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 SDF4 51150 genome.wustl.edu 37 1 1153095 1153095 + Silent SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_016547.2 -1 validated p.T334 0.000 80 0% 68 42.6% 7 0% - - - NULL ICMT 23463 genome.wustl.edu 37 1 6285239 6285241 + In_Frame_Del DEL TTC TTC - novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 TTC TTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_012405.3 -1 reviewed p.E252in_frame_del 0.986:1.000:1.000 - - - - - - - - - HMMPfam_ICMT ICMT 23463 genome.wustl.edu 37 1 6285299 6285299 + Silent SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_012405.3 -1 reviewed p.C232 0.650 68 0% 77 48.1% 63 42.8% - - - HMMPfam_ICMT PARK7 11315 genome.wustl.edu 37 1 8022901 8022901 + Missense_Mutation SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_001123377.1 +1 reviewed p.T19M 0.999 147 0% 159 18.9% 414 28.7% probably_damaging(1) tolerated(0.2) deleterious(0.549) superfamily_Class I glutamine amidotransferase-like CROCC 9696 genome.wustl.edu 37 1 17279909 17279909 + Missense_Mutation SNP A A G novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_014675.3 +1 validated p.E1040G 1.000 15 0% 26 38.5% 4 0% unknown(0) tolerated(0.2) - NULL RCC2 55920 genome.wustl.edu 37 1 17740148 17740148 + Silent SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_001136204.1 -1 validated p.H364 1.000 54 0% 54 24.1% 157 34.3% - - - superfamily_RCC1/BLIP-II UBR4 23352 genome.wustl.edu 37 1 19514000 19514000 + Missense_Mutation SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_020765.2 -1 validated p.A477T 1.000 344 0% 310 27.4% 8 12.5% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL C1orf201 90529 genome.wustl.edu 37 1 24700231 24700232 + Frame_Shift_Del DEL TT TT - novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 TT TT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_178122.3 -1 predicted p.G132fs 0.966:0.150 - - - - - - - - - NULL UBXN11 91544 genome.wustl.edu 37 1 26627422 26627422 + Missense_Mutation SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_183008.2 -1 reviewed p.R65Q 0.946 175 0% 174 45.4% 6 33.3% possibly_damaging(0.729) tolerated(0.33) neutral(0.290) NULL EPB41 2035 genome.wustl.edu 37 1 29344900 29344900 + Missense_Mutation SNP C C G novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_203343.2 +1 reviewed p.P322R 1.000 198 0% 179 16.2% 9 11.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_FERM_M,superfamily_FERM_3-hlx,HMMSmart_B41 SRSF4 6429 genome.wustl.edu 37 1 29475308 29475308 + Missense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_005626.4 -1 reviewed p.R367C 0.951 150 0% 159 38.4% 101 43.5% unknown(0) deleterious(0) - NULL BAI2 576 genome.wustl.edu 37 1 32209880 32209880 + Missense_Mutation SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_001703.2 -1 reviewed p.R334H 1.000 49 0% 60 10% 1 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat MACF1 23499 genome.wustl.edu 37 1 39751388 39751388 + Missense_Mutation SNP T T C novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_012090.3 +1 reviewed p.L494P 1.000 109 0% 114 14.9% 7 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL RIMS3 9783 genome.wustl.edu 37 1 41101708 41101708 + Missense_Mutation SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_014747.2 -1 validated p.R80H 1.000 53 0% 34 50% 0 - possibly_damaging(0.941) deleterious(0) deleterious(0.831) NULL GLIS1 148979 genome.wustl.edu 37 1 53974823 53974823 + Missense_Mutation SNP G G T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_147193.2 -1 validated p.H559N 0.994 34 0% 17 35.3% 0 - benign(0.079) tolerated(1) neutral(0.005) NULL USP24 23358 genome.wustl.edu 37 1 55560928 55560929 + Frame_Shift_Del DEL AG AG - novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_015306.2 -1 validated p.L1908fs 1.000:0.999 - - - - - - - - - NULL ATG4C 84938 genome.wustl.edu 37 1 63269478 63269478 + Silent SNP T T C novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_032852.2 +1 reviewed p.D7 1.000 223 0% 205 33.7% 7 14.2% - - - NULL JAK1 3716 genome.wustl.edu 37 1 65307173 65307173 + Nonsense_Mutation SNP G G A rs181919006 by1000genomes TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_002227.2 -1 reviewed p.R839* 1.000 207 0% 173 14.5% 22 4.5% - - - HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like ZNF326 284695 genome.wustl.edu 37 1 90486387 90486387 + Missense_Mutation SNP C C G novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_182976.2 +1 validated p.T404R 1.000 439 0% 386 41.5% 20 30% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) HMMPfam_AKAP95 MAN1A2 10905 genome.wustl.edu 37 1 118042064 118042064 + Missense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_006699.3 +1 validated p.R522Q 1.000 90 0% 103 16.5% 29 34.4% possibly_damaging(0.459) tolerated(0.1) neutral(0.437) HMMPfam_Glyco_hydro_47,superfamily_Glyco_hydro_47 HIST2H3PS2 440686 genome.wustl.edu 37 1 149400315 149400315 + Silent SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 ENST00000369176 -1 known p.A76 1.000 55 0% 78 12.8% 0 - - - - HMMSmart_H3,HMMPfam_Histone,superfamily_Histone-fold CERS2 29956 genome.wustl.edu 37 1 150939873 150939873 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_022075.3 -1 reviewed p.R203* 1.000 171 0% 186 42.5% 53 3.7% - - - HMMPfam_TRAM_LAG1_CLN8,HMMSmart_SM00724 CGN 57530 genome.wustl.edu 37 1 151491704 151491704 + Missense_Mutation SNP T T G novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_020770.2 +1 validated p.S237A 0.002 15 0% 22 31.8% 30 30% benign(0.002) tolerated(0.4) neutral(0.016) NULL FLAD1 80308 genome.wustl.edu 37 1 154962066 154962066 + Missense_Mutation SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_025207.4 +1 reviewed p.A383V 1.000 66 0% 52 17.3% 46 10.8% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) superfamily_Adenine nucleotide alpha hydrolases-like TTC24 164118 genome.wustl.edu 37 1 156553623 156553623 + Missense_Mutation SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_001105669.2 +1 provisional p.A116V 1.000 20 0% 26 34.6% 0 - probably_damaging(0.982) tolerated(0.08) deleterious(0.726) superfamily_TPR-like COPA 1314 genome.wustl.edu 37 1 160278942 160278942 + Missense_Mutation SNP T T A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_001098398.1 -1 reviewed p.T390S 1.000 372 0% 347 16.4% 92 13% possibly_damaging(0.655) tolerated(0.58) neutral(0.236) HMMPfam_Coatomer_WDAD PVRL4 81607 genome.wustl.edu 37 1 161043570 161043570 + Silent SNP G G T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_030916.2 -1 validated p.T391 0.774 100 0% 75 36% 28 50% - - - NULL MYOC 4653 genome.wustl.edu 37 1 171605331 171605331 + Missense_Mutation SNP A A G novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_000261.1 -1 reviewed p.W417R 1.000 333 0% 290 41% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_OLF,HMMSmart_SM00284 HMCN1 83872 genome.wustl.edu 37 1 186113408 186113408 + Silent SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_031935.2 +1 reviewed p.A4676 0.000 141 0% 138 17.4% 0 - - - - HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat RGS13 6003 genome.wustl.edu 37 1 192627431 192627431 + Silent SNP G G C rs41300867 byCluster;byFrequency;by1000genomes TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_002927.3 +1 reviewed p.R76 0.000 264 0% 175 40.6% 0 - - - - HMMPfam_RGS,HMMSmart_RGS,superfamily_Regulat_G_prot_signal_superfam ASPM 259266 genome.wustl.edu 37 1 197060167 197060167 + Missense_Mutation SNP C C A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_018136.4 -1 reviewed p.W3150L 1.000 214 0% 196 42.3% 10 60% possibly_damaging(0.943) tolerated(0.3) neutral(0.416) HMMSmart_SM00015,superfamily_P-loop containing nucleoside triphosphate hydrolases ASPM 259266 genome.wustl.edu 37 1 197112407 197112407 + Silent SNP A A G novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_018136.4 -1 reviewed p.S325 0.000 137 0% 105 32.4% 0 - - - - NULL ZC3H11A 9877 genome.wustl.edu 37 1 203821319 203821319 + Missense_Mutation SNP T T C novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_014827.4 +1 validated p.V742A 0.129 152 0% 132 15.2% 33 15.1% benign(0.013) tolerated(0.95) neutral(0.001) NULL USH2A 7399 genome.wustl.edu 37 1 215963616 215963616 + Missense_Mutation SNP A A G novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_206933.2 -1 reviewed p.C3323R 1.000 279 0% 250 17.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00060,superfamily_Fibronectin type III USH2A 7399 genome.wustl.edu 37 1 216465529 216465529 + Missense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_206933.2 -1 reviewed p.H610Y 0.989 190 0.5% 183 42.6% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Laminin_EGF,HMMSmart_SM00180,PatternScan_EGF_LAM_1,superfamily_Concanavalin A-like lectins/glucanases,superfamily_EGF/Laminin TGFB2 7042 genome.wustl.edu 37 1 218614676 218614676 + Missense_Mutation SNP T T C novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_001135599.1 +1 validated p.M434T 1.000 311 0% 270 39.3% 5 60% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TGF_beta,HMMSmart_SM00204,superfamily_Cystine-knot cytokines ZNF678 339500 genome.wustl.edu 37 1 227842094 227842094 + Missense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_178549.3 +1 validated p.C48Y 0.001 224 0% 149 11.4% 0 - benign(0) tolerated(1) - NULL OBSCN 84033 genome.wustl.edu 37 1 228475547 228475547 + Missense_Mutation SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_001098623.1 +1 reviewed p.R3233C 1.000 72 0% 65 41.5% 1 100% probably_damaging(1) tolerated(0.21) deleterious(0.544) HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin NUP133 55746 genome.wustl.edu 37 1 229625821 229625821 + Missense_Mutation SNP A A T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_018230.2 -1 reviewed p.W359R 0.995 117 0% 110 14.5% 18 11.1% probably_damaging(0.998) tolerated(0.33) deleterious(0.498) HMMPfam_Nup133_N KIAA1383 54627 genome.wustl.edu 37 1 232942321 232942321 + Missense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_019090.2 +1 validated p.G518R 0.872 230 0% 232 36.6% 0 - probably_damaging(1) tolerated(0.08) deleterious(0.800) NULL AKT3 10000 genome.wustl.edu 37 1 243708875 243708875 + Silent SNP T T C novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_005465.3 -1 reviewed p.A396 0.975 364 0% 291 13.4% 0 - - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase ATP6V1C2 245973 genome.wustl.edu 37 2 10912735 10912738 + Frame_Shift_Del DEL AAGT AAGT - novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 AAGT AAGT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_001039362.1 +1 reviewed p.K213fs 1.000:1.000 - - - - - - - - - HMMPfam_V-ATPase_C OTOF 9381 genome.wustl.edu 37 2 26699804 26699804 + Missense_Mutation SNP C C A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_194248.2 -1 reviewed p.E877D 1.000 41 0% 42 52.4% 0 - possibly_damaging(0.755) tolerated(0.1) deleterious(0.565) HMMPfam_FerB EMILIN1 11117 genome.wustl.edu 37 2 27306219 27306219 + Missense_Mutation SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_007046.3 +1 reviewed p.R594C 1.000 20 0% 25 24% 2 0% probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL KCNG3 170850 genome.wustl.edu 37 2 42671674 42671674 + Silent SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_133329.4 -1 reviewed p.I237 0.526 88 0% 99 10.1% 3 33.3% - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels CCDC104 112942 genome.wustl.edu 37 2 55756098 55756099 + Frame_Shift_Ins INS - - A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_080667.5 +1 validated p.A124fs 1.000:1.000 - - - - - - - - - NULL CCDC104 112942 genome.wustl.edu 37 2 55771199 55771199 + Missense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_080667.5 +1 validated p.G256R 1.000 232 0% 220 40.9% 108 25.9% probably_damaging(1) tolerated(0.06) deleterious(0.823) NULL PAPOLG 64895 genome.wustl.edu 37 2 61021251 61021251 + Silent SNP T T C novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_022894.2 +1 reviewed p.T638 0.983 156 0% 168 13.7% 6 16.6% - - - NULL DYSF 8291 genome.wustl.edu 37 2 71742771 71742771 + Missense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_001130987.1 +1 reviewed p.E260K 0.999 77 1.3% 58 32.8% 1 0% benign(0.011) deleterious(0.02) neutral(0.384) HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB POLR1A 25885 genome.wustl.edu 37 2 86297362 86297362 + Silent SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_015425.3 -1 validated p.L549 0.844 113 0% 160 27.5% 17 