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 SAMD11 148398 genome.wustl.edu 37 1 879370 879370 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_152486.2 +1 validated p.P628L 0.132 25 0% 35 22.9% - - probably_damaging(0.996) deleterious(0.01) deleterious(0.867) NULL CPSF3L 54973 genome.wustl.edu 37 1 1248423 1248423 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_017871.4 -1 validated p.R375W 0.868 37 0% 30 30% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL TMEM52 339456 genome.wustl.edu 37 1 1849956 1849956 + Missense_Mutation SNP G G T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 ENST00000378602 -1 known p.L14I 0.000 14 0% 38 26.3% - - unknown(0) - - NULL LRRC47 57470 genome.wustl.edu 37 1 3701714 3701714 + Silent SNP G G T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_020710.2 -1 validated p.T377 0.978 130 0% 151 31.8% - - - - - HMMPfam_B3_4 AJAP1 55966 genome.wustl.edu 37 1 4832433 4832433 + Silent SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001042478.1 +1 validated p.S337 0.091 77 0% 141 29.1% - - - - - NULL VAMP3 9341 genome.wustl.edu 37 1 7838211 7838211 + Missense_Mutation SNP T T A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_004781.3 +1 reviewed p.F89I 0.993 261 0% 606 32.8% - - unknown(0) tolerated(0.49) - HMMPfam_Synaptobrevin PIK3CD 5293 genome.wustl.edu 37 1 9780289 9780289 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_005026.3 +1 validated p.A487T 0.002 19 0% 15 46.7% - - benign(0) tolerated(0.65) neutral(0.003) superfamily_ARM-type_fold CASZ1 54897 genome.wustl.edu 37 1 10703326 10703326 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001079843.1 -1 validated p.R1304Q 1.000 87 0% 88 31.8% - - probably_damaging(0.999) deleterious(0.03) deleterious(0.855) PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers VPS13D 55187 genome.wustl.edu 37 1 12422796 12422796 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_015378.2 +1 reviewed p.R3388* 1.000 226 0% 499 28.1% - - - - - HMMPfam_DUF1162 TMEM82 388595 genome.wustl.edu 37 1 16069585 16069585 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001013641.1 +1 provisional p.A78T 0.020 79 0% 81 27.2% - - possibly_damaging(0.513) tolerated(0.31) neutral(0.199) NULL PADI4 23569 genome.wustl.edu 37 1 17672593 17672593 + Missense_Mutation SNP A A G novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_012387.2 +1 reviewed p.I336V 0.047 190 0.5% 216 31.5% - - benign(0.006) tolerated(0.82) neutral(0.001) HMMPfam_PAD,superfamily_Pentein UBR4 23352 genome.wustl.edu 37 1 19419335 19419335 + Missense_Mutation SNP G G T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_020765.2 -1 validated p.A4730D 1.000 53 0% 85 30.6% - - benign(0.18) deleterious(0.01) neutral(0.422) superfamily_ARM repeat TMCO4 255104 genome.wustl.edu 37 1 20066400 20066400 + Missense_Mutation SNP T T C novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_181719.4 -1 validated p.I366V 1.000 90 0% 94 31.9% - - benign(0.023) tolerated(0.12) neutral(0.262) HMMPfam_DUF726 CNR2 1269 genome.wustl.edu 37 1 24201214 24201214 + Silent SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001841.2 -1 reviewed p.I298 0.998 126 0% 217 24.9% - - - - - HMMPfam_7tm_1,superfamily_SSF81321 MAN1C1 57134 genome.wustl.edu 37 1 26109127 26109127 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_020379.2 +1 validated p.V568M 1.000 235 0% 402 30.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Glyco_hydro_47,superfamily_Glyco_hydro_47 GJA4 2701 genome.wustl.edu 37 1 35260403 35260403 + Missense_Mutation SNP G G T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_002060.2 +1 reviewed p.D197Y 1.000 123 0% 122 30.3% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) PatternScan_CONNEXINS_2,HMMPfam_Connexin_CCC SH3D21 79729 genome.wustl.edu 37 1 36785948 36785948 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_024676.4 +1 validated p.R208C 0.001 16 0% 38 15.8% - - benign(0.015) tolerated(0.06) neutral(0.323) NULL KCNQ4 9132 genome.wustl.edu 37 1 41283860 41283860 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_004700.2 +1 reviewed p.G144S 1.000 115 0% 130 30% - - probably_damaging(1) tolerated(0.1) deleterious(0.786) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels SZT2 23334 genome.wustl.edu 37 1 43898024 43898024 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_015284.2 +1 predicted p.Q887* 1.000 102 0% 162 30.9% - - - - - NULL IPO13 9670 genome.wustl.edu 37 1 44422099 44422099 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_014652.3 +1 reviewed p.R310H 1.000 108 0% 175 28% - - possibly_damaging(0.559) tolerated(0.2) neutral(0.239) superfamily_ARM-type_fold RNF220 55182 genome.wustl.edu 37 1 44878147 44878147 + Silent SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_018150.2 +1 validated p.T126 0.484 120 0% 191 34% - - - - - NULL PRDX1 5052 genome.wustl.edu 37 1 45980598 45980598 + Silent SNP G G T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_002574.2 -1 reviewed p.R110 0.954 222 0% 394 23.9% - - - - - HMMPfam_AhpC-TSA,superfamily_Thioredoxin-like FAAH 2166 genome.wustl.edu 37 1 46871087 46871087 + Missense_Mutation SNP C C A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001441.2 +1 reviewed p.P163Q 0.173 98 0% 122 37.7% - - benign(0.324) tolerated(0.15) neutral(0.343) HMMPfam_Amidase,superfamily_Amidase_sig_enz BSND 7809 genome.wustl.edu 37 1 55472943 55472943 + Silent SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_057176.2 +1 reviewed p.P182 0.000 95 1.1% 165 27.9% - - - - - NULL EFCAB7 84455 genome.wustl.edu 37 1 64017408 64017408 + Missense_Mutation SNP C C A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_032437.2 +1 validated p.P320H 0.952 85 0% 282 26.6% - - benign(0.005) tolerated(0.23) neutral(0.042) NULL DEPDC1 55635 genome.wustl.edu 37 1 68948407 68948407 + Missense_Mutation SNP T T C novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001114120.1 -1 validated p.T362A 0.000 149 0% 484 24.2% - - benign(0.156) deleterious(0.04) neutral(0.363) superfamily_Rho_GAP FPGT 8790 genome.wustl.edu 37 1 74670088 74670088 + Silent SNP A A G novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_003838.2 +1 reviewed p.Q119 1.000 28 0% 118 33.1% - - - - - HMMPfam_Fucokinase PIGK 10026 genome.wustl.edu 37 1 77632457 77632457 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_005482.2 -1 reviewed p.R145Q 0.996 55 0% 125 20.8% - - probably_damaging(0.997) tolerated(0.09) deleterious(0.762) HMMPfam_Peptidase_C13 FUBP1 8880 genome.wustl.edu 37 1 78428607 78428607 + Frame_Shift_Del DEL T T - novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_003902.3 -1 reviewed p.T398fs 1.000 - - - - - - - - - HMMSmart_SM00322,HMMPfam_KH_1,superfamily_Eukaryotic type KH-domain (KH-domain type I) LRRC8B 23507 genome.wustl.edu 37 1 90050005 90050005 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001134476.1 +1 validated p.R599H 1.000 61 0% 158 24.1% - - possibly_damaging(0.685) deleterious(0.02) deleterious(0.627) superfamily_SSF52058 VCAM1 7412 genome.wustl.edu 37 1 101196853 101196853 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001078.2 +1 reviewed p.R435Q 0.051 72 0% 214 31.3% - - possibly_damaging(0.843) tolerated(0.42) neutral(0.337) HMMPfam_C2-set,superfamily_Immunoglobulin COL11A1 1301 genome.wustl.edu 37 1 103440430 103440430 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_080629.2 -1 reviewed p.G934* 1.000 77 0% 178 13.5% - - - - - HMMPfam_Collagen AMY2B 280 genome.wustl.edu 37 1 104114287 104114289 + In_Frame_Del DEL ACA ACA - novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 ACA ACA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_020978.3 +1 reviewed p.Q23in_frame_del 0.002:0.000:0.000 - - - - - - - - - superfamily_(Trans)glycosidases CELSR2 1952 genome.wustl.edu 37 1 109795138 109795138 + Missense_Mutation SNP C C A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001408.2 +1 reviewed p.P813T 1.000 102 0% 135 26.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_CA,PatternScan_CADHERIN_1,superfamily_Cadherin GPR61 83873 genome.wustl.edu 37 1 110086806 110086806 + Missense_Mutation SNP A A G novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_031936.4 +1 validated p.T388A 1.000 80 0% 103 11.7% - - possibly_damaging(0.574) deleterious(0) deleterious(0.641) NULL GNAI3 2773 genome.wustl.edu 37 1 110134773 110134773 + Missense_Mutation SNP A A G novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_006496.2 +1 validated p.D328G 1.000 178 0% 351 23.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_G-alpha,HMMSmart_SM00275,superfamily_P-loop containing nucleoside triphosphate hydrolases HSD3B1 3283 genome.wustl.edu 37 1 120057204 120057204 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_000862.2 +1 validated p.T353M 0.958 104 0% 209 24.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_NAD(P)-bd PDE4DIP 9659 genome.wustl.edu 37 1 144879043 144879043 + Silent SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_014644.4 -1 validated p.S1469 0.001 102 0% 285 11.2% - - - - - NULL PIAS3 10401 genome.wustl.edu 37 1 145581451 145581451 + Silent SNP C C A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_006099.3 +1 reviewed p.A344 1.000 210 0% 607 17.3% - - - - - HMMPfam_zf-MIZ,superfamily_SSF57850 SV2A 9900 genome.wustl.edu 37 1 149879698 149879698 + Silent SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_014849.3 -1 validated p.Y480 0.874 156 0% 386 19.2% - - - - - HMMPfam_MFS_1 ADAMTSL4 54507 genome.wustl.edu 37 1 150531616 150531616 + Missense_Mutation SNP G G T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_019032.4 +1 reviewed p.R913L 0.054 29 0% 58 17.2% - - benign(0.011) tolerated(0.36) neutral(0.021) superfamily_TSP-1 type 1 repeat RIIAD1 284485 genome.wustl.edu 37 1 151701256 151701256 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001144956.1 +1 validated p.P75S 1.000 232 0% 969 17.8% - - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_RIIa,superfamily_cAMP-dep_prot_kin_reg_I/II_a/b RORC 6097 genome.wustl.edu 37 1 151785769 151785769 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_005060.3 -1 reviewed p.R374C 1.000 248 0% 584 18.8% - - benign(0.412) deleterious(0) deleterious(0.578) HMMPfam_Hormone_recep,HMMSmart_SM00430,superfamily_Nuclear receptor ligand-binding domain RORC 6097 genome.wustl.edu 37 1 151789697 151789697 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_005060.3 -1 reviewed p.G44R 1.000 149 0% 358 15.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C4,HMMSmart_SM00399,PatternScan_NUCLEAR_REC_DBD_1,superfamily_Glucocorticoid receptor-like (DNA-binding domain) HRNR 388697 genome.wustl.edu 37 1 152193605 152193605 + Missense_Mutation SNP C C A rs12741518 byCluster;byFrequency;by1000genomes TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001009931.1 -1 validated p.G167V 0.014 121 0% 463 16% - - unknown(0) - - NULL FLG 2312 genome.wustl.edu 37 1 152282293 152282293 + Missense_Mutation SNP T T C novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_002016.1 -1 reviewed p.D1690G 0.061 309 0% 579 16.9% - - unknown(0) tolerated(0.11) - HMMPfam_Filaggrin LCE3D 84648 genome.wustl.edu 37 1 152552223 152552223 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_032563.1 -1 validated p.R64W 0.076 150 0% 381 15% - - unknown(0) - - NULL KPRP 448834 genome.wustl.edu 37 1 152733026 152733026 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001025231.1 +1 provisional p.R321H 0.003 38 0% 104 18.3% - - probably_damaging(0.977) tolerated(0.15) deleterious(0.660) NULL DENND4B 9909 genome.wustl.edu 37 1 153913034 153913034 + Silent SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_014856.2 -1 validated p.L459 0.998 64 0% 225 23.1% - - - - - HMMPfam_DENN,HMMSmart_DENN UBE2Q1 55585 genome.wustl.edu 37 1 154523956 154523956 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_017582.6 -1 reviewed p.A363T 1.000 162 0% 361 15.2% - - possibly_damaging(0.942) deleterious(0.03) deleterious(0.752) HMMPfam_UQ_con,HMMSmart_SM00212,superfamily_UBC-like DCST2 127579 genome.wustl.edu 37 1 155005958 155005958 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_144622.2 -1 validated p.R74C 0.997 34 0% 86 17.4% - - possibly_damaging(0.888) deleterious(0.04) deleterious(0.696) NULL PKLR 5313 genome.wustl.edu 37 1 155270072 155270072 + Splice_Site SNP C C A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_000298.5 -1 reviewed e2-1 1.000 38 0% 86 16.3% - - - - - - CCT3 7203 genome.wustl.edu 37 1 156280760 156280760 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_005998.3 -1 reviewed p.R461H 1.000 55 0% 136 20.6% - - probably_damaging(0.98) deleterious(0.01) deleterious(0.830) HMMPfam_Cpn60_TCP1,superfamily_GroEL-ATPase INSRR 3645 genome.wustl.edu 37 1 156813217 156813217 + Splice_Site SNP A A G novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_014215.1 -1 validated e16+2 1.000 209 0% 427 18.7% - - - - - - FCRL2 79368 genome.wustl.edu 37 1 157740422 157740422 + Silent SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_030764.3 -1 reviewed p.F29 0.734 60 0% 246 16.3% - - - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin OR10K1 391109 genome.wustl.edu 37 1 158435731 158435731 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001004473.1 +1 provisional p.C127Y 1.000 420 0% 1079 16.4% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_7tm_1,superfamily_SSF81321 VANGL2 57216 genome.wustl.edu 37 1 160385671 160385671 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_020335.1 +1 validated p.G15D 1.000 40 0% 76 17.1% - - unknown(0) tolerated(0.71) - NULL ADAMTS4 9507 genome.wustl.edu 37 1 161166610 161166610 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_005099.4 -1 reviewed p.A232T 0.935 163 0% 310 21.3% - - benign(0.018) tolerated(0.55) neutral(0.007) "HMMPfam_Reprolysin,superfamily_Metalloproteases (""zincins"") catalytic domain" NDUFS2 4720 genome.wustl.edu 37 1 161182187 161182187 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_004550.4 +1 reviewed p.A345T 0.000 204 0% 482 16.4% - - benign(0) tolerated(0.46) neutral(0.012) HMMPfam_Complex1_49kDa,superfamily_SSF56762 FCGR2A 2212 genome.wustl.edu 37 1 161475295 161475295 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001136219.1 +1 reviewed p.P13L 0.000 221 0% 584 16.1% - - probably_damaging(0.958) deleterious(0.01) deleterious(0.807) NULL NOS1AP 9722 genome.wustl.edu 37 1 162337122 162337122 + Silent SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 ENST00000454693 +1 known p.R104C 1.000 40 0% 90 16.7% - - - - - NULL F5 2153 genome.wustl.edu 37 1 169529941 169529941 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_000130.4 -1 reviewed p.R146Q 0.684 177 0% 565 19.5% - - benign(0) tolerated(0.8) neutral(0.001) superfamily_Cupredoxins C1orf112 55732 genome.wustl.edu 37 1 169811585 169811588 + Frame_Shift_Del DEL GTAT GTAT - novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 GTAT GTAT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_018186.2 +1 predicted p.C586fs 0.128:0.123:0.000:0.166 - - - - - - - - - NULL FMO2 2327 genome.wustl.edu 37 1 171162632 171162632 + Missense_Mutation SNP A A T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001460.2 +1 reviewed p.K97N 0.934 34 0% 166 19.9% - - possibly_damaging(0.935) tolerated(0.43) neutral(0.394) HMMPfam_FMO-like,superfamily_SSF51905 C1orf9 51430 genome.wustl.edu 37 1 172543036 172543036 + Missense_Mutation SNP T T C novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_014283.3 +1 validated p.V352A 1.000 66 0% 364 15.1% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) superfamily_Galactose-binding domain-like,HMMPfam_Sad1_UNC ASTN1 460 genome.wustl.edu 37 1 177001829 177001829 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_004319.1 -1 validated p.G210S 1.000 71 0% 120 20% - - possibly_damaging(0.947) deleterious(0) deleterious(0.835) NULL KIAA1614 57710 genome.wustl.edu 37 1 180905683 180905683 + Missense_Mutation SNP A A G novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_020950.1 +1 validated p.N880D 0.989 44 0% 120 20% - - possibly_damaging(0.945) tolerated(0.16) neutral(0.449) NULL CACNA1E 777 genome.wustl.edu 37 1 181680102 181680103 + Frame_Shift_Del DEL AG AG - rs147596634 by1000genomes TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_000721.2 +1 reviewed p.R360fs 1.000:1.000 - - - - - - - - - NULL ZNF648 127665 genome.wustl.edu 37 1 182026005 182026005 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001009992.1 -1 provisional p.R381C 0.567 121 0% 261 20.7% - - benign(0.081) deleterious(0) neutral(0.451) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 LAMC1 3915 genome.wustl.edu 37 1 182993092 182993092 + Missense_Mutation SNP G G C novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_002293.3 +1 reviewed p.G81R 1.000 22 0% 40 22.5% - - probably_damaging(0.992) tolerated(0.13) deleterious(0.700) HMMPfam_Laminin_N,HMMSmart_LamNT LAMC1 3915 genome.wustl.edu 37 1 183079641 183079641 + Silent SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_002293.3 +1 reviewed p.H291 0.697 155 0% 450 11.6% - - - - - HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,superfamily_SSF57196 NCF2 4688 genome.wustl.edu 37 1 183534877 183534877 + Missense_Mutation SNP G G T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_000433.3 -1 reviewed p.P321H 0.993 83 0% 281 23.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SH3 PRG4 10216 genome.wustl.edu 37 1 186276623 186276623 + Missense_Mutation SNP A A G novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_005807.3 +1 reviewed p.E591G 0.000 221 0% 993 16.3% - - unknown(0) tolerated(0.1) - NULL TPR 7175 genome.wustl.edu 37 1 186314784 186314784 + Silent SNP T T C novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_003292.2 -1 reviewed p.V1047 0.217 151 0% 618 18.3% - - - - - superfamily_Prefoldin,HMMPfam_TPR_MLP1_2 TPR 7175 genome.wustl.edu 37 1 186315397 186315397 + Missense_Mutation SNP T T C novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_003292.2 -1 reviewed p.N989S 1.000 243 0% 1134 17.8% - - benign(0) tolerated(0.91) - superfamily_Prefoldin F13B 2165 genome.wustl.edu 37 1 197030981 197030981 + Silent SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001994.2 -1 reviewed p.K128 0.014 160 0% 694 16% - - - - - HMMPfam_Sushi,HMMSmart_CCP,superfamily_Complement_control_module ASPM 259266 genome.wustl.edu 37 1 197069862 197069862 + Missense_Mutation SNP G G T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_018136.4 -1 reviewed p.A2840D 0.988 50 0% 192 15.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_P-loop containing nucleoside triphosphate hydrolases CRB1 23418 genome.wustl.edu 37 1 197404611 197404611 + Silent SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_201253.1 +1 reviewed p.Y1206 0.938 69 0% 248 18.1% - - - - - HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_EGF/Laminin KIF14 9928 genome.wustl.edu 37 1 200523689 200523689 + Missense_Mutation SNP C C A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_014875.2 -1 validated p.D1492Y 0.005 98 0% 679 15.8% - - probably_damaging(0.966) deleterious(0) deleterious(0.853) NULL LOC100288349 100288349 genome.wustl.edu 37 1 203311513 203311513 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 XM_002342128.1 +1 model p.V78I 1.000 37 0% 79 20.3% - - - - - NULL PLXNA2 5362 genome.wustl.edu 37 1 208217898 208217898 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_025179.3 -1 reviewed p.Q1277* 1.000 185 0% 436 18.6% - - - - - NULL KCNH1 3756 genome.wustl.edu 37 1 210857206 210857206 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_172362.2 -1 reviewed p.T796M 1.000 70 0% 146 19.2% - - possibly_damaging(0.931) tolerated(0.08) deleterious(0.677) NULL PTPN14 5784 genome.wustl.edu 37 1 214557189 214557189 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_005401.4 -1 reviewed p.T670M 0.996 74 0% 120 20.8% - - possibly_damaging(0.816) deleterious(0.04) deleterious(0.657) NULL DUSP10 11221 genome.wustl.edu 37 1 221912653 221912653 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_007207.3 -1 reviewed p.A145V 1.000 246 0.4% 574 18.8% - - benign(0.184) tolerated(0.11) neutral(0.289) superfamily_Rhodanese/Cell cycle control phosphatase TRIM67 440730 genome.wustl.edu 37 1 231349691 231349691 + Missense_Mutation SNP A A G novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001004342.3 +1 validated p.M752V 1.000 122 0% 254 21.3% - - benign(0) tolerated(0.05) neutral(0.345) HMMPfam_SPRY,superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00449 PCNXL2 80003 genome.wustl.edu 37 1 233121996 233121996 + Missense_Mutation SNP T T C novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_014801.3 -1 provisional p.T2028A 1.000 27 0% 60 13.3% - - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL HEATR1 55127 genome.wustl.edu 37 1 236749158 236749158 + Missense_Mutation SNP T T C novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_018072.4 -1 validated p.N671D 0.996 92 0% 569 20.4% - - possibly_damaging(0.85) deleterious(0) deleterious(0.772) NULL MTR 4548 genome.wustl.edu 37 1 237057809 237057809 + Silent SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_000254.2 +1 reviewed p.D1119 0.309 166 0% 328 15.2% - - - - - HMMPfam_Met_synt_B12,superfamily_Methionine synthase activation domain-like RYR2 6262 genome.wustl.edu 37 1 237791201 237791201 + Silent SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001035.2 +1 reviewed p.L2087 1.000 130 0% 395 15.4% - - - - - NULL GREM2 64388 genome.wustl.edu 37 1 240656440 240656442 + In_Frame_Del DEL CTT CTT - novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_022469.3 -1 reviewed p.K112in_frame_del 1.000:1.000:0.997 - - - - - - - - - HMMPfam_DAN,HMMSmart_CT HNRNPU-AS1 284702 genome.wustl.edu 37 1 245006326 245006326 + RNA SNP T T C novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NR_026778.1 -1 predicted NULL 0.002 20 0% 258 18.2% - - - - - - ZNF669 79862 genome.wustl.edu 37 1 247263788 247263788 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_024804.2 -1 validated p.T428I 0.427 236 0% 684 20% - - benign(0.044) tolerated(0.27) neutral(0.036) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 OR2L2 26246 genome.wustl.edu 37 1 248201950 248201950 + Silent SNP T T C novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001004686.2 +1 provisional p.F127 0.023 185 0% 589 15.6% - - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR2G6 391211 genome.wustl.edu 37 1 248685338 248685338 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001013355.1 +1 validated p.R131C 0.991 94 0% 221 17.2% - - probably_damaging(0.969) deleterious(0) deleterious(0.856) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR2T27 403239 genome.wustl.edu 37 1 248813408 248813408 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001001824.1 -1 provisional p.V260M 0.000 133 0% 369 45.8% - - benign(0.009) tolerated(1) neutral(0.001) HMMPfam_7tm_1,superfamily_SSF81321 PXDN 7837 genome.wustl.edu 37 2 1652913 1652913 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_012293.1 -1 validated p.R880H 1.000 20 0% 22 22.