious(0.01) deleterious(0.570) HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF441 126068 genome.wustl.edu 37 19 11892039 11892039 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_152355.2 +1 validated p.K467T 0.040 184 0% 207 28% 0 - benign(0.001) tolerated(0.08) neutral(0.300) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF441 126068 genome.wustl.edu 37 19 11892680 11892680 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_152355.2 +1 validated p.H681N 0.000 154 0% 206 21.8% 2 50% benign(0.001) tolerated(0.33) neutral(0.024) PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF20 7568 genome.wustl.edu 37 19 12243794 12243794 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_021143.2 -1 validated p.V403L 0.503 231 0% 260 18.5% 1 0% benign(0.105) deleterious(0) neutral(0.453) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF709 163051 genome.wustl.edu 37 19 12575681 12575681 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_152601.3 -1 validated p.R352Q 0.000 232 0% 281 24.2% 1 100% probably_damaging(0.962) tolerated(1) neutral(0.405) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF490 57474 genome.wustl.edu 37 19 12691588 12691588 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_020714.2 -1 validated p.R434Q 0.000 251 0% 210 22.9% 0 - probably_damaging(0.995) tolerated(0.66) neutral(0.460) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 PKN1 5585 genome.wustl.edu 37 19 14580222 14580222 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_213560.1 +1 reviewed p.F688 0.993 211 0% 173 31.2% 141 45.3% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase ZNF333 84449 genome.wustl.edu 37 19 14830028 14830028 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_032433.2 +1 validated p.S630N 0.848 189 0% 182 15.9% 2 0% possibly_damaging(0.472) tolerated(0.22) neutral(0.198) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 LOC100289597 100289597 genome.wustl.edu 37 19 15072861 15072861 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 XM_002343628.1 +1 model p.E37K 0.999 74 1.4% 59 22% 0 - - - - NULL SYDE1 85360 genome.wustl.edu 37 19 15222243 15222243 + Silent SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_033025.4 +1 provisional p.V470 1.000 239 0% 189 24.3% 6 0% - - - HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP CYP4F12 66002 genome.wustl.edu 37 19 15794537 15794537 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_023944.2 +1 reviewed p.K294N 0.994 273 0% 205 29.3% 3 33.3% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_p450,superfamily_Cytochrome P450 EPS15L1 58513 genome.wustl.edu 37 19 16496002 16496002 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_021235.1 -1 provisional p.P729S 1.000 130 0% 122 27% 12 58.3% probably_damaging(0.975) tolerated(0.14) deleterious(0.666) NULL CPAMD8 27151 genome.wustl.edu 37 19 17013546 17013546 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_015692.2 -1 validated p.R1580Q 0.206 34 0% 60 21.7% 0 - benign(0.029) tolerated(0.37) neutral(0.021) superfamily_Alpha-macroglobulin receptor domain CPAMD8 27151 genome.wustl.edu 37 19 17100480 17100480 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000443236 -1 known p.S514N 1.000 44 0% 42 19% 0 - - - - HMMPfam_A2M_N_2 ELL 8178 genome.wustl.edu 37 19 18583661 18583661 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_006532.3 -1 validated p.F56C 1.000 182 0% 191 20.4% 12 33.3% possibly_damaging(0.911) - - HMMPfam_ELL COMP 1311 genome.wustl.edu 37 19 18899991 18899991 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_000095.2 -1 reviewed p.A169V 0.997 23 0% 12 41.7% 0 - benign(0) tolerated(0.11) neutral(0.272) HMMSmart_EGF_CA,superfamily_SSF57196 MEF2B 100271849 genome.wustl.edu 37 19 19257942 19257942 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001145785.1 -1 validated p.P148 0.562 33 0% 41 24.4% 10 20% - - - NULL ZNF101 94039 genome.wustl.edu 37 19 19790858 19790858 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_033204.2 +1 provisional p.R354* 0.005 143 0% 210 21% 2 50% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF14 7561 genome.wustl.edu 37 19 19822618 19822618 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_021030.2 -1 reviewed p.R491Q 0.000 168 0% 174 23% 5 80% probably_damaging(0.98) tolerated(1) neutral(0.424) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF737 100129842 genome.wustl.edu 37 19 20727540 20727540 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 XM_002343624.1 -1 model p.F490C 0.160 176 0% 205 16.6% 7 42.8% possibly_damaging(0.898) deleterious(0) deleterious(0.799) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF708 7562 genome.wustl.edu 37 19 21476113 21476113 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_021269.2 -1 validated p.R552I 1.000 133 0% 142 24.6% 2 50% benign(0) tolerated(0.23) neutral(0.042) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF493 284443 genome.wustl.edu 37 19 21606426 21606426 + Missense_Mutation SNP A A C rs187938300 by1000genomes TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001076678.2 +1 validated p.K322T 0.077 58 0% 67 22.4% 0 - unknown(0) tolerated(0.07) - HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF208 7757 genome.wustl.edu 37 19 22155381 22155381 + Missense_Mutation SNP T T C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_007153.3 -1 provisional p.T719A 0.000 201 0% 198 20.2% 0 - benign(0.005) tolerated(0.95) - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF257 113835 genome.wustl.edu 37 19 22271550 22271550 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_033468.2 +1 provisional p.R333Q 0.000 109 0% 109 31.2% 0 - benign(0.049) tolerated(0.53) neutral(0.010) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers LOC100287226 100287226 genome.wustl.edu 37 19 22498307 22498307 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 XM_002343636.1 +1 model p.F563L 0.000 57 0% 63 23.8% 0 - benign(0.15) tolerated(0.65) neutral(0.016) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF98 148198 genome.wustl.edu 37 19 22574440 22574440 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001098626.1 -1 validated p.L533I 0.021 252 0% 250 20.4% 0 - possibly_damaging(0.939) deleterious(0.01) deleterious(0.790) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF98 148198 genome.wustl.edu 37 19 22574760 22574760 + Missense_Mutation SNP C C A rs71357915 TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001098626.1 -1 validated p.R426I 0.998 134 0% 154 28.6% 0 - benign(0) tolerated(0.27) neutral(0.034) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF98 148198 genome.wustl.edu 37 19 22574928 22574928 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001098626.1 -1 validated p.R370I 0.994 110 0% 105 22.9% 0 - benign(0.038) tolerated(0.29) neutral(0.031) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF99 7652 genome.wustl.edu 37 19 22939303 22939303 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001080409.1 -1 provisional p.F956L 0.000 109 0% 138 31.9% 0 - possibly_damaging(0.799) tolerated(0.68) neutral(0.303) HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF728 388523 genome.wustl.edu 37 19 23159392 23159392 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 XM_001726961.1 -1 model p.I249M 0.456 59 0% 59 15.3% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers LOC100131479 100131479 genome.wustl.edu 37 19 23779441 23779441 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 XM_001719802.1 +1 model p.R55I 0.820 38 0% 42 23.8% 0 - - - - superfamily_C2H2 and C2HC zinc fingers ZNF675 171392 genome.wustl.edu 37 19 23836503 23836503 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_138330.2 -1 validated p.L411R 0.002 144 0% 153 21.6% 4 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ENSG00000104777 0 genome.wustl.edu 37 19 24102759 24102759 + RNA SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000300996 -1 known NULL 0.005 172 0% 164 24.4% 1 0% - - - - ZNF726 730087 genome.wustl.edu 37 19 24118156 24118156 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000322487 +1 known p.K699N 0.977 37 0% 52 15.4% 0 - benign(0.003) tolerated(0.09) neutral(0.296) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers TSHZ3 57616 genome.wustl.edu 37 19 31767474 31767474 + Silent SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_020856.2 -1 validated p.V1075 0.063 365 0% 414 20% 3 0% - - - NULL GAPDHS 26330 genome.wustl.edu 37 19 36035884 36035884 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_014364.4 +1 reviewed p.D377A 1.000 165 0% 183 21.3% 0 - benign(0.024) deleterious(0.04) neutral(0.350) HMMPfam_Gp_dh_C,superfamily_SSF55347 NPHS1 4868 genome.wustl.edu 37 19 36322597 36322597 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_004646.3 -1 reviewed p.A1078 0.985 42 0% 34 32.4% 0 - - - - NULL APLP1 333 genome.wustl.edu 37 19 36363476 36363476 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001024807.1 +1 reviewed p.K314N 1.000 234 0% 213 30% 1 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_CAPPD an extracellular domain of amyloid beta A4 protein APLP1 333 genome.wustl.edu 37 19 36364579 36364579 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001024807.1 +1 reviewed p.K340N 1.000 143 0.7% 135 36.3% 4 50% possibly_damaging(0.908) deleterious(0) deleterious(0.806) superfamily_CAPPD an extracellular domain of amyloid beta A4 protein COX7A1 1346 genome.wustl.edu 37 19 36641890 36641890 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000437291 -1 known p.G108E 0.935 157 0% 204 18.1% 8 0% - - - HMMPfam_COX7a,superfamily_Mitochondrial cytochrome c oxidase subunit VIIa ZFP82 284406 genome.wustl.edu 37 19 36883912 36883912 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_133466.2 -1 provisional p.H444N 1.000 216 0% 283 28.3% 2 0% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF382 84911 genome.wustl.edu 37 19 37101604 37101604 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_032825.3 +1 validated p.E64 0.998 231 0% 381 21.8% 0 - - - - HMMSmart_SM00349 ZNF829 374899 genome.wustl.edu 37 19 37383166 37383166 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001037232.3 -1 validated p.R176I 1.000 278 0% 324 31.8% 0 - probably_damaging(0.997) tolerated(0.07) deleterious(0.785) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF527 84503 genome.wustl.edu 37 19 37879916 37879916 