23.5% - - - HMMPfam_RNA_pol_Rpb1_2,HMMSmart_SM00663,superfamily_beta and beta-prime subunits of DNA dependent RNA-polymerase ITPRIPL1 150771 genome.wustl.edu 37 2 96992669 96992669 + Silent SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 ENST00000420728 +1 known p.A132V 0.989 222 0% 218 14.7% 1 0% - - - NULL VWA3B 200403 genome.wustl.edu 37 2 98928448 98928448 + Missense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_144992.4 +1 provisional p.G1230S 0.000 19 0% 30 40% 3 0% benign(0.002) deleterious(0) neutral(0.445) NULL TSGA10 80705 genome.wustl.edu 37 2 99681583 99681583 + Missense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_025244.2 -1 validated p.S408F 1.000 272 0% 256 22.3% 5 0% benign(0.141) deleterious(0.02) neutral(0.395) NULL EIF5B 9669 genome.wustl.edu 37 2 100010862 100010862 + Splice_Site SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_015904.3 +1 reviewed e19+1 1.000 215 0.9% 218 21.1% 2 50% - - - - SLC20A1 6574 genome.wustl.edu 37 2 113416607 113416608 + Frame_Shift_Del DEL AG AG - novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_005415.3 +1 provisional p.R332fs 0.023:0.531 - - - - - - - - - HMMPfam_PHO4 LOC100130100 100130100 genome.wustl.edu 37 2 114164596 114164596 + Missense_Mutation SNP T T C novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 XM_001716615.1 +1 model p.M167T 0.024 31 0% 36 19.4% 0 - - - - NULL IWS1 55677 genome.wustl.edu 37 2 128261122 128261122 + Missense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_017969.2 -1 validated p.A417V 1.000 312 0% 300 46% 44 52.2% benign(0.005) tolerated(0.27) neutral(0.034) NULL GALNT13 114805 genome.wustl.edu 37 2 154801034 154801034 + Missense_Mutation SNP G G C novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_052917.2 +1 validated p.K8N 1.000 204 0% 157 35.7% 0 - probably_damaging(0.971) deleterious(0.01) deleterious(0.819) NULL NOSTRIN 115677 genome.wustl.edu 37 2 169688035 169688035 + Silent SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_001039724.3 +1 validated p.Q132 1.000 233 0% 246 12.6% 3 0% - - - NULL C2orf77 129881 genome.wustl.edu 37 2 170518876 170518876 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_001085447.1 -1 validated p.R245* 1.000 614 0% 460 36.3% 1 0% - - - NULL SLC25A12 8604 genome.wustl.edu 37 2 172650266 172650266 + Silent SNP A A G novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_003705.3 -1 reviewed p.S439 0.996 74 0% 87 43.7% 8 50% - - - superfamily_Mitoch_carrier,HMMPfam_Mito_carr TTN 7273 genome.wustl.edu 37 2 179404351 179404351 + Missense_Mutation SNP C C A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 ENST00000356127 -1 known p.R30244M 1.000 190 0% 172 26.7% 2 0% probably_damaging(0.993) - - HMMPfam_fn3,HMMSmart_SM00060 NEUROD1 4760 genome.wustl.edu 37 2 182543447 182543447 + Silent SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_002500.2 -1 reviewed p.N47 0.008 446 0% 329 44.1% 0 - - - - NULL PARD3B 117583 genome.wustl.edu 37 2 205978222 205978222 + Missense_Mutation SNP A A G novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_152526.4 +1 validated p.T201A 1.000 466 0% 390 44.1% 5 60% benign(0.207) tolerated(0.07) neutral(0.339) superfamily_PDZ ABCA12 26154 genome.wustl.edu 37 2 215798827 215798827 + Missense_Mutation SNP A A G novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_173076.2 -1 reviewed p.L2552S 1.000 306 0% 215 47% 0 - benign(0.002) tolerated(1) - NULL TNS1 7145 genome.wustl.edu 37 2 218712265 218712265 + Missense_Mutation SNP T T G novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_022648.4 -1 reviewed p.N867T 1.000 153 0% 139 18.7% 4 25% possibly_damaging(0.833) deleterious(0) deleterious(0.762) NULL NCL 4691 genome.wustl.edu 37 2 232324994 232324994 + Silent SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_005381.2 -1 reviewed p.P303 0.242 189 0% 192 27.6% 463 36.9% - - - superfamily_SSF54928 SH3BP4 23677 genome.wustl.edu 37 2 235949779 235949779 + Silent SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_014521.2 +1 reviewed p.S122 0.996 157 0% 191 28.3% 60 23.3% - - - NULL ILKAP 80895 genome.wustl.edu 37 2 239096822 239096822 + Silent SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_030768.2 -1 reviewed p.H125 0.939 133 0% 139 18% 28 17.8% - - - HMMSmart_PP2C_SIG,HMMSmart_PP2Cc,superfamily_PP2C-related,HMMPfam_PP2C PASK 23178 genome.wustl.edu 37 2 242076594 242076594 + Missense_Mutation SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_015148.2 -1 validated p.S321N 0.000 63 0% 49 32.7% 10 40% possibly_damaging(0.527) deleterious(0.04) deleterious(0.527) NULL KCNH8 131096 genome.wustl.edu 37 3 19436652 19436652 + Silent SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_144633.2 +1 reviewed p.L342 1.000 163 0% 139 33.8% 0 - - - - HMMPfam_Ion_trans,superfamily_SSF81324 TOP2B 7155 genome.wustl.edu 37 3 25654035 25654035 + Missense_Mutation SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_001068.2 -1 reviewed p.A1248T 1.000 276 0% 208 34.6% 147 51% probably_damaging(1) tolerated(0.15) deleterious(0.741) NULL TRAK1 22906 genome.wustl.edu 37 3 42229564 42229564 + Missense_Mutation SNP A A G novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_001042646.1 +1 validated p.M170V 1.000 125 0% 114 17.5% 24 16.6% benign(0.253) tolerated(0.43) neutral(0.040) HMMPfam_HAP1_N AMT 275 genome.wustl.edu 37 3 49456432 49456432 + Silent SNP A A G novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 ENST00000427987 -1 known p.C281R 0.999 41 0% 32 37.5% 5 0% - - - HMMPfam_GCV_T,superfamily_Aminomethyltransferase folate-binding domain ZMYND10 51364 genome.wustl.edu 37 3 50379081 50379081 + Missense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_015896.2 -1 validated p.R391W 0.986 98 0% 98 14.3% 33 24.2% probably_damaging(0.985) deleterious(0.02) deleterious(0.815) NULL NPRL2 10641 genome.wustl.edu 37 3 50385996 50385997 + Splice_Site INS - - GA novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_006545.4 -1 validated e7-2 1.000:0.829 - - - - - - - - - - RFT1 91869 genome.wustl.edu 37 3 53159945 53159945 + Silent SNP G G T rs148510042 TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_052859.3 -1 reviewed p.I43 0.011 189 0.5% 239 44.8% 12 33.3% - - - HMMPfam_Rft-1 ENSG00000222888 0 genome.wustl.edu 37 3 53916232 53916232 + RNA SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 ENST00000410956 -1 novel NULL 0.001 20 0% 23 34.8% 0 - - - - - HTR1F 3355 genome.wustl.edu 37 3 88040986 88040986 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_000866.3 +1 validated p.R363* 1.000 115 0% 83 33.7% 0 - - - - superfamily_SSF81321 B4GALT4 8702 genome.wustl.edu 37 3 118937578 118937578 + Missense_Mutation SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_003778.3 -1 reviewed p.S239N 1.000 302 0% 291 13.4% 50 8% benign(0.37) tolerated(0.06) neutral(0.440) HMMPfam_Galactosyl_T_2,superfamily_Nucleotide-diphospho-sugar transferases HCLS1 3059 genome.wustl.edu 37 3 121376193 121376193 + Missense_Mutation SNP T T C novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_005335.4 -1 validated p.I31V 1.000 224 0% 237 15.2% 18 5.5% benign(0.012) tolerated(1) neutral(0.001) NULL ILDR1 286676 genome.wustl.edu 37 3 121725878 121725878 + Silent SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_175924.2 -1 provisional p.K63 1.000 147 0% 145 20% 16 6.2% - - - HMMSmart_IG,superfamily_SSF48726 ITGB5 3693 genome.wustl.edu 37 3 124485194 124485194 + Splice_Site SNP T T C novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_002213.3 -1 provisional e13-2 1.000 75 0% 58 43.1% 4 100% - - - - PLXNA1 5361 genome.wustl.edu 37 3 126733088 126733088 + Missense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_032242.3 +1 validated p.R802H 0.914 12 0% 14 57.1% 7 57.1% benign(0.071) deleterious(0.01) neutral(0.411) HMMPfam_PSI,HMMSmart_SM00423 C3orf37 56941 genome.wustl.edu 37 3 129020968 129020968 + Missense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_001006109.1 +1 validated p.D271N 0.000 204 0% 187 27.3% 56 30.3% benign(0.007) tolerated(0.16) neutral(0.059) NULL AADAC 13 genome.wustl.edu 37 3 151531993 151531993 + Missense_Mutation SNP A A G novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_001086.2 +1 reviewed p.I15V 0.000 213 0% 214 27.1% 0 - benign(0) tolerated(0.66) neutral(0.003) NULL MCCC1 56922 genome.wustl.edu 37 3 182755066 182755066 + Missense_Mutation SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_020166.3 -1 reviewed p.A512T 1.000 169 0% 147 10.2% 43 16.2% benign(0.333) deleterious(0.04) neutral(0.453) NULL NCBP2 22916 genome.wustl.edu 37 3 196669272 196669272 + Missense_Mutation SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 ENST00000428425 -1 known p.G35R 0.037 31 0% 21 38.1% 3 66.6% unknown(0) - - NULL ZNF721 170960 genome.wustl.edu 37 4 435781 435781 + Silent SNP A A G novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_133474.2 -1 validated p.T825 0.001 242 0% 225 25.8% 12 33.3% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers GABRG1 2565 genome.wustl.edu 37 4 46125861 46125861 + Missense_Mutation SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_173536.3 -1 reviewed p.V24I 0.988 319 0% 231 26.8% 0 - benign(0) tolerated(1) - NULL FRYL 285527 genome.wustl.edu 37 4 48552710 48552710 + Missense_Mutation SNP A A G novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_015030.1 -1 validated p.L1511P 1.000 261 0% 276 34.1% 7 57.1% probably_damaging(0.981) tolerated(0.21) deleterious(0.469) NULL PDGFRA 5156 genome.wustl.edu 37 4 55146527 55146527 + Missense_Mutation SNP T T C novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_006206.4 +1 reviewed p.M734T 1.000 344 0.3% 305 12.5% 8 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) ANKRD17 26057 genome.wustl.edu 37 4 74005393 74005393 + Silent SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_032217.3 -1 reviewed p.L980 1.000 132 0% 151 22.5% 16 18.7% - - - superfamily_Ankyrin repeat RASSF6 166824 genome.wustl.edu 37 4 74459182 74459182 + Silent SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_201431.1 -1 validated p.V123 0.002 251 0% 209 38.8% 6 66.6% - - - NULL DDIT4L 115265 genome.wustl.edu 37 4 101111077 101111077 + Missense_Mutation SNP C C A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_145244.2 -1 provisional p.G22C 0.941 93 0% 103 48.5% 5 80% benign(0.087) deleterious(0.01) neutral(0.412) NULL ELOVL6 79071 genome.wustl.edu 37 4 110972773 110972773 + Silent SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_001130721.1 -1 validated p.V173 0.996 50 0% 51 23.5% 7 0% - - - HMMPfam_ELO PRSS12 8492 genome.wustl.edu 37 4 119203147 119203147 + Missense_Mutation SNP C C G novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_003619.2 -1 reviewed p.V858L 1.000 220 0% 196 36.2% 8 62.5% possibly_damaging(0.754) tolerated(0.07) deleterious(0.597) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases KIAA1109 84162 genome.wustl.edu 37 4 123226096 123226096 + Missense_Mutation SNP G G T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_015312.3 +1 reviewed p.Q3210H 0.992 155 0% 134 23.1% 3 33.3% probably_damaging(0.983) tolerated(0.13) deleterious(0.681) NULL GYPE 2996 genome.wustl.edu 37 4 144826638 144826638 + Missense_Mutation SNP A A G novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_002102.3 -1 reviewed p.V8A 0.077 522 0.2% 527 43.3% 0 - benign(0.016) deleterious(0) neutral(0.445) NULL SORBS2 8470 genome.wustl.edu 37 4 186544809 186544809 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_021069.4 -1 reviewed p.Q588* 0.748 33 0% 41 34.1% 0 - - - - NULL SORBS2 8470 genome.wustl.edu 37 4 186544810 186544810 + Silent SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_021069.4 -1 reviewed p.E587 0.772 34 0% 42 33.3% 0 - - - - NULL SEMA5A 9037 genome.wustl.edu 37 5 9227038 9227038 + Silent SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 ENST00000514923 -1 known p.R73* 0.005 83 0% 67 20.9% 0 - - - - HMMPfam_Sema,HMMSmart_SM00630,superfamily_Sema domain DNAH5 1767 genome.wustl.edu 37 5 13883156 13883156 + Missense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_001369.2 -1 reviewed p.R1011W 1.000 216 0.5% 205 12.2% 2 0% possibly_damaging(0.95) deleterious(0.04) deleterious(0.742) NULL TRIO 7204 genome.wustl.edu 37 5 14504623 14504623 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_007118.2 +1 validated p.Q2845* 1.000 102 0% 106 41.5% 24 16.6% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase NUP155 9631 genome.wustl.edu 37 5 37307495 37307495 + Missense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_153485.1 -1 reviewed p.A936V 1.000 213 0% 201 22.4% 6 33.3% benign(0.08) tolerated(0.27) neutral(0.039) HMMPfam_Nucleoporin C7 730 genome.wustl.edu 37 5 40962264 40962264 + Missense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_000587.2 +1 reviewed p.G580E 1.000 410 0% 313 34.