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_An_peroxidase,superfamily_Heme-dependent peroxidases PXDN 7837 genome.wustl.edu 37 2 1653182 1653182 + Silent SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_012293.1 -1 validated p.H790 0.922 102 0% 158 24.1% - - - - - HMMPfam_An_peroxidase,superfamily_Heme-dependent peroxidases KCNS3 3790 genome.wustl.edu 37 2 18112710 18112710 + Silent SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_002252.3 +1 reviewed p.S145 0.675 98 0% 262 13.4% - - - - - NULL APOB 338 genome.wustl.edu 37 2 21233606 21233606 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_000384.2 -1 reviewed p.A2045V 0.000 167 0% 468 23.3% - - benign(0.037) - - NULL CENPA 1058 genome.wustl.edu 37 2 27015674 27015674 + Silent SNP A A G novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001809.3 +1 reviewed p.Q87 1.000 223 0% 502 26.5% - - - - - HMMSmart_SM00428,HMMPfam_Histone,superfamily_Histone-fold KRTCAP3 200634 genome.wustl.edu 37 2 27666007 27666009 + In_Frame_Del DEL CTT CTT - novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_173853.3 +1 validated p.L115in_frame_del 1.000:1.000:0.987 - - - - - - - - - NULL ZNF512 84450 genome.wustl.edu 37 2 27806577 27806577 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_032434.2 +1 validated p.A28V 1.000 350 0% 862 22.6% - - possibly_damaging(0.915) deleterious(0) deleterious(0.811) NULL EHD3 30845 genome.wustl.edu 37 2 31489201 31489201 + Silent SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_014600.2 +1 validated p.A413 0.019 130 0.8% 229 24.5% - - - - - NULL GALM 130589 genome.wustl.edu 37 2 38908499 38908499 + Silent SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_138801.2 +1 reviewed p.P141 0.301 71 0% 163 22.1% - - - - - HMMPfam_Aldose_epim,superfamily_Galactose mutarotase-like DYNC2LI1 51626 genome.wustl.edu 37 2 44021769 44021769 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_016008.2 +1 validated p.P165L 0.984 199 0% 711 22.5% - - possibly_damaging(0.537) tolerated(0.35) neutral(0.202) superfamily_P-loop containing nucleoside triphosphate hydrolases LHCGR 3973 genome.wustl.edu 37 2 48915353 48915353 + Missense_Mutation SNP A A G novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_000233.3 -1 reviewed p.I528T 1.000 99 0% 332 19% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like FSHR 2492 genome.wustl.edu 37 2 49190931 49190931 + Silent SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_000145.3 -1 reviewed p.D343 0.917 401 0% 896 20.3% - - - - - superfamily_Family A G protein-coupled receptor-like NRXN1 9378 genome.wustl.edu 37 2 51254779 51254779 + Silent SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001135659.1 -1 reviewed p.S211 0.981 32 0% 32 21.9% - - - - - superfamily_ConA_like_lec_gl NRXN1 9378 genome.wustl.edu 37 2 51254919 51254919 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001135659.1 -1 reviewed p.A165T 0.432 44 0% 38 26.3% - - benign(0.002) tolerated(0.1) neutral(0.286) HMMSmart_LamG,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_2 WDPCP 51057 genome.wustl.edu 37 2 63401823 63401823 + Missense_Mutation SNP A A G novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_015910.4 -1 validated p.L687P 0.000 162 0% 554 22.4% - - benign(0) tolerated(0.09) neutral(0.296) NULL AAK1 22848 genome.wustl.edu 37 2 69736403 69736403 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_014911.3 -1 reviewed p.L656F 1.000 126 0% 309 26.9% - - probably_damaging(0.996) deleterious(0.01) deleterious(0.867) NULL ATP6V1B1 525 genome.wustl.edu 37 2 71185536 71185536 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001692.3 +1 reviewed p.P116L 1.000 132 0% 231 18.2% - - probably_damaging(0.954) deleterious(0.01) deleterious(0.803) superfamily_SSF52540 LOXL3 84695 genome.wustl.edu 37 2 74779578 74779578 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_032603.2 -1 reviewed p.R62* 0.989 30 0% 57 26.3% - - - - - HMMPfam_SRCR,HMMSmart_SR,superfamily_Srcr_receptor DOK1 1796 genome.wustl.edu 37 2 74783889 74783889 + Missense_Mutation SNP C C A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001381.2 +1 reviewed p.P365H 1.000 62 0% 136 25% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL C2orf89 129293 genome.wustl.edu 37 2 85097753 85097753 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001080824.1 -1 predicted p.D89N 1.000 93 0% 214 18.2% - - probably_damaging(1) tolerated(0.15) deleterious(0.741) NULL GNLY 10578 genome.wustl.edu 37 2 85925686 85925686 + Splice_Site SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_006433.3 +1 reviewed e5-1 0.010 168 0% 410 25.4% - - - - - - RNF103 7844 genome.wustl.edu 37 2 86839370 86839370 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_005667.2 -1 reviewed p.V132M 1.000 112 0% 415 18.1% - - possibly_damaging(0.519) deleterious(0) deleterious(0.619) NULL ANKRD36BP2 645784 genome.wustl.edu 37 2 89084442 89084442 + RNA SNP T T C novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NR_015424.1 +1 predicted NULL 0.039 19 0% 52 15.4% - - - - - - CNGA3 1261 genome.wustl.edu 37 2 99013143 99013143 + Missense_Mutation SNP A A C novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001298.2 +1 reviewed p.S504R 1.000 114 0% 240 20% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_cNMP_binding,HMMSmart_cNMP,superfamily_cNMP_binding REV1 51455 genome.wustl.edu 37 2 100037995 100037995 + Silent SNP T T C novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_016316.2 -1 reviewed p.K599 1.000 234 0% 676 21.4% - - - - - HMMPfam_IMS,superfamily_DNA/RNA polymerases TBC1D8 11138 genome.wustl.edu 37 2 101624478 101624478 + Silent SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001102426.1 -1 validated p.A1076 0.002 84 0% 230 24.3% - - - - - NULL IL18R1 8809 genome.wustl.edu 37 2 103006560 103006562 + In_Frame_Del DEL ATC ATC - novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 ATC ATC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_003855.2 +1 reviewed p.I333in_frame_del 0.988:0.853:0.005 - - - - - - - - - NULL UXS1 80146 genome.wustl.edu 37 2 106739433 106739433 + Missense_Mutation SNP A A G novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_025076.3 -1 validated p.M246T 1.000 76 0% 204 23% - - benign(0.006) tolerated(0.06) neutral(0.323) HMMPfam_Epimerase,superfamily_NAD(P)-binding Rossmann-fold domains MERTK 10461 genome.wustl.edu 37 2 112686867 112686867 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_006343.2 +1 reviewed p.V78I 0.000 186 0% 396 20.5% - - possibly_damaging(0.767) tolerated(0.36) neutral(0.304) NULL MARCO 8685 genome.wustl.edu 37 2 119739002 119739002 + Missense_Mutation SNP G G T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_006770.3 +1 reviewed p.G262C 0.482 75 0% 239 25.5% - - unknown(0) - - NULL MAP3K2 10746 genome.wustl.edu 37 2 128066248 128066248 + Frame_Shift_Del DEL G G - novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_006609.3 -1 reviewed p.T516fs 1.000 - - - - - - - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase GPR17 2840 genome.wustl.edu 37 2 128408856 128408856 + Missense_Mutation SNP C C G novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_005291.2 +1 validated p.Q211E 1.000 86 0% 111 23.4% - - benign(0.215) tolerated(1) neutral(0.021) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like POTEF 728378 genome.wustl.edu 37 2 130832557 130832557 + Missense_Mutation SNP G G T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001099771.2 -1 validated p.P830T 1.000 112 0% 165 26.1% - - probably_damaging(0.992) deleterious(0) deleterious(0.892) HMMPfam_Actin,HMMSmart_ACTIN,superfamily_SSF53067 MZT2B 80097 genome.wustl.edu 37 2 130940276 130940276 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_025029.3 +1 validated p.Q83* 1.000 49 0% 65 16.9% - - - - - NULL TMEM163 81615 genome.wustl.edu 37 2 135215636 135215636 + Missense_Mutation SNP A A C novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_030923.4 -1 validated p.L259R 1.000 102 0% 252 23% - - probably_damaging(0.998) deleterious(0.03) deleterious(0.839) NULL RAB3GAP1 22930 genome.wustl.edu 37 2 135870825 135870825 + Missense_Mutation SNP T T C novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_012233.2 +1 reviewed p.L156S 1.000 186 0% 567 22.6% - - possibly_damaging(0.826) tolerated(0.13) deleterious(0.566) NULL LRP1B 53353 genome.wustl.edu 37 2 141777555 141777555 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_018557.2 -1 validated p.R636W 1.000 92 0% 365 41.6% - - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Ldl_recept_b,superfamily_SSF63825 NEB 4703 genome.wustl.edu 37 2 152419150 152419150 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_004543.4 -1 reviewed p.R4588Q 0.997 121 0.8% 316 23.7% - - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Nebulin,HMMSmart_SM00227 CSRNP3 80034 genome.wustl.edu 37 2 166535645 166535645 + Silent SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_024969.3 +1 validated p.E380 0.978 99 0% 267 22.5% - - - - - NULL SCN1A 6323 genome.wustl.edu 37 2 166912997 166912997 + Silent SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_006920.4 -1 reviewed p.L133 1.000 102 0% 392 24.7% - - - - - superfamily_SSF81324 DCAF17 80067 genome.wustl.edu 37 2 172309715 172309715 + Missense_Mutation SNP A A G novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_025000.3 +1 reviewed p.N207D 0.994 115 0% 398 25.9% - - benign(0) - - NULL OSBPL6 114880 genome.wustl.edu 37 2 179201131 179201131 + Missense_Mutation SNP A A G novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_145739.1 +1 reviewed p.D233G 1.000 111 0% 272 19.1% - - possibly_damaging(0.763) deleterious(0.04) deleterious(0.632) NULL TTN 7273 genome.wustl.edu 37 2 179403429 179403429 + Missense_Mutation SNP T T C novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 ENST00000356127 -1 known p.S30473G 1.000 240 0% 687 24% - - probably_damaging(0.985) - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179438798 179438798 + Silent SNP T T G novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 ENST00000356127 -1 known p.R21451 1.000 134 0% 341 19.1% - - - - - NULL TTN 7273 genome.wustl.edu 37 2 179526525 179526525 + Missense_Mutation SNP A A G novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 ENST00000392423 -1 known p.S636P 0.000 29 0% 94 29.8% - - unknown(0) tolerated(0.33) - NULL TTN 7273 genome.wustl.edu 37 2 179634515 179634515 + Silent SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_133379.3 -1 reviewed p.V2931 0.988 138 0% 362 19.6% - - - - - HMMSmart_IG,HMMPfam_I-set,superfamily_SSF48726 COL5A2 1290 genome.wustl.edu 37 2 189927763 189927763 + Silent SNP T T C novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_000393.3 -1 reviewed p.A632 0.999 110 0% 394 19.3% - - - - - HMMPfam_Collagen SLC39A10 57181 genome.wustl.edu 37 2 196545579 196545579 + Silent SNP T T C novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001127257.1 +1 validated p.R271 0.974 112 0% 271 16.6% - - - - - NULL GTF3C3 9330 genome.wustl.edu 37 2 197657762 197657764 + In_Frame_Del DEL TCC TCC - novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 TCC TCC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_012086.2 -1 provisional p.E111in_frame_del 0.984:0.986:0.955 - - - - - - - - - NULL AOX1 316 genome.wustl.edu 37 2 201477429 201477429 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001159.3 +1 reviewed p.G454D 0.080 144 0% 338 19.2% - - benign(0) tolerated(0.56) neutral(0.006) HMMPfam_CO_deh_flav_C,superfamily_CO dehydrogenase flavoprotein C-terminal domain-like NRP2 8828 genome.wustl.edu 37 2 206617692 206617692 + Silent SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_201266.1 +1 reviewed p.T679 0.000 53 0% 175 21.1% - - - - - HMMPfam_MAM,HMMSmart_SM00137 MAP2 4133 genome.wustl.edu 37 2 210560405 210560405 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_002374.3 +1 reviewed p.V1171M 0.507 57 0% 184 16.8% - - possibly_damaging(0.462) deleterious(0) deleterious(0.596) HMMPfam_MAP2_projctn MYL1 4632 genome.wustl.edu 37 2 211158526 211158526 + Splice_Site SNP T T C novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_079420.2 -1 reviewed e5-2 1.000 176 0% 500 20.2% - - - - - - ABCA12 26154 genome.wustl.edu 37 2 215831578 215831578 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_173076.2 -1 reviewed p.R1960* 0.979 246 0% 750 22.9% - - - - - NULL SLC11A1 6556 genome.wustl.edu 37 2 219254676 219254676 + Silent SNP C C A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_000578.3 +1 reviewed p.S293 0.042 179 0% 351 23.6% - - - - - HMMPfam_Nramp CCDC108 255101 genome.wustl.edu 37 2 219888778 219888778 + Missense_Mutation SNP T T C novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_194302.2 -1 provisional p.T852A 0.000 106 0% 205 14.1% - - benign(0.001) tolerated(0.72) neutral(0.002) superfamily_PapD-like SLC23A3 151295 genome.wustl.edu 37 2 220029960 220029960 + Silent SNP G G A rs144528370 by1000genomes TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001144890.1 -1 validated p.A374 0.888 30 0% 51 29.4% - - - - - HMMPfam_Xan_ur_permease CNPPD1 27013 genome.wustl.edu 37 2 220037594 220037594 + Missense_Mutation SNP A A G novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_015680.4 -1 validated p.L316P 0.246 50 0% 173 21.4% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL ABCB6 10058 genome.wustl.edu 37 2 220080884 220080884 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_005689.1 -1 reviewed p.R330H 1.000 66 0% 84 15.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain DES 1674 genome.wustl.edu 37 2 220284873 220284873 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001927.3 +1 reviewed p.R212Q 1.000 172 0.6% 316 28.2% - - probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_Filament OBSL1 23363 genome.wustl.edu 37 2 220422770 220422770 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_015311.2 -1 reviewed p.E1189K 1.000 40 0% 49 16.3% - - probably_damaging(0.993) deleterious(0.05) deleterious(0.795) HMMSmart_IGc2,HMMPfam_ig,superfamily_SSF48726 EPHA4 2043 genome.wustl.edu 37 2 222347180 222347180 + Missense_Mutation SNP G G T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_004438.3 -1 reviewed p.L404I 1.000 237 0% 558 24% - - benign(0.26) tolerated(0.2) neutral(0.076) HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like CCDC140 151278 genome.wustl.edu 37 2 223168917 223168917 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_153038.1 +1 validated p.S99L 0.000 47 0% 98 15.3% - - unknown(0) - - NULL COL4A4 1286 genome.wustl.edu 37 2 227907810 227907810 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_000092.4 -1 reviewed p.G1127E 1.000 27 0% 72 31.9% - - unknown(0) deleterious(0) - HMMPfam_Collagen AGFG1 3267 genome.wustl.edu 37 2 228416726 228416726 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001135187.1 +1 reviewed p.P501L 1.000 115 0% 292 21.6% - - benign(0.032) deleterious(0.05) neutral(0.347) NULL ALPI 248 genome.wustl.edu 37 2 233323651 233323651 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001631.3 +1 reviewed p.R461H 0.998 37 0% 42 23.8% - - probably_damaging(0.995) tolerated(0.09) deleterious(0.754) HMMPfam_Alk_phosphatase,HMMSmart_SM00098,superfamily_Alkaline phosphatase-like KCNJ13 3769 genome.wustl.edu 37 2 233635683 233635683 + Silent SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_002242.4 -1 reviewed p.D130 1.000 140 0% 396 25.8% - - - - - HMMPfam_IRK,superfamily_Voltage-gated potassium channels OTOS 150677 genome.wustl.edu 37 2 241079486 241079486 + Missense_Mutation SNP C C A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_148961.3 -1 validated p.E26D 0.962 76 0% 179 23.5% - - benign(0) tolerated(0.39) neutral(0.016) NULL KIF1A 547 genome.wustl.edu 37 2 241662026 241662026 + Silent SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 ENST00000431776 -1 known p.P336L 0.740 25 0% 29 27.6% - - - - - NULL KIF1A 547 genome.wustl.edu 37 2 241697894 241697894 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_004321.4 -1 reviewed p.R813Q 1.000 94 0% 158 31.6% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL CNTN4 152330 genome.wustl.edu 37 3 3076375 3076375 + Missense_Mutation SNP C C A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_175607.1 +1 reviewed p.L615I 1.000 90 0% 187 24.6% - - possibly_damaging(0.681) deleterious(0.05) deleterious(0.589) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III LRRN1 57633 genome.wustl.edu 37 3 3887558 3887558 + Silent SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_020873.5 +1 validated p.K411 0.987 96 0% 209 27.8% - - - - - HMMPfam_LRRCT,HMMSmart_LRRCT,superfamily_SSF52058 BHLHE40 8553 genome.wustl.edu 37 3 5025186 5025186 + Missense_Mutation SNP G G C novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_003670.2 +1 reviewed p.V350L 0.004 275 0% 402 27.4% - - benign(0) tolerated(1) - NULL THRB 7068 genome.wustl.edu 37 3 24169079 24169079 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_000461.4 -1 reviewed p.A352V 1.000 116 0% 240 26.7% - - probably_damaging(0.996) tolerated(0.38) deleterious(0.479) HMMPfam_Hormone_recep,HMMSmart_SM00430,superfamily_Nuclear receptor ligand-binding domain ITGA9 3680 genome.wustl.edu 37 3 37547525 37547525 + Silent SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_002207.2 +1 reviewed p.P259 0.000 143 0% 239 28% - - - - - HMMSmart_Int_alpha,superfamily_SSF69318 KBTBD5 131377 genome.wustl.edu 37 3 42727916 42727916 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_152393.2 +1 validated p.R269Q 0.996 71 0% 87 25.3% - - benign(0.08) tolerated(0.16) neutral(0.065) NULL C3orf77 375337 genome.wustl.edu 37 3 44283757 44283757 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001145030.1 +1 validated p.A71V 0.001 32 0% 41 34.1% - - benign(0.231) tolerated(0.23) neutral(0.065) NULL FYCO1 79443 genome.wustl.edu 37 3 45996853 45996853 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_024513.2 -1 validated p.A1278T 0.886 123 0% 266 34.2% - - probably_damaging(0.998) deleterious(0.03) deleterious(0.839) NULL FYCO1 79443 genome.wustl.edu 37 3 46005881 46005881 + Silent SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_024513.2 -1 validated p.A1072 0.000 128 0% 185 24.9% - - - - - NULL MAP4 4134 genome.wustl.edu 37 3 47957816 47957816 + Missense_Mutation SNP C C A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_002375.4 -1 reviewed p.G501C 0.000 308 0% 457 28.7% - - unknown(0) deleterious(0) - NULL CDC25A 993 genome.wustl.edu 37 3 48200932 48200932 + Nonsense_Mutation SNP T T A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001789.2 -1 reviewed p.R446* 0.912 121 0% 231 27.7% - - - - - HMMPfam_Rhodanese,HMMSmart_SM00450,superfamily_Rhodanese/Cell cycle control phosphatase WDR6 11180 genome.wustl.edu 37 3 49050943 49050943 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_018031.3 +1 reviewed p.S689L 1.000 279 0% 315 27% - - probably_damaging(0.995) deleterious(0) deleterious(0.902) superfamily_WD40 repeat-like GRM2 2912 genome.wustl.edu 37 3 51743007 51743007 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_000839.3 +1 reviewed p.S3L 0.917 126 0% 127 24.4% - - benign(0.04) deleterious(0.02) neutral(0.386) NULL FAM116A 201627 genome.wustl.edu 37 3 57614073 57614073 + Splice_Site SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_152678.2 -1 validated e20-1 1.000 210 0% 336 27.7% - - - - - - CNTN3 5067 genome.wustl.edu 37 3 74414774 74414774 + Silent SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_020872.1 -1 validated p.S342 0.972 141 1.4% 253 28.9% - - - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin COL8A1 1295 genome.wustl.edu 37 3 99514394 99514394 + Frame_Shift_Del DEL T T - novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001850.3 +1 reviewed p.G551fs 0.009 - - - - - - - - - HMMPfam_Collagen NIT2 56954 genome.wustl.edu 37 3 100067690 100067690 + Silent SNP T T C novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_020202.4 +1 validated p.T183 0.821 217 0% 407 26.8% - - - - - superfamily_Ntlse/CNhydtse KIAA1407 57577 genome.wustl.edu 37 3 113775350 113775350 + Missense_Mutation SNP A A T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 ENST00000483766 -1 known p.C13S 0.000 88 0% 150 30% - - unknown(0) - - NULL ZBTB20 26137 genome.wustl.edu 37 3 114070605 114070605 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_015642.4 -1 validated p.T34M 1.000 46 2.2% 54 29.6% - - possibly_damaging(0.898) deleterious(0) deleterious(0.799) HMMSmart_BTB,superfamily_BTB/POZ_fold,HMMPfam_BTB POLQ 10721 genome.wustl.edu 37 3 121178992 121178992 + Missense_Mutation SNP T T G novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_199420.3 -1 validated p.N2353H 1.000 116 0% 217 28.1% - - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_DNA_pol_A,HMMSmart_SM00482,superfamily_DNA/RNA polymerases KALRN 8997 genome.wustl.edu 37 3 124352727 124352727 + Missense_Mutation SNP C C G novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001024660.3 +1 reviewed p.P1831R 1.000 144 0% 317 31.9% - - probably_damaging(0.982) deleterious(0.04) deleterious(0.775) NULL COL6A6 131873 genome.wustl.edu 37 3 130287292 130287292 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001102608.1 +1 provisional p.G749S 1.000 219 0% 426 27.9% - - benign(0.12) - - HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like PCCB 5096 genome.wustl.edu 37 3 135979127 135979127 + Missense_Mutation SNP C C A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 ENST00000468777 +1 known p.P132H 0.007 12 0% 50 28% - - benign(0) deleterious(0) neutral(0.445) HMMPfam_Carboxyl_trans HLTF 6596 genome.wustl.edu 37 3 148789388 148789388 + Silent SNP A A G novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_003071.3 -1 reviewed p.H228 0.964 121 0% 558 30.1% - - - - - NULL CP 1356 genome.wustl.edu 37 3 148927028 148927028 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_000096.3 -1 reviewed p.E251K 0.936 225 0% 590 26.3% - - possibly_damaging(0.525) tolerated(0.26) neutral(0.211) HMMPfam_Cu-oxidase,superfamily_Cupredoxins TM4SF1 4071 genome.wustl.edu 37 3 149093505 149093505 + Missense_Mutation SNP C C A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_014220.2 -1 reviewed p.G77C 0.989 146 0% 207 12.