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_032453.1 +1 validated p.R322I 0.635 215 0% 293 26.3% 1 0% possibly_damaging(0.895) deleterious(0) deleterious(0.797) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF540 163255 genome.wustl.edu 37 19 38103616 38103616 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_152606.3 +1 validated p.R479C 0.000 222 0% 272 23.9% 0 - benign(0.22) deleterious(0.03) neutral(0.386) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF540 163255 genome.wustl.edu 37 19 38103781 38103781 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_152606.3 +1 validated p.R534C 0.000 223 0% 250 21.2% 2 0% benign(0.187) tolerated(0.21) neutral(0.061) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF781 163115 genome.wustl.edu 37 19 38160221 38160221 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_152605.3 -1 validated p.E277K 0.970 335 0% 367 25.9% 0 - possibly_damaging(0.936) tolerated(0.05) deleterious(0.727) NULL WDR87 83889 genome.wustl.edu 37 19 38376210 38376210 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_031951.3 -1 provisional p.E2662K 0.782 180 0% 166 49.4% 0 - unknown(0) - - NULL WDR87 83889 genome.wustl.edu 37 19 38378002 38378002 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_031951.3 -1 provisional p.E2064D 0.000 157 0% 159 37.1% 0 - possibly_damaging(0.875) - - superfamily_WD40 repeat-like,superfamily_ARM repeat WDR87 83889 genome.wustl.edu 37 19 38379099 38379099 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_031951.3 -1 provisional p.E1699* 0.000 620 0% 626 23.3% 0 - - - - superfamily_WD40 repeat-like,superfamily_ARM repeat RYR1 6261 genome.wustl.edu 37 19 38931462 38931462 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_000540.2 +1 reviewed p.F41 0.998 19 0% 17 47.1% 0 - - - - HMMPfam_Ins145_P3_rec RYR1 6261 genome.wustl.edu 37 19 38934795 38934795 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_000540.2 +1 reviewed p.A144V 1.000 99 0% 69 29% 0 - possibly_damaging(0.907) - - HMMPfam_Ins145_P3_rec,HMMSmart_SM00472 TIMM50 92609 genome.wustl.edu 37 19 39980432 39980432 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001001563.1 +1 validated p.R448H 1.000 134 0% 118 12.7% 54 29.6% probably_damaging(0.999) tolerated(0.07) deleterious(0.809) NULL ENSG00000186838 0 genome.wustl.edu 37 19 40006584 40006584 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000361214 +1 known p.Q244 0.000 12 0% 20 30% 0 - - - - NULL ZNF780B 163131 genome.wustl.edu 37 19 40540723 40540723 + Missense_Mutation SNP A A G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000331800 -1 known p.F97S 0.000 214 0% 248 19% 5 20% - - - NULL SERTAD3 29946 genome.wustl.edu 37 19 40947733 40947733 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_013368.3 -1 reviewed p.G85 0.986 62 0% 37 18.9% 23 43.4% - - - NULL SPTBN4 57731 genome.wustl.edu 37 19 41038579 41038579 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_020971.2 +1 reviewed p.T1332 0.004 71 0% 119 31.1% 0 - - - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat LTBP4 8425 genome.wustl.edu 37 19 41112202 41112202 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000308370 +1 known p.G353E 1.000 43 0% 51 33.3% 7 0% probably_damaging(1) tolerated(0.32) deleterious(0.524) superfamily_Fibril-assoc HNRNPUL1 11100 genome.wustl.edu 37 19 41774192 41774192 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_007040.3 +1 reviewed p.N120 0.992 238 0% 320 26.6% 28 32.1% - - - NULL CEACAM5 1048 genome.wustl.edu 37 19 42219090 42219090 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_004363.2 +1 validated p.D209N 0.984 354 0% 303 23.8% 297 54.5% possibly_damaging(0.701) deleterious(0.02) deleterious(0.635) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin CEACAM3 1084 genome.wustl.edu 37 19 42312866 42312866 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001815.2 +1 reviewed p.G147V 0.001 155 0% 135 25.2% 0 - benign(0.164) deleterious(0.02) neutral(0.398) NULL ARHGEF1 9138 genome.wustl.edu 37 19 42392165 42392165 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_199002.1 +1 reviewed p.F19 0.004 299 0% 334 21.6% 9 0% - - - NULL RABAC1 10567 genome.wustl.edu 37 19 42461083 42461083 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_006423.2 -1 validated p.A158D 1.000 68 0% 42 21.4% 288 34.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PRA1 GRIK5 2901 genome.wustl.edu 37 19 42566696 42566696 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_002088.3 -1 reviewed p.R151Q 1.000 102 2% 110 31.8% 0 - benign(0.329) deleterious(0.04) neutral(0.452) HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I POU2F2 5452 genome.wustl.edu 37 19 42626335 42626335 + Splice_Site SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_002698.2 -1 validated e4-1 1.000 120 0% 239 25.5% 0 - - - - - LIPE 3991 genome.wustl.edu 37 19 42930811 42930811 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_005357.2 -1 reviewed p.G164E 0.000 204 0% 174 28.7% 0 - benign(0) deleterious(0) neutral(0.445) NULL LIPE 3991 genome.wustl.edu 37 19 42931186 42931186 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_005357.2 -1 reviewed p.S39L 0.000 379 0.3% 354 26.8% 0 - possibly_damaging(0.922) deleterious(0) deleterious(0.816) NULL ZNF283 284349 genome.wustl.edu 37 19 44351349 44351349 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_181845.1 +1 validated p.R199I 0.000 73 0% 111 18.9% 2 50% possibly_damaging(0.802) tolerated(0.19) neutral(0.351) superfamily_C2H2 and C2HC zinc fingers ZNF221 7638 genome.wustl.edu 37 19 44470846 44470846 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_013359.2 +1 validated p.E398* 0.002 209 0% 232 22% 1 0% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF222 7673 genome.wustl.edu 37 19 44537137 44537137 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001129996.1 +1 validated p.R477H 0.000 124 0% 144 29.2% 2 50% probably_damaging(1) tolerated(0.12) deleterious(0.760) superfamily_C2H2 and C2HC zinc fingers ZNF225 7768 genome.wustl.edu 37 19 44636760 44636760 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_013362.2 +1 validated p.S665A 0.002 194 0% 255 23.1% 1 0% possibly_damaging(0.721) tolerated(0.22) neutral(0.303) superfamily_C2H2 and C2HC zinc fingers ZNF226 7769 genome.wustl.edu 37 19 44681133 44681133 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001032372.1 +1 validated p.R573Q 0.009 227 0% 305 27.9% 6 66.6% probably_damaging(0.999) tolerated(0.29) deleterious(0.519) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF227 7770 genome.wustl.edu 37 19 44740601 44740601 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_182490.1 +1 provisional p.S673L 0.001 280 0% 326 18.1% 12 16.6% possibly_damaging(0.918) tolerated(0.13) deleterious(0.621) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers SYMPK 8189 genome.wustl.edu 37 19 46327116 46327116 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_004819.2 -1 reviewed p.M836I 1.000 72 0% 74 18.9% 46 19.5% probably_damaging(0.997) tolerated(0.1) deleterious(0.752) superfamily_ARM repeat PGLYRP1 8993 genome.wustl.edu 37 19 46522675 46522675 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_005091.2 -1 validated p.R138W 0.078 187 0.5% 137 28.5% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Amidase_2,HMMSmart_Ami_2,superfamily_Amidase_2,HMMSmart_PGRP PNMAL2 57469 genome.wustl.edu 37 19 46997313 46997313 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_020709.1 -1 validated p.N470 0.000 95 0% 121 23.1% 0 - - - - NULL SLC1A5 6510 genome.wustl.edu 37 19 47278815 47278815 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_005628.2 -1 validated p.G526 0.000 104 0% 92 42.4% 95 54.7% - - - NULL ZC3H4 23211 genome.wustl.edu 37 19 47572584 47572584 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_015168.1 -1 validated p.Y721 1.000 76 1.3% 37 27% 8 50% - - - NULL GLTSCR2 29997 genome.wustl.edu 37 19 48259803 48259803 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_015710.4 +1 validated p.R439* 0.437 66 0% 76 27.6% 321 5.6% - - - HMMPfam_Nop53 PPP1R15A 23645 genome.wustl.edu 37 19 49378882 49378882 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_014330.3 +1 validated p.S559 0.987 32 0% 31 16.1% 44 52.2% - - - HMMPfam_PP1c_bdg SLC6A16 28968 genome.wustl.edu 37 19 49793430 49793430 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_014037.2 -1 validated p.L721I 0.000 228 0% 349 24.9% 0 - possibly_damaging(0.915) deleterious(0.04) deleterious(0.716) NULL SLC17A7 57030 genome.wustl.edu 37 19 49937024 49937024 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_020309.3 -1 reviewed p.D276N 1.000 152 0% 101 23.8% 0 - benign(0.245) tolerated(0.32) neutral(0.049) HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter NAPSA 9476 genome.wustl.edu 37 19 50865026 50865026 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_004851.1 -1 reviewed p.R121Q 0.023 96 0% 114 22.8% 1 0% probably_damaging(0.999) tolerated(0.08) deleterious(0.790) HMMPfam_Asp,superfamily_Pept_Aspartic KLK3 354 genome.wustl.edu 37 19 51362791 51362791 + Silent SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001030047.1 +1 reviewed p.V212 0.002 86 0% 76 34.2% 0 - - - - HMMSmart_SM00020 ZNF175 7728 genome.wustl.edu 37 19 52091385 52091385 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_007147.2 +1 validated p.N601H 0.917 128 0% 155 32.9% 2 0% probably_damaging(0.996) tolerated(0.69) neutral(0.464) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF615 284370 genome.wustl.edu 37 19 52497516 52497516 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_198480.2 -1 provisional p.K271N 0.015 268 0.4% 269 22.7% 3 0% probably_damaging(0.978) tolerated(0.24) neutral(0.458) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF836 162962 genome.wustl.edu 37 19 52659047 52659047 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001102657.1 -1 provisional p.R630I 0.017 164 0% 181 27.6% 2 50% probably_damaging(1) tolerated(0.13) deleterious(0.752) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF808 388558 genome.wustl.edu 37 19 53058177 53058177 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001039886.3 +1 validated p.R670C 0.224 295 0% 332 22.9% 0 - possibly_damaging(0.936) deleterious(0) deleterious(0.826) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF611 81856 genome.wustl.edu 37 19 53210090 53210090 + Missense_Mutation SNP T T C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_030972.3 -1 validated p.E73G 0.000 261 0% 316 27.5% 1 0% probably_damaging(0.967) deleterious(0.01) deleterious(0.815) HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF28 7576 genome.wustl.edu 37 19 53303706 53303706 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_006969.2 -1 validated p.E411D 1.000 349 0% 385 33.2% 4 25% possibly_damaging(0.56) deleterious(0.01) deleterious(0.597) superfamily_SSF57667 ZNF160 90338 genome.wustl.edu 37 19 53572562 53572562 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001102603.1 -1 reviewed p.R409C 0.000 314 0% 331 22.1% 2 50% probably_damaging(0.999) tolerated(0.1) deleterious(0.777) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF677 342926 genome.wustl.edu 37 19 53741551 53741551 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_182609.2 -1 provisional p.F143L 0.019 590 0.2% 719 25.9% 0 - benign(0.004) tolerated(1) - NULL ZNF845 91664 genome.wustl.edu 37 19 53856228 53856228 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_138374.1 +1 validated p.R767I 0.000 241 0% 295 30.2% 0 - possibly_damaging(0.659) tolerated(0.39) neutral(0.248) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF525 170958 genome.wustl.edu 37 19 53879124 53879124 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000474037 +1 known p.E39D 0.836 785 0.3% 883 13.1% 2 0% probably_damaging(0.982) deleterious(0) deleterious(0.871) HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF765 91661 genome.wustl.edu 37 19 53911193 53911193 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001040185.1 +1 provisional p.N129H 0.044 301 0% 386 28.8% 0 - benign(0.004) tolerated(0.29) neutral(0.029) NULL ZNF765 91661 genome.wustl.edu 37 19 53911282 53911282 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001040185.1 +1 provisional p.E158D 0.493 374 0% 393 30.3% 0 - benign(0.07) tolerated(0.3) neutral(0.034) NULL ZNF765 91661 genome.wustl.edu 37 19 53911569 53911569 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001040185.1 +1 provisional p.S254L 0.000 294 0.3% 370 31.1% 1 0% benign(0) tolerated(0.1) neutral(0.286) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers MIR519D 574480 genome.wustl.edu 37 19 54216635 54216635 + RNA SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000385246 +1 known NULL 0.016 420 0% 578 27% 0 - - - - - NLRP12 91662 genome.wustl.edu 37 19 54314185 54314185 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_144687.2 -1 reviewed p.R243I 0.266 46 0% 51 17.6% 0 - possibly_damaging(0.906) deleterious(0) deleterious(0.804) HMMPfam_NACHT CACNG8 59283 genome.wustl.edu 37 19 54483231 54483231 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_031895.4 +1 reviewed p.L160M 0.999 159 0% 165 23.6% 0 - probably_damaging(0.999) tolerated(0.06) deleterious(0.813) HMMPfam_PMP22_Claudin VSTM1 284415 genome.wustl.edu 37 19 54545064 54545064 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_198481.3 -1 validated p.D187A 0.012 112 0% 146 25.3% 0 - benign(0.079) deleterious(0.04) neutral(0.354) NULL LILRA6 79168 genome.wustl.edu 37 19 54744920 54744920 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_024318.2 -1 validated p.D248Y 0.012 502 0% 437 12.6% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMSmart_IG,HMMPfam_ig,superfamily_SSF48726 LILRA5 353514 genome.wustl.edu 37 19 54818802 54818802 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_021250.2 -1 reviewed p.L266F 0.056 364 0% 343 25.9% 1 0% benign(0.011) deleterious(0) neutral(0.445) NULL LAIR2 3904 genome.wustl.edu 37 19 55020244 55020244 + Splice_Site SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_002288.3 +1 reviewed e4-1 0.010 268 0% 229 20.5% 0 - - - - - KIR3DX1 90011 genome.wustl.edu 37 19 55045040 55045040 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000335056 +1 known p.R54W 0.000 229 0% 218 29.4% 0 - possibly_damaging(0.708) deleterious(0.02) deleterious(0.639) HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin FCAR 2204 genome.wustl.edu 37 19 55396733 55396733 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_002000.2 +1 reviewed p.R53C 0.000 221 0% 242 16.5% 0 - probably_damaging(0.993) tolerated(0.18) deleterious(0.506) HMMSmart_SM00409,superfamily_Immunoglobulin NLRP2 55655 genome.wustl.edu 37 19 55494253 55494253 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_017852.3 +1 validated p.S396L 0.001 47 0% 30 20% 3 0% probably_damaging(0.979) deleterious(0.02) deleterious(0.805) NULL NLRP8 126205 genome.wustl.edu 37 19 56466570 56466570 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_176811.2 +1 provisional p.F382 0.000 141 0.7% 162 24.7% 0 - - - - NULL ZSCAN5C 649137 genome.wustl.edu 37 19 56720549 56720549 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000376267 +1 known p.R491* 0.036 58 0% 51 29.4% 0 - - - - superfamily_SSF57667 ZNF667 63934 genome.wustl.edu 37 19 56952770 56952770 + Missense_Mutation SNP A A G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_022103.3 -1 validated p.C532R 0.985 164 0% 187 28.9% 1 100% probably_damaging(0.983) deleterious(0) deleterious(0.873) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF667 63934 genome.wustl.edu 37 19 56953008 56953008 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_022103.3 -1 validated p.F452 0.329 136 0% 142 24.6% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZFP28 140612 genome.wustl.edu 37 19 57066471 57066471 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_020828.1 +1 provisional p.S773R 0.199 314 0% 314 27.1% 1 0% probably_damaging(0.992) tolerated(0.07) deleterious(0.766) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF17 7565 genome.wustl.edu 37 19 57932036 57932036 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_006959.2 +1 validated p.G392 0.969 199 0% 215 30.7% 2 50% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF772 400720 genome.wustl.edu 37 19 57984859 57984859 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001024596.2 -1 validated p.S418N 0.010 292 0% 289 20.4% 0 - possibly_damaging(0.461) tolerated(0.37) neutral(0.170) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF211 10520 genome.wustl.edu 37 19 58153449 58153449 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_006385.3 +1 validated p.T545M 0.999 284 0% 324 26.2% 4 75% possibly_damaging(0.92) deleterious(0) deleterious(0.816) superfamily_SSF57667 ZSCAN4 201516 genome.wustl.edu 37 19 58189646 58189646 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_152677.2 +1 validated p.E225D 0.004 147 0% 228 21.1% 0 - probably_damaging(0.99) tolerated(0.15) deleterious(0.682) NULL ZNF417 147687 genome.wustl.edu 37 19 58421437 58421437 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_152475.2 -1 validated p.R70I 0.000 214 0% 239 19.2% 7 14.2% benign(0) deleterious(0.04) neutral(0.349) HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF606 80095 genome.wustl.edu 37 19 58490621 58490621 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_025027.3 -1 validated p.R476I 1.000 236 0% 235 30.2% 0 - possibly_damaging(0.787) tolerated(0.16) neutral(0.354) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers RPS5 6193 genome.wustl.edu 37 19 58904471 58904471 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001009.3 +1 reviewed p.H79 0.831 103 1% 101 22.8% 1604 25.3% - - - HMMPfam_Ribosomal_S7,PatternScan_RIBOSOMAL_S7,superfamily_Ribosomal protein S7 ENSG00000249146 0 genome.wustl.edu 37 19 59021452 59021452 + RNA SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000514271 +1 known NULL 0.000 44 0% 60 28.3% 0 - - - - - SIRPG 55423 genome.wustl.edu 37 20 1616867 1616867 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_018556.3 -1 reviewed p.R239S 0.985 292 0% 305 22.3% 5 0% benign(0.18) deleterious(0.02) neutral(0.400) HMMPfam_C1-set EBF4 57593 genome.wustl.edu 37 20 2686289 2686289 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001110514.1 +1 provisional p.F64L 1.000 202 0% 196 26% 3 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SIGLEC1 6614 genome.wustl.edu 37 20 3687141 3687141 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_023068.3 -1 reviewed p.E88K 0.000 37 0% 31 25.8% 0 - benign(0.075) tolerated(0.67) neutral(0.007) HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin CDC25B 994 genome.wustl.edu 37 20 3784161 3784161 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_021873.2 +1 reviewed p.F489L 1.000 162 0% 98 24.5% 34 17.6% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Rhodanese,HMMSmart_SM00450,superfamily_Rhodanese/Cell cycle control phosphatase PANK2 80025 genome.wustl.edu 37 20 3888828 3888828 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_153638.2 +1 reviewed p.F295C 1.000 264 0% 308 27.9% 14 35.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Fumble,superfamily_Actin-like ATPase domain PCNA 5111 genome.wustl.edu 37 20 5095950 5095950 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_002592.2 -1 reviewed p.I255 0.475 381 0% 469 27.3% 67 34.3% - - - superfamily_DNA clamp PROKR2 128674 genome.wustl.edu 37 20 5282798 5282798 + Missense_Mutation SNP A A G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_144773.2 -1 reviewed p.M348T 0.996 240 0% 256 29.3% 0 - benign(0.002) deleterious(0.03) neutral(0.364) superfamily_SSF81321 TASP1 55617 genome.wustl.edu 37 20 13567972 13567972 + Silent SNP A A G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_017714.2 -1 reviewed p.L110 1.000 378 0% 486 26.3% 6 50% - - - HMMPfam_Asparaginase_2,superfamily_SSF56235 SEL1L2 80343 genome.wustl.edu 37 20 13845828 13845828 + Nonsense_Mutation SNP G G A rs181883053 by1000genomes TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_025229.1 -1 validated p.R544* 1.000 277 0% 257 31.9% 0 - - - - superfamily_SSF81901 SEL1L2 80343 genome.wustl.edu 37 20 13866968 13866968 + Missense_Mutation SNP T T G rs146403121 by1000genomes TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_025229.1 -1 validated p.K289T 1.000 648 0% 743 30.4% 0 - probably_damaging(0.99) deleterious(0.01) deleterious(0.847) superfamily_SSF81901 BFSP1 631 genome.wustl.edu 37 20 17475524 17475524 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001195.3 -1 reviewed p.K398T 0.000 509 0% 497 31% 0 - probably_damaging(0.995) deleterious(0.03) deleterious(0.822) NULL XRN2 22803 genome.wustl.edu 37 20 21327175 