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sushi,HMMSmart_CCP,superfamily_Complement_control_module HCN1 348980 genome.wustl.edu 37 5 45262759 45262759 + Missense_Mutation SNP G G T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_021072.2 -1 validated p.T646N 1.000 340 0% 361 40.4% 0 - benign(0.003) tolerated(0.5) neutral(0.010) NULL ISL1 3670 genome.wustl.edu 37 5 50685748 50685748 + Missense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 ENST00000503187 +1 known p.A250T 1.000 60 0% 83 41% 0 - probably_damaging(0.965) deleterious(0) deleterious(0.851) NULL CWC27 10283 genome.wustl.edu 37 5 64079742 64079742 + Missense_Mutation SNP G G T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_005869.2 +1 validated p.S111I 1.000 250 0% 225 38.2% 28 60.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pro_isomerase,superfamily_Cyclophilin-like MAST4 375449 genome.wustl.edu 37 5 66460868 66460868 + Missense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_015183.2 +1 validated p.R1765H 0.000 41 0% 48 31.2% 7 57.1% benign(0.003) deleterious(0) neutral(0.445) NULL PIK3R1 5295 genome.wustl.edu 37 5 67591246 67591273 + Frame_Shift_Del DEL TCAAAACTGTTTTTCAGGTGGTTGACTC TCAAAACTGTTTTTCAGGTGGTTGACTC - novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 TCAAAACTGTTTTTCAGGTGGTTGACTC TCAAAACTGTTTTTCAGGTGGTTGACTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_181523.1 +1 reviewed p.M583fs 1.000:1.000:1.000:1.000:1.000:1.000:0.986:1.000:1.000:1.000:1.000:0.749:1.000 - - - - - - - - - NULL CCDC112 153733 genome.wustl.edu 37 5 114607097 114607099 + In_Frame_Del DEL TCT TCT - novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 TCT TCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_001040440.2 -1 validated p.E382in_frame_del 1.000:1.000:0.999 - - - - - - - - - NULL C5orf48 389320 genome.wustl.edu 37 5 125968274 125968274 + Silent SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_207408.1 +1 predicted p.K41 0.995 295 0% 294 35.7% 0 - - - - NULL FSTL4 23105 genome.wustl.edu 37 5 132553018 132553018 + Missense_Mutation SNP A A G novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_015082.1 -1 validated p.V504A 0.955 242 0% 189 39.2% 0 - benign(0) tolerated(0.71) neutral(0.002) superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase HARS 3035 genome.wustl.edu 37 5 140070442 140070442 + Missense_Mutation SNP T T C novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_002109.3 -1 reviewed p.K60E 1.000 126 0% 116 14.7% 59 8.4% benign(0.013) tolerated(0.17) neutral(0.059) HMMPfam_WHEP-TRS,superfamily_SSF55681 PCDHA3 56145 genome.wustl.edu 37 5 140182972 140182972 + Silent SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_018906.2 +1 reviewed p.G730 0.005 97 0% 95 46.3% 1 0% - - - NULL PCDHA10 56139 genome.wustl.edu 37 5 140237891 140237891 + Missense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_018901.2 +1 reviewed p.R753Q 0.503 204 0% 170 40% 0 - benign(0.017) tolerated(0.59) neutral(0.005) NULL PCDHB5 26167 genome.wustl.edu 37 5 140517184 140517184 + Missense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_015669.2 +1 reviewed p.R723H 0.000 62 0% 50 54% 0 - possibly_damaging(0.768) tolerated(0.59) neutral(0.289) NULL SLC26A2 1836 genome.wustl.edu 37 5 149357387 149357387 + Missense_Mutation SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_000112.3 +1 reviewed p.R58C 0.219 152 0% 118 10.2% 16 6.2% possibly_damaging(0.902) deleterious(0.01) deleterious(0.762) NULL ADAM19 8728 genome.wustl.edu 37 5 156926671 156926671 + Splice_Site SNP C C A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_033274.2 -1 reviewed e13-1 1.000 120 0% 101 45.5% 0 - - - - - C5orf25 375484 genome.wustl.edu 37 5 175722149 175722149 + Silent SNP C C A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_198567.4 +1 validated p.P82 1.000 251 0% 197 17.8% 6 16.6% - - - NULL SLC34A1 6569 genome.wustl.edu 37 5 176813527 176813527 + Silent SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_003052.4 +1 reviewed p.S164 1.000 66 0% 67 43.3% 0 - - - - HMMPfam_Na_Pi_cotrans DSP 1832 genome.wustl.edu 37 6 7585204 7585204 + Missense_Mutation SNP G G C novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_004415.2 +1 reviewed p.S2570T 0.007 160 0% 162 39.5% 238 53.3% benign(0.002) tolerated(0.51) neutral(0.009) superfamily_Plakin repeat GCM2 9247 genome.wustl.edu 37 6 10877540 10877540 + Missense_Mutation SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_004752.3 -1 reviewed p.R59H 1.000 120 0% 135 23.7% 0 - probably_damaging(0.971) deleterious(0) deleterious(0.857) HMMPfam_GCM,superfamily_GCM_motif HIVEP1 3096 genome.wustl.edu 37 6 12121881 12121881 + Missense_Mutation SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_002114.2 +1 validated p.T618I 0.000 73 0% 70 14.3% 2 0% benign(0.071) tolerated(0.08) neutral(0.305) NULL KDM1B 221656 genome.wustl.edu 37 6 18215250 18215250 + Missense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_153042.3 +1 validated p.V476M 1.000 91 0% 91 29.7% 16 56.2% probably_damaging(0.986) deleterious(0.01) deleterious(0.840) HMMPfam_Amino_oxidase,superfamily_SSF51905,superfamily_SSF54373 MBOAT1 154141 genome.wustl.edu 37 6 20152937 20152937 + Missense_Mutation SNP G G T rs150206972 by1000genomes TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_001080480.1 -1 provisional p.R55S 0.754 196 0% 257 21.8% 33 12.1% benign(0) tolerated(0.84) neutral(0.001) NULL SLC17A3 10786 genome.wustl.edu 37 6 25851095 25851095 + Silent SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_001098486.1 -1 validated p.G241 0.997 289 0% 310 27.4% 0 - - - - HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter FANCE 2178 genome.wustl.edu 37 6 35427153 35427153 + Missense_Mutation SNP C C A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_021922.2 +1 reviewed p.L387M 0.477 304 0% 369 27.4% 20 40% probably_damaging(1) tolerated(0.17) deleterious(0.559) NULL MAPK14 1432 genome.wustl.edu 37 6 36070382 36070382 + Missense_Mutation SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_001315.2 +1 reviewed p.P266L 1.000 438 0% 453 41.3% 33 39.3% probably_damaging(0.996) deleterious(0.02) deleterious(0.845) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase PI16 221476 genome.wustl.edu 37 6 36930927 36930927 + Missense_Mutation SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_153370.2 +1 validated p.T270M 0.836 61 0% 67 37.3% 0 - probably_damaging(1) tolerated(0.07) deleterious(0.819) NULL FGD2 221472 genome.wustl.edu 37 6 36993651 36993651 + Silent SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_173558.3 +1 validated p.Y514 0.995 59 0% 50 36% 2 0% - - - HMMPfam_FYVE,HMMSmart_SM00064,superfamily_FYVE/PHD zinc finger KIF6 221458 genome.wustl.edu 37 6 39552732 39552732 + Missense_Mutation SNP T T C novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_145027.4 -1 validated p.Q340R 1.000 214 0% 182 13.2% 0 - possibly_damaging(0.952) tolerated(0.12) deleterious(0.656) HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases ENPP5 59084 genome.wustl.edu 37 6 46129247 46129247 + Missense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_021572.4 -1 validated p.P417L 0.004 283 0% 286 15.7% 27 33.3% benign(0) tolerated(1) - NULL FAM83B 222584 genome.wustl.edu 37 6 54735112 54735112 + Missense_Mutation SNP A A G novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_001010872.1 +1 validated p.H23R 1.000 106 0% 127 17.3% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_DUF1669 FAM83B 222584 genome.wustl.edu 37 6 54805108 54805108 + Missense_Mutation SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_001010872.1 +1 validated p.R447W 0.691 138 0% 129 48.1% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL SYNCRIP 10492 genome.wustl.edu 37 6 86324967 86324967 + Missense_Mutation SNP T T C novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_006372.4 -1 validated p.Y460C 1.000 50 0% 40 35% 91 54.9% unknown(0) tolerated(0.11) - superfamily_RNA-binding domain RBD ZNF292 23036 genome.wustl.edu 37 6 87971031 87971031 + Missense_Mutation SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_015021.1 +1 validated p.R2562C 0.271 45 0% 62 12.9% 12 25% possibly_damaging(0.552) deleterious(0) deleterious(0.633) NULL DSE 29940 genome.wustl.edu 37 6 116720818 116720818 + Silent SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_001080976.1 +1 reviewed p.A135 0.998 60 0% 92 16.3% 5 0% - - - NULL HEY2 23493 genome.wustl.edu 37 6 126080812 126080812 + Missense_Mutation SNP C C A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_012259.2 +1 reviewed p.A293E 0.954 51 0% 46 26.1% 16 6.2% possibly_damaging(0.507) tolerated(0.19) neutral(0.219) NULL LAMA2 3908 genome.wustl.edu 37 6 129687452 129687452 + Silent SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_000426.3 +1 reviewed p.L1602 1.000 143 0% 126 24.6% 0 - - - - superfamily_ConA_like_lec_gl,HMMPfam_Laminin_I TNFAIP3 7128 genome.wustl.edu 37 6 138199674 138199675 + Frame_Shift_Del DEL GA GA - novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 GA GA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_006290.2 +1 reviewed p.E366fs 0.999:1.000 - - - - - - - - - NULL UTRN 7402 genome.wustl.edu 37 6 144761584 144761584 + Missense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_007124.2 +1 reviewed p.A497T 1.000 311 0% 314 39.5% 9 66.6% probably_damaging(0.973) deleterious(0) deleterious(0.859) HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_Spectrin IYD 389434 genome.wustl.edu 37 6 150716712 150716712 + Missense_Mutation SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 ENST00000392255 +1 known p.A270V 0.000 61 0% 75 10.7% 0 - possibly_damaging(0.949) deleterious(0.01) deleterious(0.798) NULL FNDC1 84624 genome.wustl.edu 37 6 159646688 159646688 + Missense_Mutation SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_032532.2 +1 validated p.R336C 0.998 258 0.4% 246 19.9% 7 0% unknown(0) deleterious(0) - HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like ICA1 3382 genome.wustl.edu 37 7 8196567 8196585 + Frame_Shift_Del DEL AAAAAAAAAAAAAAAAAAG AAAAAAAAAAAAAAAAAAG - rs77253977 TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 AAAAAAAAAAAAAAAAAAG AAAAAAAAAAAAAAAAAAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 ENST00000407906 -1 known p.S322fs 0.008:0.013:0.018:0.022:0.026:0.029:0.033:0.021:0.016:0.011:0.005:0.002:0.000:0.000:0.000:0.001:0.001:0.001:0.001 - - - - - - - - - NULL LOC340268 340268 genome.wustl.edu 37 7 9766538 9766538 + RNA SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 XR_041608.1 +1 model NULL 0.987 146 0% 152 20.4% 1 0% - - - - MACC1 346389 genome.wustl.edu 37 7 20201409 20201409 + Missense_Mutation SNP A A G novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_182762.3 -1 validated p.M26T 1.000 497 0% 379 36.1% 3 0% benign(0.032) tolerated(0.82) neutral(0.002) NULL BMPER 168667 genome.wustl.edu 37 7 34182938 34182938 + Silent SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_133468.3 +1 validated p.I614 0.014 275 0% 212 10.8% 0 - - - - HMMPfam_C8 ZPBP 11055 genome.wustl.edu 37 7 50057862 50057862 + Missense_Mutation SNP A A G novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_007009.2 -1 validated p.C253R 0.922 412 0% 346 14.