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_L6_membrane P2RY12 64805 genome.wustl.edu 37 3 151055973 151055973 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_022788.3 -1 reviewed p.V221I 0.001 77 0% 216 25.9% - - possibly_damaging(0.812) tolerated(0.46) neutral(0.318) HMMPfam_7tm_1,superfamily_SSF81321 MED12L 116931 genome.wustl.edu 37 3 151129263 151129263 + Silent SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_053002.4 +1 reviewed p.S2001 0.015 88 0% 161 36.6% - - - - - NULL MBNL1 4154 genome.wustl.edu 37 3 152018007 152018007 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_207293.1 +1 validated p.R9W 1.000 73 0% 163 16% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL SOX2 6657 genome.wustl.edu 37 3 181430802 181430802 + Silent SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_003106.2 +1 reviewed p.N218 1.000 34 0% 32 28.1% - - - - - NULL MCF2L2 23101 genome.wustl.edu 37 3 182897208 182897208 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_015078.2 -1 validated p.A1102V 0.001 74 0% 118 39% - - possibly_damaging(0.607) tolerated(0.49) neutral(0.221) NULL DVL3 1857 genome.wustl.edu 37 3 183885769 183885769 + Silent SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_004423.3 +1 reviewed p.L472 1.000 193 0% 200 31% - - - - - HMMPfam_DEP,HMMSmart_DEP,superfamily_SSF46785 TP63 8626 genome.wustl.edu 37 3 189604298 189604298 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_003722.4 +1 reviewed p.A489T 1.000 152 0% 269 27.5% - - benign(0) tolerated(0.09) neutral(0.296) NULL HES1 3280 genome.wustl.edu 37 3 193854483 193854483 + Silent SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_005524.2 +1 reviewed p.L62 1.000 133 0% 302 16.2% - - - - - HMMPfam_HLH,HMMSmart_HLH,superfamily_HLH_basic MUC4 4585 genome.wustl.edu 37 3 195512724 195512724 + Missense_Mutation SNP G G C novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_018406.5 -1 reviewed p.D1909E 0.000 1260 0% 1902 11% - - possibly_damaging(0.748) - - NULL MFI2 4241 genome.wustl.edu 37 3 196733446 196733446 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_005929.4 -1 reviewed p.V638M 0.970 139 0% 178 21.9% - - possibly_damaging(0.887) deleterious(0.04) deleterious(0.696) HMMPfam_Transferrin,HMMSmart_SM00094,superfamily_Periplasmic binding protein-like II TBC1D14 57533 genome.wustl.edu 37 4 6925395 6925395 + Silent SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001113361.1 +1 validated p.S93 0.001 32 0% 46 28.3% - - - - - NULL GPR125 166647 genome.wustl.edu 37 4 22449072 22449072 + Missense_Mutation SNP A A G novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_145290.2 -1 validated p.L179S 1.000 18 0% 159 24.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_L domain-like KIAA1239 57495 genome.wustl.edu 37 4 37447374 37447374 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001144990.1 +1 validated p.A1255V 1.000 68 0% 146 34.2% - - benign(0.135) tolerated(0.3) neutral(0.040) superfamily_WD40_like KIAA1239 57495 genome.wustl.edu 37 4 37447442 37447442 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001144990.1 +1 validated p.V1278I 1.000 71 0% 177 16.4% - - possibly_damaging(0.892) tolerated(0.45) neutral(0.363) superfamily_WD40_like CHRNA9 55584 genome.wustl.edu 37 4 40337853 40337853 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_017581.2 +1 reviewed p.T25M 0.944 213 0% 426 28.9% - - possibly_damaging(0.66) deleterious(0) deleterious(0.677) NULL CORIN 10699 genome.wustl.edu 37 4 47667181 47667181 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_006587.2 -1 reviewed p.S486F 1.000 108 0% 313 28.1% - - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) superfamily_Frizzled cysteine-rich domain,HMMPfam_Fz,HMMSmart_SM00063 ZAR1 326340 genome.wustl.edu 37 4 48496229 48496229 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_175619.1 +1 provisional p.D415N 1.000 140 0% 255 28.2% - - probably_damaging(0.999) tolerated(0.07) deleterious(0.809) NULL LRRC66 339977 genome.wustl.edu 37 4 52861860 52861860 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001024611.1 -1 provisional p.R443H 0.001 125 0% 253 23.7% - - benign(0.002) tolerated(0.22) neutral(0.042) NULL PDGFRA 5156 genome.wustl.edu 37 4 55140718 55140718 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_006206.4 +1 reviewed p.V527M 1.000 329 0% 518 27.6% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL PDCL2 132954 genome.wustl.edu 37 4 56448305 56448305 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_152401.2 -1 reviewed p.R36C 1.000 372 0% 727 31.2% - - possibly_damaging(0.732) tolerated(0.05) deleterious(0.613) HMMPfam_Phosducin,superfamily_Thiordxn-like_fd EXOC1 55763 genome.wustl.edu 37 4 56766049 56766049 + Missense_Mutation SNP A A G novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001024924.1 +1 reviewed p.N779S 1.000 35 0% 183 24.6% - - probably_damaging(0.987) deleterious(0.01) deleterious(0.842) HMMPfam_Sec3 UGT2B15 7366 genome.wustl.edu 37 4 69512891 69512891 + Missense_Mutation SNP G G C novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001076.2 -1 validated p.I508M 0.000 230 0% 495 25.5% - - benign(0.004) deleterious(0.01) neutral(0.406) HMMPfam_UDPGT WDFY3 23001 genome.wustl.edu 37 4 85678244 85678244 + Missense_Mutation SNP A A T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_014991.4 -1 reviewed p.F1753L 1.000 167 0% 342 24.6% - - benign(0.001) tolerated(0.8) neutral(0.001) NULL KLHL8 57563 genome.wustl.edu 37 4 88091730 88091730 + Missense_Mutation SNP A A G novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_020803.3 -1 validated p.Y416H 1.000 87 0% 197 32% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain KLHL8 57563 genome.wustl.edu 37 4 88099656 88099656 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_020803.3 -1 validated p.R357* 1.000 130 1.5% 365 30.1% - - - - - HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain HSD17B11 51170 genome.wustl.edu 37 4 88303471 88303471 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_016245.3 -1 validated p.A85V 0.993 176 0% 354 26.8% - - benign(0.005) tolerated(0.16) neutral(0.059) HMMPfam_adh_short,superfamily_NAD(P)-binding Rossmann-fold domains ATOH1 474 genome.wustl.edu 37 4 94750131 94750131 + Silent SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_005172.1 +1 reviewed p.D18 1.000 30 0% 44 27.3% - - - - - NULL ENPEP 2028 genome.wustl.edu 37 4 111397917 111397917 + Frame_Shift_Del DEL C C - novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001977.3 +1 validated p.T116fs 0.683 - - - - - - - - - HMMPfam_Peptidase_M1,superfamily_Leukotriene A4 hydrolase N-terminal domain TNIP3 79931 genome.wustl.edu 37 4 122071336 122071336 + Silent SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001128843.1 -1 validated p.S177 0.000 134 0% 298 29.2% - - - - - NULL EXOSC9 5393 genome.wustl.edu 37 4 122723901 122723901 + Missense_Mutation SNP T T A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001034194.1 +1 validated p.F78L 1.000 117 0% 409 30.3% - - benign(0.035) tolerated(0.06) neutral(0.325) HMMPfam_RNase_PH,superfamily_Ribosomal_S5_D2-typ_fold PCDH10 57575 genome.wustl.edu 37 4 134071459 134071459 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_032961.1 +1 reviewed p.T55M 1.000 83 0% 154 24.7% - - possibly_damaging(0.913) tolerated(0.13) deleterious(0.617) HMMSmart_SM00112,HMMPfam_Cadherin_2,superfamily_Cadherin-like OTUD4 54726 genome.wustl.edu 37 4 146064538 146064538 + Silent SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001102653.1 -1 reviewed p.E489 0.999 152 0% 366 23.8% - - - - - NULL TTC29 83894 genome.wustl.edu 37 4 147858772 147858772 + Missense_Mutation SNP T T G novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_031956.2 -1 validated p.K50N 1.000 148 0% 395 31.4% - - probably_damaging(0.98) deleterious(0) deleterious(0.869) NULL TLL1 7092 genome.wustl.edu 37 4 166915626 166915626 + Missense_Mutation SNP G G C novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_012464.3 +1 reviewed p.R152T 1.000 80 0% 241 29.5% - - probably_damaging(1) deleterious(0.03) deleterious(0.865) "superfamily_Metalloproteases (""zincins"") catalytic domain" TLL1 7092 genome.wustl.edu 37 4 166915627 166915627 + Missense_Mutation SNP A A T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_012464.3 +1 reviewed p.R152S 1.000 82 0% 241 29.5% - - probably_damaging(1) deleterious(0.03) deleterious(0.865) "superfamily_Metalloproteases (""zincins"") catalytic domain" HELT 391723 genome.wustl.edu 37 4 185941873 185941873 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001029887.1 +1 provisional p.A311T 0.851 40 0% 37 24.3% - - benign(0) tolerated(0.23) neutral(0.042) NULL ADCY2 108 genome.wustl.edu 37 5 7520914 7520914 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_020546.2 +1 reviewed p.A158T 1.000 193 0% 278 31.3% - - probably_damaging(0.953) tolerated(0.13) deleterious(0.649) NULL MARCH6 10299 genome.wustl.edu 37 5 10391780 10391782 + In_Frame_Del DEL GAC GAC - novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 GAC GAC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_005885.2 +1 provisional p.D235in_frame_del 1.000:1.000:0.996 - - - - - - - - - NULL DNAH5 1767 genome.wustl.edu 37 5 13736026 13736026 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001369.2 -1 reviewed p.S3824N 1.000 62 0% 122 31.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ZSWIM6 57688 genome.wustl.edu 37 5 60768594 60768594 + Missense_Mutation SNP T T A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_020928.1 +1 provisional p.C255S 1.000 127 0% 221 29% - - probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_SWIM PIK3R1 5295 genome.wustl.edu 37 5 67591111 67591137 + In_Frame_Del DEL AGACCTTATCCAGCTGAGAAAGACGAG AGACCTTATCCAGCTGAGAAAGACGAG - novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 AGACCTTATCCAGCTGAGAAAGACGAG AGACCTTATCCAGCTGAGAAAGACGAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_181523.1 +1 reviewed p.LIQLRKTRD570in_frame_del 0.152:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.996:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.999:0.016:0.975:1.000 - - - - - - - - - NULL ZNF366 167465 genome.wustl.edu 37 5 71743089 71743089 + Silent SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_152625.1 -1 provisional p.E560 0.925 203 0% 403 29.8% - - - - - NULL ZNF366 167465 genome.wustl.edu 37 5 71756629 71756629 + Missense_Mutation SNP A A G novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_152625.1 -1 provisional p.V232A 1.000 147 0% 205 26.8% - - probably_damaging(0.972) deleterious(0.04) deleterious(0.763) NULL BTF3 689 genome.wustl.edu 37 5 72798825 72798825 + Missense_Mutation SNP A A G novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001037637.1 +1 reviewed p.I134V 1.000 57 0% 94 31.9% - - benign(0.006) tolerated(0.6) neutral(0.004) HMMPfam_NAC MAN2A1 4124 genome.wustl.edu 37 5 109153095 109153095 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_002372.2 +1 reviewed p.A689T 1.000 178 0% 370 28.6% - - possibly_damaging(0.68) tolerated(0.21) neutral(0.286) superfamily_Gal_mut_like,HMMPfam_Glyco_hydro_38C FTMT 94033 genome.wustl.edu 37 5 121187726 121187726 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_177478.1 +1 validated p.R23H 0.000 13 0% 18 50% - - possibly_damaging(0.593) deleterious(0.05) deleterious(0.550) NULL SEC24A 10802 genome.wustl.edu 37 5 134002682 134002682 + Silent SNP A A G novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_021982.1 +1 validated p.Q245 1.000 75 0% 139 19.4% - - - - - NULL NDUFA2 4695 genome.wustl.edu 37 5 140026926 140026926 + Silent SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_002488.4 -1 reviewed p.Y41 0.788 130 0% 199 34.7% - - - - - HMMPfam_L51_S25_CI-B8 ZMAT2 153527 genome.wustl.edu 37 5 140085390 140085391 + Frame_Shift_Ins INS - - GT novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 ENST00000515493 +1 known p.C158fs 0.977:0.999 - - - - - - - - - NULL PCDHA3 56145 genome.wustl.edu 37 5 140182337 140182337 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_018906.2 +1 reviewed p.A519T 0.998 76 0% 70 17.1% - - possibly_damaging(0.936) deleterious(0) deleterious(0.826) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHA3 56145 genome.wustl.edu 37 5 140182638 140182638 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_018906.2 +1 reviewed p.R619H 0.945 125 0% 110 32.7% - - benign(0.074) tolerated(0.09) neutral(0.301) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHB12 56124 genome.wustl.edu 37 5 140590646 140590646 + Missense_Mutation SNP G G T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_018932.3 +1 reviewed p.G723C 0.000 45 0% 98 21.4% - - probably_damaging(0.997) deleterious(0.04) deleterious(0.815) NULL PCDHB18 54660 genome.wustl.edu 37 5 140615334 140615334 + Missense_Mutation SNP T T G novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 ENST00000274705 +1 known p.L350R 0.228 56 0% 85 27.1% - - - - - HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHGB6 56100 genome.wustl.edu 37 5 140789345 140789345 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_018926.2 +1 reviewed p.R526C 0.989 27 0% 35 28.6% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGA10 56106 genome.wustl.edu 37 5 140794355 140794355 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_018913.2 +1 reviewed p.A538V 0.998 229 0% 256 31.2% - - possibly_damaging(0.715) tolerated(0.11) deleterious(0.530) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGA12 26025 genome.wustl.edu 37 5 140812048 140812048 + Silent SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_003735.2 +1 reviewed p.G574 0.223 82 0% 96 20.8% - - - - - superfamily_Cadherin-like SPINK5 11005 genome.wustl.edu 37 5 147513446 147513446 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001127698.1 +1 reviewed p.P1091L 0.000 121 0% 239 23.4% - - benign(0) deleterious(0.04) neutral(0.349) NULL HTR4 3360 genome.wustl.edu 37 5 147889472 147889472 + Missense_Mutation SNP A A G novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001040173.2 -1 reviewed p.M208T 1.000 184 0% 332 27.7% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_7tm_1,superfamily_SSF81321 TNIP1 10318 genome.wustl.edu 37 5 150425460 150425460 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_006058.3 -1 validated p.E300K 0.994 126 0% 175 31.4% - - benign(0.315) tolerated(0.06) neutral(0.421) NULL CYFIP2 26999 genome.wustl.edu 37 5 156741377 156741377 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001037332.2 +1 validated p.S379N 1.000 99 0% 144 31.9% - - benign(0.001) tolerated(0.5) neutral(0.010) HMMPfam_FragX_IP CYFIP2 26999 genome.wustl.edu 37 5 156788557 156788557 + Missense_Mutation SNP G G T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001037332.2 +1 validated p.R997M 1.000 139 0% 258 17.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_FragX_IP ATP10B 23120 genome.wustl.edu 37 5 160033864 160033864 + Missense_Mutation SNP C C T rs184625643 by1000genomes TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_025153.2 -1 validated p.R1023Q 1.000 127 0% 216 25.5% - - possibly_damaging(0.905) tolerated(0.36) neutral(0.380) superfamily_HAD-like TLX3 30012 genome.wustl.edu 37 5 170738524 170738524 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_021025.2 +1 provisional p.S266L 1.000 67 0% 75 28% - - probably_damaging(0.989) deleterious(0) deleterious(0.884) NULL FBXW11 23291 genome.wustl.edu 37 5 171303394 171303394 + Silent SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_012300.2 -1 reviewed p.T351 0.001 117 0% 166 13.3% - - - - - superfamily_WD40 repeat-like B4GALT7 11285 genome.wustl.edu 37 5 177031305 177031305 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_007255.2 +1 reviewed p.R59Q 0.002 13 0% 15 40% - - benign(0) tolerated(0.64) neutral(0.003) HMMPfam_Galactosyl_T_2,superfamily_Nucleotide-diphospho-sugar transferases PROP1 5626 genome.wustl.edu 37 5 177419920 177419920 + Silent SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_006261.4 -1 reviewed p.Y157 0.068 448 0% 688 28.3% - - - - - NULL BTNL8 79908 genome.wustl.edu 37 5 180335654 180335654 + Missense_Mutation SNP T T C novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001040462.2 +1 validated p.C40R 0.061 179 0.6% 247 30.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin NRSN1 140767 genome.wustl.edu 37 6 24146106 24146106 + Splice_Site SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 ENST00000378477 +1 known e2+2 1.000 78 0% 200 23.5% - - - - - - KIAA0319 9856 genome.wustl.edu 37 6 24596139 24596139 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_014809.3 -1 reviewed p.Q255* 0.060 156 0% 209 33.5% - - - - - NULL HIST1H2AD 3013 genome.wustl.edu 37 6 26199364 26199364 + Silent SNP G G C novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_021065.2 -1 reviewed p.R36 0.995 93 0% 144 30.6% - - - - - HMMSmart_H2A,HMMPfam_Histone,superfamily_Histone-fold HIST1H2AG 8969 genome.wustl.edu 37 6 27101200 27101200 + Missense_Mutation SNP T T C novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_021064.4 +1 reviewed p.L117P 1.000 175 0% 260 24.2% - - probably_damaging(0.985) deleterious(0) deleterious(0.877) HMMSmart_SM00414,superfamily_Histone-fold PACSIN1 29993 genome.wustl.edu 37 6 34499432 34499432 + Missense_Mutation SNP A A C novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_020804.2 +1 validated p.S365R 1.000 31 0% 51 27.5% - - benign(0.123) deleterious(0.04) neutral(0.359) NULL LHFPL5 222662 genome.wustl.edu 37 6 35773479 35773479 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_182548.3 +1 reviewed p.A11V 1.000 129 0% 111 19.8% - - probably_damaging(0.991) deleterious(0.01) deleterious(0.850) NULL COX6A1P2 285849 genome.wustl.edu 37 6 37012697 37012697 + Missense_Mutation SNP G G C novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 ENST00000423336 +1 known p.G21A 0.428 71 0% 90 26.7% - - benign(0.003) tolerated(0.57) neutral(0.006) NULL FOXP4 116113 genome.wustl.edu 37 6 41557716 41557716 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001012426.1 +1 reviewed p.G389S 0.863 63 0% 111 38.7% - - benign(0) tolerated(1) - NULL PRICKLE4 29964 genome.wustl.edu 37 6 41751967 41751967 + Missense_Mutation SNP G G T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_013397.5 +1 validated p.Q77H 0.999 226 0% 365 23.3% - - probably_damaging(1) tolerated(0.39) deleterious(0.516) HMMPfam_PET CUL9 23113 genome.wustl.edu 37 6 43180997 43180997 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_015089.2 +1 validated p.Q1775* 1.000 167 0% 212 29.2% - - - - - HMMPfam_Cullin,superfamily_Cullin homology domain CUL9 23113 genome.wustl.edu 37 6 43189010 43189010 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_015089.2 +1 validated p.R2235C 1.000 77 0% 70 27.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00647,superfamily_RING/U-box COL19A1 1310 genome.wustl.edu 37 6 70859907 70859907 + Silent SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001858.4 +1 reviewed p.K669 1.000 104 0% 227 27.8% - - - - - HMMPfam_Collagen KCNQ5 56479 genome.wustl.edu 37 6 73830276 73830276 + Missense_Mutation SNP C C A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_019842.3 +1 reviewed p.A399D 1.000 82 0% 135 25.9% - - possibly_damaging(0.891) tolerated(0.14) deleterious(0.600) NULL DOPEY1 23033 genome.wustl.edu 37 6 83847825 83847825 + Missense_Mutation SNP G G A rs142639349 by1000genomes TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_015018.2 +1 validated p.R1355Q 1.000 58 0% 206 14.6% - - possibly_damaging(0.902) tolerated(0.2) neutral(0.406) NULL ME1 4199 genome.wustl.edu 37 6 84140648 84140648 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_002395.4 -1 reviewed p.R9H 0.997 82 0% 105 35.2% - - benign(0.001) tolerated(0.53) neutral(0.007) superfamily_SSF53223 AIM1 202 genome.wustl.edu 37 6 107001426 107001427 + Frame_Shift_Del DEL AG AG - novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001624.2 +1 validated p.R1449fs 1.000:1.000 - - - - - - - - - HMMPfam_Crystall,HMMSmart_XTALbg,superfamily_G_crystallin_SF FIG4 9896 genome.wustl.edu 37 6 110086338 110086338 + Missense_Mutation SNP T T A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_014845.5 +1 reviewed p.N519K 1.000 171 0% 397 26.7% - - benign(0) tolerated(1) - NULL DDO 8528 genome.wustl.edu 37 6 110729595 110729595 + Missense_Mutation SNP G G T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_003649.2 -1 reviewed p.L103I 0.298 237 0% 522 27.8% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_DAO,superfamily_Nucleotide-binding domain HS3ST5 222537 genome.wustl.edu 37 6 114378678 114378678 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_153612.3 -1 validated p.P262S 1.000 233 0% 546 28.