21327175 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_012255.3 +1 reviewed p.R551I 1.000 379 0% 386 17.1% 18 27.7% probably_damaging(0.977) tolerated(0.06) deleterious(0.742) NULL NAPB 63908 genome.wustl.edu 37 20 23383635 23383635 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_022080.2 -1 validated p.W58L 1.000 448 0% 543 20.6% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_TPR-like VSX1 30813 genome.wustl.edu 37 20 25059434 25059434 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_199425.1 -1 reviewed p.D220Y 0.000 353 0% 364 13.7% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL ENTPD6 955 genome.wustl.edu 37 20 25193952 25193952 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000433417 +1 known p.S90L 0.001 137 0% 159 24.5% 52 48% - - - HMMPfam_GDA1_CD39 ENTPD6 955 genome.wustl.edu 37 20 25196318 25196318 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001247.2 +1 reviewed p.S227L 0.328 124 0% 167 35.9% 45 42.2% benign(0.004) tolerated(0.77) neutral(0.001) HMMPfam_GDA1_CD39,PatternScan_GDA1_CD39_NTPASE SUN5 140732 genome.wustl.edu 37 20 31592102 31592102 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_080675.3 -1 validated p.L15 0.000 118 0% 141 22% 0 - - - - NULL BPIFA3 128861 genome.wustl.edu 37 20 31812227 31812227 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_178466.3 +1 validated p.F115 0.579 323 0% 345 27.8% 0 - - - - HMMPfam_LBP_BPI_CETP,superfamily_Bactericidal permeability-increasing protein BPI CHMP4B 128866 genome.wustl.edu 37 20 32441324 32441324 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_176812.4 +1 reviewed p.D211 0.177 168 0% 268 22% 337 34.7% - - - NULL EIF2S2 8894 genome.wustl.edu 37 20 32684576 32684576 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_003908.3 -1 reviewed p.K190N 1.000 412 0% 417 23.7% 51 35.2% probably_damaging(1) tolerated(0.15) deleterious(0.741) HMMPfam_eIF-5_eIF-2B,superfamily_Translation initiation factor 2 beta aIF2beta N-terminal domain NCOA6 23054 genome.wustl.edu 37 20 33345246 33345246 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_014071.2 -1 reviewed p.F435 0.990 267 0% 298 26.2% 3 33.3% - - - NULL GDF5OS 554250 genome.wustl.edu 37 20 34022687 34022687 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000374375 +1 known p.S244Y 0.961 21 0% 27 29.6% 1 0% unknown(0) - - NULL C20orf152 140894 genome.wustl.edu 37 20 34618469 34618469 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_080834.1 +1 predicted p.R540C 0.000 261 0.4% 341 24.6% 0 - benign(0.001) tolerated(0.07) neutral(0.319) NULL EPB41L1 2036 genome.wustl.edu 37 20 34809826 34809826 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_012156.2 +1 reviewed p.R827Q 1.000 126 0% 125 28% 48 47.9% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_4_1_CTD NNAT 4826 genome.wustl.edu 37 20 36150803 36150803 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_005386.2 +1 reviewed p.R39Q 1.000 181 0% 219 38.8% 0 - unknown(0) deleterious(0) - NULL CTNNBL1 56259 genome.wustl.edu 37 20 36386050 36386050 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_030877.3 +1 reviewed p.D186N 1.000 289 0.3% 343 24.2% 12 58.3% possibly_damaging(0.948) deleterious(0.01) deleterious(0.796) superfamily_ARM repeat KIAA1755 85449 genome.wustl.edu 37 20 36869387 36869387 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001029864.1 -1 predicted p.D382E 0.003 46 0% 35 20% 2 0% benign(0.022) tolerated(0.61) neutral(0.005) NULL RALGAPB 57148 genome.wustl.edu 37 20 37202869 37202869 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_020336.2 +1 validated p.Q1407K 1.000 232 0% 188 24.5% 6 33.3% benign(0.002) tolerated(0.08) neutral(0.300) superfamily_Rap/Ran-GAP (Pfam 02145) ADIG 149685 genome.wustl.edu 37 20 37209999 37209999 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001018082.1 +1 validated p.R36C 0.002 492 0% 589 28.5% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL ACTR5 79913 genome.wustl.edu 37 20 37384521 37384521 + Missense_Mutation SNP A A G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_024855.3 +1 validated p.M339V 1.000 252 0% 255 23.1% 4 50% benign(0) tolerated(0.59) neutral(0.004) HMMPfam_Actin,HMMSmart_ACTIN,superfamily_SSF53067 GTSF1L 149699 genome.wustl.edu 37 20 42355134 42355134 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_176791.3 -1 validated p.S67 0.557 272 0% 246 30.5% 0 - - - - HMMPfam_UPF0224 HNF4A 3172 genome.wustl.edu 37 20 43057054 43057054 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_000457.3 +1 reviewed p.I403 0.617 85 0% 102 22.5% 0 - - - - NULL ZNF840 100130863 genome.wustl.edu 37 20 45093595 45093595 + Silent SNP T T C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 XM_001722110.1 +1 model p.F163 0.915 175 0% 216 26.9% 0 - - - - NULL ZNF334 55713 genome.wustl.edu 37 20 45130368 45130368 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_018102.3 -1 validated p.R537K 0.528 182 0% 219 27.4% 0 - benign(0.279) tolerated(0.08) neutral(0.330) superfamily_SSF57667 SLC9A8 23315 genome.wustl.edu 37 20 48497520 48497520 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_015266.1 +1 validated p.F406L 1.000 498 0% 549 28.1% 1 0% benign(0) tolerated(0.75) neutral(0.002) HMMPfam_Na_H_Exchanger TSHZ2 128553 genome.wustl.edu 37 20 51870781 51870781 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_173485.4 +1 validated p.A262T 1.000 76 0% 73 28.8% 5 0% possibly_damaging(0.949) tolerated(0.07) deleterious(0.712) NULL CASS4 57091 genome.wustl.edu 37 20 55027208 55027208 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_020356.3 +1 validated p.D326Y 0.000 142 0% 128 22.7% 0 - benign(0.238) deleterious(0.04) neutral(0.373) NULL GCNT7 140687 genome.wustl.edu 37 20 55071917 55071917 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000243913 -1 known p.E128K 0.029 238 0% 243 23.5% 0 - benign(0) tolerated(0.19) neutral(0.050) HMMPfam_Branch BMP7 655 genome.wustl.edu 37 20 55803379 55803379 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001719.2 -1 reviewed p.E173K 1.000 108 0% 135 25.9% 3 0% probably_damaging(1) tolerated(0.06) deleterious(0.823) HMMPfam_TGFb_propeptide SPO11 23626 genome.wustl.edu 37 20 55908330 55908330 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_012444.2 +1 reviewed p.F111C 1.000 299 0% 232 18.5% 0 - possibly_damaging(0.878) tolerated(0.17) neutral(0.401) superfamily_DNA topoisomerase IV alpha subunit,HMMPfam_TP6A_N ZNF831 128611 genome.wustl.edu 37 20 57829766 57829766 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_178457.1 +1 provisional p.D1668N 0.984 66 0% 67 19.4% 1 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL SYCP2 10388 genome.wustl.edu 37 20 58467646 58467646 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_014258.2 -1 reviewed p.S635L 0.024 341 0% 489 27.2% 1 0% benign(0.001) tolerated(0.49) neutral(0.011) NULL LOC100287640 100287640 genome.wustl.edu 37 20 60504866 60504866 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 XM_002343715.1 -1 model p.D46N 1.000 86 0% 77 13% 1 0% - - - NULL USP25 29761 genome.wustl.edu 37 21 17191141 17191141 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_013396.3 +1 validated p.E352D 0.999 270 0% 363 28.4% 4 50% benign(0.004) tolerated(0.8) neutral(0.001) HMMPfam_UCH,superfamily_Cysteine proteinases CXADR 1525 genome.wustl.edu 37 21 18933073 18933073 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001338.3 +1 reviewed p.T209P 1.000 604 0.2% 716 31.7% 13 61.5% probably_damaging(1) tolerated(0.2) deleterious(0.549) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin NCAM2 4685 genome.wustl.edu 37 21 22881266 22881266 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_004540.2 +1 reviewed p.F724L 1.000 281 0% 385 11.2% 0 - probably_damaging(0.974) deleterious(0.04) deleterious(0.765) NULL KRTAP15-1 254950 genome.wustl.edu 37 21 31812922 31812922 + Silent SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_181623.1 +1 provisional p.R93 0.267 248 0% 223 17.9% 0 - - - - HMMPfam_PMG TIAM1 7074 genome.wustl.edu 37 21 32575277 32575277 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_003253.2 -1 validated p.E814* 0.959 455 0% 521 27.6% 1 0% - - - HMMPfam_RBD,HMMSmart_RBD SCAF4 57466 genome.wustl.edu 37 21 33044112 33044112 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_020706.2 -1 reviewed p.R1015Q 1.000 349 0% 386 30.8% 18 16.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL MIR802 768219 genome.wustl.edu 37 21 37093035 37093035 + RNA SNP A A G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000390235 +1 known NULL 1.000 169 0% 188 24.5% 0 - - - - - SH3BGR 6450 genome.wustl.edu 37 21 40834319 40834319 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_007341.2 +1 validated p.E85* 1.000 284 0% 391 26.6% 16 31.2% - - - HMMPfam_SH3BGR,superfamily_Thiordxn-like_fd SLC37A1 54020 genome.wustl.edu 37 21 43945930 43945930 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_018964.3 +1 reviewed p.S34N 1.000 524 0.2% 632 26.7% 17 47% probably_damaging(0.963) deleterious(0.02) deleterious(0.788) HMMPfam_MFS_1,superfamily_MFS general substrate transporter CBS 875 genome.wustl.edu 37 21 44485602 44485602 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_000071.2 -1 reviewed p.E187D 1.000 54 0% 52 21.2% 20 50% benign(0.002) deleterious(0.02) neutral(0.383) HMMPfam_PALP,superfamily_Tryptophan synthase beta subunit-like PLP-dependent enzymes AGPAT3 56894 genome.wustl.edu 37 21 45402199 45402199 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001037553.1 +1 reviewed p.R353C 1.000 116 0% 163 23.9% 19 36.8% probably_damaging(1) tolerated(0.05) deleterious(0.845) NULL PCBP3 54039 genome.wustl.edu 37 21 47333959 47333959 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000400304 +1 known p.A200V 1.000 44 0% 73 11% 1 0% benign(0.006) tolerated(0.14) neutral(0.249) NULL MCM3AP 8888 genome.wustl.edu 37 21 47705107 47705107 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_003906.3 -1 reviewed p.R32* 0.949 142 0% 124 27.4% 3 66.6% - - - NULL USP18 11274 genome.wustl.edu 37 22 18644666 18644666 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_017414.3 +1 validated p.E122* 0.990 77 0% 61 19.7% 11 0% - - - HMMPfam_UCH,superfamily_Cysteine proteinases DGCR8 54487 genome.wustl.edu 37 22 20082239 20082239 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_022720.5 +1 validated p.R570Q 1.000 171 0% 