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sp38 MAGI2 9863 genome.wustl.edu 37 7 79082496 79082496 + Silent SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_012301.3 -1 reviewed p.V47 1.000 56 0% 39 28.2% 0 - - - - HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like ASNS 440 genome.wustl.edu 37 7 97481702 97481702 + Missense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_001673.4 -1 reviewed p.R519C 1.000 279 0% 302 14.2% 80 3.7% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF52402 TRRAP 8295 genome.wustl.edu 37 7 98562316 98562316 + Silent SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 ENST00000456197 +1 known p.P2013L 0.001 105 0% 149 44.3% 14 42.8% - - - superfamily_ARM repeat AP4M1 9179 genome.wustl.edu 37 7 99702967 99702967 + Missense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_004722.3 +1 reviewed p.E278K 1.000 118 0% 131 45% 40 40% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Adap_comp_sub,superfamily_AP50,PatternScan_CLAT_ADAPTOR_M_2 CUX1 1523 genome.wustl.edu 37 7 101882611 101882611 + Missense_Mutation SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_181552.2 +1 reviewed p.R1212W 1.000 19 0% 26 26.9% 3 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL HBP1 26959 genome.wustl.edu 37 7 106829779 106829779 + Missense_Mutation SNP A A T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_012257.3 +1 validated p.S270C 1.000 501 0% 375 41.1% 43 51.1% benign(0.001) tolerated(0.1) neutral(0.286) HMMSmart_SM00536,HMMPfam_AXH,superfamily_AXH domain TMEM229A 730130 genome.wustl.edu 37 7 123672394 123672394 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_001136002.1 -1 validated p.R222* 0.418 21 4.8% 14 28.6% 0 - - - - NULL C7orf49 78996 genome.wustl.edu 37 7 134853705 134853705 + RNA SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NR_024185.1 -1 validated NULL 0.000 104 0% 83 13.3% 48 6.2% - - - - OR9A4 130075 genome.wustl.edu 37 7 141619441 141619441 + Silent SNP T T C novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_001001656.1 +1 provisional p.L256 0.930 167 0% 202 13.9% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like MGAM 8972 genome.wustl.edu 37 7 141764222 141764222 + Missense_Mutation SNP C C G novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_004668.2 +1 reviewed p.L1462V 1.000 85 0% 101 18.8% 0 - benign(0.085) tolerated(0.28) neutral(0.037) HMMPfam_Glyco_hydro_31 MGAM 8972 genome.wustl.edu 37 7 141778752 141778752 + Missense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 ENST00000475668 +1 known p.V1932M 0.084 150 0% 142 23.9% 0 - unknown(0) deleterious(0.01) - NULL SSPO 23145 genome.wustl.edu 37 7 149483249 149483249 + Missense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 ENST00000378016 +1 known p.R1106H 0.000 45 0% 26 15.4% 0 - - - - HMMPfam_VWD,HMMSmart_SM00216 ERICH1 157697 genome.wustl.edu 37 8 623596 623596 + Silent SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_207332.1 -1 provisional p.D252 0.002 211 0% 182 36.3% 9 22.2% - - - NULL MYOM2 9172 genome.wustl.edu 37 8 2063842 2063842 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_003970.2 +1 validated p.Q1091* 1.000 391 0% 461 14.3% 0 - - - - NULL DLC1 10395 genome.wustl.edu 37 8 12957801 12957801 + Missense_Mutation SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_182643.2 -1 reviewed p.S682N 0.995 108 0.9% 97 12.4% 8 12.5% benign(0.311) tolerated(0.3) neutral(0.126) NULL SLC18A1 6570 genome.wustl.edu 37 8 20005546 20005546 + Silent SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_001135691.2 -1 validated p.G394 0.959 176 0% 176 44.3% 0 - - - - HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter LOXL2 4017 genome.wustl.edu 37 8 23156383 23156383 + Silent SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_002318.2 -1 reviewed p.D737 0.984 116 0% 129 28.7% 23 4.3% - - - HMMPfam_Lysyl_oxidase CDCA2 157313 genome.wustl.edu 37 8 25319665 25319665 + Missense_Mutation SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_152562.2 +1 validated p.R110W 1.000 315 0% 296 23.6% 4 75% possibly_damaging(0.888) deleterious(0) deleterious(0.792) NULL NRG1 3084 genome.wustl.edu 37 8 32616830 32616830 + Missense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_013956.3 +1 reviewed p.V318I 0.996 338 0.3% 328 39.6% 0 - probably_damaging(0.964) tolerated(0.95) neutral(0.406) HMMPfam_Neuregulin KCNU1 157855 genome.wustl.edu 37 8 36788640 36788640 + Missense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_001031836.2 +1 validated p.E970K 0.000 189 0% 169 22.5% 0 - benign(0.026) deleterious(0.01) neutral(0.407) NULL HTRA4 203100 genome.wustl.edu 37 8 38840074 38840074 + Missense_Mutation SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_153692.3 +1 reviewed p.P391L 0.996 386 0% 429 21.2% 0 - benign(0.055) tolerated(0.07) neutral(0.323) HMMSmart_PDZ,superfamily_PDZ HGSNAT 138050 genome.wustl.edu 37 8 43054619 43054619 + Silent SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_152419.2 +1 reviewed p.H605 0.779 93 0% 98 21.4% 46 17.3% - - - NULL LYN 4067 genome.wustl.edu 37 8 56910958 56910958 + Silent SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_002350.2 +1 validated p.L368 0.672 235 0% 247 15.8% 48 12.5% - - - HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_TYR,superfamily_Protein kinase-like (PK-like) NKAIN3 286183 genome.wustl.edu 37 8 63831073 63831073 + Splice_Site SNP G G T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_173688.2 +1 provisional e5+1 1.000 668 0.3% 591 39.4% 0 - - - - - TRAM1 23471 genome.wustl.edu 37 8 71508498 71508498 + Missense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_014294.5 -1 reviewed p.T162I 1.000 228 0% 241 41.1% 144 45.8% benign(0.103) tolerated(0.29) neutral(0.037) HMMPfam_TRAM_LAG1_CLN8,HMMSmart_SM00724 SLC7A13 157724 genome.wustl.edu 37 8 87242122 87242122 + Missense_Mutation SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_138817.2 -1 validated p.V129I 0.007 149 0% 172 41.3% 0 - benign(0.158) tolerated(0.47) neutral(0.025) NULL KIAA1429 25962 genome.wustl.edu 37 8 95523784 95523784 + Missense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_015496.3 -1 validated p.R1007C 1.000 139 0% 93 23.7% 26 15.3% probably_damaging(0.995) tolerated(0.06) deleterious(0.780) NULL MATN2 4147 genome.wustl.edu 37 8 99045864 99045867 + Frame_Shift_Del DEL AAGT AAGT - novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 AAGT AAGT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_002380.3 +1 reviewed p.V932fs 1.000:1.000:1.000:0.998 - - - - - - - - - HMMPfam_Matrilin_ccoil KCNS2 3788 genome.wustl.edu 37 8 99440406 99440406 + Missense_Mutation SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_020697.2 +1 provisional p.R67W 0.998 44 0% 55 40% 0 - possibly_damaging(0.893) deleterious(0.01) deleterious(0.758) HMMSmart_SM00225,HMMPfam_K_tetra,superfamily_POZ domain VPS13B 157680 genome.wustl.edu 37 8 100866138 100866138 + Silent SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_017890.3 +1 reviewed p.Y3532 0.986 185 0% 159 12.6% 9 11.1% - - - NULL RIMS2 9699 genome.wustl.edu 37 8 105001598 105001598 + Missense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_001100117.1 +1 validated p.R998Q 1.000 213 0% 236 14% 0 - possibly_damaging(0.91) tolerated(0.48) neutral(0.373) NULL TG 7038 genome.wustl.edu 37 8 133923648 133923648 + Silent SNP C C A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_003235.4 +1 reviewed p.S1343 0.089 461 0% 432 39.6% 0 - - - - NULL FLJ43860 389690 genome.wustl.edu 37 8 142487905 142487905 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_207414.2 -1 validated p.Q446* 0.915 31 0% 41 14.6% 0 - - - - NULL ARC 23237 genome.wustl.edu 37 8 143694564 143694564 + Missense_Mutation SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_015193.3 -1 validated p.D357N 0.850 13 0% 18 33.3% 0 - benign(0) tolerated(0.26) neutral(0.034) NULL ZNF250 58500 genome.wustl.edu 37 8 146107283 146107283 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_021061.3 -1 validated p.Q434* 0.048 240 0.4% 220 50.9% 9 66.6% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers KIAA2026 158358 genome.wustl.edu 37 9 5921489 5921489 + Missense_Mutation SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_001017969.2 -1 validated p.A1503T 0.584 229 0% 208 15.9% 12 0% benign(0) tolerated(0.45) neutral(0.012) NULL PTPRD 5789 genome.wustl.edu 37 9 8528710 8528710 + Missense_Mutation SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_002839.3 -1 reviewed p.R141H 1.000 106 0.9% 92 18.5% 0 - probably_damaging(1) tolerated(0.14) deleterious(0.750) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin SMC5 23137 genome.wustl.edu 37 9 72959093 72959093 + Missense_Mutation SNP A A G novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_015110.3 +1 validated p.R811G 0.637 121 0% 123 23.6% 10 0% benign(0.114) tolerated(0.31) neutral(0.036) HMMPfam_SMC_N,superfamily_SSF52540 PRUNE2 158471 genome.wustl.edu 37 9 79319892 79319892 + Missense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_015225.2 -1 validated p.A2433V 0.689 128 0% 110 14.5% 1 100% possibly_damaging(0.896) deleterious(0) deleterious(0.798) NULL PTCH1 5727 genome.wustl.edu 37 9 98278959 98278961 + In_Frame_Del DEL TTC TTC - novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 TTC TTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_001083603.1 -1 reviewed p.E48in_frame_del 0.083:0.097:0.339 - - - - - - - - - NULL SLC44A1 23446 genome.wustl.edu 37 9 108072123 108072123 + Missense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_080546.3 +1 validated p.S82N 1.000 250 0% 230 15.2% 65 16.9% probably_damaging(0.968) deleterious(0) deleterious(0.855) NULL BARHL1 56751 genome.wustl.edu 37 9 135458458 135458458 + Missense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_020064.3 +1 validated p.V92I 1.000 18 0% 25 44% 0 - benign(0.157) tolerated(0.15) neutral(0.255) NULL OBP2B 29989 genome.wustl.edu 37 9 136081320 136081320 + Silent SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_014581.2 -1 validated p.C166 0.014 323 0% 296 16.6% 1 0% - - - superfamily_Lipocalins TUBB4B 10383 genome.wustl.edu 37 9 140137866 140137866 + Missense_Mutation SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_006088.5 +1 validated p.T399M 1.000 123 0% 142 17.6% 797 19.4% probably_damaging(0.999) - - superfamily_Tubulin C-terminal domain-like PRKCQ 5588 genome.wustl.edu 37 10 6557095 6557095 + Missense_Mutation SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_006257.2 -1 reviewed p.M1I 1.000 62 0% 73 37% 2 50% probably_damaging(0.986) deleterious(0) deleterious(0.879) superfamily_C2 domain (Calcium/lipid-binding domain CaLB) ARMC4 55130 genome.wustl.edu 37 10 28228843 28228843 + Missense_Mutation SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_018076.2 -1 validated p.A694T 1.000 126 0.8% 142 16.9% 5 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00185,superfamily_ARM repeat ZNF22 7570 genome.wustl.edu 37 10 45499408 45499408 + Missense_Mutation SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_006963.4 +1 validated p.R198W 0.976 116 0% 115 47.8% 26 46.1% probably_damaging(0.984) deleterious(0) deleterious(0.875) NULL GDF10 2662 genome.wustl.edu 37 10 48428877 48428877 + Missense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_004962.2 -1 reviewed p.R337C 0.194 59 0% 68 11.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL PCDH15 65217 genome.wustl.edu 37 10 55591213 55591213 + Missense_Mutation SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_001142763.1 -1 reviewed p.R1360Q 1.000 397 0% 307 36.8% 0 - probably_damaging(1) tolerated(0.06) deleterious(0.823) NULL PTEN 5728 genome.wustl.edu 37 10 89624297 89624297 + Missense_Mutation SNP A A G novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 ENST00000371953 +1 known p.D24G 1.000 307 0.3% 278 40.6% 72 62.