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sulfotransfer_1,superfamily_P-loop containing nucleoside triphosphate hydrolases RSPH4A 345895 genome.wustl.edu 37 6 116948817 116948817 + Missense_Mutation SNP T T C novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001010892.2 +1 reviewed p.M316T 0.982 162 0% 409 26.9% - - possibly_damaging(0.688) tolerated(0.09) deleterious(0.542) HMMPfam_Radial_spoke RFX6 222546 genome.wustl.edu 37 6 117246619 117246619 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_173560.2 +1 validated p.A561V 1.000 55 0% 161 28% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL STX7 8417 genome.wustl.edu 37 6 132789613 132789613 + Missense_Mutation SNP G G T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_003569.2 -1 validated p.A180D 1.000 131 0% 390 25.4% - - benign(0.358) deleterious(0.04) neutral(0.462) HMMPfam_SNARE,HMMSmart_SM00397,PatternScan_SYNTAXIN,superfamily_t-snare proteins NHSL1 57224 genome.wustl.edu 37 6 138752679 138752680 + In_Frame_Ins INS - - AGG novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001144060.1 -1 validated p.934in_frame_insP 0.004:0.111 - - - - - - - - - NULL PHACTR2 9749 genome.wustl.edu 37 6 144033296 144033296 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001100164.1 +1 validated p.D64N 1.000 82 0% 285 26.3% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL RPS6KA2 6196 genome.wustl.edu 37 6 166827395 166827395 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001006932.1 -1 reviewed p.V663M 0.962 124 0% 183 29.5% - - benign(0.035) deleterious(0.04) neutral(0.351) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase RPS6KA2 6196 genome.wustl.edu 37 6 166833421 166833421 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001006932.1 -1 reviewed p.A598V 1.000 110 0% 160 25.6% - - benign(0.024) tolerated(0.13) neutral(0.254) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase FRMD1 79981 genome.wustl.edu 37 6 168479719 168479719 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_024919.3 -1 validated p.T19M 0.006 59 0% 63 33.3% - - probably_damaging(1) - - NULL TRA2A 29896 genome.wustl.edu 37 7 23545408 23545410 + In_Frame_Del DEL ATA ATA - novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 ATA ATA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_013293.3 -1 reviewed p.Y265in_frame_del 0.993:1.000:1.000 - - - - - - - - - NULL HOXA4 3201 genome.wustl.edu 37 7 27169063 27169063 + Silent SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_002141.4 -1 reviewed p.I248 1.000 311 0% 475 28.4% - - - - - HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like,PatternScan_HOMEOBOX_1 LOC100288050 100288050 genome.wustl.edu 37 7 37990043 37990043 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 XM_002342700.1 -1 model p.R28C 0.000 29 0% 72 30.6% - - - - - NULL GLI3 2737 genome.wustl.edu 37 7 42004738 42004738 + Silent SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_000168.5 -1 reviewed p.G1311 0.002 32 0% 55 36.4% - - - - - NULL HECW1 23072 genome.wustl.edu 37 7 43547615 43547615 + Splice_Site SNP A A G novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_015052.3 +1 validated e21-2 1.000 150 0.7% 237 34.6% - - - - - - NUDCD3 23386 genome.wustl.edu 37 7 44467203 44467203 + Silent SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_015332.3 -1 reviewed p.V203 1.000 183 0% 235 24.3% - - - - - superfamily_HSP20_chap,HMMPfam_CS POM121L12 285877 genome.wustl.edu 37 7 53103949 53103949 + Silent SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_182595.3 +1 validated p.P195 0.000 50 0% 84 34.5% - - - - - NULL SEPT14 346288 genome.wustl.edu 37 7 55910764 55910766 + In_Frame_Del DEL TTC TTC - novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 TTC TTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_207366.2 -1 validated p.E143in_frame_del 0.996:1.000:1.000 - - - - - - - - - HMMPfam_Septin,superfamily_P-loop containing nucleoside triphosphate hydrolases LOC100132308 100132308 genome.wustl.edu 37 7 63020586 63020586 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 XM_001715240.2 +1 model p.A246T 1.000 137 0% 140 12.9% - - - - - HMMPfam_Nucleoside_tran POM121 9883 genome.wustl.edu 37 7 72412793 72412793 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_172020.1 +1 reviewed p.A489V 0.000 296 0% 415 27.2% - - possibly_damaging(0.748) deleterious(0.01) deleterious(0.680) NULL POM121 9883 genome.wustl.edu 37 7 72413592 72413592 + Silent SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_172020.1 +1 reviewed p.A755 0.023 110 0% 173 20.8% - - - - - NULL AKAP9 10142 genome.wustl.edu 37 7 91671392 91671393 + Frame_Shift_Del DEL AG AG - novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_005751.4 +1 reviewed p.R1654fs 1.000:1.000 - - - - - - - - - NULL KRIT1 889 genome.wustl.edu 37 7 91830071 91830071 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_004912.3 -1 reviewed p.M730I 1.000 166 0% 460 31.7% - - benign(0.006) tolerated(0.14) neutral(0.249) NULL ERVW-1 30816 genome.wustl.edu 37 7 92098739 92098739 + Silent SNP G G T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_014590.3 -1 reviewed p.P319 0.186 348 0% 643 28.8% - - - - - HMMPfam_TLV_coat LMTK2 22853 genome.wustl.edu 37 7 97823769 97823769 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_014916.3 +1 reviewed p.R1331Q 1.000 75 0% 119 35.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL FBXO24 26261 genome.wustl.edu 37 7 100189484 100189484 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_033506.2 +1 reviewed p.R173W 0.997 90 0% 125 24.8% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL ZAN 7455 genome.wustl.edu 37 7 100373123 100373123 + Silent SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_003386.1 +1 reviewed p.R1984 0.001 99 0% 115 17.4% - - unknown(0) tolerated(0.41) - NULL EMID2 136227 genome.wustl.edu 37 7 101063336 101063336 + Silent SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 ENST00000397927 +1 known p.V79 0.986 45 0% 38 23.7% - - - - - HMMPfam_EMI IMMP2L 83943 genome.wustl.edu 37 7 110603623 110603623 + Splice_Site SNP T T C novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_032549.2 -1 provisional e3-2 0.998 84 0% 279 23.3% - - - - - - FLNC 2318 genome.wustl.edu 37 7 128488684 128488684 + Silent SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001458.4 +1 reviewed p.N1550 0.917 159 0% 131 26.7% - - - - - HMMSmart_SM00557,superfamily_E set domains,HMMPfam_Filamin SLC13A4 26266 genome.wustl.edu 37 7 135387595 135387595 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_012450.2 -1 validated p.E210K 0.988 83 0% 146 26% - - benign(0) tolerated(0.8) neutral(0.001) HMMPfam_Na_sulph_symp BRAF 673 genome.wustl.edu 37 7 140453134 140453134 + Missense_Mutation SNP T T C rs121913364 byCluster TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_004333.4 -1 reviewed p.K601E 1.000 136 0% 418 31.1% - - probably_damaging(0.975) tolerated(0.19) neutral(0.466) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase TRBV4-2 28616 genome.wustl.edu 37 7 142045656 142045656 + Missense_Mutation SNP C C G novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 ENST00000390392 +1 known p.L62V 0.001 166 0% 399 21.1% - - possibly_damaging(0.899) tolerated(0.23) neutral(0.397) HMMPfam_V-set,superfamily_SSF48726 OR2A7 401427 genome.wustl.edu 37 7 143956013 143956013 + Missense_Mutation SNP A A C novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001005328.1 -1 provisional p.F237V 1.000 436 0% 1039 12.5% - - possibly_damaging(0.46) deleterious(0) deleterious(0.596) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like CNTNAP2 26047 genome.wustl.edu 37 7 147600793 147600793 + Silent SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_014141.5 +1 reviewed p.C745 0.217 68 0% 118 26.3% - - - - - superfamily_Concanavalin A-like lectins/glucanases ZNF212 7988 genome.wustl.edu 37 7 148947474 148947474 + Silent SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_012256.2 +1 reviewed p.A83 0.969 143 0% 194 26.8% - - - - - NULL ZNF746 155061 genome.wustl.edu 37 7 149172425 149172425 + Missense_Mutation SNP A A G novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_152557.4 -1 validated p.W329R 0.996 59 0% 83 31.3% - - possibly_damaging(0.496) tolerated(0.83) neutral(0.166) NULL ABCB8 11194 genome.wustl.edu 37 7 150739142 150739142 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_007188.3 +1 reviewed p.A571V 1.000 81 0% 85 18.8% - - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_ABC_tran,HMMSmart_AAA,superfamily_SSF52540 MLL3 58508 genome.wustl.edu 37 7 151875025 151875025 + Missense_Mutation SNP T T C novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_170606.2 -1 reviewed p.I2505V 1.000 97 0% 196 27.6% - - benign(0.031) - - NULL CLN8 2055 genome.wustl.edu 37 8 1719507 1719507 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_018941.3 +1 reviewed p.A96V 0.059 166 0% 273 12.5% - - benign(0.001) tolerated(1) - HMMPfam_TRAM_LAG1_CLN8,HMMSmart_TLC ARHGEF10 9639 genome.wustl.edu 37 8 1857536 1857536 + Silent SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_014629.2 +1 reviewed p.D681 0.015 134 0% 169 29.6% - - - - - superfamily_SSF50729 TNKS 8658 genome.wustl.edu 37 8 9605703 9605703 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_003747.2 +1 validated p.T938M 1.000 62 0% 105 21% - - probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_Ank,superfamily_Ankyrin repeat RP1L1 94137 genome.wustl.edu 37 8 10469626 10469626 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_178857.5 -1 validated p.P661L 0.000 52 0% 77 36.4% - - possibly_damaging(0.847) deleterious(0.03) deleterious(0.690) NULL EFHA2 286097 genome.wustl.edu 37 8 16963070 16963070 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_181723.2 +1 validated p.R412C 1.000 105 0% 235 29.4% - - possibly_damaging(0.948) deleterious(0.02) deleterious(0.774) superfamily_SSF47473 SLC18A1 6570 genome.wustl.edu 37 8 20036894 20036894 + Missense_Mutation SNP G G T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001135691.2 -1 validated p.P76T 0.000 152 0% 259 34.7% - - benign(0.007) tolerated(0.42) neutral(0.014) HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter POLR3D 661 genome.wustl.edu 37 8 22106055 22106055 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001722.2 +1 reviewed p.A183V 1.000 97 0% 131 29.8% - - probably_damaging(0.996) tolerated(0.24) deleterious(0.499) NULL LOXL2 4017 genome.wustl.edu 37 8 23225618 23225618 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_002318.2 -1 reviewed p.V83M 1.000 39 0% 52 21.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SRCR,HMMSmart_SR,superfamily_Srcr_receptor DOCK5 80005 genome.wustl.edu 37 8 25156478 25156478 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_024940.6 +1 validated p.D209N 1.000 154 0% 379 28.5% - - benign(0.067) tolerated(0.34) neutral(0.028) NULL DOCK5 80005 genome.wustl.edu 37 8 25230228 25230228 + Silent SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 ENST00000444569 +1 known p.R998C 0.093 121 0% 192 17.7% - - - - - NULL EPHX2 2053 genome.wustl.edu 37 8 27358479 27358479 + Silent SNP A A C novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001979.4 +1 reviewed p.P46 0.000 100 0% 233 28.3% - - - - - HMMPfam_Hydrolase,superfamily_SSF56784 EPHX2 2053 genome.wustl.edu 37 8 27398157 27398157 + Missense_Mutation SNP A A G novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001979.4 +1 reviewed p.K455E 0.994 125 0% 207 30% - - benign(0.009) deleterious(0.04) neutral(0.349) HMMPfam_Abhydrolase_1,superfamily_SSF53474 LYN 4067 genome.wustl.edu 37 8 56864617 56864617 + Missense_Mutation SNP T T C novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_002350.2 +1 validated p.Y194H 1.000 152 0% 374 31% - - probably_damaging(0.958) deleterious(0) deleterious(0.846) HMMPfam_SH2,HMMSmart_SM00252,superfamily_SH2 domain ARFGEF1 10565 genome.wustl.edu 37 8 68170430 68170430 + Silent SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_006421.3 -1 reviewed p.F777 1.000 147 0% 320 29.4% - - - - - HMMPfam_Sec7,HMMSmart_Sec7,superfamily_Sec7,superfamily_ARM-type_fold ZFHX4 79776 genome.wustl.edu 37 8 77620056 77620056 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_024721.4 +1 validated p.A930T 1.000 162 0% 327 27.5% - - benign(0.135) - - HMMSmart_SM00451,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers SLC10A5 347051 genome.wustl.edu 37 8 82606130 82606130 + Silent SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001010893.2 -1 validated p.L360 0.984 96 0% 253 24.9% - - - - - NULL DPY19L4 286148 genome.wustl.edu 37 8 95732230 95732230 + Missense_Mutation SNP G G T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_181787.2 +1 validated p.A2S 1.000 35 0% 37 18.9% - - benign(0.007) deleterious(0) neutral(0.445) NULL KCNS2 3788 genome.wustl.edu 37 8 99441254 99441254 + Silent SNP C C A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_020697.2 +1 provisional p.T349 1.000 159 0% 238 26.1% - - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels VPS13B 157680 genome.wustl.edu 37 8 100515121 100515121 + Missense_Mutation SNP T T C novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_017890.3 +1 reviewed p.V1367A 0.998 200 0% 609 30.4% - - possibly_damaging(0.751) deleterious(0) deleterious(0.720) NULL VPS13B 157680 genome.wustl.edu 37 8 100844879 100844879 + Missense_Mutation SNP A A G novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_017890.3 +1 reviewed p.R3230G 1.000 22 0% 62 27.4% - - possibly_damaging(0.929) deleterious(0.03) deleterious(0.740) NULL LRP12 29967 genome.wustl.edu 37 8 105509486 105509486 + Missense_Mutation SNP G G C novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_013437.4 -1 reviewed p.R432G 1.000 104 0% 273 28.9% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMSmart_SM00192,superfamily_LDL receptor-like module ASAP1 50807 genome.wustl.edu 37 8 131104231 131104231 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_018482.2 -1 validated p.A854T 1.000 142 0.7% 267 29.6% - - benign(0.001) tolerated(1) - NULL LRRC6 23639 genome.wustl.edu 37 8 133584642 133584642 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_012472.3 -1 provisional p.T438I 0.000 598 0% 1268 25.7% - - benign(0.009) tolerated(0.2) neutral(0.050) NULL PTP4A3 11156 genome.wustl.edu 37 8 142432360 142432360 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_032611.1 +1 reviewed p.P7L 0.997 118 0% 141 32.6% - - benign(0.009) deleterious(0.03) neutral(0.365) HMMPfam_Y_phosphatase JRK 8629 genome.wustl.edu 37 8 143746535 143746535 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001077527.1 -1 reviewed p.V315I 0.003 43 0% 51 35.3% - - - - - HMMPfam_DDE LYPD2 137797 genome.wustl.edu 37 8 143833840 143833840 + Silent SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_205545.1 -1 provisional p.A10 0.021 48 0% 71 25.4% - - - - - NULL EEF1D 1936 genome.wustl.edu 37 8 144671743 144671743 + Missense_Mutation SNP A A G novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001130053.1 -1 reviewed p.F170S 0.904 45 0% 42 21.4% - - benign(0.252) deleterious(0) deleterious(0.471) NULL SCRIB 23513 genome.wustl.edu 37 8 144885673 144885673 + Silent SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_182706.3 -1 validated p.N1161 1.000 11 0.000 9 0.667 - - - - - HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like MFSD3 113655 genome.wustl.edu 37 8 145735792 145735792 + Silent SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_138431.1 +1 provisional p.G244 0.005 168 0% 226 13.3% - - - - - HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter ADAMTSL1 92949 genome.wustl.edu 37 9 18889697 18889697 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001040272.4 +1 validated p.R1532C 0.951 32 0% 50 14% - - probably_damaging(0.992) deleterious(0) deleterious(0.892) HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat DENND4C 55667 genome.wustl.edu 37 9 19346071 19346071 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_017925.4 +1 provisional p.A817T 1.000 151 0% 478 23% - - probably_damaging(1) tolerated(0.2) deleterious(0.549) NULL DDX58 23586 genome.wustl.edu 37 9 32493801 32493801 + Silent SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_014314.3 -1 reviewed p.L127 0.000 76 0% 255 31% - - - - - superfamily_P-loop containing nucleoside triphosphate hydrolases TAF1L 138474 genome.wustl.edu 37 9 32633671 32633671 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_153809.2 -1 provisional p.R636H 1.000 357 0% 641 30.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL TESK1 7016 genome.wustl.edu 37 9 35608233 35608233 + Missense_Mutation SNP T T C novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_006285.2 +1 reviewed p.I291T 1.000 253 0% 433 23.6% - - possibly_damaging(0.808) tolerated(0.42) neutral(0.318) superfamily_Kinase_like MSMP 692094 genome.wustl.edu 37 9 35754030 35754030 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001044264.1 -1 provisional p.G33* 1.000 102 0% 159 35.2% - - - - - NULL VPS13A 23230 genome.wustl.edu 37 9 79968532 79968532 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_033305.2 +1 reviewed p.E2543* 1.000 57 0% 167 32.3% - - - - - NULL FAM75C1 441452 genome.wustl.edu 37 9 90537137 90537137 + Missense_Mutation SNP G G T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001145124.1 +1 validated p.G772V 0.113 90 0% 156 28.8% - - - - - NULL SECISBP2 79048 genome.wustl.edu 37 9 91973099 91973099 + Silent SNP A A G novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_024077.3 +1 reviewed p.P818 0.939 148 0% 276 22.1% - - - - - NULL HSD17B3 3293 genome.wustl.edu 37 9 99060705 99060705 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_000197.1 -1 reviewed p.S65L 0.014 70 0% 138 28.3% - - benign(0.07) deleterious(0) neutral(0.450) HMMPfam_adh_short,superfamily_NAD(P)-binding Rossmann-fold domains PPP3R2 5535 genome.wustl.edu 37 9 104357055 104357055 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_147180.2 -1 provisional p.R53H 0.992 62 0% 114 30.7% - - benign(0.008) deleterious(0.02) neutral(0.383) HMMSmart_EFh,superfamily_SSF47473 ZNF462 58499 genome.wustl.edu 37 9 109690271 109690271 + Missense_Mutation SNP C C A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_021224.4 +1 validated p.L1360I 0.876 93 0% 108 14.8% - - possibly_damaging(0.791) tolerated(0.15) deleterious(0.537) superfamily_beta-sandwich domain of Sec23/24 LPAR1 1902 genome.wustl.edu 37 9 113704258 113704258 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001401.3 -1 reviewed p.R79H 1.000 80 0% 168 25.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like SUSD1 64420 genome.wustl.edu 37 9 114873997 114873997 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 ENST00000374263 -1 known p.V370M 0.124 437 0% 693 29.9% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL ORM2 5005 genome.wustl.edu 37 9 117093904 117093904 + Missense_Mutation SNP T T C novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_000608.2 +1 reviewed p.M129T 0.004 149 0% 245 10.6% - - possibly_damaging(0.504) deleterious(0) deleterious(0.613) HMMPfam_Lipocalin,superfamily_Lipocalins GSN 2934 genome.wustl.edu 37 9 124088906 124088906 + Silent SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_000177.4 +1 reviewed p.S562 0.526 28 0% 46 21.7% - - - - - superfamily_Actin depolymerizing proteins LHX6 26468 genome.wustl.edu 37 9 124979492 124979492 + Silent SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_014368.3 -1 reviewed p.N179 0.998 53 0% 94 35.1% - - - - - HMMPfam_LIM,HMMSmart_LIM,PatternScan_LIM_DOMAIN_1,superfamily_SSF57716 RC3H2 54542 genome.wustl.edu 37 9 125621156 125621156 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001100588.1 -1 validated p.A692V 1.000 175 0.6% 267 16.5% - - possibly_damaging(0.888) tolerated(0.12) deleterious(0.608) NULL TOR2A 27433 genome.wustl.edu 37 9 130496708 130496708 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001085347.1 -1 validated p.G96D 1.000 28 0% 41 43.