210 31% 10 10% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_dsrm,HMMSmart_SM00358,superfamily_dsRNA-binding domain-like IGLV4-60 28785 genome.wustl.edu 37 22 22516874 22516874 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000390284 +1 known p.I54 0.000 225 0% 247 25.1% 24 0% - - - HMMSmart_SM00406,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin ZNF280B 140883 genome.wustl.edu 37 22 22842527 22842527 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_080764.2 -1 reviewed p.G399 0.112 240 0% 279 28.7% 0 - - - - NULL IGLV3-27 28791 genome.wustl.edu 37 22 23011035 23011035 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000390304 +1 known p.P33L 0.002 124 0% 104 30.8% 15 0% benign(0) tolerated(0.41) neutral(0.015) HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin SPECC1L 23384 genome.wustl.edu 37 22 24717298 24717298 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001145468.1 +1 validated p.K117T 1.000 133 0% 138 27.5% 3 66.6% probably_damaging(0.978) deleterious(0.01) deleterious(0.826) NULL HPS4 89781 genome.wustl.edu 37 22 26853865 26853865 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_022081.4 -1 reviewed p.E639K 0.940 83 0% 97 18.6% 17 23.5% benign(0.15) deleterious(0.04) neutral(0.362) NULL CRYBA4 1413 genome.wustl.edu 37 22 27026429 27026429 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001886.2 +1 reviewed p.S190N 0.995 132 0% 110 23.6% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Crystall,HMMSmart_XTALbg,superfamily_G_crystallin_SF ZNRF3 84133 genome.wustl.edu 37 22 29439407 29439407 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_032173.2 +1 validated p.R108C 1.000 122 0% 117 23.9% 17 64.7% probably_damaging(0.984) deleterious(0.01) deleterious(0.836) NULL NF2 4771 genome.wustl.edu 37 22 30061039 30061039 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_000268.3 +1 reviewed p.R291C 1.000 399 0% 533 21.6% 6 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_FERM_C,superfamily_PH domain-like MTMR3 8897 genome.wustl.edu 37 22 30416037 30416037 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_021090.3 +1 reviewed p.R797* 0.003 136 0.7% 168 21.4% 7 14.2% - - - NULL PES1 23481 genome.wustl.edu 37 22 30984061 30984061 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_014303.2 -1 reviewed p.D69Y 1.000 434 0% 469 25.6% 21 33.3% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_Pescadillo_N RNF185 91445 genome.wustl.edu 37 22 31601135 31601135 + RNA SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NR_024209.1 +1 validated NULL 0.023 379 0% 423 20.8% 14 78.5% - - - - EIF3D 8664 genome.wustl.edu 37 22 36922110 36922110 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_003753.3 -1 reviewed p.A20V 1.000 116 0% 139 27.3% 55 36.3% benign(0.01) tolerated(0.28) neutral(0.032) HMMPfam_eIF-3_zeta IL2RB 3560 genome.wustl.edu 37 22 37528469 37528469 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000447922 -1 known p.E41K 0.023 360 0% 363 23.1% 23 0% - - - NULL ELFN2 114794 genome.wustl.edu 37 22 37771266 37771266 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_052906.3 -1 validated p.S103 0.109 205 0% 241 26.1% 0 - - - - superfamily_SSF52058 C22orf23 84645 genome.wustl.edu 37 22 38343354 38343354 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_032561.2 -1 predicted p.R95W 1.000 176 0% 220 16.4% 5 20% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_UPF0193 DDX17 10521 genome.wustl.edu 37 22 38890909 38890909 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001098504.1 -1 reviewed p.K341N 1.000 246 0% 304 30.3% 69 28.9% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_DEAD,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases APOBEC3C 27350 genome.wustl.edu 37 22 39414354 39414354 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_014508.2 +1 reviewed p.R179* 0.000 357 0% 368 20.4% 38 15.7% - - - HMMPfam_APOBEC_C TAB1 10454 genome.wustl.edu 37 22 39814764 39814764 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_006116.2 +1 reviewed p.S193L 0.996 111 0% 117 29.1% 12 8.3% benign(0.1) deleterious(0.03) neutral(0.372) HMMSmart_SM00332,superfamily_Protein serine/threonine phosphatase 2C catalytic domain,HMMPfam_PP2C FBLN1 2192 genome.wustl.edu 37 22 45996294 45996294 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_006486.2 +1 reviewed p.V694I 1.000 99 0% 84 22.6% 43 2.3% possibly_damaging(0.694) tolerated(0.22) neutral(0.291) NULL TTC38 55020 genome.wustl.edu 37 22 46671279 46671279 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_017931.2 +1 validated p.R167Q 1.000 278 0% 251 28.7% 10 20% probably_damaging(0.994) tolerated(0.12) deleterious(0.713) superfamily_SSF48452 MAPK12 6300 genome.wustl.edu 37 22 50695216 50695216 + Splice_Site SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000467891 -1 known NULL 0.008 39 0% 24 33.3% 0 - - - - - SHANK3 85358 genome.wustl.edu 37 22 51154132 51154132 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001080420.1 +1 reviewed p.E783D 1.000 106 0% 71 43.7% 5 0% benign(0.21) tolerated(0.18) neutral(0.076) NULL ENSG00000212884 0 genome.wustl.edu 37 GL000205.1 117722 117722 + Missense_Mutation SNP T T C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000391571 +1 known p.I118T NULL 63 7.9% 72 15.3% 0 - benign(0) tolerated(1) - NULL PPP2R3B 28227 genome.wustl.edu 37 X 306357 306357 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_013239.4 -1 reviewed p.F310L 1.000 307 0% 278 26.6% 11 63.6% benign(0.409) deleterious(0) deleterious(0.577) superfamily_EF-hand XG 7499 genome.wustl.edu 37 X 2700106 2700106 + Splice_Site SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001141919.1 +1 reviewed e4-1 0.037 376 0% 455 24.2% 0 - - - - - PNPLA4 8228 genome.wustl.edu 37 X 7889875 7889875 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001142389.1 -1 reviewed p.S97L 0.001 339 0% 342 31% 43 44.1% benign(0) tolerated(0.09) neutral(0.296) HMMPfam_Patatin,superfamily_FabD/lysophospholipase-like FAM9A 171482 genome.wustl.edu 37 X 8766431 8766431 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_174951.3 -1 validated p.E104* 0.045 819 0% 918 21.6% 0 - - - - NULL ARHGAP6 395 genome.wustl.edu 37 X 11682616 11682616 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_013427.2 -1 reviewed p.E111 0.977 92 0% 109 33% 0 - - - - NULL MSL3 10943 genome.wustl.edu 37 X 11782015 11782015 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_078629.2 +1 reviewed p.K289T 1.000 328 0% 360 25.6% 7 28.5% probably_damaging(0.998) tolerated(0.15) deleterious(0.716) HMMPfam_MRG FANCB 2187 genome.wustl.edu 37 X 14863192 14863192 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001018113.1 -1 reviewed p.K571N 0.003 140 0% 170 25.9% 2 0% benign(0.076) tolerated(0.05) neutral(0.351) NULL BMX 660 genome.wustl.edu 37 X 15555384 15555384 + Silent SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001721.6 +1 reviewed p.G450 0.987 444 0% 526 25.7% 0 - - - - HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like BMX 660 genome.wustl.edu 37 X 15555405 15555405 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001721.6 +1 reviewed p.F457L 1.000 449 0% 502 30.1% 0 - possibly_damaging(0.932) deleterious(0.04) deleterious(0.728) HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like ACE2 59272 genome.wustl.edu 37 X 15618957 15618957 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_021804.2 -1 reviewed p.K26N 0.000 294 0% 313 25.9% 1 0% benign(0.001) tolerated(0.08) neutral(0.300) "HMMPfam_Peptidase_M2,superfamily_Metalloproteases (""zincins"") catalytic domain" PPEF1 5475 genome.wustl.edu 37 X 18775789 18775789 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_006240.2 +1 reviewed p.K147N 0.989 456 0% 442 27.6% 0 - possibly_damaging(0.787) tolerated(0.16) neutral(0.354) HMMSmart_SM00156,HMMPfam_PPP5,superfamily_Metallo-dependent phosphatases MAP7D2 256714 genome.wustl.edu 37 X 20028971 20028971 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_152780.3 -1 validated p.E717K 0.998 237 0% 349 23.5% 0 - probably_damaging(0.977) deleterious(0.01) deleterious(0.825) NULL MAP7D2 256714 genome.wustl.edu 37 X 20033395 20033395 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_152780.3 -1 validated p.L524 0.950 520 0% 509 27.7% 0 - - - - HMMPfam_MAP7 EIF1AX 1964 genome.wustl.edu 37 X 20150343 20150343 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001412.3 -1 reviewed p.D98 1.000 290 0% 318 24.8% 46 47.8% - - - HMMSmart_SM00652,superfamily_Nucleic acid-binding proteins MBTPS2 51360 genome.wustl.edu 37 X 21900709 21900709 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_015884.3 +1 reviewed p.L499R 1.000 503 0% 454 25.1% 4 0% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_Peptidase_M50 PCYT1B 9468 genome.wustl.edu 37 X 24608196 24608196 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_004845.4 -1 reviewed p.E144K 1.000 286 0% 384 27.3% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_CTP_transf_2,superfamily_Nucleotidylyl transferase MAGEB3 4114 genome.wustl.edu 37 X 30254163 30254163 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_002365.4 +1 reviewed p.S41* 0.002 104 0% 77 23.4% 0 - - - - NULL GK 2710 genome.wustl.edu 37 X 30671720 30671720 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001128127.1 +1 reviewed p.S22 0.999 80 0% 121 14.9% 1 0% - - - HMMPfam_FGGY_N,superfamily_SSF53067 GK 2710 genome.wustl.edu 37 X 30712651 30712651 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001128127.1 +1 reviewed p.I183M 0.994 318 0% 244 19.7% 3 0% possibly_damaging(0.789) tolerated(0.08) deleterious(0.596) HMMPfam_FGGY_N,superfamily_SSF53067 DMD 1756 genome.wustl.edu 37 X 31697697 31697697 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_004006.2 -1 reviewed p.R2556I 1.000 536 0% 443 20.1% 0 - possibly_damaging(0.708) deleterious(0) deleterious(0.700) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat DMD 1756 genome.wustl.edu 37 X 31747750 31747750 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_004006.2 -1 reviewed p.R2553Q 1.000 579 0% 667 26.8% 0 - probably_damaging(1) tolerated(0.09) deleterious(0.796) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat TMEM47 83604 genome.wustl.edu 37 X 34648532 34648532 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_031442.3 -1 reviewed p.E148 1.000 439 0% 481 23.5% 2 0% - - - NULL CXorf30 645090 genome.wustl.edu 37 X 36371748 36371748 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001098843.3 +1 validated p.L381V 0.000 313 0% 400 26% 0 - benign(0.001) tolerated(0.64) neutral(0.003) NULL SRPX 8406 genome.wustl.edu 37 X 38009077 38009077 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_006307.4 -1 validated p.R428C 1.000 209 0% 243 28.8% 4 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL TSPAN7 7102 genome.wustl.edu 37 X 38540529 38540529 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_004615.3 +1 reviewed p.I223 0.133 306 0% 304 31.2% 9 0% - - - HMMPfam_Tetraspannin BCOR 54880 genome.wustl.edu 37 X 39921606 39921606 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001123385.1 -1 reviewed p.S1405L 0.174 187 0% 165 26.7% 9 11.1% benign(0.001) deleterious(0.01) neutral(0.406) NULL MED14 9282 genome.wustl.edu 37 X 40551443 40551443 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_004229.3 -1 reviewed p.R658W 1.000 457 0% 508 29.9% 10 30% probably_damaging(0.972) deleterious(0.01) deleterious(0.820) NULL USP9X 8239 genome.wustl.edu 37 X 41029255 41029255 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001039590.2 +1 reviewed p.R882C 1.000 358 0% 408 29.4% 12 41.