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II PTEN 5728 genome.wustl.edu 37 10 89685300 89685300 + Nonsense_Mutation SNP C C G novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 ENST00000371953 +1 known p.Y65* 1.000 236 0% 172 40.1% 54 27.7% - - - HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II BLNK 29760 genome.wustl.edu 37 10 97987276 97987276 + Missense_Mutation SNP T T C novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_013314.3 -1 reviewed p.Y84C 1.000 100 0% 75 37.3% 14 57.1% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL RRP12 23223 genome.wustl.edu 37 10 99129215 99129215 + Silent SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_015179.3 -1 validated p.D974 0.001 37 0% 39 10.3% 44 2.2% - - - superfamily_ARM repeat RRP12 23223 genome.wustl.edu 37 10 99129323 99129323 + Silent SNP A A G novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_015179.3 -1 validated p.S938 0.000 48 0% 50 20% 34 11.7% - - - superfamily_ARM repeat UBTD1 80019 genome.wustl.edu 37 10 99327804 99327804 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_024954.3 +1 provisional p.W68* 1.000 21 0% 17 29.4% 42 38% - - - NULL ENTPD7 57089 genome.wustl.edu 37 10 101455841 101455841 + Silent SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_020354.3 +1 validated p.Y324 1.000 198 0% 192 49% 8 100% - - - HMMPfam_GDA1_CD39 OBFC1 79991 genome.wustl.edu 37 10 105651996 105651998 + In_Frame_Del DEL CTT CTT - novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_024928.4 -1 validated p.K256in_frame_del 0.000:0.021:0.026 - - - - - - - - - HMMPfam_DUF1879 SORCS1 114815 genome.wustl.edu 37 10 108923851 108923851 + Missense_Mutation SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_001013031.1 -1 reviewed p.R145Q 0.999 41 0% 58 34.5% 0 - benign(0.098) tolerated(0.24) neutral(0.045) NULL RBM20 282996 genome.wustl.edu 37 10 112540840 112540840 + Missense_Mutation SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_001134363.1 +1 reviewed p.A158V 0.000 85 0% 55 38.2% 0 - benign(0.004) deleterious(0.01) neutral(0.406) NULL EIF3A 8661 genome.wustl.edu 37 10 120830573 120830573 + Missense_Mutation SNP G G A rs182093925 by1000genomes TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_003750.2 -1 validated p.T189M 1.000 230 0% 227 42.7% 93 40.8% unknown(0) deleterious(0.01) - NULL GRK5 2869 genome.wustl.edu 37 10 121184524 121184524 + Missense_Mutation SNP A A G novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_005308.2 +1 reviewed p.R154G 0.998 271 0% 220 41.4% 4 0% benign(0.13) tolerated(0.29) neutral(0.040) HMMPfam_RGS,HMMSmart_RGS,superfamily_Regulat_G_prot_signal_superfam CPXM2 119587 genome.wustl.edu 37 10 125506309 125506309 + Missense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_198148.2 -1 validated p.R748W 0.511 61 0% 67 19.4% 2 0% unknown(0) deleterious(0) - NULL SIGIRR 59307 genome.wustl.edu 37 11 408708 408708 + Missense_Mutation SNP G G T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_001135053.1 -1 validated p.H65N 0.997 65 0% 57 42.1% 48 58.3% benign(0.013) tolerated(0.15) neutral(0.241) superfamily_Immunoglobulin DEAF1 10522 genome.wustl.edu 37 11 644594 644594 + Missense_Mutation SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_021008.2 -1 validated p.E552K 0.971 53 0% 42 52.4% 55 45.4% benign(0.054) tolerated(0.06) neutral(0.326) NULL MUC5B 727897 genome.wustl.edu 37 11 1256573 1256573 + Missense_Mutation SNP T T C novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_002458.1 +1 validated p.I940T 0.082 92 0% 61 23% 11 9% benign(0.018) - - HMMPfam_VWD,HMMSmart_SM00216 MUC5B 727897 genome.wustl.edu 37 11 1272486 1272486 + Silent SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_002458.1 +1 validated p.V4795 0.000 334 0% 355 25.6% 134 4.4% - - - NULL LRRC4C 57689 genome.wustl.edu 37 11 40136523 40136523 + Silent SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_020929.1 -1 validated p.T440 0.991 171 0% 147 43.5% 1 0% - - - HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin OR5D18 219438 genome.wustl.edu 37 11 55587915 55587915 + Silent SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_001001952.1 +1 provisional p.H270 0.271 271 0% 261 27.2% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 ENSG00000230416 0 genome.wustl.edu 37 11 56216194 56216194 + Silent SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 ENST00000415874 +1 known p.S17 0.000 68 0% 58 60.3% 0 - - - - superfamily_Family A G protein-coupled receptor-like FAM111B 374393 genome.wustl.edu 37 11 58893237 58893237 + Missense_Mutation SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_198947.3 +1 validated p.A556V 0.000 195 1% 175 40% 9 55.5% benign(0.152) tolerated(0.26) neutral(0.048) superfamily_Trypsin-like serine proteases SLC22A8 9376 genome.wustl.edu 37 11 62760801 62760801 + Missense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_004254.3 -1 reviewed p.R513W 0.003 139 0% 120 24.2% 0 - probably_damaging(0.982) deleterious(0.01) deleterious(0.832) NULL CCDC88B 283234 genome.wustl.edu 37 11 64111489 64111489 + Silent SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_032251.5 +1 reviewed p.P492 0.005 33 0% 46 15.2% 0 - - - - NULL CAPN1 823 genome.wustl.edu 37 11 64977563 64977563 + Silent SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_005186.2 +1 reviewed p.S646 0.993 36 0% 33 21.2% 283 13.4% - - - HMMSmart_EFh,superfamily_SSF47473 SHANK2 22941 genome.wustl.edu 37 11 70821058 70821058 + Missense_Mutation SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 ENST00000338508 -1 known p.R174H 0.613 134 0% 144 43.1% 5 20% benign(0.007) tolerated(0.35) neutral(0.021) superfamily_ANK INPPL1 3636 genome.wustl.edu 37 11 71943379 71943379 + Missense_Mutation SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_001567.3 +1 reviewed p.R571W 1.000 112 0% 96 16.7% 35 57.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_IPPc,HMMPfam_Exo_endo_phos,superfamily_Exo_endo_phos RPS3 6188 genome.wustl.edu 37 11 75115230 75115230 + Missense_Mutation SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_001005.3 +1 reviewed p.R173C 1.000 116 0% 154 45.5% 4919 40.6% benign(0.014) deleterious(0.03) neutral(0.365) HMMPfam_Ribosomal_S3_C,superfamily_Ribosomal protein S3 C-terminal domain,PatternScan_RIBOSOMAL_S3 RAB38 23682 genome.wustl.edu 37 11 87847215 87847215 + Missense_Mutation SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_022337.1 -1 provisional p.V193M 0.991 142 0% 124 32.3% 4 0% benign(0.116) deleterious(0.01) neutral(0.415) superfamily_SSF52540 NAALAD2 10003 genome.wustl.edu 37 11 89916152 89916152 + Missense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_005467.3 +1 reviewed p.G670D 1.000 175 0% 183 37.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TFR_dimer,superfamily_Transferrin receptor ectodomain C-terminal domain GPR83 10888 genome.wustl.edu 37 11 94113719 94113721 + In_Frame_Del DEL TCT TCT - novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 TCT TCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_016540.3 -1 validated p.K289in_frame_del 1.000:0.989:0.990 - - - - - - - - - HMMPfam_7tm_1,superfamily_SSF81321 BIRC2 329 genome.wustl.edu 37 11 102221167 102221167 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_001166.3 +1 reviewed p.W194* 1.000 167 0% 130 46.2% 20 30% - - - HMMPfam_BIR,HMMSmart_BIR,PatternScan_BIR_REPEAT_1,superfamily_SSF57924 MMP3 4314 genome.wustl.edu 37 11 102706913 102706913 + Missense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_002422.3 -1 reviewed p.P460S 0.981 455 0% 422 15.9% 3 0% benign(0.011) tolerated(0.34) neutral(0.024) superfamily_Hemopexin-like domain,HMMPfam_Hemopexin,HMMSmart_SM00120 LOC643733 643733 genome.wustl.edu 37 11 104776203 104776203 + RNA SNP C C T rs190968870 by1000genomes TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 XR_078449.1 -1 model NULL 0.425 237 0% 201 19.4% 3 0% - - - - MLL 4297 genome.wustl.edu 37 11 118375755 118375755 + Missense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_005933.2 +1 validated p.V3047M 0.998 142 0% 140 20% 11 27.2% probably_damaging(0.992) - - NULL C2CD2L 9854 genome.wustl.edu 37 11 118982002 118982002 + Silent SNP C C A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_014807.3 +1 validated p.P276 0.718 206 0% 194 13.9% 12 25% - - - superfamily_C2_CaLB PVRL1 5818 genome.wustl.edu 37 11 119549238 119549238 + Missense_Mutation SNP T T A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_002855.4 -1 reviewed p.D106V 1.000 57 0% 56 16.1% 16 6.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin BARX2 8538 genome.wustl.edu 37 11 129321211 129321211 + Missense_Mutation SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_003658.4 +1 reviewed p.R252C 0.000 76 0% 67 20.9% 1 0% benign(0.003) tolerated(0.14) neutral(0.249) NULL RAD52 5893 genome.wustl.edu 37 12 1025546 1025546 + Missense_Mutation SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_134424.2 -1 reviewed p.V277I 0.000 46 0% 30 16.7% 6 0% benign(0.062) tolerated(0.21) neutral(0.048) NULL ING4 51147 genome.wustl.edu 37 12 6762421 6762421 + Missense_Mutation SNP T T C novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_001127582.1 -1 reviewed p.Q84R 1.000 181 0% 178 11.8% 37 16.2% probably_damaging(0.994) deleterious(0) deleterious(0.897) NULL USP5 8078 genome.wustl.edu 37 12 6972495 6972495 + Silent SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_001098536.1 +1 validated p.N636 1.000 241 0% 207 19.3% 7 0% - - - HMMPfam_UCH,superfamily_Cysteine proteinases EMG1 10436 genome.wustl.edu 37 12 7084279 7084279 + Missense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 ENST00000261406 +1 known p.R146Q 1.000 526 0.2% 559 23.3% 85 35.2% - - - HMMPfam_EMG1 C1R 715 genome.wustl.edu 37 12 7241271 7241271 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 ENST00000290575 -1 known p.Q339* 0.848 336 0% 280 21.4% 85 0% - - - HMMPfam_Sushi,superfamily_Complement control module/SCR domain CMAS 55907 genome.wustl.edu 37 12 22208521 22208521 + Missense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_018686.3 +1 reviewed p.R179Q 1.000 450 0% 412 36.2% 37 51.3% probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_CTP_transf_3,superfamily_Nucleotide-diphospho-sugar transferases ETNK1 55500 genome.wustl.edu 37 12 22796699 22796699 + Silent SNP C C A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_018638.4 +1 reviewed p.L142 0.553 163 0% 106 35.8% 11 54.5% - - - superfamily_Kinase_like KRAS 3845 genome.wustl.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C A rs121913530 byCluster TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_033360.2 -1 reviewed p.G12C 1.000 303 0% 326 40.2% 16 43.7% benign(0.045) deleterious(0) neutral(0.447) HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases PTHLH 5744 genome.wustl.edu 37 12 28116381 28116381 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_198965.1 -1 reviewed p.R142* 1.000 403 0% 440 40.9% 7 0% - - - NULL OVCH1 341350 genome.wustl.edu 37 12 29648318 29648318 + Silent SNP A A G novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_183378.2 -1 validated p.N118 0.003 377 0% 341 37.8% 0 - - - - HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases PKP2 5318 genome.wustl.edu 37 12 33030913 33030913 + Silent SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_004572.3 -1 reviewed p.L301 0.000 46 0% 63 47.6% 57 47.3% - - - NULL MLL2 8085 genome.wustl.edu 37 12 49442973 49442973 + Missense_Mutation SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_003482.3 -1 validated p.R1312H 1.000 114 0% 142 44.4% 1 0% unknown(0) - - NULL OR6C74 254783 genome.wustl.edu 37 12 55641697 55641697 + Missense_Mutation SNP T T A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_001005490.1 +1 provisional p.L209Q 0.007 230 0% 232 15.5% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_7tm_1,superfamily_SSF81321 ESYT1 23344 genome.wustl.edu 37 12 56532712 56532712 + Missense_Mutation SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_015292.2 +1 validated p.T836I 0.947 254 0% 277 40.1% 74 47.2% possibly_damaging(0.637) tolerated(0.66) neutral(0.226) HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) LRP1 4035 genome.wustl.edu 37 12 57579605 57579605 + Missense_Mutation SNP C C A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_002332.2 +1 reviewed p.P2252H 0.996 80 0% 81 28.4% 13 30.7% possibly_damaging(0.903) deleterious(0.02) deleterious(0.741) superfamily_YWTD domain LRP1 4035 genome.wustl.edu 37 12 57590832 57590832 + Missense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_002332.2 +1 reviewed p.S2987N 0.998 65 0% 47 40.4% 19 52.6% benign(0.086) tolerated(0.2) neutral(0.056) HMMSmart_SM00179,HMMSmart_SM00181,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin,superfamily_YWTD domain LRP1 4035 genome.wustl.edu 37 12 57605028 57605028 + Missense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_002332.2 +1 reviewed p.R4329H 1.000 66 0% 57 50.9% 59 27.1% possibly_damaging(0.889) tolerated(0.13) deleterious(0.602) HMMSmart_SM00181,PatternScan_EGF_1,superfamily_EGF/Laminin KIF5A 3798 genome.wustl.edu 37 12 57944106 57944106 + Missense_Mutation SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_004984.2 +1 reviewed p.P18S 1.000 65 0% 50 54% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases CCT2 10576 genome.wustl.edu 37 12 69992134 69992134 + Silent SNP T T C novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_006431.2 +1 reviewed p.Y456 1.000 113 0% 101 40.6% 347 48.4% - - - HMMPfam_Cpn60_TCP1,superfamily_GroEL equatorial domain-like SYT1 6857 genome.wustl.edu 37 12 79747320 79747320 + Silent SNP C C T rs146053442 by1000genomes TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_001135805.1 +1 validated p.Y283 0.131 338 0% 338 17.5% 0 - - - - superfamily_C2 domain (Calcium/lipid-binding domain CaLB) PPP1R12A 4659 genome.wustl.edu 37 12 80203758 80203758 + Silent SNP T T C novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_001143885.1 -1 reviewed p.K424 1.000 419 0% 389 37.8% 6 33.3% - - - NULL PPP1R12A 4659 genome.wustl.edu 37 12 80215937 80215937 + Missense_Mutation SNP T T C novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_001143885.1 -1 reviewed p.I276V 0.999 511 0% 435 40.9% 9 55.5% benign(0) tolerated(0.66) neutral(0.003) superfamily_Ankyrin repeat CEP290 