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00382,HMMPfam_Torsin,superfamily_P-loop containing nucleoside triphosphate hydrolases ST6GALNAC6 30815 genome.wustl.edu 37 9 130653119 130653119 + Silent SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_013443.3 -1 provisional p.R167 1.000 161 0% 195 30.3% - - - - - HMMPfam_Glyco_transf_29 FUBP3 8939 genome.wustl.edu 37 9 133493282 133493282 + Missense_Mutation SNP G G T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_003934.1 +1 validated p.Q222H 1.000 197 0% 293 30.4% - - probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMSmart_SM00322,HMMPfam_KH_1,superfamily_Eukaryotic type KH-domain (KH-domain type I) TTF1 7270 genome.wustl.edu 37 9 135277918 135277918 + Silent SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_007344.2 -1 validated p.D97 0.000 238 0.4% 526 30% - - - - - NULL ABCA2 20 genome.wustl.edu 37 9 139911378 139911378 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_212533.2 -1 reviewed p.H948Y 1.000 36 0% 42 23.8% - - probably_damaging(0.996) tolerated(0.13) deleterious(0.714) NULL FUT7 2529 genome.wustl.edu 37 9 139926162 139926162 + Missense_Mutation SNP C C T rs112623317 TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_004479.3 -1 reviewed p.R10Q 0.011 22 0% 37 18.9% - - benign(0.009) tolerated(0.35) neutral(0.021) HMMPfam_Glyco_transf_10 ARRDC1 92714 genome.wustl.edu 37 9 140508786 140508786 + Silent SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_152285.2 +1 validated p.D218 0.997 56 0% 81 29.6% - - - - - HMMPfam_Arrestin_C,superfamily_Ig_E-set DIP2C 22982 genome.wustl.edu 37 10 518430 518430 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_014974.2 -1 reviewed p.R73C 0.932 241 0% 302 26.8% - - possibly_damaging(0.912) deleterious(0.03) deleterious(0.728) HMMPfam_DMAP_binding PRKCQ 5588 genome.wustl.edu 37 10 6528025 6528025 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_006257.2 -1 reviewed p.A291V 1.000 89 0% 155 29% - - benign(0.175) tolerated(0.24) neutral(0.053) NULL CELF2 10659 genome.wustl.edu 37 10 11047357 11047357 + Missense_Mutation SNP T T C novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001025077.2 +1 reviewed p.C3R 1.000 489 0% 1077 22.4% - - possibly_damaging(0.604) tolerated(0.15) neutral(0.451) NULL SEPHS1 22929 genome.wustl.edu 37 10 13361236 13361236 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_012247.3 -1 reviewed p.R362H 1.000 280 0% 506 28.5% - - benign(0) deleterious(0.02) neutral(0.383) HMMPfam_AIRS_C,superfamily_PurM C-terminal domain-like PRPF18 8559 genome.wustl.edu 37 10 13639505 13639505 + Missense_Mutation SNP G G T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_003675.3 +1 reviewed p.E38D 0.999 102 0% 414 28.7% - - benign(0.113) tolerated(0.18) neutral(0.065) NULL FRMD4A 55691 genome.wustl.edu 37 10 13699056 13699056 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_018027.3 -1 validated p.A845T 1.000 9 0.000 10 0.500 - - benign(0.002) tolerated(0.43) neutral(0.013) NULL MLLT10 8028 genome.wustl.edu 37 10 21903785 21903787 + In_Frame_Del DEL GAA GAA - novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 GAA GAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_004641.2 +1 validated p.E181in_frame_del 1.000:1.000:1.000 - - - - - - - - - HMMSmart_PHD FZD8 8325 genome.wustl.edu 37 10 35929593 35929593 + Silent SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_031866.2 -1 reviewed p.G255 0.996 19 0% 15 46.7% - - - - - NULL ZNF33B 7582 genome.wustl.edu 37 10 43089373 43089373 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_006955.1 -1 provisional p.S342L 0.303 199 0% 404 29.2% - - probably_damaging(0.984) tolerated(0.16) deleterious(0.490) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 RET 5979 genome.wustl.edu 37 10 43608369 43608369 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_020975.4 +1 reviewed p.V573M 0.980 153 0% 186 26.9% - - possibly_damaging(0.56) tolerated(0.07) deleterious(0.510) NULL ZFAND4 93550 genome.wustl.edu 37 10 46159128 46159128 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001128324.1 -1 validated p.G16R 1.000 137 0% 328 30.5% - - probably_damaging(0.998) tolerated(0.06) deleterious(0.797) NULL C10orf53 282966 genome.wustl.edu 37 10 50916497 50916497 + Missense_Mutation SNP C C A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_182554.2 +1 validated p.S103Y 0.001 149 0% 295 28.1% - - possibly_damaging(0.539) - - NULL OGDHL 55753 genome.wustl.edu 37 10 50966551 50966551 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_018245.2 -1 validated p.R30C 0.005 48 0% 56 21.4% - - benign(0) deleterious(0.01) neutral(0.406) NULL FAM13C 220965 genome.wustl.edu 37 10 61112178 61112178 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 ENST00000442566 -1 known p.A81V 0.000 92 0% 186 15.6% - - benign(0) tolerated(1) - NULL RHOBTB1 9886 genome.wustl.edu 37 10 62648837 62648837 + Missense_Mutation SNP T T C novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_014836.4 -1 reviewed p.K197E 1.000 92 0% 257 28.4% - - benign(0.378) deleterious(0.05) neutral(0.466) HMMSmart_RHO,HMMPfam_Ras,superfamily_SSF52540 MYPN 84665 genome.wustl.edu 37 10 69918338 69918338 + Missense_Mutation SNP A A C novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_032578.2 +1 validated p.E471D 1.000 114 0% 408 23.5% - - possibly_damaging(0.772) tolerated(0.25) neutral(0.324) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin POLR3A 11128 genome.wustl.edu 37 10 79745861 79745861 + Silent SNP T T C novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_007055.3 -1 validated p.K986 1.000 300 0% 792 30.2% - - - - - HMMPfam_RNA_pol_Rpb1_5,superfamily_SSF64484 ZMIZ1 57178 genome.wustl.edu 37 10 80968135 80968135 + Silent SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_020338.3 +1 validated p.L35 1.000 132 0% 182 29.7% - - - - - NULL PTEN 5728 genome.wustl.edu 37 10 89692964 89692964 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 ENST00000371953 +1 known p.E150* 1.000 135 0% 321 55.8% - - - - - HMMPfam_DSPc,HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II KIF20B 9585 genome.wustl.edu 37 10 91479179 91479179 + Missense_Mutation SNP T T C novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_016195.2 +1 validated p.C480R 0.916 28 0% 75 21.3% - - benign(0.119) tolerated(0.28) neutral(0.041) HMMPfam_Kinesin,HMMSmart_SM00129 HECTD2 143279 genome.wustl.edu 37 10 93247526 93247526 + Silent SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_182765.3 +1 validated p.N394 1.000 64 0% 326 26.4% - - - - - NULL HPSE2 60495 genome.wustl.edu 37 10 100995363 100995363 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_021828.4 -1 reviewed p.S66N 1.000 191 0% 342 14% - - benign(0) tolerated(0.31) neutral(0.027) NULL ADRA2A 150 genome.wustl.edu 37 10 112837959 112837959 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_000681.3 +1 reviewed p.V69I 1.000 44 0% 57 29.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like VWA2 340706 genome.wustl.edu 37 10 116046128 116046128 + Frame_Shift_Del DEL G G - novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_198496.1 +1 provisional p.G477fs 1.000 - - - - - - - - - HMMPfam_VWA,HMMSmart_VWA,superfamily_SSF53300 DHX32 55760 genome.wustl.edu 37 10 127526857 127526859 + In_Frame_Del DEL TCT TCT - novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 TCT TCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_018180.2 -1 reviewed p.K660in_frame_del 0.998:1.000:1.000 - - - - - - - - - HMMPfam_DUF1605 FOXI2 399823 genome.wustl.edu 37 10 129535890 129535890 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_207426.2 +1 validated p.A118V 1.000 52 0% 42 26.2% - - probably_damaging(0.987) deleterious(0.01) deleterious(0.842) HMMPfam_Fork_head,HMMSmart_FH,superfamily_SSF46785 PPP2R2D 55844 genome.wustl.edu 37 10 133761123 133761123 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 ENST00000455566 +1 known p.R273W 1.000 88 0% 200 22% - - probably_damaging(0.986) deleterious(0) deleterious(0.879) HMMSmart_SM00320,superfamily_WD40 repeat-like B4GALNT4 338707 genome.wustl.edu 37 11 372934 372934 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_178537.4 +1 validated p.P144L 1.000 51 0% 39 30.8% - - unknown(0) deleterious(0.02) - HMMPfam_PA14,HMMSmart_PA14 PHRF1 57661 genome.wustl.edu 37 11 608849 608849 + Silent SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_020901.2 +1 validated p.R1130 0.003 28 0% 28 25% - - - - - NULL EPS8L2 64787 genome.wustl.edu 37 11 721349 721349 + Silent SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_022772.3 +1 reviewed p.E255 0.970 23 0% 40 30% - - - - - NULL SLC22A18AS 5003 genome.wustl.edu 37 11 2909797 2909797 + Silent SNP G G T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_007105.2 -1 validated p.I125 0.465 101 0% 112 35.7% - - - - - NULL DCHS1 8642 genome.wustl.edu 37 11 6654187 6654187 + Silent SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_003737.2 -1 reviewed p.L852 1.000 106 0% 176 34.1% - - - - - HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin KCNJ11 3767 genome.wustl.edu 37 11 17408599 17408599 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_000525.3 -1 reviewed p.R347H 1.000 165 0% 189 30.2% - - probably_damaging(0.976) deleterious(0.05) deleterious(0.763) HMMPfam_IRK,superfamily_Ig_E-set ENSG00000189332 0 genome.wustl.edu 37 11 18231324 18231324 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 ENST00000340135 +1 known p.S37N 0.583 43 0% 112 33% - - benign(0.021) tolerated(0.66) neutral(0.004) superfamily_Mitochondrial carrier SAA1 6288 genome.wustl.edu 37 11 18291383 18291383 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_000331.4 +1 reviewed p.G117D 0.870 218 0% 301 35.9% - - benign(0.172) tolerated(0.06) neutral(0.338) HMMPfam_SAA,HMMSmart_SM00197 GTF2H1 2965 genome.wustl.edu 37 11 18361120 18361120 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001142307.1 +1 validated p.R175W 1.000 311 0% 561 34.4% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL PTPN5 84867 genome.wustl.edu 37 11 18751321 18751321 + Silent SNP G G T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_006906.1 -1 validated p.S458 0.997 65 0% 130 30% - - - - - HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II ANO3 63982 genome.wustl.edu 37 11 26547199 26547199 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_031418.2 +1 validated p.T237I 1.000 303 0% 1035 29.4% - - benign(0.031) tolerated(0.13) neutral(0.254) NULL ABTB2 25841 genome.wustl.edu 37 11 34226142 34226142 + Missense_Mutation SNP T T C novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_145804.1 -1 provisional p.T141A 1.000 87 0% 91 18.7% - - possibly_damaging(0.513) tolerated(0.15) neutral(0.413) NULL RAG1 5896 genome.wustl.edu 37 11 36595105 36595105 + Missense_Mutation SNP A A C novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_000448.2 +1 reviewed p.H84P 0.001 45 0% 83 32.5% - - benign(0.119) deleterious(0.03) neutral(0.374) NULL C11orf94 143678 genome.wustl.edu 37 11 45928166 45928166 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001080446.2 -1 validated p.R84Q 0.965 75 0% 91 34.1% - - probably_damaging(0.975) deleterious(0) deleterious(0.861) NULL LRP4 4038 genome.wustl.edu 37 11 46886063 46886063 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_002334.3 -1 reviewed p.A1727T 0.632 95 0% 204 18.1% - - benign(0.003) tolerated(0.21) neutral(0.044) NULL OR4C6 219432 genome.wustl.edu 37 11 55432733 55432733 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001004704.1 +1 provisional p.V31I 0.000 208 0% 534 23.2% - - benign(0) tolerated(0.4) neutral(0.016) superfamily_Family A G protein-coupled receptor-like OR8U1 219417 genome.wustl.edu 37 11 56143713 56143713 + Missense_Mutation SNP T T C novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001005204.1 +1 provisional p.I205T 0.013 396 0% 588 25.7% - - benign(0.064) tolerated(0.13) neutral(0.257) HMMPfam_7tm_1,superfamily_SSF81321 OR5M8 219484 genome.wustl.edu 37 11 56258494 56258494 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001005282.1 -1 provisional p.A118V 1.000 89 0% 186 33.3% - - benign(0.142) deleterious(0) neutral(0.457) HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like MS4A1 931 genome.wustl.edu 37 11 60231776 60231776 + Missense_Mutation SNP T T A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_021950.3 +1 reviewed p.S99T 1.000 181 0% 475 28.6% - - probably_damaging(0.998) tolerated(0.05) deleterious(0.820) HMMPfam_CD20 MS4A8B 83661 genome.wustl.edu 37 11 60482506 60482506 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_031457.1 +1 reviewed p.A183T 0.000 164 0% 261 33% - - benign(0.117) tolerated(0.15) neutral(0.251) HMMPfam_CD20 SCGB1D2 10647 genome.wustl.edu 37 11 62010815 62010815 + Missense_Mutation SNP T T G novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_006551.3 +1 reviewed p.I37S 0.000 250 0% 481 26.4% - - benign(0.025) tolerated(0.83) neutral(0.002) HMMPfam_Uteroglobin,HMMSmart_UTG,superfamily_Secretoglobin C11orf48 79081 genome.wustl.edu 37 11 62437211 62437212 + Frame_Shift_Del DEL CT CT - novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 CT CT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_024099.3 -1 validated p.S72fs 0.008:0.017 - - - - - - - - - NULL FLRT1 23769 genome.wustl.edu 37 11 63883943 63883943 + Silent SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_013280.4 +1 reviewed p.N68 0.969 62 0% 86 27.9% - - - - - HMMPfam_LRRNT,HMMSmart_SM00013,superfamily_L domain-like CCDC88B 283234 genome.wustl.edu 37 11 64108902 64108902 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_032251.5 +1 reviewed p.R153W 1.000 89 0% 116 25.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ATG2A 23130 genome.wustl.edu 37 11 64677164 64677164 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_015104.2 -1 validated p.S699F 0.149 63 0% 75 24% - - benign(0.355) deleterious(0.01) deleterious(0.518) NULL DPF2 5977 genome.wustl.edu 37 11 65108939 65108939 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_006268.3 +1 reviewed p.R124H 1.000 105 0% 215 31.2% - - possibly_damaging(0.934) tolerated(0.05) deleterious(0.726) NULL SCYL1 57410 genome.wustl.edu 37 11 65305782 65305782 + Silent SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_020680.3 +1 reviewed p.L763 0.994 43 0% 54 29.6% - - benign(0) tolerated(0.16) neutral(0.059) NULL ODZ4 26011 genome.wustl.edu 37 11 78497992 78497992 + Silent SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001098816.2 -1 validated p.D772 0.972 27 0% 39 30.8% - - - - - HMMSmart_EGF,HMMPfam_EGF_2 HEPHL1 341208 genome.wustl.edu 37 11 93754541 93754541 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001098672.1 +1 validated p.R3W 1.000 105 0% 205 29.8% - - benign(0) deleterious(0) neutral(0.445) NULL MRE11A 4361 genome.wustl.edu 37 11 94211996 94211996 + Missense_Mutation SNP A A G novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_005591.3 -1 reviewed p.V150A 1.000 98 0% 241 27.4% - - benign(0.083) deleterious(0) neutral(0.451) HMMPfam_Metallophos,superfamily_Metallo-dependent phosphatases CCDC82 79780 genome.wustl.edu 37 11 96117597 96117597 + Silent SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_024725.3 -1 validated p.N105 0.000 375 0.3% 883 29.3% - - - - - NULL DYNC2H1 79659 genome.wustl.edu 37 11 102984346 102984346 + Silent SNP T T C novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001080463.1 +1 reviewed p.H92 0.641 182 0% 457 26% - - - - - NULL ZC3H12C 85463 genome.wustl.edu 37 11 110023767 110023767 + Silent SNP T T C novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_033390.1 +1 validated p.P299 0.906 99 0% 195 32.8% - - - - - NULL HTR3A 3359 genome.wustl.edu 37 11 113857684 113857684 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_213621.3 +1 reviewed p.A384T 0.005 66 0% 116 33.6% - - benign(0) deleterious(0.02) neutral(0.383) HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM SLC37A2 219855 genome.wustl.edu 37 11 124955353 124955353 + Silent SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_198277.2 +1 validated p.D437 0.990 111 0% 121 23.1% - - - - - HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter ADAMTS8 11095 genome.wustl.edu 37 11 130286152 130286152 + Silent SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_007037.4 -1 reviewed p.H390 1.000 75 0% 87 21.8% - - - - - "HMMPfam_Reprolysin,superfamily_Metalloproteases (""zincins"") catalytic domain" IQSEC3 440073 genome.wustl.edu 37 12 248095 248095 + Silent SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_015232.1 +1 validated p.P219 0.003 34 0% 27 14.8% - - - - - NULL LRTM2 654429 genome.wustl.edu 37 12 1943735 1943735 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001039029.2 +1 validated p.V321I 0.997 4 0.000 17 0.353 - - unknown(0) - - NULL CACNA1C 775 genome.wustl.edu 37 12 2694544 2694544 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_199460.2 +1 reviewed p.T781I 1.000 40 0% 102 24.5% - - possibly_damaging(0.883) tolerated(0.18) neutral(0.401) NULL C1RL 51279 genome.wustl.edu 37 12 7249261 7249267 + Frame_Shift_Del DEL GCTACAG GCTACAG - novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 GCTACAG GCTACAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_016546.2 -1 validated p.P395fs 0.093:0.118:0.000:0.178:0.165:0.016:0.994 - - - - - - - - - HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys CLEC2A 387836 genome.wustl.edu 37 12 10084891 10084891 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001130711.1 -1 provisional p.G13D 0.000 136 0% 228 27.2% - - probably_damaging(0.998) tolerated(0.1) deleterious(0.761) NULL LST-3TM12 338821 genome.wustl.edu 37 12 21207445 21207445 + Silent SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001009562.4 +1 validated p.A472 0.000 174 0% 537 25.5% - - - - - HMMPfam_OATP,superfamily_MFS general substrate transporter SLCO1A2 6579 genome.wustl.edu 37 12 21453462 21453462 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_021094.3 -1 reviewed p.A244T 1.000 131 0% 324 26.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_OATP,superfamily_MFS general substrate transporter IFLTD1 160492 genome.wustl.edu 37 12 25679804 25679804 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001145728.1 -1 validated p.A193T 0.002 186 0% 344 28.2% - - benign(0.071) tolerated(0.13) neutral(0.258) HMMPfam_IF_tail,superfamily_Lamin A/C globular tail domain ERGIC2 51290 genome.wustl.edu 37 12 29502073 29502073 + Silent SNP A A G novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_016570.2 -1 validated p.F222 1.000 31 0% 147 26.5% - - - - - HMMPfam_DUF1692 YARS2 51067 genome.wustl.edu 37 12 32906877 32906877 + Missense_Mutation SNP T T C novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001040436.1 -1 validated p.R308G 0.999 164 0% 288 27.8% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_tRNA-synt_1b,superfamily_SSF52374 RPAP3 79657 genome.wustl.edu 37 12 48057297 48057297 + Silent SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_024604.2 -1 reviewed p.Y663 0.854 82 0% 359 20.3% - - - - - NULL COL2A1 1280 genome.wustl.edu 37 12 48380215 48380215 + Silent SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001844.4 -1 reviewed p.G477 0.947 42 0% 62 35.5% - - - - - HMMPfam_Collagen KRT4 3851 genome.wustl.edu 37 12 53207818 53207818 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_002272.2 -1 reviewed p.R83* 0.814 46 0% 58 19% - - - - - NULL KRT8 3856 genome.wustl.edu 37 12 53292559 53292559 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_002273.3 -1 reviewed p.R369Q 0.612 149 0.7% 152 12.5% - - benign(0.016) tolerated(0.16) neutral(0.060) HMMPfam_Filament TENC1 23371 genome.wustl.edu 37 12 53453350 53453350 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_015319.2 +1 reviewed p.R652H 0.993 26 0% 34 38.2% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL RARG 5916 genome.wustl.edu 37 12 53608246 53608246 + Missense_Mutation SNP A A G novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_000966.4 -1 validated p.L207P 1.000 220 0.5% 323 22.9% - - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) superfamily_Nuclear receptor ligand-binding domain CALCOCO1 57658 genome.wustl.edu 37 12 54107930 54107930 + Silent SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_020898.2 -1 validated p.A526 0.001 129 0% 203 28.1% - - - - - HMMPfam_CALCOCO1 ZC3H10 84872 genome.wustl.edu 37 12 56515043 56515043 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_032786.1 +1 provisional p.R233* 0.997 38 0% 73 24.7% - - - - - NULL ANKRD52 283373 genome.wustl.edu 37 12 56637023 56637023 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_173595.3 -1 validated p.T1045M 1.000 42 0% 52 34.6% - - possibly_damaging(0.948) tolerated(0.06) deleterious(0.714) NULL NACA 4666 genome.wustl.edu 37 12 57113968 57113968 + Missense_Mutation SNP A A C novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001113203.1 -1 validated p.I449S 0.006 161 0% 291 26.8% - - unknown(0) tolerated(0.13) - NULL ZBTB39 9880 genome.wustl.edu 37 12 57397594 57397594 + Silent SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_014830.1 -1 provisional p.L370 1.000 180 0% 312 34.9% - - - - - NULL MARS 4141 genome.wustl.edu 37 12 57882850 57882850 + Missense_Mutation SNP T T C novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_004990.2 +1 reviewed p.L53P 1.000 200 0% 334 33.5% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL DCTN2 10540 genome.wustl.edu 37 12 57927790 57927790 + Silent SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_006400.3 -1 reviewed p.V210 1.000 228 0% 481 29.9% - - - - - HMMPfam_Dynamitin KIF5A 3798 genome.wustl.edu 37 12 57963939 57963939 + Silent SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_004984.2 +1 reviewed p.D429 0.868 54 0% 66 27.3% - - - - - NULL MON2 23041 genome.wustl.edu 37 12 62943556 62943556 + Silent SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_015026.2 +1 validated p.S954 1.000 145 0% 424 27.8% - - - - - superfamily_ARM-type_fold PPM1H 57460 genome.wustl.edu 37 12 63042351 63042351 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_020700.1 -1 validated p.R488Q 1.000 187 0% 301 24.9% - - possibly_damaging(0.8) deleterious(0.01) deleterious(0.707) HMMSmart_SM00332,superfamily_Protein serine/threonine phosphatase 2C catalytic domain GNS 2799 genome.wustl.edu 37 12 65110563 65110563 + Silent SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_002076.3 -1 reviewed p.R539 0.003 113 0% 221 31.2% - - - - - NULL LEMD3 23592 genome.wustl.edu 37 12 65632292 65632292 + Missense_Mutation SNP C C A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_014319.4 +1 reviewed p.P569H 1.000 75 0% 266 27.8% - - probably_damaging(0.992) deleterious(0.03) deleterious(0.812) NULL HELB 92797 genome.wustl.edu 37 12 66704271 66704271 + Silent SNP T T C novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_033647.2 +1 reviewed p.T521 0.000 64 0% 164 32.3% - - - - - superfamily_P-loop containing nucleoside triphosphate hydrolases PTPRB 5787 genome.wustl.edu 37 12 70974901 70974902 + Frame_Shift_Del DEL GA GA - novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 GA GA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001109754.1 -1 reviewed p.L831fs 0.995:1.000 - - - - - - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III NAV3 89795 genome.wustl.edu 37 12 78400517 78400517 + Missense_Mutation SNP C C A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_014903.4 +1 validated p.P400Q 0.995 120 0% 233 29.2% - - probably_damaging(1) deleterious(0.05) deleterious(0.845) NULL PPFIA2 8499 genome.wustl.edu 37 12 82147935 82147935 + Missense_Mutation SNP G G T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_003625.2 -1 reviewed p.S22R 1.000 141 0% 280 28.6% - - possibly_damaging(0.658) tolerated(0.48) neutral(0.243) NULL TMTC2 160335 genome.wustl.edu 37 12 83424581 83424581 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_152588.1 +1 provisional p.R692H 1.000 223 0% 493 31.8% - - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_TPR_2,HMMSmart_SM00028,superfamily_TPR-like HAL 3034 genome.wustl.edu 37 12 96374592 96374592 + Missense_Mutation SNP C C A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_002108.2 -1 reviewed p.G446V 1.000 174 0% 380 27.6% - - - - - HMMPfam_PAL,superfamily_L-Aspartase-like TMPO 7112 genome.wustl.edu 37 12 98938754 98938754 + Missense_Mutation SNP T T G novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001032283.2 +1 reviewed p.F302C 1.000 135 0% 451 34.1% - - possibly_damaging(0.918) deleterious(0) deleterious(0.813) NULL ANKS1B 56899 genome.wustl.edu 37 12 100169375 100169375 + Silent SNP T T C novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_152788.3 -1 validated p.Q304 0.989 166 0% 535 17.2% - - - - - NULL USP30 84749 genome.wustl.edu 37 12 109523471 109523471 + Splice_Site SNP G G T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_032663.3 +1 validated e13-1 1.000 149 0% 253 35.2% - - - - - - MYL2 4633 genome.wustl.edu 37 12 111352044 111352044 + Missense_Mutation SNP G G T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_000432.3 -1 reviewed p.P74T 0.999 186 0% 397 22.4% - - possibly_damaging(0.548) deleterious(0.05) deleterious(0.531) superfamily_EF-hand OAS2 4939 genome.wustl.edu 37 12 113424892 113424892 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_016817.2 +1 reviewed p.T76I 0.011 47 0% 99 25.3% - - benign(0.027) tolerated(0.08) neutral(0.301) PatternScan_25A_SYNTH_1,superfamily_Nucleotidyltransferase RASAL1 8437 genome.wustl.edu 37 12 113553482 113553482 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_004658.1 -1 reviewed p.R321C 1.000 80 0% 122 40.2% - - possibly_damaging(0.768) deleterious(0.01) deleterious(0.691) HMMSmart_SM00323,superfamily_GTPase activation domain GAP SRRM4 84530 genome.wustl.edu 37 12 119419797 119419797 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_194286.2 +1 validated p.T37M 1.000 58 0% 90 32.2% - - unknown(0) deleterious(0) - NULL PRKAB1 5564 genome.wustl.edu 37 12 120114386 120114386 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_006253.4 +1 reviewed p.V193I 0.029 257 0% 514 28.6% - - benign(0) tolerated(0.65) neutral(0.003) HMMPfam_AMPKBI PXN 5829 genome.wustl.edu 37 12 120651738 120651738 + Silent SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001080855.1 -1 validated p.F472 0.646 99 0% 133 27.8% - - - - - HMMPfam_LIM,superfamily_Glucocorticoid receptor-like (DNA-binding domain) PITPNM2 57605 genome.wustl.edu 37 12 123490066 123490066 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_020845.2 -1 validated p.R225W 1.000 111 0% 144 31.