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL USP9X 8239 genome.wustl.edu 37 X 41075316 41075316 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001039590.2 +1 reviewed p.V1832 0.996 276 0% 366 24.3% 35 37.1% - - - HMMPfam_UCH,superfamily_Cysteine proteinases NDP 4693 genome.wustl.edu 37 X 43817752 43817752 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_000266.3 -1 reviewed p.S47Y 1.000 273 0% 307 21.5% 7 0% possibly_damaging(0.681) deleterious(0) deleterious(0.688) HMMSmart_SM00041 PHF16 9767 genome.wustl.edu 37 X 46913821 46913821 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001077445.1 +1 reviewed p.R412* 0.000 105 0% 131 23.7% 2 0% - - - NULL NDUFB11 54539 genome.wustl.edu 37 X 47001817 47001817 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_019056.5 -1 validated p.E131K 1.000 266 0% 292 24.7% 327 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ESSS RBM10 8241 genome.wustl.edu 37 X 47044742 47044742 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_005676.3 +1 reviewed p.P714 0.047 138 0.7% 149 24.8% 49 0% - - - NULL SYN1 6853 genome.wustl.edu 37 X 47434605 47434605 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_006950.3 -1 reviewed p.L409 0.374 62 0% 72 16.7% 1 0% - - - HMMPfam_Synapsin_C,superfamily_Glutathione synthetase ATP-binding domain-like ZNF182 7569 genome.wustl.edu 37 X 47861999 47861999 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001007088.1 -1 reviewed p.P4S 0.000 243 0% 338 24.6% 1 0% possibly_damaging(0.771) tolerated(0.53) neutral(0.294) superfamily_Krueppel-associated_box SSX3 10214 genome.wustl.edu 37 X 48214093 48214093 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_021014.2 -1 reviewed p.R53I 0.983 1072 0% 1395 23.4% 0 - benign(0.028) deleterious(0.02) neutral(0.385) HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box SLC38A5 92745 genome.wustl.edu 37 X 48325462 48325462 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_033518.2 -1 validated p.F44 0.997 107 0% 107 25.2% 2 0% - - - NULL SLC38A5 92745 genome.wustl.edu 37 X 48326172 48326172 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_033518.2 -1 validated p.G18 0.724 144 0% 157 17.2% 3 0% - - - NULL SLC35A2 7355 genome.wustl.edu 37 X 48767197 48767197 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_005660.1 -1 provisional p.Y56 0.228 155 0% 178 34.8% 29 0% - - - NULL ENSG00000223309 0 genome.wustl.edu 37 X 48816516 48816516 + RNA SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000411377 -1 known NULL 0.007 313 0% 334 27.8% 0 - - - - - GPKOW 27238 genome.wustl.edu 37 X 48970633 48970633 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_015698.4 -1 validated p.E453* 0.986 379 0% 379 24% 22 0% - - - NULL GPKOW 27238 genome.wustl.edu 37 X 48978770 48978770 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_015698.4 -1 validated p.D145A 0.493 95 0% 88 23.9% 23 82.6% probably_damaging(0.959) tolerated(0.07) deleterious(0.722) NULL CACNA1F 778 genome.wustl.edu 37 X 49071877 49071877 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_005183.2 -1 reviewed p.F1132 0.989 353 0% 367 27.8% 1 0% - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels CLCN5 1184 genome.wustl.edu 37 X 49834631 49834631 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001127898.1 +1 reviewed p.F87 1.000 359 0% 386 25.6% 0 - - - - NULL AKAP4 8852 genome.wustl.edu 37 X 49955615 49955615 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_003886.2 -1 reviewed p.L851 0.662 211 0% 233 24.9% 0 - - - - HMMPfam_AKAP_110,HMMSmart_SM00807 AKAP4 8852 genome.wustl.edu 37 X 49957288 49957288 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_003886.2 -1 reviewed p.A692 0.998 285 0% 306 22.9% 0 - - - - HMMPfam_AKAP_110,HMMSmart_SM00807 CCNB3 85417 genome.wustl.edu 37 X 50051847 50051847 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_033031.2 +1 reviewed p.K226N 0.000 75 0% 109 23.9% 0 - benign(0.001) deleterious(0) neutral(0.445) NULL BMP15 9210 genome.wustl.edu 37 X 50653980 50653980 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_005448.2 +1 reviewed p.S66* 0.004 98 0% 95 30.5% 0 - - - - NULL BMP15 9210 genome.wustl.edu 37 X 50659068 50659068 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_005448.2 +1 reviewed p.D214Y 0.001 280 0% 311 22.5% 0 - possibly_damaging(0.924) tolerated(0.21) neutral(0.417) NULL MAGED1 9500 genome.wustl.edu 37 X 51639541 51639541 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001005333.1 +1 reviewed p.D320N 0.999 45 0% 49 30.6% 73 0% probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL HUWE1 10075 genome.wustl.edu 37 X 53566025 53566025 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000427052 -1 known p.R2917* 0.013 130 0% 135 22.2% 55 61.8% - - - NULL HUWE1 10075 genome.wustl.edu 37 X 53634626 53634626 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_031407.4 -1 reviewed p.T785I 1.000 380 0% 359 25.6% 5 40% possibly_damaging(0.916) tolerated(0.05) deleterious(0.712) HMMPfam_DUF913 WNK3 65267 genome.wustl.edu 37 X 54228451 54228451 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_020922.4 -1 reviewed p.E1682D 0.959 656 0% 873 25.3% 0 - probably_damaging(0.987) tolerated(0.06) deleterious(0.759) NULL WNK3 65267 genome.wustl.edu 37 X 54263821 54263821 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_020922.4 -1 reviewed p.S1393L 0.000 415 0% 395 27.3% 0 - benign(0.273) deleterious(0.01) neutral(0.435) NULL TSR2 90121 genome.wustl.edu 37 X 54470891 54470891 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_058163.1 +1 provisional p.P162S 0.000 276 0% 290 25.2% 49 0% benign(0.002) tolerated(0.8) neutral(0.001) NULL ITIH6 347365 genome.wustl.edu 37 X 54777672 54777672 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_198510.2 -1 reviewed p.S1165Y 0.000 240 0% 318 23.6% 0 - benign(0.032) deleterious(0.01) neutral(0.407) HMMPfam_ITI_HC_C ITIH6 347365 genome.wustl.edu 37 X 54783521 54783521 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_198510.2 -1 reviewed p.A996T 0.044 264 0% 271 28% 0 - possibly_damaging(0.915) - - NULL ITIH6 347365 genome.wustl.edu 37 X 54800571 54800571 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_198510.2 -1 reviewed p.K282N 0.965 173 0% 207 27.5% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMSmart_VWA,superfamily_SSF53300 ITIH6 347365 genome.wustl.edu 37 X 54814929 54814929 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_198510.2 -1 reviewed p.I257S 0.902 266 0% 280 24.6% 0 - benign(0.15) tolerated(0.89) neutral(0.013) NULL MAGED2 10916 genome.wustl.edu 37 X 54837722 54837722 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_014599.4 +1 reviewed p.T296P 0.993 472 0% 459 28.8% 78 0% probably_damaging(0.999) deleterious(0.03) deleterious(0.855) HMMPfam_MAGE APEX2 27301 genome.wustl.edu 37 X 55028008 55028008 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_014481.2 +1 reviewed p.V63I 0.517 156 0% 137 31.4% 12 66.6% benign(0.137) tolerated(0.14) neutral(0.261) HMMPfam_Exo_endo_phos,superfamily_Exo_endo_phos APEX2 27301 genome.wustl.edu 37 X 55033053 55033053 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_014481.2 +1 reviewed p.R248C 1.000 102 0% 91 26.4% 16 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Exo_endo_phos,superfamily_Exo_endo_phos PAGE3 139793 genome.wustl.edu 37 X 55289729 55289729 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000374951 -1 known p.Y50D 0.001 592 0% 665 26.2% 0 - possibly_damaging(0.799) tolerated(0.21) neutral(0.345) HMMPfam_GAGE RRAGB 10325 genome.wustl.edu 37 X 55757864 55757864 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_016656.3 +1 validated p.L149M 1.000 199 0% 208 20.2% 13 0% benign(0.09) tolerated(0.16) neutral(0.066) superfamily_P-loop containing nucleoside triphosphate hydrolases ZXDB 158586 genome.wustl.edu 37 X 57619915 57619915 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_007157.3 +1 validated p.H478 1.000 236 0% 207 26.6% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers SPIN4 139886 genome.wustl.edu 37 X 62570024 62570024 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001012968.2 -1 validated p.A225 0.995 156 0% 197 21.8% 2 0% - - - HMMPfam_Spin-Ssty ASB12 142689 genome.wustl.edu 37 X 63445393 63445393 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_130388.2 -1 reviewed p.N37 0.154 159 0% 179 24% 0 - - - - superfamily_ANK LAS1L 81887 genome.wustl.edu 37 X 64749525 64749525 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_031206.4 -1 validated p.E250K 0.047 497 0% 457 24.9% 15 0% benign(0.001) tolerated(1) - NULL LOC100129144 100129144 genome.wustl.edu 37 X 66594454 66594454 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 XM_001721427.1 +1 model p.E163K 0.971 74 0% 124 32.3% 0 - - - - HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers OPHN1 4983 genome.wustl.edu 37 X 67430067 67430067 + Missense_Mutation SNP T T C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_002547.2 -1 reviewed p.K254E 1.000 872 0% 995 28% 0 - possibly_damaging(0.796) tolerated(0.1) deleterious(0.585) superfamily_SSF50729 YIPF6 286451 genome.wustl.edu 37 X 67731808 67731808 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_173834.2 +1 provisional p.R59C 1.000 372 0% 437 20.6% 9 0% probably_damaging(0.996) deleterious(0.02) deleterious(0.845) NULL PJA1 64219 genome.wustl.edu 37 X 68382283 68382283 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_145119.3 -1 reviewed p.N267H 0.012 134 0% 123 24.4% 9 0% benign(0.429) deleterious(0) deleterious(0.584) NULL FAM155B 27112 genome.wustl.edu 37 X 68725597 68725597 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_015686.2 +1 validated p.E158K 0.315 77 0% 31 19.4% 0 - benign(0.15) tolerated(0.31) neutral(0.040) NULL NLGN3 54413 genome.wustl.edu 37 X 70373340 70373340 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_018977.3 +1 reviewed p.K157N 1.000 309 0% 380 28.7% 1 0% benign(0.408) deleterious(0.03) deleterious(0.496) HMMPfam_COesterase,superfamily_SSF53474 TAF1 6872 genome.wustl.edu 37 X 70587976 70587976 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_004606.3 +1 reviewed p.R123I 1.000 352 0% 416 22.6% 3 0% possibly_damaging(0.465) tolerated(0.09) neutral(0.450) NULL OGT 8473 genome.wustl.edu 37 X 70782801 70782801 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_181672.2 +1 reviewed p.E694 1.000 388 0% 396 25.5% 20 0% - - - NULL ACRC 93953 genome.wustl.edu 37 X 70817887 70817887 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_052957.4 +1 validated p.D103 0.066 352 0% 420 27.6% 0 - - - - NULL NHSL2 340527 genome.wustl.edu 37 X 71359952 71359952 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001013627.2 +1 provisional p.E486K 0.980 186 0% 208 24.5% 0 - possibly_damaging(0.942) tolerated(0.71) neutral(0.389) NULL ERCC6L 54821 genome.wustl.edu 37 X 71426540 71426540 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_017669.2 -1 validated p.E693* 0.123 232 0% 192 26% 1 0% - - - NULL RLIM 51132 genome.wustl.edu 37 X 73812450 73812450 + Missense_Mutation SNP G G C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_016120.3 -1 reviewed p.P234A 0.973 323 0.3% 307 27.7% 5 0% benign(0.004) tolerated(0.43) neutral(0.013) NULL KIAA2022 340533 genome.wustl.edu 37 X 73960158 73960158 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001008537.2 -1 validated p.R1412C 0.606 359 0% 401 29.7% 0 - possibly_damaging(0.909) deleterious(0.01) deleterious(0.768) NULL UPRT 139596 genome.wustl.edu 37 X 74494389 74494389 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_145052.3 +1 reviewed p.C100 0.024 54 0% 64 21.9% 2 0% - - - superfamily_PRTase-like ZDHHC15 158866 genome.wustl.edu 37 X 74641764 74641764 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_144969.2 -1 reviewed p.F266L 0.825 404 0% 439 26% 0 - benign(0) tolerated(0.72) neutral(0.002) NULL ATRX 546 genome.wustl.edu 37 X 76889096 76889096 + Silent SNP A A G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_000489.3 -1 reviewed p.F1638 1.000 142 0% 158 12% 4 0% - - - HMMPfam_SNF2_N,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases ATRX 546 genome.wustl.edu 37 X 76938927 76938927 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_000489.3 -1 reviewed p.E607D 0.309 111 0% 155 25.8% 3 66.6% benign(0) deleterious(0.03) neutral(0.364) NULL PGAM4 441531 genome.wustl.edu 37 X 77224481 77224481 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001029891.2 -1 reviewed p.E219* 1.000 167 0% 258 26.4% 0 - - - - superfamily_SSF53254 LOC100289421 100289421 genome.wustl.edu 37 X 77359755 77359755 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 XM_002343831.1 -1 model p.E62K 0.000 45 0% 45 28.9% 6 0% - - - NULL CYSLTR1 10800 genome.wustl.edu 37 X 77528306 77528306 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_006639.2 -1 reviewed p.S313Y 1.000 189 0% 199 31.7% 3 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL LPAR4 2846 genome.wustl.edu 37 X 78011219 78011219 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_005296.2 +1 reviewed p.L285V 0.946 508 0% 510 14.3% 0 - benign(0) tolerated(1) - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ITM2A 9452 genome.wustl.edu 37 X 78616844 78616844 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_004867.4 -1 reviewed p.R229C 0.986 175 0% 184 26.6% 29 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL RPS6KA6 27330 genome.wustl.edu 37 X 83400507 83400507 + Silent SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_014496.4 -1 reviewed p.V160 0.999 292 0% 321 32.4% 0 - - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase KLHL4 56062 genome.wustl.edu 37 X 86773235 86773235 + Missense_Mutation SNP G G T rs186431341 by1000genomes TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_057162.2 +1 reviewed p.K113N 0.146 109 0% 109 27.5% 0 - benign(0.001) tolerated(0.55) neutral(0.007) NULL SYTL4 94121 genome.wustl.edu 37 X 99934361 99934361 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001129896.2 -1 reviewed p.K536T 1.000 309 0% 293 30.4% 2 0% probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) CENPI 2491 genome.wustl.edu 37 X 100402751 100402751 + Splice_Site SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_006733.2 +1 reviewed e17-1 1.000 325 0% 345 17.4% 0 - - - - - DRP2 1821 genome.wustl.edu 37 X 100513302 100513302 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001939.2 +1 reviewed p.L799F 1.000 89 0% 89 23.6% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL ZMAT1 84460 genome.wustl.edu 37 X 101139732 101139732 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001011657.2 -1 reviewed p.E223* 0.045 425 0% 415 11.3% 7 0% - - - NULL NXF2 56001 genome.wustl.edu 37 X 101572404 101572404 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_017809.3 +1 reviewed p.T101M 0.001 678 0% 605 12.2% 0 - benign(0.017) tolerated(0.34) neutral(0.024) NULL GPRASP2 114928 genome.wustl.edu 37 X 101971700 101971700 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001004051.2 +1 reviewed p.R635* 0.963 473 0.2% 450 30.9% 1 0% - - - HMMPfam_DUF634 BEX1 55859 genome.wustl.edu 37 X 102317886 102317886 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_018476.3 -1 validated p.R106Q 0.014 423 0% 492 29.7% 5 0% benign(0.056) deleterious(0) neutral(0.448) HMMPfam_BEX NGFRAP1 27018 genome.wustl.edu 37 X 102632525 102632525 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_206915.1 +1 validated p.R36* 0.001 302 0% 377 29.7% 136 76.4% - - - HMMPfam_BEX H2BFM 286436 genome.wustl.edu 37 X 103295410 103295410 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 XM_001723437.2 +1 model p.A251 0.000 741 0.1% 887 28% 0 - - - - superfamily_Histone-fold CXorf57 55086 genome.wustl.edu 37 X 105881011 105881011 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_018015.5 +1 validated p.T477M 0.006 200 0% 214 11.2% 0 - probably_damaging(0.996) tolerated(0.23) deleterious(0.503) NULL TBC1D8B 54885 genome.wustl.edu 37 X 106065412 106065412 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_017752.2 +1 validated p.S189Y 1.000 580 0.2% 598 25.6% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_GRAM,HMMSmart_SM00568 MID2 11043 genome.wustl.edu 37 X 107084109 107084109 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_012216.3 +1 reviewed p.T72P 0.992 229 0% 215 25.1% 1 0% benign(0) deleterious(0.04) neutral(0.349) HMMSmart_SM00184,HMMPfam_zf-C3HC4,superfamily_RING/U-box GUCY2F 2986 genome.wustl.edu 37 X 108625403 108625403 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001522.2 -1 reviewed p.L1032F 1.000 274 0% 387 27.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Guanylate_cyc,HMMSmart_SM00044,superfamily_Adenylyl and guanylyl cyclase catalytic domain GUCY2F 2986 genome.wustl.edu 37 X 108691390 108691390 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001522.2 -1 reviewed p.R493C 0.300 430 0% 466 30.5% 0 - possibly_damaging(0.729) deleterious(0.04) deleterious(0.615) NULL ACSL4 2182 genome.wustl.edu 37 X 108926400 108926400 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_022977.2 -1 reviewed p.N106H 1.000 463 0% 428 31.3% 6 83.3% possibly_damaging(0.903) deleterious(0.02) deleterious(0.741) superfamily_Acetyl-CoA synthetase-like RGAG1 57529 genome.wustl.edu 37 X 109697238 109697238 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_020769.2 +1 validated p.A1131 0.000 272 0% 306 26.5% 0 - - - - NULL RGAG1 57529 genome.wustl.edu 37 X 109697521 109697521 + Missense_Mutation SNP T T C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_020769.2 +1 validated p.Y1226H 0.994 213 0% 183 26.2% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL ALG13 79868 genome.wustl.edu 37 X 110970087 110970087 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000394780 +1 known p.R594* 1.000 205 0% 282 26.6% 0 - - - - NULL LRCH2 57631 genome.wustl.edu 37 X 114400881 114400881 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_020871.3 -1 validated p.K341N 1.000 203 0% 208 26% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL RBMXL3 139804 genome.wustl.edu 37 X 114424789 114424789 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001145346.1 +1 validated p.R262H 0.000 25 0% 24 41.7% 0 - possibly_damaging(0.485) tolerated(0.08) neutral(0.461) NULL LRCH2 57631 genome.wustl.edu 37 X 114468442 114468442 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_020871.3 -1 validated p.L55I 1.000 31 0% 18 27.8% 0 - possibly_damaging(0.454) tolerated(0.21) neutral(0.193) superfamily_SSF52058 KLHL13 90293 genome.wustl.edu 37 X 117043591 117043591 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_033495.3 -1 reviewed p.G347* 1.000 241 0% 249 26.9% 0 - - - - HMMSmart_SM00612,superfamily_Galactose oxidase central domain SEPT6 23157 genome.wustl.edu 37 X 118763286 118763286 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_015129.5 -1 reviewed p.K425N 1.000 320 0% 241 22.8% 27 0% benign(0.317) deleterious(0) deleterious(0.543) NULL RHOXF2 84528 genome.wustl.edu 37 X 119294300 119294300 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_032498.1 +1 provisional p.L176 0.001 631 0% 700 13% 0 - - - - HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like,PatternScan_HOMEOBOX_1 ATP1B4 23439 genome.wustl.edu 37 X 119509348 119509348 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001142447.2 +1 reviewed p.K228N 1.000 308 0% 308 26.9% 0 - possibly_damaging(0.553) tolerated(0.12) neutral(0.449) HMMPfam_Na_K-ATPase,PatternScan_ATPASE_NA_K_BETA_2 MCTS1 28985 genome.wustl.edu 37 X 119739328 119739328 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001137554.1 +1 validated p.K27N 1.000 133 0.8% 212 14.6% 56 0% probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL GRIA3 2892 genome.wustl.edu 37 X 122460032 122460032 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000264357 +1 known p.E222K 1.000 204 0% 303 26.1% 0 - probably_damaging(0.991) tolerated(0.06) deleterious(0.766) HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I THOC2 57187 genome.wustl.edu 37 X 122756977 122756977 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001081550.1 -1 validated p.E1221* 1.000 238 0% 230 28.7% 14 0% - - - NULL ODZ1 10178 genome.wustl.edu 37 X 123637512 123637512 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_014253.3 -1 reviewed p.L1115I 1.000 310 0% 406 17.2% 0 - probably_damaging(0.97) tolerated(0.22) neutral(0.454) NULL ODZ1 10178 genome.wustl.edu 37 X 123787478 123787478 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_014253.3 -1 reviewed p.L442M 0.681 362 0.3% 395 20.8% 0 - probably_damaging(0.974) deleterious(0.03) deleterious(0.780) NULL CXorf64 100130613 genome.wustl.edu 37 X 125955325 125955325 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001122716.1 +1 validated p.T235I 0.000 418 0% 471 28.7% 0 - possibly_damaging(0.931) tolerated(0.53) neutral(0.385) NULL OCRL 4952 genome.wustl.edu 37 X 128703343 128703343 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_000276.3 +1 reviewed p.D523 1.000 249 0% 359 24.8% 6 0% - - - HMMSmart_SM00128,HMMPfam_Exo_endo_phos,superfamily_DNase I-like RAB33A 9363 genome.wustl.edu 37 X 129306243 129306243 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_004794.2 +1 reviewed p.I69 1.000 93 0% 95 20% 1 0% - - - HMMSmart_RAB,HMMPfam_Ras,superfamily_SSF52540 HS6ST2 90161 genome.wustl.edu 37 X 131762344 131762344 + Silent SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001077188.1 -1 reviewed p.R615 0.011 749 0% 736 27.6% 6 100% - - - NULL USP26 83844 genome.wustl.edu 37 X 132161660 132161660 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_031907.1 -1 reviewed p.E197* 0.000 258 0% 264 25.8% 0 - - - - NULL TFDP3 51270 genome.wustl.edu 37 X 132352254 132352254 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_016521.2 -1 reviewed p.E12K 0.424 171 0% 156 18.6% 0 - benign(0) deleterious(0.01) neutral(0.406) NULL GPC3 2719 genome.wustl.edu 37 X 132833996 132833996 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_004484.3 -1 reviewed p.D365Y 1.000 227 0% 256 24.2% 2 0% possibly_damaging(0.679) tolerated(0.09) deleterious(0.538) HMMPfam_Glypican MIR424 494336 genome.wustl.edu 37 X 133680666 133680666 + RNA SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000362227 -1 known NULL 0.602 54 0% 68 48.5% 0 - - - - - ZNF449 203523 genome.wustl.edu 37 X 134494859 134494859 + Missense_Mutation SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_152695.5 +1 reviewed p.F472C 1.000 191 0% 191 23.6% 2 50% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers LOC644717 644717 genome.wustl.edu 37 X 134772024 134772024 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 XM_002343850.1 -1 model p.E972D 0.014 8 0.000 12 0.333 0 - - - - NULL SAGE1 55511 genome.wustl.edu 37 X 134994053 134994053 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_018666.2 +1 reviewed p.K821T 0.004 90 0% 81 28.4% 0 - probably_damaging(0.962) deleterious(0.01) deleterious(0.810) NULL MMGT1 93380 genome.wustl.edu 37 X 135047286 135047286 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_173470.1 -1 provisional p.R98Q 1.000 324 0% 448 26.6% 1 100% probably_damaging(0.973) tolerated(0.05) deleterious(0.760) HMMPfam_Tmemb_32 GPR112 139378 genome.wustl.edu 37 X 135455146 135455146 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_153834.3 +1 reviewed p.A2567T 0.979 345 0% 361 19.9% 0 - possibly_damaging(0.95) deleterious(0.01) deleterious(0.799) NULL ZIC3 7547 genome.wustl.edu 37 X 136649783 136649783 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_003413.3 +1 reviewed p.A311 1.000 63 0% 55 32.7% 0 - - - - HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,superfamily_SSF57667 MCF2 4168 genome.wustl.edu 37 X 138667233 138667233 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001099855.1 -1 reviewed p.P973S 0.000 474 0% 433 22.4% 0 - benign(0.001) tolerated(0.36) neutral(0.020) NULL ATP11C 286410 genome.wustl.edu 37 X 138856925 138856925 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_173694.4 -1 validated p.R717* 1.000 450 0% 494 17.2% 0 - - - - superfamily_HAD-like MAGEC3 139081 genome.wustl.edu 37 X 140984463 140984463 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_177456.2 +1 reviewed p.R9C 0.000 327 0% 334 25.4% 0 - unknown(0) tolerated(0.08) - NULL MAGEC1 9947 genome.wustl.edu 37 X 140993798 140993798 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_005462.4 +1 reviewed p.S203N 0.989 700 0% 519 16% 0 - unknown(0) deleterious(0) - NULL SLITRK4 139065 genome.wustl.edu 37 X 142717556 142717556 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_173078.3 -1 reviewed p.E457K 1.000 127 0% 119 33.6% 1 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like UBE2NL 389898 genome.wustl.edu 37 X 142967583 142967583 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001012989.1 +1 reviewed p.V127 1.000 336 0% 493 32.9% 0 - - - - HMMPfam_UQ_con,HMMSmart_UBCc,superfamily_UBQ-conjugat/RWD-like FMR1 2332 genome.wustl.edu 37 X 147018105 147018105 + Missense_Mutation SNP A A C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_002024.5 +1 reviewed p.E321D 1.000 682 0% 822 29% 13 76.9% probably_damaging(0.995) tolerated(1) neutral(0.458) HMMSmart_SM00322,HMMPfam_KH_1,superfamily_Eukaryotic type KH-domain (KH-domain type I) AFF2 2334 genome.wustl.edu 37 X 148044460 148044460 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_002025.3 +1 reviewed p.S969L 0.992 221 0% 223 27.8% 0 - possibly_damaging(0.658) tolerated(0.06) deleterious(0.555) HMMPfam_AF-4 AFF2 2334 genome.wustl.edu 37 X 148059504 148059504 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_002025.3 +1 reviewed p.S1149L 0.998 416 0% 444 30% 1 0% possibly_damaging(0.662) deleterious(0.01) deleterious(0.640) HMMPfam_AF-4 MTM1 4534 genome.wustl.edu 37 X 149831928 149831928 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_000252.2 +1 reviewed p.S497Y 0.999 111 0% 96 19.8% 1 0% benign(0.22) deleterious(0.04) neutral(0.370) superfamily_SSF52799 PRRG3 79057 genome.wustl.edu 37 X 150869466 150869466 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_024082.3 +1 validated p.Y219 0.996 139 0% 138 25.4% 0 - - - - NULL MAGEA4 4103 genome.wustl.edu 37 X 151093032 151093032 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001011548.1 +1 reviewed p.R299H 0.001 140 0% 140 37.9% 0 - benign(0.004) tolerated(0.22) neutral(0.042) NULL GABRA3 2556 genome.wustl.edu 37 X 151336934 151336934 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_000808.3 -1 reviewed p.T415 1.000 715 0% 806 19.2% 0 - - - - HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM PNMA3 29944 genome.wustl.edu 37 X 152226304 152226304 + Silent SNP T T C novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_013364.4 +1 reviewed p.L298 0.000 178 0% 185 29.2% 0 - - - - NULL ZFP92 139735 genome.wustl.edu 37 X 152686248 152686248 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001136273.1 +1 validated p.S138L 0.000 75 0% 82 28% 0 - - - - NULL DUSP9 1852 genome.wustl.edu 37 X 152915045 152915045 + Silent SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 ENST00000433144 +1 known p.S215L 0.201 134 0% 107 23.4% 0 - - - - HMMPfam_DSPc,HMMSmart_SM00195,superfamily_(Phosphotyrosine protein) phosphatases II SLC6A8 6535 genome.wustl.edu 37 X 152958595 152958595 + Missense_Mutation SNP C C T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_005629.3 +1 reviewed p.L293F 1.000 275 0% 225 26.2% 35 0% benign(0.009) deleterious(0) neutral(0.445) HMMPfam_SNF PLXNB3 5365 genome.wustl.edu 37 X 153032621 153032621 + Silent SNP T T G novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_005393.2 +1 reviewed p.T113 0.109 48 0% 42 23.8% 1 0% - - - HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema L1CAM 3897 genome.wustl.edu 37 X 153130606 153130606 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_000425.3 -1 reviewed p.R937C 0.737 22 0% 36 16.7% 0 - benign(0.389) tolerated(0.13) neutral(0.377) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III MECP2 4204 genome.wustl.edu 37 X 153297782 153297782 + Missense_Mutation SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001110792.1 -1 reviewed p.R97C 1.000 130 0% 95 17.9% 21 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_DNA-binding_integrase-type FLNA 2316 genome.wustl.edu 37 X 153578219 153578219 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_001110556.1 -1 reviewed p.F2450L 0.966 74 0% 62 16.1% 264 0.3% probably_damaging(0.998) tolerated(0.07) deleterious(0.793) HMMSmart_SM00557,superfamily_E set domains,HMMPfam_Filamin FAM50A 9130 genome.wustl.edu 37 X 153678065 153678065 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_004699.2 +1 reviewed p.E254D 1.000 138 0% 101 22.8% 166 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_XAP5 MPP1 4354 genome.wustl.edu 37 X 154009908 154009908 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_002436.3 -1 reviewed p.Q372H 0.987 405 0% 434 30.6% 15 0% benign(0.001) tolerated(0.1) neutral(0.286) HMMPfam_Guanylate_kin,HMMSmart_SM00072,superfamily_P-loop containing nucleoside triphosphate hydrolases F8 2157 genome.wustl.edu 37 X 154185319 154185319 + Silent SNP G G A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_000132.3 -1 reviewed p.F555 0.759 492 0.2% 560 26.4% 0 - - - - superfamily_Cupredoxins VBP1 7411 genome.wustl.edu 37 X 154448519 154448519 + Missense_Mutation SNP G G T novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_003372.5 +1 reviewed p.K51N 1.000 144 0% 109 17.4% 7 0% possibly_damaging(0.628) tolerated(0.1) deleterious(0.505) superfamily_Prefoldin TMLHE 55217 genome.wustl.edu 37 X 154721240 154721240 + Missense_Mutation SNP C C A novel TCGA-B5-A11N-01A-11D-A122-09 TCGA-B5-A11N-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a90f8d20-4d17-4084-ad0f-5dc5042ca695 df73c2f3-0c35-4aec-82c4-f4ee268636f0 NM_018196.3 -1 reviewed p.D408Y 1.000 154 0% 145 11% 15 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TauD,superfamily_Clavaminate synthase-like