80184 genome.wustl.edu 37 12 88524171 88524171 + Silent SNP A A G novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_025114.3 -1 reviewed p.I181 1.000 599 0% 479 19.6% 0 - - - - NULL GNPTAB 79158 genome.wustl.edu 37 12 102183722 102183722 + Missense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_024312.4 -1 reviewed p.A106V 0.999 362 0% 341 37.8% 26 30.7% benign(0.013) tolerated(0.2) neutral(0.050) NULL STAB2 55576 genome.wustl.edu 37 12 104107468 104107468 + Missense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_017564.9 +1 reviewed p.D1487N 0.069 189 0% 182 44.5% 0 - possibly_damaging(0.517) tolerated(1) neutral(0.174) HMMSmart_EGF,superfamily_SSF57196 STAB2 55576 genome.wustl.edu 37 12 104142892 104142892 + Silent SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_017564.9 +1 reviewed p.N2132 0.905 44 0% 55 36.4% 0 - - - - HMMSmart_EGF,superfamily_SSF57196 PRDM4 11108 genome.wustl.edu 37 12 108133164 108133164 + Missense_Mutation SNP T T C novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_012406.3 -1 reviewed p.T697A 1.000 154 0% 113 41.6% 9 22.2% benign(0.301) deleterious(0.05) neutral(0.439) superfamily_SSF57667 TPCN1 53373 genome.wustl.edu 37 12 113730879 113730879 + Splice_Site SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_001143819.1 +1 validated e26+1 1.000 36 0% 26 34.6% 10 100% - - - - SETD8 387893 genome.wustl.edu 37 12 123879707 123879707 + Missense_Mutation SNP G G A rs115782694 by1000genomes TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_020382.3 +1 validated p.A135T 1.000 96 0% 95 21.1% 22 22.7% benign(0) tolerated(0.35) neutral(0.021) NULL NCOR2 9612 genome.wustl.edu 37 12 124886997 124886999 + In_Frame_Del DEL CTT CTT - novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_006312.3 -1 validated p.K531in_frame_del 1.000:1.000:1.000 - - - - - - - - - NULL TMEM132D 121256 genome.wustl.edu 37 12 129822249 129822249 + Missense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_133448.2 -1 validated p.T410M 0.913 76 0% 41 31.7% 0 - possibly_damaging(0.679) tolerated(0.09) deleterious(0.538) NULL FBRSL1 57666 genome.wustl.edu 37 12 133148874 133148874 + Missense_Mutation SNP T T A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_001142641.1 +1 validated p.F478I 1.000 102 0% 102 12.7% 31 9.6% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL LATS2 26524 genome.wustl.edu 37 13 21562430 21562430 + Missense_Mutation SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_014572.2 -1 reviewed p.A497T 0.000 16 0% 13 38.5% 2 50% benign(0.029) deleterious(0.01) neutral(0.407) NULL SHISA2 387914 genome.wustl.edu 37 13 26621089 26621089 + Silent SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_001007538.1 -1 provisional p.Q150 0.999 38 0% 55 40% 4 25% - - - NULL POMP 51371 genome.wustl.edu 37 13 29252193 29252193 + Missense_Mutation SNP T T C novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_015932.4 +1 validated p.M127T 1.000 434 0% 402 39.8% 390 43% possibly_damaging(0.842) deleterious(0.01) deleterious(0.728) HMMPfam_UMP1 FRY 10129 genome.wustl.edu 37 13 32759237 32759237 + Missense_Mutation SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_023037.2 +1 validated p.R1091W 1.000 129 0% 135 22.2% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL BRCA2 675 genome.wustl.edu 37 13 32911454 32911454 + Missense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_000059.3 +1 reviewed p.D988N 0.000 91 0% 83 37.3% 2 100% probably_damaging(0.956) deleterious(0.03) deleterious(0.764) NULL AKAP11 11215 genome.wustl.edu 37 13 42874833 42874833 + Missense_Mutation SNP G G T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_016248.2 +1 reviewed p.A651S 1.000 115 0% 101 15.8% 9 22.2% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL KIAA1704 55425 genome.wustl.edu 37 13 45563829 45563829 + Missense_Mutation SNP T T A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_018559.2 +1 predicted p.F14I 1.000 27 0% 21 23.8% 14 14.2% probably_damaging(0.956) deleterious(0.04) deleterious(0.748) NULL PCDH17 27253 genome.wustl.edu 37 13 58208821 58208821 + Missense_Mutation SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_001040429.2 +1 reviewed p.T714I 0.993 41 0% 55 12.7% 2 0% benign(0.001) tolerated(0.19) neutral(0.050) NULL DZIP1 22873 genome.wustl.edu 37 13 96293635 96293635 + Missense_Mutation SNP T T C novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_198968.2 -1 validated p.K171E 0.846 78 0% 101 33.7% 12 50% probably_damaging(0.996) deleterious(0.03) deleterious(0.826) NULL KDELC1 79070 genome.wustl.edu 37 13 103438652 103438652 + Missense_Mutation SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_024089.2 -1 reviewed p.R474Q 1.000 541 0% 488 16.8% 8 0% possibly_damaging(0.687) tolerated(0.36) neutral(0.266) HMMPfam_DUF821 ABHD13 84945 genome.wustl.edu 37 13 108881802 108881802 + Missense_Mutation SNP C C A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_032859.2 +1 validated p.P79H 1.000 218 0% 203 13.8% 18 5.5% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_alpha/beta-Hydrolases TMCO3 55002 genome.wustl.edu 37 13 114193789 114193789 + Missense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_017905.4 +1 validated p.D553N 1.000 149 0% 119 35.3% 115 44.3% probably_damaging(1) tolerated(0.49) deleterious(0.510) HMMPfam_Na_H_Exchanger FAM70B 348013 genome.wustl.edu 37 13 114504642 114504642 + Missense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_182614.2 +1 provisional p.A176T 0.007 26 0% 27 22.2% 3 0% benign(0.001) tolerated(0.17) neutral(0.059) NULL RNASE1 6035 genome.wustl.edu 37 14 21269942 21269942 + Missense_Mutation SNP C C A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_002933.4 -1 reviewed p.G96W 0.448 205 0% 198 12.1% 139 2.8% possibly_damaging(0.674) deleterious(0.01) deleterious(0.645) HMMPfam_RnaseA,HMMSmart_SM00092,superfamily_RNase A-like MYH7 4625 genome.wustl.edu 37 14 23884312 23884312 + Silent SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_000257.2 -1 reviewed p.A1817 0.870 139 0% 145 19.3% 0 - - - - HMMPfam_Myosin_tail_1 NIN 51199 genome.wustl.edu 37 14 51273535 51273535 + Missense_Mutation SNP A A T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_020921.3 -1 reviewed p.V62E 0.998 250 0% 255 27.8% 5 40% unknown(0) deleterious(0) - superfamily_EF-hand HSPA2 3306 genome.wustl.edu 37 14 65009265 65009265 + Silent SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_021979.3 +1 validated p.S566 1.000 112 0.9% 188 27.7% 9 0% - - - HMMPfam_HSP70,superfamily_SSF100934 SIPA1L1 26037 genome.wustl.edu 37 14 72191430 72191430 + Missense_Mutation SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_015556.1 +1 provisional p.R1519C 1.000 193 0% 201 21.9% 62 8% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL C14orf118 55668 genome.wustl.edu 37 14 76638194 76638194 + Missense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_017926.2 +1 validated p.E246K 1.000 308 0% 288 15.3% 12 25% possibly_damaging(0.882) deleterious(0) deleterious(0.789) NULL C14orf102 55051 genome.wustl.edu 37 14 90783148 90783148 + Silent SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_017970.2 -1 validated p.L61 0.997 122 0% 135 39.3% 6 50% - - - NULL SMEK1 55671 genome.wustl.edu 37 14 91931710 91931710 + Missense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_032560.4 -1 validated p.R559C 1.000 296 0.3% 263 39.2% 28 50% probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL MIR323A 442897 genome.wustl.edu 37 14 101492104 101492104 + RNA SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 ENST00000362199 +1 known NULL 1.000 256 0% 313 41.2% 0 - - - - - XRCC3 7517 genome.wustl.edu 37 14 104165287 104165287 + Silent SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_001100118.1 -1 reviewed p.L297 0.997 22 0% 22 54.5% 13 38.4% - - - HMMPfam_Rad51,superfamily_P-loop containing nucleoside triphosphate hydrolases KIF26A 26153 genome.wustl.edu 37 14 104641858 104641858 + Silent SNP C C A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_015656.1 +1 validated p.T911 0.000 9 0.000 7 0.714 0 - - - - NULL TRPM1 4308 genome.wustl.edu 37 15 31294426 31294426 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_002420.4 -1 reviewed p.Q1471* 0.869 181 0% 234 11.5% 0 - - - - NULL OTUD7A 161725 genome.wustl.edu 37 15 31776925 31776925 + Silent SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_130901.1 -1 provisional p.A451 0.998 55 0% 53 41.5% 0 - - - - NULL GREM1 26585 genome.wustl.edu 37 15 33023224 33023224 + Silent SNP C C A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_013372.5 +1 reviewed p.R111 0.998 57 0% 63 34.9% 0 - - - - HMMPfam_DAN,HMMSmart_SM00041 AVEN 57099 genome.wustl.edu 37 15 34159707 34159707 + Missense_Mutation SNP T T C novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_020371.2 -1 validated p.Q321R 0.011 243 0% 203 15.8% 27 7.4% probably_damaging(0.978) tolerated(0.18) deleterious(0.476) NULL ACTC1 70 genome.wustl.edu 37 15 35085623 35085625 + In_Frame_Del DEL AGA AGA - novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 AGA AGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_005159.4 -1 reviewed p.F92in_frame_del 1.000:1.000:1.000 - - - - - - - - - HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain TGM5 9333 genome.wustl.edu 37 15 43531039 43531039 + Missense_Mutation SNP T T C novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_201631.3 -1 reviewed p.T441A 1.000 329 0% 335 40% 2 100% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_Cysteine proteinases SLC28A2 9153 genome.wustl.edu 37 15 45557833 45557833 + Missense_Mutation SNP T T A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_004212.3 +1 validated p.L278Q 1.000 433 0.2% 378 38.6% 13 30.7% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_Gate MYO5A 4644 genome.wustl.edu 37 15 52662539 52662539 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_000259.3 -1 reviewed p.R965* 1.000 225 0% 197 22.3% 1 0% - - - NULL RNF111 54778 genome.wustl.edu 37 15 59350735 59350735 + Missense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_017610.6 +1 reviewed p.G451D 0.998 171 0% 201 12.9% 15 6.6% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL FAM81A 145773 genome.wustl.edu 37 15 59752244 59752244 + Missense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_152450.2 +1 validated p.A45T 0.827 101 0% 97 37.1% 1 0% probably_damaging(0.996) tolerated(0.15) deleterious(0.703) NULL NPTN 27020 genome.wustl.edu 37 15 73889671 73889671 + Missense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_012428.3 -1 reviewed p.T44M 1.000 70 0% 68 20.6% 0 - probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMSmart_IGc2,superfamily_SSF48726 FBXO22 26263 genome.wustl.edu 37 15 76225111 76225111 + Missense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_147188.1 +1 reviewed p.E294K 0.998 266 0% 249 23.7% 68 44.1% benign(0.156) tolerated(0.52) neutral(0.022) NULL ADAMTS7 11173 genome.wustl.edu 37 15 79080606 79080606 + Missense_Mutation SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_014272.3 -1 reviewed p.R430H 1.000 92 0% 78 21.8% 2 50% possibly_damaging(0.654) deleterious(0.04) deleterious(0.579) "HMMPfam_Reprolysin,superfamily_Metalloproteases (""zincins"") catalytic domain" KIAA1024 23251 genome.wustl.edu 37 15 79755630 79755630 + Silent SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_015206.2 +1 validated p.G840 0.010 70 0% 81 12.3% 0 - - - - HMMPfam_UPF0258 TMC3 342125 genome.wustl.edu 37 15 81635683 81635683 + Missense_Mutation SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_001080532.1 -1 provisional p.E551K 1.000 196 0% 171 31.6% 1 0% possibly_damaging(0.67) tolerated(0.24) neutral(0.275) HMMPfam_TMC MRPS11 64963 genome.wustl.edu 37 15 89018470 89018470 + Silent SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_022839.2 +1 reviewed p.A137 0.012 100 0% 100 21% 87 22.9% - - - HMMPfam_Ribosomal_S11,superfamily_Translational machinery components IGF1R 3480 genome.wustl.edu 37 15 99500577 99500577 + Missense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_000875.3 +1 reviewed p.R1337H 0.900 20 0% 26 42.3% 39 46.1% probably_damaging(0.999) deleterious(0.03) deleterious(0.855) NULL TPSG1 25823 genome.wustl.edu 37 16 1272829 1272829 + Missense_Mutation SNP G G T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_012467.3 -1 reviewed p.L112M 0.002 40 0% 19 31.6% 0 - benign(0.11) tolerated(0.43) neutral(0.022) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases C16orf79 283870 genome.wustl.edu 37 16 2259444 2259444 + Silent SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_182563.2 -1 provisional p.Q202 1.000 40 0% 59 27.1% 3 0% - - - NULL C16orf71 146562 genome.wustl.edu 37 16 4796448 4796449 + Frame_Shift_Del DEL AG AG - novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_139170.2 +1 validated p.E373fs 0.003:0.466 - - - - - - - - - NULL USP7 7874 genome.wustl.edu 37 16 8987959 8987959 + Missense_Mutation SNP T T C novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_003470.2 -1 validated p.N1069D 1.000 208 0% 204 33.8% 145 52.4% benign(0.407) tolerated(0.7) neutral(0.134) NULL TEKT5 146279 genome.wustl.edu 37 16 10769918 10769918 + Silent SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_144674.1 -1 provisional p.S328 0.047 162 0.6% 169 24.3% 3 33.3% - - - HMMPfam_Tektin NOMO3 408050 genome.wustl.edu 37 16 16355405 16355405 + Missense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_001004067.2 +1 reviewed p.V423I 0.377 579 0% 526 37.6% 19 0% benign(0) tolerated(0.4) neutral(0.016) NULL ERN2 10595 genome.wustl.edu 37 16 23702160 23702160 + Missense_Mutation SNP C C A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_033266.3 -1 validated p.G973W 0.296 36 0% 48 25% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL IL21R 50615 genome.wustl.edu 37 16 27441399 27441399 + Missense_Mutation SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_021798.2 +1 reviewed p.R3C 0.000 17 0% 15 46.7% 0 - benign(0.004) tolerated(0.11) neutral(0.272) NULL SPNS1 83985 genome.wustl.edu 37 16 28995174 28995174 + Missense_Mutation SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_001142448.1 +1 validated p.S463L 0.995 53 0% 41 14.6% 58 43.1% possibly_damaging(0.858) deleterious(0.01) deleterious(0.737) superfamily_MFS general substrate transporter SRCAP 10847 genome.wustl.edu 37 16 30750334 30750342 + In_Frame_Del DEL CACTGTCAC CACTGTCAC - novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 CACTGTCAC CACTGTCAC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_006662.2 +1 validated p.TVT2995in_frame_del 1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.997:0.997 - - - - - - - - - NULL RNF40 9810 genome.wustl.edu 37 16 30780688 30780688 + Missense_Mutation SNP T T C novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_014771.2 +1 reviewed p.L810S 1.000 137 0% 178 44.4% 64 45.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SETD1A 9739 genome.wustl.edu 37 16 30976673 30976673 + Missense_Mutation SNP G G T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_014712.1 +1 provisional p.G537V 1.000 32 0% 33 12.1% 11 0% probably_damaging(1) - - NULL LOC729264 729264 genome.wustl.edu 37 16 32264733 32264733 + Missense_Mutation SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 XM_001133674.2 +1 model p.A20V 0.193 210 0.5% 243 9.5% 0 - - - - NULL SLC12A4 6560 genome.wustl.edu 37 16 67983738 67983738 + Silent SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_005072.4 -1 validated p.I571 0.676 116 0% 122 27% 15 40% - - - HMMPfam_AA_permease HYDIN 54768 genome.wustl.edu 37 16 71103373 71103373 + Missense_Mutation SNP T T C novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_032821.2 -1 validated p.N591D 1.000 254 0% 264 12.1% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL IST1 9798 genome.wustl.edu 37 16 71955269 71955269 + Missense_Mutation SNP A A G novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 ENST00000424485 +1 known p.S119G 1.000 233 0% 200 19% 68 7.3% - - - NULL ZFHX3 463 genome.wustl.edu 37 16 72821591 72821591 + Silent SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_006885.3 -1 reviewed p.S3528 1.000 25 0% 28 50% 3 33.3% - - - HMMSmart_SM00451 ACSF3 197322 genome.wustl.edu 37 16 89187240 89187240 + Missense_Mutation SNP G G T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_001127214.1 +1 validated p.Q386H 0.997 99 0% 106 16% 24 0% benign(0.085) deleterious(0) neutral(0.451) HMMPfam_AMP-binding,superfamily_SSF56801 ANKRD11 29123 genome.wustl.edu 37 16 89352005 89352005 + Silent SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_013275.4 -1 validated p.D315 1.000 360 0.3% 357 13.2% 15 0% - - - superfamily_Ankyrin repeat PRPF8 10594 genome.wustl.edu 37 17 1579594 1579594 + Missense_Mutation SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_006445.3 -1 reviewed p.R820H 1.000 137 0% 176 37.5% 57 52.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ZZEF1 23140 genome.wustl.edu 37 17 3955432 3955432 + Splice_Site SNP T T C novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_015113.3 -1 validated e35-2 1.000 91 0% 105 15.2% 0 - - - - - ARRB2 409 genome.wustl.edu 37 17 4621595 4621595 + Missense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_004313.3 +1 reviewed p.V221I 1.000 310 0% 278 39.2% 36 13.8% possibly_damaging(0.451) tolerated(0.84) neutral(0.148) HMMPfam_Arrestin_C,superfamily_E set domains NEURL4 84461 genome.wustl.edu 37 17 7224120 7224120 + Silent SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_032442.2 -1 validated p.I1161 0.209 68 0% 86 17.4% 12 8.3% - - - HMMPfam_Neuralized,HMMSmart_SM00588 SENP3 26168 genome.wustl.edu 37 17 7473676 7473676 + Frame_Shift_Del DEL G G - novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 ENST00000321337 +1 known p.D449fs 1.000 - - - - - - - - - HMMPfam_Peptidase_C48,superfamily_SSF54001 TP53 7157 genome.wustl.edu 37 17 7577551 7577551 + Missense_Mutation SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_000546.4 -1 reviewed p.G244S 1.000 154 0% 110 16.4% 115 7.8% possibly_damaging(0.721) deleterious(0) deleterious(0.706) PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53 CHD3 1107 genome.wustl.edu 37 17 7793982 7793982 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_001005271.2 +1 reviewed p.R162* 0.998 184 0% 225 39.1% 37 5.4% - - - NULL DNAH9 1770 genome.wustl.edu 37 17 11725851 11725851 + Missense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_001372.3 +1 reviewed p.E2983K 1.000 150 0% 138 29% 2 50% possibly_damaging(0.82) deleterious(0.04) deleterious(0.659) superfamily_P-loop containing nucleoside triphosphate hydrolases ENSG00000249596 0 genome.wustl.edu 37 17 18028635 18028635 + RNA SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 ENST00000503497 -1 novel NULL 0.000 58 0% 61 42.6% 0 - - - - - MYO15A 51168 genome.wustl.edu 37 17 18036615 18036615 + Missense_Mutation SNP G G T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_016239.3 +1 reviewed p.G1466V 0.996 90 0% 81 17.3% 0 - probably_damaging(0.995) - - HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases ENSG00000248683 0 genome.wustl.edu 37 17 18574662 18574662 + RNA DEL C C - novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 ENST00000507743 +1 novel NULL 0.997 - - - - - - - - - - MED24 9862 genome.wustl.edu 37 17 38186009 38186012 + Frame_Shift_Del DEL TGTT TGTT - novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 TGTT TGTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_014815.3 -1 reviewed p.N419fs 1.000:1.000:1.000:1.000 - - - - - - - - - NULL NR1D1 9572 genome.wustl.edu 37 17 38250184 38250184 + Silent SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_021724.2 -1 provisional p.A542 0.852 35 0% 47 29.8% 27 22.2% - - - HMMPfam_Hormone_recep,HMMSmart_HOLI,superfamily_Str_ncl_receptor KRT12 3859 genome.wustl.edu 37 17 39020022 39020022 + Missense_Mutation SNP A A G novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_000223.3 -1 reviewed p.M301T 1.000 116 0% 108 14.8% 0 - probably_damaging(0.963) tolerated(0.1) deleterious(0.692) HMMPfam_Filament KRTAP9-6 100507608 genome.wustl.edu 37 17 39421652 39421652 + Missense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 ENST00000391355 +1 known p.G8D 0.965 454 0% 479 16.1% 0 - unknown(0) tolerated(0.09) - HMMPfam_Keratin_B2 KRT13 3860 genome.wustl.edu 37 17 39659909 39659909 + Silent SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_153490.2 -1 reviewed p.D188 0.954 213 0% 215 15.3% 1 0% - - - HMMPfam_Filament PLEKHH3 79990 genome.wustl.edu 37 17 40824230 40824230 + Missense_Mutation SNP C C A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_024927.4 -1 validated p.G317V 0.382 33 0% 31 25.8% 17 23.5% possibly_damaging(0.515) deleterious(0.03) deleterious(0.538) HMMPfam_MyTH4,HMMSmart_SM00139 BRCA1 672 genome.wustl.edu 37 17 41246507 41246507 + Silent SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 ENST00000473961 -1 known p.C213Y 0.000 341 0.3% 323 20.7% 2 0% - - - NULL DHX8 1659 genome.wustl.edu 37 17 41561546 41561546 + Silent SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_004941.1 +1 reviewed p.K47 1.000 107 0% 96 22.9% 13 53.8% - - - NULL ITGB3 3690 genome.wustl.edu 37 17 45369720 45369720 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_000212.2 +1 reviewed p.W492* 1.000 119 0% 98 21.4% 1 0% - - - PatternScan_EGF_1,PatternScan_EGF_2,superfamily_EGF/Laminin IGF2BP1 10642 genome.wustl.edu 37 17 47115724 47115724 + Missense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_006546.3 +1 reviewed p.R199Q 1.000 32 0% 30 60% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00322,HMMPfam_KH_1,superfamily_Eukaryotic type KH-domain (KH-domain type I) C17orf67 339210 genome.wustl.edu 37 17 54872503 54872503 + Silent SNP A A C novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_001085430.1 -1 validated p.A89 0.001 167 0% 151 22.5% 1 0% - - - NULL DDX42 11325 genome.wustl.edu 37 17 61876952 61876952 + Silent SNP T T C novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_007372.2 +1 reviewed p.G146 1.000 554 0% 514 11.5% 41 19.5% - - - NULL SCN4A 6329 genome.wustl.edu 37 17 62050154 62050154 + Silent SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_000334.4 -1 reviewed p.C16 0.998 44 0% 38 42.1% 0 - - - - NULL SYNGR2 9144 genome.wustl.edu 37 17 76167915 76167915 + Silent SNP C C A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_004710.3 +1 reviewed p.A191 0.999 110 0% 101 18.8% 665 36% - - - NULL AZI1 22994 genome.wustl.edu 37 17 79166389 79166389 + Missense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_014984.2 -1 validated p.R812W 1.000 38 0% 26 42.3% 8 62.5% probably_damaging(1) deleterious(0) deleterious(0.945) NULL HGS 9146 genome.wustl.edu 37 17 79654056 79654056 + Silent SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_004712.3 +1 provisional p.N74 1.000 70 0% 75 29.3% 67 13.4% - - - HMMPfam_VHS,superfamily_ENTH/VHS domain,HMMSmart_SM00288 LOC100288932 100288932 genome.wustl.edu 37 18 10471887 10471887 + Missense_Mutation SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 XM_002344139.1 -1 model p.G70S 0.937 54 0% 38 34.2% 49 0% - - - NULL ANKRD30B 374860 genome.wustl.edu 37 18 14851757 14851757 + Missense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_001145029.1 +1 validated p.A1153T 0.892 105 0% 94 45.7% 0 - possibly_damaging(0.462) tolerated(0.32) neutral(0.175) NULL GREB1L 80000 genome.wustl.edu 37 18 19080511 19080511 + Missense_Mutation SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_001142966.1 +1 provisional p.T1327M 0.999 127 0% 107 11.2% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL LAMA3 3909 genome.wustl.edu 37 18 21453155 21453155 + Missense_Mutation SNP T T G novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_000227.3 +1 reviewed p.S49R 0.903 96 0% 111 21.6% 23 0% probably_damaging(0.958) deleterious(0.04) deleterious(0.750) NULL OSBPL1A 114876 genome.wustl.edu 37 18 21750301 21750303 + In_Frame_Del DEL TTC TTC - novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 TTC TTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_080597.2 -1 reviewed p.K802in_frame_del 0.994:0.996:0.942 - - - - - - - - - HMMPfam_Oxysterol_BP DSG3 1830 genome.wustl.edu 37 18 29054324 29054324 + Missense_Mutation SNP A A G novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_001944.2 +1 reviewed p.D781G 0.742 304 0% 293 37.2% 0 - benign(0.002) deleterious(0.03) neutral(0.364) NULL EPG5 57724 genome.wustl.edu 37 18 43440245 43440246 + In_Frame_Ins INS - - TCA novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_020964.2 -1 validated p.2278in_frame_insM 1.000:1.000 - - - - - - - - - NULL C18orf25 147339 genome.wustl.edu 37 18 43796549 43796549 + Missense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_145055.3 +1 validated p.A235T 1.000 30 0% 29 27.6% 9 88.8% probably_damaging(1) tolerated(0.41) deleterious(0.515) NULL ALPK2 115701 genome.wustl.edu 37 18 56246440 56246440 + Frame_Shift_Del DEL T T - novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_052947.3 -1 validated p.K523fs 0.000 - - - - - - - - - NULL POLRMT 5442 genome.wustl.edu 37 19 