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_IP_trans,superfamily_Bet v1-like TCTN2 79867 genome.wustl.edu 37 12 124181003 124181003 + Missense_Mutation SNP A A T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_024809.3 +1 validated p.R452W 0.000 215 0% 399 34.1% - - probably_damaging(0.982) deleterious(0.02) deleterious(0.809) NULL FAM101A 144347 genome.wustl.edu 37 12 124798897 124798897 + Silent SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_181709.3 +1 validated p.P78 0.369 94 0% 90 26.7% - - - - - NULL SCARB1 949 genome.wustl.edu 37 12 125302250 125302250 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_005505.4 -1 validated p.V44M 0.998 116 0% 179 24% - - probably_damaging(0.992) tolerated(0.05) deleterious(0.793) HMMPfam_CD36 EP400 57634 genome.wustl.edu 37 12 132530314 132530314 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_015409.3 +1 validated p.V2356M 0.993 219 0% 337 29.1% - - unknown(0) - - superfamily_Homeodomain_like MPHOSPH8 54737 genome.wustl.edu 37 13 20240694 20240694 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_017520.3 +1 validated p.D717N 1.000 130 0% 237 24.9% - - possibly_damaging(0.81) deleterious(0.01) deleterious(0.711) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat NBEA 26960 genome.wustl.edu 37 13 36180629 36180629 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_015678.4 +1 validated p.V2455I 0.993 203 0% 501 25.1% - - benign(0.001) tolerated(0.52) neutral(0.009) HMMPfam_Beach,superfamily_BEACH domain,superfamily_ARM repeat FREM2 341640 genome.wustl.edu 37 13 39424333 39424333 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_207361.4 +1 reviewed p.R2180C 1.000 100 0% 245 31% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Calx-beta,HMMSmart_SM00237 KIAA0564 23078 genome.wustl.edu 37 13 42273252 42273252 + Silent SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_015058.1 -1 validated p.P1173 0.011 143 0% 266 32% - - - - - NULL ENOX1 55068 genome.wustl.edu 37 13 43900612 43900612 + Missense_Mutation SNP C C A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001127615.1 -1 validated p.W362C 1.000 183 0% 326 25.8% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL TSC22D1 8848 genome.wustl.edu 37 13 45148518 45148518 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_183422.2 -1 validated p.V565I 0.666 143 0% 243 31.7% - - possibly_damaging(0.612) tolerated(0.29) neutral(0.241) NULL ZC3H13 23091 genome.wustl.edu 37 13 46549612 46549613 + Frame_Shift_Ins INS - - CT novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_015070.3 -1 validated p.E759fs 0.993:1.000 - - - - - - - - - NULL RNASEH2B 79621 genome.wustl.edu 37 13 51522189 51522189 + Missense_Mutation SNP T T C novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_024570.2 +1 reviewed p.L228S 0.993 110 0% 301 23.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RNase_H2-Ydr279 PCDH17 27253 genome.wustl.edu 37 13 58207121 58207121 + Silent SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001040429.2 +1 reviewed p.P147 0.002 71 0% 111 26.1% - - - - - HMMPfam_Cadherin,superfamily_Cadherin-like KLF12 11278 genome.wustl.edu 37 13 74387338 74387338 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_007249.4 -1 validated p.V253I 1.000 437 0% 765 27.2% - - benign(0.382) deleterious(0.03) deleterious(0.486) NULL COL4A2 1284 genome.wustl.edu 37 13 111144499 111144499 + Silent SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001846.2 +1 reviewed p.G1179 0.999 119 0% 160 31.2% - - - - - HMMPfam_Collagen PTGDR 5729 genome.wustl.edu 37 14 52734866 52734866 + Missense_Mutation SNP A A G novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_000953.2 +1 reviewed p.M112V 1.000 87 0% 156 22.4% - - possibly_damaging(0.649) deleterious(0.01) deleterious(0.634) HMMPfam_7tm_1,superfamily_SSF81321 ARID4A 5926 genome.wustl.edu 37 14 58827719 58827719 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_002892.3 +1 reviewed p.P680L 0.998 125 0% 335 26.3% - - benign(0.15) tolerated(0.22) neutral(0.055) NULL DAAM1 23002 genome.wustl.edu 37 14 59798626 59798626 + Silent SNP T T C novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_014992.1 +1 reviewed p.Y652 1.000 76 0% 240 29.6% - - - - - HMMSmart_SM00498,HMMPfam_FH2,superfamily_Formin homology 2 domain (FH2 domain) RTN1 6252 genome.wustl.edu 37 14 60193992 60193992 + Silent SNP C C T rs74373925 TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_021136.2 -1 reviewed p.S470 0.258 15 0% 17 47.1% - - - - - NULL MTHFD1 4522 genome.wustl.edu 37 14 64892895 64892895 + Missense_Mutation SNP A A G novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_005956.3 +1 reviewed p.Y371C 1.000 82 0% 176 25.6% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_FTHFS,superfamily_P-loop containing nucleoside triphosphate hydrolases PLEKHG3 26030 genome.wustl.edu 37 14 65208199 65208199 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_015549.1 +1 validated p.G599D 0.078 35 0% 42 14.3% - - benign(0.273) deleterious(0) deleterious(0.474) NULL C14orf43 91748 genome.wustl.edu 37 14 74206064 74206064 + Silent SNP G G T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001043318.1 -1 validated p.P216 0.965 54 0% 63 38.1% - - - - - NULL EIF2B2 8892 genome.wustl.edu 37 14 75473336 75473336 + Silent SNP A A G novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_014239.3 +1 reviewed p.G250 0.997 256 0% 406 29.6% - - - - - HMMPfam_IF-2B,superfamily_NagB/RpiA/CoA transferase-like SAMD15 161394 genome.wustl.edu 37 14 77844680 77844680 + Silent SNP C C A rs113603159 TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001010860.1 +1 provisional p.R307 0.000 25 0% 100 27% - - - - - NULL ISM2 145501 genome.wustl.edu 37 14 77944649 77944649 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_182509.3 -1 reviewed p.P263L 0.000 130 0% 165 32.1% - - unknown(0) - - NULL SEL1L 6400 genome.wustl.edu 37 14 81945992 81945992 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 ENST00000261258 -1 known p.R74C 0.000 77 0% 230 28.7% - - possibly_damaging(0.905) deleterious(0) deleterious(0.804) NULL TTC7B 145567 genome.wustl.edu 37 14 91142993 91142993 + Silent SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001010854.1 -1 provisional p.D342 0.570 100 0% 130 33.8% - - - - - superfamily_TPR-like BTBD7 55727 genome.wustl.edu 37 14 93709395 93709395 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001002860.2 -1 validated p.A875T 1.000 139 0% 249 33.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ATG2B 55102 genome.wustl.edu 37 14 96779401 96779401 + Splice_Site SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_018036.5 -1 validated e25+1 1.000 53 0% 179 22.9% - - - - - - WARS 7453 genome.wustl.edu 37 14 100820842 100820842 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_004184.3 -1 reviewed p.R162W 1.000 63 0% 212 30.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Nucleotidylyl transferase TECPR2 9895 genome.wustl.edu 37 14 102898168 102898168 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_014844.3 +1 validated p.R374C 0.001 43 0% 76 28.9% - - probably_damaging(0.994) deleterious(0.01) deleterious(0.858) NULL C14orf79 122616 genome.wustl.edu 37 14 105457889 105457889 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_174891.3 +1 validated p.R211C 0.038 210 0% 392 33.7% - - benign(0) tolerated(0.15) neutral(0.241) NULL IGHV4-59 28392 genome.wustl.edu 37 14 107083527 107083527 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 ENST00000455737 -1 known p.S26L 0.656 299 0.3% 564 18.1% - - probably_damaging(0.986) deleterious(0) deleterious(0.879) HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin LOC642131 642131 genome.wustl.edu 37 15 22472950 22472950 + Silent SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 XM_001716834.1 -1 model p.A114 0.026 233 0% 311 18.6% - - - - - HMMSmart_SM00406,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin NIPA1 123606 genome.wustl.edu 37 15 23049067 23049067 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_144599.4 -1 reviewed p.A251V 1.000 87 0% 137 29.2% - - possibly_damaging(0.903) deleterious(0) deleterious(0.802) HMMPfam_DUF803 ATP10A 57194 genome.wustl.edu 37 15 26107973 26107973 + Missense_Mutation SNP A A C novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_024490.3 -1 reviewed p.F91V 1.000 81 0% 92 20.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL TRPM1 4308 genome.wustl.edu 37 15 31329959 31329959 + Silent SNP G G T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_002420.4 -1 reviewed p.I820 1.000 293 0% 755 28.2% - - - - - NULL OTUD7A 161725 genome.wustl.edu 37 15 31862287 31862287 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_130901.1 -1 provisional p.R89* 0.996 95 0% 107 33.6% - - - - - NULL ACTC1 70 genome.wustl.edu 37 15 35084304 35084304 + Missense_Mutation SNP C C A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_005159.4 -1 reviewed p.Q265H 1.000 114 0% 184 31% - - benign(0.181) - - HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain ATPBD4 89978 genome.wustl.edu 37 15 35830610 35830610 + Missense_Mutation SNP G G T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_080650.3 -1 validated p.D59E 0.839 181 0% 322 30.7% - - benign(0) tolerated(1) - HMMPfam_ATP_bind_4,superfamily_Adenine nucleotide alpha hydrolases-like PLCB2 5330 genome.wustl.edu 37 15 40583363 40583363 + Silent SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_004573.2 -1 validated p.S964 0.001 14 0% 15 40% - - - - - NULL MGA 23269 genome.wustl.edu 37 15 42028600 42028600 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001080541.2 +1 validated p.R1380* 0.997 143 0% 246 30.5% - - - - - NULL MGA 23269 genome.wustl.edu 37 15 42053985 42053985 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001080541.2 +1 validated p.G2532* 1.000 62 0% 226 29.2% - - - - - superfamily_HLH helix-loop-helix DNA-binding domain SPTBN5 51332 genome.wustl.edu 37 15 42169046 42169046 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_016642.2 -1 validated p.G1236D 0.095 52 0% 54 35.2% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat SPTBN5 51332 genome.wustl.edu 37 15 42172419 42172419 + Missense_Mutation SNP A A G novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_016642.2 -1 validated p.V882A 0.000 53 0% 56 23.2% - - benign(0) tolerated(0.42) neutral(0.014) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat FRMD5 84978 genome.wustl.edu 37 15 44198059 44198059 + Missense_Mutation SNP C C A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_032892.3 -1 validated p.R173M 1.000 222 0% 384 27.6% - - probably_damaging(0.973) tolerated(0.09) deleterious(0.712) HMMPfam_FERM_M,superfamily_Second domain of FERM,HMMSmart_SM00295 GALK2 2585 genome.wustl.edu 37 15 49575813 49575813 + Silent SNP A A G novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_002044.2 +1 reviewed p.P218 0.989 143 0% 388 26.8% - - - - - superfamily_Ribosomal_S5_D2-typ_fold APH1B 83464 genome.wustl.edu 37 15 63571491 63571491 + Missense_Mutation SNP T T A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_031301.3 +1 validated p.I82N 0.997 197 0.5% 606 27.1% - - probably_damaging(0.983) deleterious(0.01) deleterious(0.835) HMMPfam_Aph-1 SNORD16 595097 genome.wustl.edu 37 15 66795233 66795233 + RNA SNP T T A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NR_002440.1 -1 provisional NULL 1.000 36 0% 89 29.2% - - - - - - SKOR1 390598 genome.wustl.edu 37 15 68118704 68118704 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001031807.1 +1 provisional p.A171T 1.000 79 0% 92 28.3% - - benign(0.135) deleterious(0.01) neutral(0.417) superfamily_SAND_like,HMMPfam_c-SKI_SMAD_bind PAQR5 54852 genome.wustl.edu 37 15 69677101 69677101 + Missense_Mutation SNP T T C novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001104554.1 +1 validated p.C89R 0.960 241 0% 340 24.7% - - benign(0.002) deleterious(0.02) neutral(0.383) HMMPfam_HlyIII CCDC33 80125 genome.wustl.edu 37 15 74536466 74536466 + Silent SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_025055.3 +1 validated p.S54 0.055 75 0% 119 32.8% - - - - - HMMPfam_C2,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) PTPN9 5780 genome.wustl.edu 37 15 75762284 75762284 + Silent SNP A A G novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_002833.2 -1 reviewed p.G472 0.961 132 0% 205 25.9% - - - - - HMMPfam_Y_phosphatase,HMMSmart_PTPc,superfamily_SSF52799 LOC441728 441728 genome.wustl.edu 37 15 76077411 76077411 + Splice_Site SNP T T C novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 XR_017329.2 +1 model NULL 0.769 89 0% 109 17.4% - - - - - - IL16 3603 genome.wustl.edu 37 15 81575053 81575053 + Silent SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_172217.3 +1 reviewed p.H385 0.998 129 0% 182 25.8% - - - - - HMMSmart_SM00228,superfamily_PDZ domain-like WHAMM 123720 genome.wustl.edu 37 15 83499455 83499455 + Silent SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001080435.1 +1 provisional p.A582 0.000 73 0% 160 24.4% - - - - - NULL ALPK3 57538 genome.wustl.edu 37 15 85400778 85400778 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_020778.4 +1 validated p.A1139T 0.139 22 0% 27 29.6% - - probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL KIF7 374654 genome.wustl.edu 37 15 90190244 90190244 + Silent SNP C C A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_198525.2 -1 validated p.R535 0.999 59 0% 59 28.8% - - - - - NULL RGMA 56963 genome.wustl.edu 37 15 93588738 93588738 + Silent SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_020211.2 -1 reviewed p.I281 0.986 58 0% 54 20.4% - - - - - HMMPfam_RGM_C MEF2A 4205 genome.wustl.edu 37 15 100252748 100252748 + Silent SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_005587.2 +1 reviewed p.P424 0.015 50 0% 62 30.6% - - - - - NULL CCDC154 645811 genome.wustl.edu 37 16 1486029 1486029 + Silent SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001143980.1 -1 provisional p.L516 1.000 95 0% 104 25% - - - - - NULL TSC2 7249 genome.wustl.edu 37 16 2134621 2134621 + Silent SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_000548.3 +1 reviewed p.S1466 0.008 38 0% 39 15.4% - - - - - superfamily_Rap/Ran-GAP (Pfam 02145) GLIS2 84662 genome.wustl.edu 37 16 4382406 4382406 + Missense_Mutation SNP T T C novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_032575.2 +1 reviewed p.L42P 1.000 40 0% 33 39.4% - - possibly_damaging(0.947) deleterious(0) deleterious(0.835) NULL PPL 5493 genome.wustl.edu 37 16 4934240 4934240 + Silent SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_002705.4 -1 reviewed p.R1472 0.997 26 0% 35 31.4% - - - - - NULL TNRC6A 27327 genome.wustl.edu 37 16 24802902 24802904 + In_Frame_Del DEL AAG AAG - novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 AAG AAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_014494.2 +1 reviewed p.E983in_frame_del 1.000:0.997:1.000 - - - - - - - - - NULL IL21R 50615 genome.wustl.edu 37 16 27445681 27445681 + Silent SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_021798.2 +1 reviewed p.P21 0.000 131 0% 170 22.4% - - - - - NULL KIAA0556 23247 genome.wustl.edu 37 16 27789941 27789941 + Silent SNP G G T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_015202.2 +1 validated p.R1616 0.952 101 0% 173 15% - - - - - NULL APOBR 55911 genome.wustl.edu 37 16 28508599 28508599 + Missense_Mutation SNP C C A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_018690.2 +1 reviewed p.A737D 0.002 52 0% 88 12.5% - - probably_damaging(0.979) tolerated(0.06) deleterious(0.744) NULL GNAO1 2775 genome.wustl.edu 37 16 56370730 56370730 + Silent SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_020988.2 +1 validated p.A227 0.143 128 0% 138 35.5% - - - - - HMMPfam_G-alpha,HMMSmart_SM00275,superfamily_P-loop containing nucleoside triphosphate hydrolases NLRC5 84166 genome.wustl.edu 37 16 57059733 57059733 + Missense_Mutation SNP A A C novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_032206.3 +1 validated p.Q293P 0.488 115 0.9% 156 23.7% - - possibly_damaging(0.669) tolerated(0.15) deleterious(0.478) HMMPfam_NACHT,superfamily_P-loop containing nucleoside triphosphate hydrolases KIFC3 3801 genome.wustl.edu 37 16 57792822 57792822 + Splice_Site SNP C C A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_005550.3 -1 validated e18-1 1.000 19 0% 23 39.1% - - - - - - SLC9A5 6553 genome.wustl.edu 37 16 67291250 67291251 + Frame_Shift_Ins INS - - T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_004594.2 +1 validated p.L446fs 1.000:1.000 - - - - - - - - - HMMPfam_Na_H_Exchanger DUS2L 54920 genome.wustl.edu 37 16 68107939 68107939 + Silent SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_017803.3 +1 provisional p.A271 0.045 174 0% 223 25.1% - - - - - HMMPfam_Dus,superfamily_FMN-linked oxidoreductases DUS2L 54920 genome.wustl.edu 37 16 68109409 68109409 + Splice_Site SNP T T C novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_017803.3 +1 provisional e12+2 1.000 119 0% 202 23.3% - - - - - - AARS 16 genome.wustl.edu 37 16 70303650 70303650 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001605.2 -1 reviewed p.P278L 0.996 134 0% 149 25.5% - - benign(0.163) deleterious(0.02) neutral(0.398) superfamily_Ala-tRNA-synth_IIc_anticod-bd,HMMPfam_tRNA-synt_2c FTSJD1 55783 genome.wustl.edu 37 16 71318165 71318165 + Silent SNP T T C novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001099642.1 -1 validated p.E553 0.001 47 0% 160 25.6% - - - - - NULL ZNF23 7571 genome.wustl.edu 37 16 71483197 71483197 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_145911.1 -1 provisional p.T244I 0.989 148 0% 291 26.1% - - probably_damaging(0.991) tolerated(0.07) deleterious(0.763) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF23 7571 genome.wustl.edu 37 16 71483628 71483630 + In_Frame_Del DEL CTT CTT - novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_145911.1 -1 provisional p.K100in_frame_del 0.799:0.846:0.871 - - - - - - - - - NULL ZFHX3 463 genome.wustl.edu 37 16 72830903 72830904 + Frame_Shift_Del DEL CT CT - novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 CT CT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_006885.3 -1 reviewed p.R1893fs 0.999:0.991 - - - - - - - - - NULL CLEC18B 497190 genome.wustl.edu 37 16 74446703 74446703 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001011880.2 -1 validated p.C251Y 1.000 1122 0% 1456 8.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00181,PatternScan_EGF_1,PatternScan_EGF_2 ZFP1 162239 genome.wustl.edu 37 16 75203844 75203844 + Missense_Mutation SNP A A G novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_153688.2 +1 validated p.Q279R 1.000 102 0% 213 26.8% - - possibly_damaging(0.486) tolerated(0.38) neutral(0.179) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers CDYL2 124359 genome.wustl.edu 37 16 80646689 80646689 + Missense_Mutation SNP A A G novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_152342.2 -1 validated p.V351A 0.999 91 0% 191 27.7% - - possibly_damaging(0.815) tolerated(1) neutral(0.307) HMMPfam_ECH,superfamily_SSF52096 WFDC1 58189 genome.wustl.edu 37 16 84328650 84328652 + In_Frame_Del DEL CTC CTC - novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_021197.2 +1 reviewed p.L26in_frame_del 0.009:0.009:0.001 - - - - - - - - - NULL KIAA1609 57707 genome.wustl.edu 37 16 84514234 84514234 + Silent SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_020947.3 -1 validated p.T386 0.039 146 0% 211 28.4% - - - - - HMMPfam_TLD,HMMSmart_SM00584 CBFA2T3 863 genome.wustl.edu 37 16 88967925 88967925 + Silent SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_005187.4 -1 reviewed p.F97 1.000 24 0% 24 50% - - - - - NULL MYO1C 4641 genome.wustl.edu 37 17 1375295 1375295 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001080779.1 -1 reviewed p.R643C 1.000 76 0% 97 15.5% - - probably_damaging(1) tolerated(0.24) deleterious(0.537) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases WDR81 124997 genome.wustl.edu 37 17 1629646 1629646 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 ENST00000409644 +1 known p.G465R 1.000 47 0% 33 24.2% - - benign(0.011) tolerated(0.33) neutral(0.025) HMMPfam_Beach,superfamily_BEACH domain ATP2A3 489 genome.wustl.edu 37 17 3833630 3833630 + Silent SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_174953.1 -1 reviewed p.V903 1.000 155 0% 182 28.6% - - - - - HMMPfam_Cation_ATPase_C,superfamily_Calcium ATPase transmembrane domain M PLD2 5338 genome.wustl.edu 37 17 4717771 4717773 + In_Frame_Del DEL GAG GAG - novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 GAG GAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_002663.3 +1 validated p.E358in_frame_del 0.998:1.000:1.000 - - - - - - - - - superfamily_Phospholipase D/nuclease MINK1 50488 genome.wustl.edu 37 17 4791001 4791001 + Silent SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_153827.4 +1 reviewed p.D382 1.000 32 0% 45 28.9% - - - - - NULL ENO3 2027 genome.wustl.edu 37 17 4860152 4860152 + Silent SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001976.3 +1 reviewed p.S401 0.084 335 0% 512 31.1% - - - - - HMMPfam_Enolase_C,superfamily_Enolase C-terminal domain-like KIF1C 10749 genome.wustl.edu 37 17 4927297 4927297 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_006612.5 +1 validated p.P1055S 0.998 102 0% 192 27.1% - - probably_damaging(0.988) deleterious(0.01) deleterious(0.843) NULL TNK1 8711 genome.wustl.edu 37 17 7287828 7287828 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_003985.3 +1 validated p.G298R 1.000 86 0% 87 19.5% - - benign(0.37) tolerated(1) neutral(0.117) HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like FXR2 9513 genome.wustl.edu 37 17 7497290 7497290 + Silent SNP T T C novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_004860.3 -1 reviewed p.R351 0.996 112 0% 237 12.2% - - - - - HMMSmart_SM00322,HMMPfam_KH_1,superfamily_Eukaryotic type KH-domain (KH-domain type I) KCNAB3 9196 genome.wustl.edu 37 17 7830993 7830993 + Silent SNP A A G novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_004732.2 -1 reviewed p.G102 0.990 165 0% 319 26% - - - - - HMMPfam_Aldo_ket_red,superfamily_Aldo/ket_red DNAH9 1770 genome.wustl.edu 37 17 11840725 11840725 + Silent SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001372.3 +1 reviewed p.N4182 0.251 181 0% 280 29.3% - - - - - HMMPfam_Dynein_heavy FLII 2314 genome.wustl.edu 37 17 18156936 18156936 + Silent SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_002018.2 -1 reviewed p.T259 0.008 168 0% 209 35.9% - - - - - HMMSmart_LRR_TYP,superfamily_SSF52058 TLCD1 116238 genome.wustl.edu 37 17 27052323 27052323 + Missense_Mutation SNP A A G novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_138463.3 -1 validated p.M120T 1.000 80 0% 122 36.9% - - possibly_damaging(0.679) deleterious(0.04) deleterious(0.591) HMMPfam_TRAM_LAG1_CLN8,HMMSmart_TLC SEZ6 124925 genome.wustl.edu 37 17 27285151 27285151 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_178860.4 -1 validated p.R706C 1.000 93 0% 143 28% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL CORO6 84940 genome.wustl.edu 37 17 27948430 27948430 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_032854.3 -1 validated p.R4C 1.000 142 0% 149 29.5% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_DUF1899 CCT6B 10693 genome.wustl.edu 37 17 33269593 33269593 + Missense_Mutation SNP T T G novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_006584.2 -1 reviewed p.K265N 1.000 111 0% 436 34.4% - - benign(0.387) deleterious(0.02) deleterious(0.507) HMMPfam_Cpn60_TCP1,superfamily_GroEL equatorial domain-like,superfamily_GroEL apical domain-like,superfamily_GroEL-intermediate domain like RASL10B 91608 genome.wustl.edu 37 17 34067550 34067550 + Silent SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_033315.3 +1 validated p.T113 0.999 71 0% 114 29.8% - - - - - HMMPfam_Miro,superfamily_SSF52540 MYO19 80179 genome.wustl.edu 37 17 34864957 34864957 + Missense_Mutation SNP A A G novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_025109.5 -1 validated p.V392A 1.000 119 0.8% 150 31.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 GSDMB 55876 genome.wustl.edu 37 17 38068663 38068663 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001042471.1 -1 reviewed p.G108D 0.000 255 0.4% 624 27.4% - - probably_damaging(0.965) deleterious(0) deleterious(0.851) HMMPfam_Gasdermin CASC3 22794 genome.wustl.edu 37 17 38324465 38324465 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_007359.4 +1 reviewed p.P587L 1.000 328 0% 549 25.7% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL AOC3 8639 genome.wustl.edu 37 17 41006734 41006734 + Missense_Mutation SNP G G T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_003734.2 +1 reviewed p.G624C 0.203 44 0% 35 31.4% - - possibly_damaging(0.947) deleterious(0) deleterious(0.835) HMMPfam_Cu_amine_oxid,superfamily_CuNH_oxidase AARSD1 80755 genome.wustl.edu 37 17 41102658 41102658 + Silent SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001136042.2 -1 validated p.A571 0.986 179 0% 275 28.4% - - - - - NULL GPATCH8 23131 genome.wustl.edu 37 17 42477032 42477032 + Missense_Mutation SNP T T A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001002909.1 -1 validated p.S805C 0.976 180 0% 258 34.5% - - unknown(0) tolerated(0.17) - NULL MYL4 4635 genome.wustl.edu 37 17 45297350 45297350 + Silent SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001002841.1 +1 reviewed p.L82 1.000 116 0% 153 34.6% - - - - - superfamily_SSF47473 EME1 146956 genome.wustl.edu 37 17 48452837 48452839 + In_Frame_Del DEL GAA GAA - novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 GAA GAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_152463.2 +1 reviewed p.E92in_frame_del 0.986:0.888:0.860 - - - - - - - - - NULL DDX42 11325 genome.wustl.edu 37 17 61887906 61887906 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_007372.2 +1 reviewed p.R429H 1.000 149 0% 441 31.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DEAD,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases TEX2 55852 genome.wustl.edu 37 17 62226408 62226408 + Missense_Mutation SNP A A G novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_018469.3 -1 validated p.I1109T 0.996 116 0% 195 31.3% - - benign(0.046) deleterious(0.01) neutral(0.408) NULL LOC124685 124685 genome.wustl.edu 37 17 69617452 69617452 + RNA SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 XR_040247.2 +1 model NULL 1.000 26 0% 58 25.9% - - - - - - FAM104A 84923 genome.wustl.edu 37 17 71208827 71208827 + Missense_Mutation SNP G G T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001098832.1 -1 validated p.A125E 0.010 349 0% 582 27.3% - - benign(0.367) tolerated(0.06) neutral(0.439) NULL OTOP3 347741 genome.wustl.edu 37 17 72945469 72945469 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_178233.1 +1 provisional p.M583I 1.000 79 0% 118 15.3% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_DUF270 KIAA0195 9772 genome.wustl.edu 37 17 73490739 73490739 + Silent SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_014738.4 +1 validated p.D813 1.000 60 0% 76 43.4% - - - - - NULL QRICH2 84074 genome.wustl.edu 37 17 74276157 74276157 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_032134.1 -1 provisional p.R1403C 0.849 53 0% 62 41.9% - - probably_damaging(0.991) tolerated(0.17) deleterious(0.503) NULL AFMID 125061 genome.wustl.edu 37 17 76200751 76200751 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001145526.1 +1 validated p.A108V 1.000 94 0% 108 13% - - probably_damaging(0.991) tolerated(0.06) deleterious(0.766) superfamily_alpha/beta-Hydrolases USP36 57602 genome.wustl.edu 37 17 76798404 76798404 + Splice_Site SNP A A G novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_025090.3 -1 validated e15+2 0.010 57 0% 65 33.8% - - - - - - GPS1 2873 genome.wustl.edu 37 17 80014832 80014832 + Silent SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_212492.1 +1 reviewed p.R497 0.998 54 0% 68 39.7% - - - - - NULL RNMT 8731 genome.wustl.edu 37 18 13759960 13759961 + Frame_Shift_Ins INS - - T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_003799.1 +1 provisional p.E472fs 1.000:1.000 - - - - - - - - - HMMPfam_Pox_MCEL,superfamily_S-adenosyl-L-methionine-dependent methyltransferases GREB1L 80000 genome.wustl.edu 37 18 19088527 19088527 + Silent SNP C C T rs181760697 by1000genomes TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001142966.1 +1 provisional p.P1570 0.036 64 0% 122 31.1% - - - - - NULL DSG4 147409 genome.wustl.edu 37 18 28983494 28983494 + Silent SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001134453.1 +1 reviewed p.V511 0.001 231 0% 491 31.2% - - - - - superfamily_Cadherin SETBP1 26040 genome.wustl.edu 37 18 42281510 42281510 + Silent SNP C C A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_015559.2 +1 validated p.R67 1.000 76 0% 173 30.6% - - - - - NULL LOC100131669 100131669 genome.wustl.edu 37 18 42643648 42643648 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 XM_001715120.1 -1 model p.R29H 0.989 18 0% 30 23.3% - - - - - NULL SLC14A2 8170 genome.wustl.edu 37 18 43262294 43262294 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_007163.3 +1 validated p.P858L 1.000 368 0% 688 31.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_UT SLC14A1 6563 genome.wustl.edu 37 18 43307323 43307323 + Silent SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001128588.3 +1 reviewed p.D29 0.979 50 0% 101 35.6% - - - - - NULL EPG5 57724 genome.wustl.edu 37 18 43519643 43519643 + Silent SNP G G T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_020964.2 -1 validated p.P674 0.993 162 0% 261 29.5% - - - - - NULL C18orf25 147339 genome.wustl.edu 37 18 43796270 43796270 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_145055.3 +1 validated p.R142W 0.996 41 0% 86 19.8% - - probably_damaging(1) deleterious(0.05) deleterious(0.845) NULL CTIF 9811 genome.wustl.edu 37 18 46284714 46284714 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001142397.1 +1 validated p.R337W 1.000 24 0% 34 26.5% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL DYM 54808 genome.wustl.edu 37 18 46906048 46906048 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_017653.3 -1 reviewed p.A92T 1.000 107 0% 427 27.4% - - benign(0) tolerated(0.59) neutral(0.004) HMMPfam_Dymeclin ONECUT2 9480 genome.wustl.edu 37 18 55103371 55103371 + Silent SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_004852.2 +1 reviewed p.G141 0.999 132 0% 194 28.4% - - - - - NULL ZADH2 284273 genome.wustl.edu 37 18 72914045 72914045 + Silent SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_175907.4 -1 validated p.L154 1.000 71 0% 143 28% - - - - - superfamily_GroES-like,superfamily_NAD(P)-binding Rossmann-fold domains POLR2E 5434 genome.wustl.edu 37 19 1091902 1091902 + Silent SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_002695.3 -1 reviewed p.E79 1.000 114 0% 137 38.7% - - - - - HMMPfam_RNA_pol_Rpb5_N,superfamily_RNA_pol_Rpb5_N SGTA 6449 genome.wustl.edu 37 19 2769040 2769040 + Silent SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_003021.3 -1 reviewed p.Y9 0.995 101 0% 169 28.4% - - - - - NULL SH3GL1 6455 genome.wustl.edu 37 19 4361702 4361702 + Silent SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_003025.2 -1 provisional p.T334 0.908 108 0% 127 29.1% - - - - - HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain PLIN5 440503 genome.wustl.edu 37 19 4531717 4531717 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001013706.2 -1 validated p.A60T 0.998 21 0% 15 33.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Perilipin SAFB 6294 genome.wustl.edu 37 19 5661612 5661613 + Frame_Shift_Del DEL GA GA - novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 GA GA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_002967.2 +1 reviewed p.R651fs 1.000:0.165 - - - - - - - - - superfamily_SSF54928 FUT6 2528 genome.wustl.edu 37 19 5832208 5832208 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_000150.2 -1 reviewed p.P124L 0.000 96 0% 90 44.4% - - benign(0.004) tolerated(0.2) neutral(0.049) HMMPfam_Glyco_transf_10 MARCH2 51257 genome.wustl.edu 37 19 8503351 8503351 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001005415.1 +1 validated p.A221V 0.000 45 0% 82 39% - - benign(0.017) deleterious(0) neutral(0.445) NULL ZNF426 79088 genome.wustl.edu 37 19 9639292 9639292 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_024106.1 -1 provisional p.E477K 0.000 156 0% 314 29% - - benign(0.195) tolerated(0.06) neutral(0.341) HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers RGL3 57139 genome.wustl.edu 37 19 11517269 11517269 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 ENST00000453604 -1 known p.R193C 0.996 12 0% 17 41.2% - - unknown(0) - - NULL ZNF563 147837 genome.wustl.edu 37 19 12429746 12429746 + Missense_Mutation SNP A A G novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_145276.2 -1 validated p.Y365H 0.116 352 0% 531 28.6% - - probably_damaging(1) tolerated(0.06) deleterious(0.823) HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers GCDH 2639 genome.wustl.edu 37 19 13004423 13004423 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_000159.2 +1 reviewed p.A154V 1.000 212 0.5% 273 31.1% - - benign(0.001) deleterious(0.05) neutral(0.345) HMMPfam_Acyl-CoA_dh_N,superfamily_Acyl-CoA dehydrogenase NM domain-like CC2D1A 54862 genome.wustl.edu 37 19 14024095 14024095 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_017721.4 +1 reviewed p.R165C 0.999 23 0% 41 31.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00685 LPHN1 22859 genome.wustl.edu 37 19 14274004 14274004 + Silent SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001008701.2 -1 reviewed p.P208 1.000 118 0% 108 30.6% - - - - - HMMPfam_OLF,HMMSmart_SM00284 AKAP8 10270 genome.wustl.edu 37 19 15484714 15484714 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_005858.2 -1 reviewed p.C85Y 0.445 139 0% 160 19.4% - - possibly_damaging(0.828) deleterious(0) deleterious(0.758) superfamily_SSF56935 CPAMD8 27151 genome.wustl.edu 37 19 17122459 17122459 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_015692.2 -1 validated p.R173W 1.000 73 0% 86 30.2% - - benign(0.138) deleterious(0) neutral(0.456) HMMPfam_A2M_N MYO9B 4650 genome.wustl.edu 37 19 17305499 17305499 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_004145.3 +1 reviewed p.P1088L 0.000 41 2.4% 43 41.9% - - benign(0) tolerated(0.79) neutral(0.001) NULL FKBP8 23770 genome.wustl.edu 37 19 18652735 18652735 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_012181.3 -1 reviewed p.A16T 0.001 81 0% 84 35.7% - - unknown(0) tolerated(0.08) - NULL SUGP2 10147 genome.wustl.edu 37 19 19136053 19136053 + Silent SNP T T C novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001017392.3 -1 reviewed p.S368 0.460 4 0.000 21 0.476 - - - - - NULL ENSG00000221790 0 genome.wustl.edu 37 19 22785562 22785562 + RNA SNP C C A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 ENST00000408863 +1 novel NULL 0.017 43 0% 56 28.6% - - - - - - ZNF507 22847 genome.wustl.edu 37 19 32843945 32843945 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001136156.1 +1 validated p.R70H 1.000 57 0% 180 25.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ANKRD27 84079 genome.wustl.edu 37 19 33098591 33098591 + Missense_Mutation SNP C C T rs148333561 by1000genomes TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_032139.2 -1 validated p.A775T 0.001 61 0% 63 23.8% - - benign(0) tolerated(0.62) neutral(0.004) HMMPfam_Ank,superfamily_ANK ANKRD27 84079 genome.wustl.edu 37 19 33134038 33134038 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_032139.2 -1 validated p.P258L 1.000 184 0% 318 26.7% - - benign(0.351) deleterious(0.01) deleterious(0.517) superfamily_SSF109993 TDRD12 91646 genome.wustl.edu 37 19 33229900 33229900 + Splice_Site SNP T T C novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001110822.1 +1 validated e3+2 0.998 157 0% 313 31.9% - - - - - - KIAA0355 9710 genome.wustl.edu 37 19 34791796 34791796 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_014686.3 +1 validated p.A140T 1.000 66 0% 69 13% - - probably_damaging(0.955) deleterious(0.01) deleterious(0.804) NULL NFKBID 84807 genome.wustl.edu 37 19 36386974 36386974 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_139239.1 -1 provisional p.D172N 0.000 195 0.5% 308 29.5% - - benign(0) tolerated(0.08) neutral(0.300) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat SIPA1L3 23094 genome.wustl.edu 37 19 38643572 38643572 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_015073.1 +1 validated p.T1209I 1.000 88 0% 133 28.6% - - probably_damaging(0.959) tolerated(0.08) deleterious(0.703) NULL RYR1 6261 genome.wustl.edu 37 19 38990439 38990439 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_000540.2 +1 reviewed p.R2398C 1.000 53 0% 56 28.6% - - probably_damaging(0.993) - - NULL MAP4K1 11184 genome.wustl.edu 37 19 39100593 39100593 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_007181.4 -1 validated p.G295R 0.933 167 0% 257 27.6% - - possibly_damaging(0.907) tolerated(0.09) deleterious(0.657) superfamily_Kinase_like ENSG00000213926 0 genome.wustl.edu 37 19 39745758 39745758 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 ENST00000396851 -1 known p.R51H 0.264 33 0% 35 42.9% - - - - - HMMPfam_SelR,superfamily_Mss4-like DLL3 10683 genome.wustl.edu 37 19 39994847 39994847 + Silent SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_016941.3 +1 reviewed p.P263 0.001 101 0% 147 25.2% - - - - - NULL CYP2B6 1555 genome.wustl.edu 37 19 41522584 41522584 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_000767.4 +1 reviewed p.R443H 0.867 131 0% 205 22.9% - - possibly_damaging(0.734) deleterious(0) deleterious(0.713) HMMPfam_p450,superfamily_Cytochrome_P450 DMRTC2 63946 genome.wustl.edu 37 19 42351809 42351809 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001040283.1 +1 validated p.R77H 1.000 71 0% 104 26% - - probably_damaging(0.973) tolerated(0.35) neutral(0.435) HMMPfam_DM,HMMSmart_SM00301,superfamily_Cysteine-rich DNA binding domain (DM domain) ARHGEF1 9138 genome.wustl.edu 37 19 42398285 42398285 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_199002.1 +1 reviewed p.A232V 0.981 155 0% 235 25.1% - - probably_damaging(0.99) deleterious(0.02) deleterious(0.825) HMMPfam_RGS-like,superfamily_Regulat_G_prot_signal_superfam ZFP112 7771 genome.wustl.edu 37 19 44833835 44833835 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001083335.1 -1 validated p.G165S 0.184 69 0% 186 28% - - benign(0.004) tolerated(0.69) neutral(0.002) NULL PPP1R13L 10848 genome.wustl.edu 37 19 45895307 45895307 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001142502.1 -1 validated p.R549H 1.000 70 0% 66 25.8% - - unknown(0) deleterious(0.01) - NULL CCDC61 729440 genome.wustl.edu 37 19 46519482 46519482 + Splice_Site SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001080402.1 +1 provisional e9+1 1.000 26 0% 30 33.3% - - - - - - PPP5C 5536 genome.wustl.edu 37 19 46890686 46890686 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_006247.2 +1 provisional p.R371W 1.000 63 0% 99 30.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Metallophos,HMMSmart_SM00156,superfamily_Metallo-dependent phosphatases PRKD2 25865 genome.wustl.edu 37 19 47214265 47214265 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001079880.1 -1 reviewed p.R137H 1.000 49 0% 100 25% - - possibly_damaging(0.947) tolerated(0.1) deleterious(0.677) superfamily_Cysteine-rich domain GRIN2D 2906 genome.wustl.edu 37 19 48925087 48925087 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_000836.2 +1 reviewed p.V713M 1.000 74 0% 154 29.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Lig_chan,HMMSmart_PBPe,superfamily_SSF53850 KCNJ14 3770 genome.wustl.edu 37 19 48965069 48965069 + Missense_Mutation SNP G G T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_013348.2 +1 reviewed p.G30W 0.668 11 0% 14 42.9% - - probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL IZUMO1 284359 genome.wustl.edu 37 19 49244262 49244262 + Missense_Mutation SNP A A G novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_182575.2 -1 validated p.I319T 0.000 201 0% 295 26.1% - - benign(0.221) tolerated(0.24) neutral(0.059) NULL GYS1 2997 genome.wustl.edu 37 19 49473948 49473948 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_002103.4 -1 reviewed p.R555Q 1.000 60 0% 82 32.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Glycogen_syn,superfamily_SSF53756 AP2A1 160 genome.wustl.edu 37 19 50308789 50308789 + Silent SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_014203.2 +1 reviewed p.C830 0.988 40 0% 45 20% - - - - - HMMPfam_Alpha_adaptinC2,HMMSmart_SM00809,superfamily_Clathrin adaptor appendage domain SIGLEC5 8778 genome.wustl.edu 37 19 52133126 52133126 + Silent SNP T T C novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_003830.2 -1 validated p.K127 0.000 283 0% 505 28.9% - - - - - HMMSmart_IG,HMMPfam_V-set,superfamily_SSF48726 FPR3 2359 genome.wustl.edu 37 19 52327045 52327045 + Missense_Mutation SNP T T C novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_002030.3 +1 validated p.V15A 0.000 134 0% 221 24% - - benign(0.013) tolerated(0.54) neutral(0.008) superfamily_Family A G protein-coupled receptor-like ZNF766 90321 genome.wustl.edu 37 19 52793889 52793889 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001010851.2 +1 validated p.R282Q 0.000 113 0% 151 29.1% - - benign(0.078) tolerated(0.5) neutral(0.015) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers BIRC8 112401 genome.wustl.edu 37 19 53793229 53793229 + Missense_Mutation SNP C C A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_033341.3 -1 validated p.E133D 0.478 154 0% 554 26.5% - - possibly_damaging(0.533) tolerated(0.08) deleterious(0.480) superfamily_Inhibitor of apoptosis (IAP) repeat PPP6R1 22870 genome.wustl.edu 37 19 55758474 55758474 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 ENST00000443936 -1 known p.A62T 1.000 27 0% 26 26.9% - - - - - NULL IL11 3589 genome.wustl.edu 37 19 55877518 55877518 + Missense_Mutation SNP G G T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_000641.2 -1 reviewed p.P153T 0.027 6 0.000 14 0.429 - - benign(0.146) tolerated(0.98) neutral(0.013) HMMPfam_IL11 NLRP9 338321 genome.wustl.edu 37 19 56244537 56244537 + Silent SNP T T C novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_176820.2 -1 reviewed p.P220 0.036 71 0% 123 20.3% - - - - - HMMPfam_NACHT SNPH 9751 genome.wustl.edu 37 20 1276953 1276953 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 ENST00000381867 +1 known p.R24C 1.000 51 0% 108 30.6% - - probably_damaging(0.965) deleterious(0) deleterious(0.851) NULL SIRPB2 284759 genome.wustl.edu 37 20 1471921 1471921 + Missense_Mutation SNP C C A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001122962.1 -1 validated p.D29Y 0.992 87 0% 144 31.9% - - benign(0.386) tolerated(0.08) neutral(0.423) NULL TMC2 117532 genome.wustl.edu 37 20 2539271 2539271 + Silent SNP G G T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_080751.2 +1 validated p.G84 0.001 33 0% 71 16.9% - - - - - NULL ISM1 140862 genome.wustl.edu 37 20 13269261 13269261 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_080826.1 +1 validated p.R240W 1.000 131 0% 177 15.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TSP_1,HMMSmart_TSP1,superfamily_TSP1 TASP1 55617 genome.wustl.edu 37 20 13398143 13398143 + Silent SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_017714.2 -1 reviewed p.T374 0.260 254 0% 580 28.8% - - - - - superfamily_SSF56235 GZF1 64412 genome.wustl.edu 37 20 23350768 23350768 + Missense_Mutation SNP T T A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_022482.3 +1 validated p.I609N 1.000 82 0% 128 26.6% - - possibly_damaging(0.783) deleterious(0) deleterious(0.738) NULL ID1 3397 genome.wustl.edu 37 20 30193581 30193581 + Missense_Mutation SNP A A G novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_002165.2 +1 reviewed p.T131A 1.000 33 0% 55 27.3% - - benign(0.39) tolerated(0.25) neutral(0.162) superfamily_HLH helix-loop-helix DNA-binding domain DYNLRB1 83658 genome.wustl.edu 37 20 33122512 33122512 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_014183.2 +1 reviewed p.R54W 0.902 184 0% 282 33.7% - - benign(0.142) deleterious(0.01) neutral(0.418) HMMPfam_Robl_LC7 UQCC 55245 genome.wustl.edu 37 20 33969807 33969807 + Missense_Mutation SNP G G T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_018244.4 -1 reviewed p.P83T 0.458 110 0% 351 29.3% - - probably_damaging(0.998) tolerated(0.26) deleterious(0.508) NULL MYL9 10398 genome.wustl.edu 37 20 35176465 35176465 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_006097.3 +1 reviewed p.G72D 1.000 85 0% 93 29% - - benign(0) tolerated(0.34) neutral(0.023) superfamily_EF-hand ARHGAP40 343578 genome.wustl.edu 37 20 37255737 37255737 + Missense_Mutation SNP T T C novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 ENST00000373345 +1 known p.L93P 0.999 66 0% 113 31.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL SLC32A1 140679 genome.wustl.edu 37 20 37356451 37356451 + Silent SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_080552.2 +1 reviewed p.A249 0.998 146 0% 177 11.3% - - - - - HMMPfam_Aa_trans SLC32A1 140679 genome.wustl.edu 37 20 37356740 37356740 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_080552.2 +1 reviewed p.A346T 1.000 90 0% 96 33.3% - - benign(0.009) tolerated(0.09) neutral(0.297) HMMPfam_Aa_trans ZHX3 23051 genome.wustl.edu 37 20 39832108 39832108 + Silent SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 ENST00000421422 -1 known p.P192S 1.000 118 0% 202 29.2% - - - - - NULL PTPRT 11122 genome.wustl.edu 37 20 40739027 40739027 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_133170.3 -1 reviewed p.R1086H 1.000 85 0% 134 31.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II IFT52 51098 genome.wustl.edu 37 20 42223379 42223379 + Missense_Mutation SNP A A G novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_016004.2 +1 validated p.Y14C 1.000 119 0% 311 26.4% - - benign(0) tolerated(0.26) neutral(0.034) NULL MYBL2 4605 genome.wustl.edu 37 20 42320887 42320887 + Missense_Mutation SNP G G T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_002466.2 +1 reviewed p.K197N 0.986 55 0% 79 31.6% - - benign(0.005) tolerated(0.33) neutral(0.024) NULL JPH2 57158 genome.wustl.edu 37 20 42815023 42815023 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_020433.4 -1 reviewed p.G108D 1.000 127 0% 204 28.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MORN,HMMSmart_SM00698,superfamily_Histone H3 K4-specific methyltransferase SET7/9 N-terminal domain FITM2 128486 genome.wustl.edu 37 20 42935630 42935630 + Missense_Mutation SNP G G T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001080472.1 -1 provisional p.Q142K 0.000 192 0% 276 26.4% - - benign(0) tolerated(1) - HMMPfam_Scs3p TOMM34 10953 genome.wustl.edu 37 20 43571778 43571778 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_006809.4 -1 reviewed p.R301Q 0.659 279 0% 503 15.5% - - benign(0.004) tolerated(0.37) neutral(0.019) superfamily_Prenyl_trans ZSWIM3 140831 genome.wustl.edu 37 20 44505870 44505870 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_080752.2 +1 validated p.R225W 1.000 109 0% 206 28.6% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_MULE ZSWIM3 140831 genome.wustl.edu 37 20 44506882 44506882 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_080752.2 +1 validated p.R562Q 1.000 140 0% 149 30.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_ZnF_PMZ,HMMPfam_SWIM NPEPL1 79716 genome.wustl.edu 37 20 57289002 57289002 + Silent SNP G G A rs141269167 by1000genomes TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_024663.3 +1 validated p.A385 0.001 38 0% 62 32.3% - - - - - PatternScan_RCC1_2,HMMPfam_Peptidase_M17,superfamily_Zn-dependent exopeptidases GNAS 2778 genome.wustl.edu 37 20 57429287 57429287 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_080425.2 +1 reviewed p.V323I 1.000 39 2.6% 56 32.1% - - unknown(0) tolerated(0.11) - NULL CDH4 1002 genome.wustl.edu 37 20 60503310 60503310 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001794.2 +1 reviewed p.A612T 1.000 41 0% 57 15.8% - - benign(0.278) deleterious(0.01) neutral(0.435) HMMSmart_CA,PatternScan_CADHERIN_1,superfamily_Cadherin ABHD16B 140701 genome.wustl.edu 37 20 62493995 62493995 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_080622.3 +1 validated p.V368I 0.188 10 0% 17 47.1% - - possibly_damaging(0.67) tolerated(0.1) deleterious(0.524) superfamily_SSF53474 PRPF6 24148 genome.wustl.edu 37 20 62663358 62663358 + Missense_Mutation SNP G G T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_012469.3 +1 reviewed p.W878C 1.000 210 0.5% 309 29.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF48452 BACH1 571 genome.wustl.edu 37 21 30715070 30715070 + Silent SNP T T C novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001186.2 +1 reviewed p.A709 0.000 59 0% 114 36.8% - - - - - NULL KRTAP26-1 388818 genome.wustl.edu 37 21 31692151 31692151 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_203405.1 -1 validated p.P68L 0.983 151 0% 267 29.2% - - probably_damaging(1) tolerated(0.17) deleterious(0.559) HMMPfam_PMG KRTAP22-2 100288287 genome.wustl.edu 37 21 31962679 31962679 + Missense_Mutation SNP G G T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 ENST00000382830 -1 known p.H5Q 0.000 116 0% 235 28.9% - - benign(0.021) - - NULL DSCAM 1826 genome.wustl.edu 37 21 41427706 41427706 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001389.3 -1 validated p.D1661N 1.000 228 0% 500 28.6% - - probably_damaging(0.986) deleterious(0) deleterious(0.879) NULL MX2 4600 genome.wustl.edu 37 21 42767548 42767548 + Silent SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_002463.1 +1 reviewed p.G302 0.037 212 0% 334 29.9% - - - - - HMMSmart_DYNc,superfamily_SSF52540 C21orf2 755 genome.wustl.edu 37 21 45753026 45753026 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_004928.2 -1 validated p.R88H 0.997 38 0% 27 25.9% - - benign(0.261) tolerated(0.46) neutral(0.039) superfamily_Outer arm dynein light chain 1 SLC19A1 6573 genome.wustl.edu 37 21 46935906 46935906 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_194255.1 -1 validated p.A481V 0.000 21 0% 31 48.4% - - benign(0.002) tolerated(0.62) neutral(0.004) NULL YBEY 54059 genome.wustl.edu 37 21 47711367 47711367 + Silent SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_058181.1 +1 validated p.D110 0.000 200 0% 282 25.9% - - - - - "HMMPfam_UPF0054,superfamily_Metalloproteases (""zincins"") catalytic domain" C22orf25 128989 genome.wustl.edu 37 22 20043531 20043531 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_152906.4 +1 validated p.T149M 0.020 246 0% 321 23.7% - - possibly_damaging(0.768) tolerated(0.06) deleterious(0.607) HMMPfam_DUF833 DGCR6L 85359 genome.wustl.edu 37 22 20302286 20302286 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_033257.2 -1 reviewed p.R192Q 0.039 66 0% 109 37.6% - - benign(0.009) tolerated(0.79) neutral(0.002) HMMPfam_DGCR6 ZNF74 7625 genome.wustl.edu 37 22 20759891 20759891 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_003426.2 +1 validated p.R190C 0.001 52 0% 89 32.6% - - unknown(0) - - NULL LZTR1 8216 genome.wustl.edu 37 22 21348942 21348942 + Missense_Mutation SNP G G A rs5761750 TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_006767.3 +1 reviewed p.E571K 1.000 103 0% 125 26.4% - - benign(0.032) tolerated(0.58) neutral(0.007) HMMSmart_SM00225,superfamily_POZ domain HIC2 23119 genome.wustl.edu 37 22 21800636 21800636 + Silent SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_015094.2 +1 validated p.A484 0.020 30 0% 44 25% - - - - - NULL GGT5 2687 genome.wustl.edu 37 22 24628803 24628803 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001099781.1 -1 reviewed p.A195V 0.000 43 0% 66 25.8% - - benign(0.03) tolerated(0.27) neutral(0.035) HMMPfam_G_glu_transpept MYO18B 84700 genome.wustl.edu 37 22 26423043 26423043 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_032608.5 +1 reviewed p.P2368L 0.064 68 0% 123 26.8% - - possibly_damaging(0.934) deleterious(0) deleterious(0.825) NULL EWSR1 2130 genome.wustl.edu 37 22 29694725 29694733 + In_Frame_Del DEL CCAGGAGGC CCAGGAGGC - novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 CCAGGAGGC CCAGGAGGC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_005243.3 +1 reviewed p.PGG477in_frame_del 1.000:1.000:0.962:0.995:0.992:0.725:0.997:1.000:1.000 - - - - - - - - - superfamily_RNA-binding domain RBD AP1B1 162 genome.wustl.edu 37 22 29726515 29726515 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001127.3 -1 reviewed p.A873V 0.971 60 0% 80 23.7% - - benign(0) tolerated(1) - superfamily_Subdomain of clathrin and coatomer appendage domain,HMMPfam_B2-adapt-app_C RNF215 200312 genome.wustl.edu 37 22 30776163 30776163 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001017981.1 -1 validated p.R299K 0.974 73 0% 81 45.7% - - probably_damaging(0.971) tolerated(0.07) deleterious(0.732) NULL KCNJ4 3761 genome.wustl.edu 37 22 38824085 38824085 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_004981.1 -1 reviewed p.R18H 1.000 152 0% 157 34.4% - - probably_damaging(1) deleterious(0.02) deleterious(0.883) superfamily_SSF81324 GTPBP1 9567 genome.wustl.edu 37 22 39122110 39122110 + Silent SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_004286.4 +1 reviewed p.E391 1.000 174 0% 321 32.1% - - - - - superfamily_Translat_factor,superfamily_SSF52540 ACO2 50 genome.wustl.edu 37 22 41911780 41911780 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001098.2 +1 reviewed p.V232M 1.000 170 0% 194 28.9% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Aconitase,superfamily_Aconitase_N MEI1 150365 genome.wustl.edu 37 22 42180355 42180356 + Frame_Shift_Del DEL CT CT - novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 CT CT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_152513.3 +1 validated p.S1035fs 0.088:0.095 - - - - - - - - - NULL SREBF2 6721 genome.wustl.edu 37 22 42271662 42271662 + Silent SNP C C A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_004599.2 +1 reviewed p.S440 0.970 102 0% 206 25.7% - - - - - NULL EFCAB6 64800 genome.wustl.edu 37 22 44079700 44079700 + Missense_Mutation SNP A A C novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_022785.2 -1 validated p.I393S 0.000 420 0% 916 28.5% - - possibly_damaging(0.81) deleterious(0) deleterious(0.750) NULL SAMM50 25813 genome.wustl.edu 37 22 44386233 44386233 + Silent SNP C C A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_015380.4 +1 validated p.I437 0.619 96 0% 158 28.5% - - - - - HMMPfam_Bac_surface_Ag SCO2 9997 genome.wustl.edu 37 22 50962076 50962076 + Silent SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_005138.2 -1 reviewed p.R255 0.396 75 0% 109 33.9% - - - - - superfamily_Thiordxn-like_fd PPP2R3B 28227 genome.wustl.edu 37 X 295123 295123 + Silent SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_013239.4 -1 reviewed p.D569 0.903 23 0% 17 29.4% - - - - - NULL AKAP17A 8227 genome.wustl.edu 37 X 1718117 1718117 + Missense_Mutation SNP A A C novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_005088.2 +1 validated p.E315A 1.000 142 0% 229 28.8% - - unknown(0) deleterious(0.02) - NULL ZBED1 9189 genome.wustl.edu 37 X 2408423 2408423 + Missense_Mutation SNP T T C novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_004729.3 -1 reviewed p.K113R 0.013 150 0% 207 26.1% - - possibly_damaging(0.605) tolerated(0.34) neutral(0.232) NULL MXRA5 25878 genome.wustl.edu 37 X 3235793 3235793 + Missense_Mutation SNP T T C novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_015419.3 -1 reviewed p.T1977A 0.015 120 0% 151 29.8% - - possibly_damaging(0.495) tolerated(0.15) neutral(0.406) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin MXRA5 25878 genome.wustl.edu 37 X 3240251 3240251 + Missense_Mutation SNP G G T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_015419.3 -1 reviewed p.P1159T 0.025 297 0% 754 27.6% - - benign(0.001) deleterious(0) neutral(0.445) NULL TMEM27 57393 genome.wustl.edu 37 X 15677154 15677154 + Missense_Mutation SNP T T C novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_020665.4 -1 reviewed p.N63S 1.000 190 0% 482 25.9% - - benign(0.001) tolerated(0.89) - NULL PHKA2 5256 genome.wustl.edu 37 X 18942595 18942595 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_000292.2 -1 reviewed p.V540M 1.000 128 0% 195 26.2% - - possibly_damaging(0.819) deleterious(0.01) deleterious(0.715) HMMPfam_PHK_AB KLHL34 257240 genome.wustl.edu 37 X 21674364 21674364 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_153270.1 -1 provisional p.A515T 1.000 22 0% 30 33.3% - - probably_damaging(1) tolerated(0.12) deleterious(0.760) HMMPfam_Kelch_1,HMMSmart_Kelch,superfamily_Gal_oxid_central GK 2710 genome.wustl.edu 37 X 30712617 30712617 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001128127.1 +1 reviewed p.R172Q 1.000 120 0% 488 30.7% - - probably_damaging(1) tolerated(0.14) deleterious(0.750) HMMPfam_FGGY_N,superfamily_SSF53067 BCOR 54880 genome.wustl.edu 37 X 39913223 39913223 + Missense_Mutation SNP T T A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001123385.1 -1 reviewed p.D1631V 0.969 84 0% 216 29.6% - - possibly_damaging(0.859) deleterious(0) deleterious(0.776) NULL USP9X 8239 genome.wustl.edu 37 X 40994075 40994075 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001039590.2 +1 reviewed p.W140* 1.000 249 0% 719 30.2% - - - - - NULL DDX3X 1654 genome.wustl.edu 37 X 41201786 41201786 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001356.3 +1 reviewed p.G108D 1.000 209 0% 517 26.7% - - probably_damaging(0.985) tolerated(0.06) deleterious(0.754) NULL TFE3 7030 genome.wustl.edu 37 X 48895836 48895836 + Silent SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_006521.4 -1 reviewed p.P222 0.004 74 0% 96 36.5% - - - - - NULL TFE3 7030 genome.wustl.edu 37 X 48896669 48896669 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_006521.4 -1 reviewed p.R166H 0.998 73 0% 130 33.1% - - probably_damaging(1) tolerated(0.55) deleterious(0.507) NULL TSPYL2 64061 genome.wustl.edu 37 X 53114262 53114262 + Missense_Mutation SNP A A G novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_022117.3 +1 reviewed p.E375G 1.000 100 0% 248 32.7% - - probably_damaging(0.995) tolerated(0.19) deleterious(0.507) HMMPfam_NAP FAM120C 54954 genome.wustl.edu 37 X 54209309 54209309 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_017848.4 -1 validated p.P108L 1.000 8 0.000 14 0.357 - - unknown(0) deleterious(0) - NULL ZMYM3 9203 genome.wustl.edu 37 X 70464193 70464193 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_005096.3 -1 reviewed p.A1080V 1.000 270 0% 453 30.7% - - possibly_damaging(0.832) deleterious(0.02) deleterious(0.700) NULL NAP1L2 4674 genome.wustl.edu 37 X 72434159 72434159 + Missense_Mutation SNP T T C novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_021963.2 -1 reviewed p.E57G 0.001 161 0.6% 288 29.5% - - benign(0.143) tolerated(0.26) neutral(0.046) NULL ABCB7 22 genome.wustl.edu 37 X 74280154 74280154 + Silent SNP A A G novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_004299.3 -1 reviewed p.G650 0.997 151 0.7% 369 27.1% - - - - - HMMPfam_ABC_tran,HMMSmart_AAA,superfamily_SSF52540 CXorf26 51260 genome.wustl.edu 37 X 75393002 75393002 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_016500.3 +1 predicted p.P10L 0.048 186 0% 313 29.1% - - benign(0.001) tolerated(0.42) neutral(0.014) NULL ATP7A 538 genome.wustl.edu 37 X 77268478 77268478 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_000052.4 +1 reviewed p.A759T 1.000 369 0% 617 30.8% - - benign(0) tolerated(0.43) neutral(0.013) NULL ATP7A 538 genome.wustl.edu 37 X 77296087 77296087 + Splice_Site SNP A A G novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_000052.4 +1 reviewed e18-2 1.000 156 0% 352 24.7% - - - - - - PCDH11X 27328 genome.wustl.edu 37 X 91133380 91133380 + Missense_Mutation SNP G G T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_032968.3 +1 reviewed p.S714I 1.000 191 1% 327 26.6% - - probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like RAB40AL 282808 genome.wustl.edu 37 X 102192748 102192748 + Missense_Mutation SNP A A G novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001031834.1 +1 reviewed p.T168A 1.000 133 0% 176 22.7% - - possibly_damaging(0.67) tolerated(0.49) neutral(0.248) HMMSmart_RAB,HMMPfam_Ras,superfamily_SSF52540 NRK 203447 genome.wustl.edu 37 X 105153256 105153256 + Silent SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_198465.2 +1 validated p.R541 0.000 90 0% 161 30.4% - - - - - NULL COL4A6 1288 genome.wustl.edu 37 X 107400307 107400307 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001847.2 -1 reviewed p.P1667S 0.997 130 0% 215 30.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_C4,HMMSmart_SM00111,superfamily_C-type lectin-like RBMXL3 139804 genome.wustl.edu 37 X 114425733 114425733 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001145346.1 +1 validated p.D577N 0.990 97 0% 131 32.1% - - possibly_damaging(0.507) deleterious(0) deleterious(0.614) NULL LOC653155 653155 genome.wustl.edu 37 X 115882529 115882529 + Missense_Mutation SNP A A G novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 XM_926254.3 -1 model p.L102P 1.000 74 0% 273 30.4% - - - - - HMMPfam_Pkinase DOCK11 139818 genome.wustl.edu 37 X 117700604 117700604 + Silent SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_144658.3 +1 validated p.P313 0.993 168 0% 367 31.3% - - - - - NULL LONRF3 79836 genome.wustl.edu 37 X 118123614 118123614 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_001031855.1 +1 reviewed p.P435S 0.003 59 0% 165 22.4% - - benign(0) tolerated(0.16) neutral(0.059) superfamily_TPR-like ODZ1 10178 genome.wustl.edu 37 X 123805670 123805670 + Missense_Mutation SNP C C A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_014253.3 -1 reviewed p.G344V 1.000 159 0% 333 28.5% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL SMARCA1 6594 genome.wustl.edu 37 X 128631868 128631868 + Silent SNP A A T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_003069.3 -1 reviewed p.G486 1.000 115 0% 305 32.8% - - - - - superfamily_P-loop containing nucleoside triphosphate hydrolases ARHGAP36 158763 genome.wustl.edu 37 X 130222641 130222641 + Missense_Mutation SNP G G A rs182540216 by1000genomes TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_144967.3 +1 validated p.R509H 0.983 88 0% 179 27.4% - - benign(0.001) tolerated(0.26) neutral(0.034) NULL LOC650024 650024 genome.wustl.edu 37 X 134345922 134345922 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 XM_001715421.2 +1 model p.P58L 0.000 29 0% 93 25.8% - - - - - NULL MMGT1 93380 genome.wustl.edu 37 X 135047191 135047191 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_173470.1 -1 provisional p.R130C 1.000 107 0% 310 32.3% - - unknown(0) deleterious(0) - NULL F9 2158 genome.wustl.edu 37 X 138633297 138633297 + Silent SNP G G T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_000133.3 +1 reviewed p.V199 0.000 179 0% 484 25.6% - - - - - NULL MTM1 4534 genome.wustl.edu 37 X 149787586 149787586 + Missense_Mutation SNP T T C novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_000252.2 +1 reviewed p.Y140H 0.960 162 0% 278 31.3% - - benign(0.001) tolerated(0.37) neutral(0.019) superfamily_SSF50729 PDZD4 57595 genome.wustl.edu 37 X 153069158 153069158 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_032512.2 -1 provisional p.R654W 0.998 48 0% 67 29.9% - - probably_damaging(0.997) deleterious(0.01) deleterious(0.872) NULL ARHGAP4 393 genome.wustl.edu 37 X 153174959 153174959 + Silent SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 ENST00000454164 -1 known p.C237Y 0.003 50 0% 56 23.2% - - - - - NULL UBL4A 8266 genome.wustl.edu 37 X 153714303 153714303 + Missense_Mutation SNP G G A novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_014235.3 -1 provisional p.S57L 0.717 115 0% 142 28.2% - - probably_damaging(0.978) deleterious(0) deleterious(0.865) HMMPfam_ubiquitin,HMMSmart_SM00213,superfamily_Ubiquitin-like BRCC3 79184 genome.wustl.edu 37 X 154301689 154301689 + Missense_Mutation SNP C C T novel TCGA-B5-A0K9-01A-21D-A10O-09 TCGA-B5-A0K9-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3b8b4f97-eaa3-4ec9-adb1-28f0654b2b68 1e10a65e-fca9-4e29-89df-f0de0094b775 NM_024332.2 +1 reviewed p.R60C 0.896 177 0% 478 25.5% - - benign(0.007) tolerated(0.2) neutral(0.049) HMMPfam_Mov34,HMMSmart_SM00232,superfamily_JAB1/MPN domain