619016 619016 + Missense_Mutation SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_005035.3 -1 reviewed p.R1083H 1.000 70 0% 69 27.5% 78 33.3% benign(0.004) tolerated(1) - HMMPfam_RNA_pol,superfamily_SSF56672 KISS1R 84634 genome.wustl.edu 37 19 918607 918607 + Missense_Mutation SNP A A T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_032551.4 +1 reviewed p.Y103F 0.981 28 0% 27 37% 6 66.6% benign(0.141) tolerated(0.22) neutral(0.054) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like WDR18 57418 genome.wustl.edu 37 19 991256 991256 + Missense_Mutation SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_024100.3 +1 reviewed p.T279I 0.300 29 0% 30 36.7% 139 26.6% benign(0.002) tolerated(0.39) neutral(0.016) HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40 EVI5L 115704 genome.wustl.edu 37 19 7913953 7913953 + Silent SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_145245.3 +1 validated p.I158 0.339 33 0% 39 15.4% 15 33.3% - - - HMMPfam_TBC,HMMSmart_TBC,superfamily_RabGAP_TBC HNRNPM 4670 genome.wustl.edu 37 19 8550916 8550916 + Missense_Mutation SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_005968.3 +1 validated p.A535V 0.849 27 0% 23 17.4% 282 31.5% benign(0.029) deleterious(0.03) neutral(0.366) NULL ACTL9 284382 genome.wustl.edu 37 19 8808404 8808404 + Silent SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_178525.3 -1 validated p.H216 0.982 19 0% 20 25% 0 - - - - HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain MUC16 94025 genome.wustl.edu 37 19 9072190 9072190 + Missense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_024690.2 -1 validated p.R5086C 0.000 299 0% 318 23.3% 7 14.2% unknown(0) - - NULL ZNF564 163050 genome.wustl.edu 37 19 12638345 12638345 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_144976.3 -1 validated p.G193* 1.000 365 0% 318 14.8% 11 45.4% - - - superfamily_C2H2 and C2HC zinc fingers ILVBL 10994 genome.wustl.edu 37 19 15234252 15234252 + Missense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_006844.3 -1 reviewed p.R91C 1.000 30 0% 44 36.4% 44 27.2% possibly_damaging(0.729) deleterious(0) deleterious(0.710) HMMPfam_TPP_enzyme_N,superfamily_Thiamin diphosphate-binding fold (THDP-binding) NOTCH3 4854 genome.wustl.edu 37 19 15298704 15298704 + Missense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_000435.2 -1 reviewed p.R532C 1.000 13 0% 18 27.8% 80 37.5% probably_damaging(1) tolerated(0.07) deleterious(0.819) PatternScan_ASX_HYDROXYL,HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_EGF/Laminin AKAP8L 26993 genome.wustl.edu 37 19 15514458 15514458 + Missense_Mutation SNP C C A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_014371.2 -1 validated p.A64S 1.000 183 0% 181 14.4% 24 4.1% possibly_damaging(0.892) deleterious(0) deleterious(0.796) NULL FAM129C 199786 genome.wustl.edu 37 19 17644402 17644402 + Missense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_173544.4 +1 validated p.E138K 0.558 87 0% 98 17.3% 0 - possibly_damaging(0.8) tolerated(0.07) deleterious(0.620) HMMSmart_SM00233,superfamily_PH domain-like SLC5A5 6528 genome.wustl.edu 37 19 17985339 17985339 + Missense_Mutation SNP C C A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_000453.2 +1 reviewed p.L154I 0.990 124 0% 132 46.2% 0 - probably_damaging(0.953) deleterious(0.03) deleterious(0.761) HMMPfam_SSF COMP 1311 genome.wustl.edu 37 19 18901372 18901372 + Silent SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_000095.2 -1 reviewed p.C72 1.000 105 0% 92 13% 1 0% - - - NULL ZNF85 7639 genome.wustl.edu 37 19 21132217 21132217 + Silent SNP A A G novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_003429.3 +1 validated p.S299 0.000 69 0% 66 50% 2 0% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers VSTM2B 342865 genome.wustl.edu 37 19 30054821 30054821 + Missense_Mutation SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 ENST00000335523 +1 known p.R280C 0.087 240 0% 229 38.4% 0 - unknown(0) tolerated(0.16) - NULL ZNF507 22847 genome.wustl.edu 37 19 32847540 32847541 + Frame_Shift_Del DEL GA GA - novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 GA GA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_001136156.1 +1 validated p.E718fs 1.000:1.000 - - - - - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers MAG 4099 genome.wustl.edu 37 19 35800857 35800857 + Missense_Mutation SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_002361.2 +1 reviewed p.P438S 1.000 21 0% 30 36.7% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF48726 MLL4 9757 genome.wustl.edu 37 19 36211625 36211625 + Missense_Mutation SNP C C A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_014727.1 +1 reviewed p.P459H 0.975 30 0% 23 60.9% 10 50% unknown(0) deleterious(0) - NULL MLL4 9757 genome.wustl.edu 37 19 36211742 36211742 + Missense_Mutation SNP C C A rs80216638 byCluster;byFrequency;by1000genomes TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_014727.1 +1 reviewed p.T498N 0.046 12 25% 24 62.5% 4 75% unknown(0) tolerated(0.37) - NULL ARHGAP33 115703 genome.wustl.edu 37 19 36278727 36278727 + Missense_Mutation SNP A A G novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_052948.3 +1 reviewed p.Y926C 1.000 40 0% 31 51.6% 2 50% probably_damaging(0.983) deleterious(0) deleterious(0.873) NULL TYROBP 7305 genome.wustl.edu 37 19 36398641 36398641 + Missense_Mutation SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_198125.2 -1 reviewed p.A29T 0.998 133 0% 142 36.6% 67 0% possibly_damaging(0.913) deleterious(0.05) deleterious(0.710) NULL RYR1 6261 genome.wustl.edu 37 19 38956836 38956836 + Missense_Mutation SNP C C A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_000540.2 +1 reviewed p.H992Q 1.000 24 0% 29 37.9% 0 - possibly_damaging(0.794) - - HMMPfam_RyR ENSG00000213926 0 genome.wustl.edu 37 19 39745611 39745611 + Missense_Mutation SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 ENST00000396851 -1 known p.S96N 1.000 60 0% 41 19.5% 0 - - - - HMMPfam_SelR,superfamily_Mss4-like CYP2A7 1549 genome.wustl.edu 37 19 41383138 41383138 + Missense_Mutation SNP C C A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_000764.2 -1 reviewed p.R373M 0.000 259 0% 210 11.9% 0 - probably_damaging(0.963) tolerated(0.11) deleterious(0.677) HMMPfam_p450,superfamily_Cytochrome_P450 ATP1A3 478 genome.wustl.edu 37 19 42471416 42471416 + Missense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_152296.3 -1 reviewed p.R1000C 1.000 62 0% 46 28.3% 1 0% possibly_damaging(0.895) deleterious(0.01) deleterious(0.758) superfamily_SSF81665 CBLC 23624 genome.wustl.edu 37 19 45303674 45303674 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_012116.3 +1 validated p.G467* 0.000 71 0% 62 43.5% 59 49.1% - - - NULL PRKD2 25865 genome.wustl.edu 37 19 47197139 47197139 + Silent SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_001079880.1 -1 reviewed p.A523 0.003 75 0% 61 16.4% 48 16.6% - - - NULL SLC8A2 6543 genome.wustl.edu 37 19 47935353 47935353 + Silent SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 ENST00000391903 -1 known p.A648 0.000 34 0% 43 32.6% 0 - - - - NULL GLTSCR2 29997 genome.wustl.edu 37 19 48258061 48258061 + Silent SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_015710.4 +1 validated p.A322 0.000 13 0% 23 39.1% 292 46.2% - - - HMMPfam_Nop53 CYTH2 9266 genome.wustl.edu 37 19 48977229 48977229 + Missense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_017457.4 +1 reviewed p.A168T 1.000 89 0% 79 34.2% 72 40.2% probably_damaging(0.987) deleterious(0) deleterious(0.881) HMMPfam_Sec7,HMMSmart_SM00222,superfamily_Sec7 domain PNKP 11284 genome.wustl.edu 37 19 50365843 50365843 + Missense_Mutation SNP G G T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_007254.2 -1 provisional p.N296K 1.000 26 0% 21 19% 39 7.6% benign(0.031) tolerated(0.33) neutral(0.026) HMMPfam_PNK3P,superfamily_SSF56784 ZNF836 162962 genome.wustl.edu 37 19 52658196 52658196 + Missense_Mutation SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_001102657.1 -1 provisional p.A914T 0.093 445 0% 429 12.8% 2 0% benign(0.008) deleterious(0.01) neutral(0.406) superfamily_SSF57667 RDH13 112724 genome.wustl.edu 37 19 55568112 55568112 + Silent SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_138412.3 -1 reviewed p.R12 0.000 161 0% 111 20.7% 13 53.8% - - - superfamily_NAD(P)-binding Rossmann-fold domains U2AF2 11338 genome.wustl.edu 37 19 56172440 56172440 + Missense_Mutation SNP C C A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_007279.2 +1 reviewed p.T124N 1.000 128 0% 102 45.1% 192 43.2% possibly_damaging(0.731) tolerated(0.24) neutral(0.304) NULL OVOL2 58495 genome.wustl.edu 37 20 18005299 18005299 + Missense_Mutation SNP T T C novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_021220.2 -1 validated p.E270G 0.971 205 0% 273 12.5% 45 2.2% benign(0.006) deleterious(0.01) neutral(0.406) NULL CSRP2BP 57325 genome.wustl.edu 37 20 18143395 18143395 + Missense_Mutation SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_020536.4 +1 reviewed p.R493C 1.000 92 0% 122 15.6% 29 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL RALGAPA2 57186 genome.wustl.edu 37 20 20586007 20586007 + Missense_Mutation SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_020343.2 -1 validated p.R617Q 1.000 129 0% 124 25% 4 0% probably_damaging(1) tolerated(0.26) deleterious(0.534) NULL RALGAPA2 57186 genome.wustl.edu 37 20 20618076 20618076 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_020343.2 -1 validated p.R246* 1.000 175 0% 183 17.5% 2 0% - - - NULL GZF1 64412 genome.wustl.edu 37 20 23345952 23345954 + In_Frame_Del DEL AGA AGA - novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 AGA AGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_022482.3 +1 validated p.K314in_frame_del 0.001:0.001:0.017 - - - - - - - - - superfamily_C2H2 and C2HC zinc fingers EFCAB8 388795 genome.wustl.edu 37 20 31481016 31481016 + Silent SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 ENST00000400522 +1 known p.T273M 0.998 173 0% 136 19.1% 0 - - - - superfamily_WD40 repeat-like TP53INP2 58476 genome.wustl.edu 37 20 33296632 33296632 + Missense_Mutation SNP A A T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_021202.1 +1 provisional p.D30V 1.000 91 0% 104 40.4% 3 33.3% probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL NCOA6 23054 genome.wustl.edu 37 20 33345744 33345744 + Silent SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_014071.2 -1 reviewed p.Q269 0.002 145 2.1% 170 39.4% 10 60% - - - NULL DSN1 79980 genome.wustl.edu 37 20 35399305 35399305 + Missense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_001145315.1 -1 reviewed p.S109L 0.999 111 0% 118 11% 9 11.1% probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_Mis12_component SERINC3 10955 genome.wustl.edu 37 20 43129864 43129864 + Missense_Mutation SNP G G C novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_006811.2 -1 validated p.T378S 0.000 143 0% 169 43.2% 69 47.8% benign(0) tolerated(0.83) neutral(0.001) HMMPfam_Serinc PABPC1L 80336 genome.wustl.edu 37 20 43565343 43565343 + Silent SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 ENST00000372826 +1 known p.R75H 0.002 41 0% 43 37.2% 7 0% - - - HMMPfam_PABP,superfamily_PABC (PABP) domain NFATC2 4773 genome.wustl.edu 37 20 50139701 50139701 + Missense_Mutation SNP C C A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_173091.2 -1 reviewed p.R360M 0.998 38 0% 33 30.3% 2 50% possibly_damaging(0.508) tolerated(0.06) deleterious(0.493) NULL SALL4 57167 genome.wustl.edu 37 20 50408037 50408037 + Missense_Mutation SNP G G T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_020436.3 -1 reviewed p.R329S 0.070 57 0% 57 26.3% 1 0% probably_damaging(0.996) tolerated(0.99) neutral(0.462) NULL RAE1 8480 genome.wustl.edu 37 20 55940493 55940493 + Missense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_001015885.1 +1 reviewed p.A124T 1.000 95 0% 84 31% 34 23.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 BACH1 571 genome.wustl.edu 37 21 30715024 30715024 + Missense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_001186.2 +1 reviewed p.R694Q 0.000 63 0% 59 23.7% 10 10% benign(0.001) tolerated(0.5) neutral(0.010) NULL CLDN8 9073 genome.wustl.edu 37 21 31587886 31587886 + Silent SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_199328.2 -1 reviewed p.L120 0.638 136 0% 116 14.7% 1 100% - - - HMMPfam_PMP22_Claudin KRTAP13-1 140258 genome.wustl.edu 37 21 31768471 31768471 + Missense_Mutation SNP G G T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_181599.2 +1 validated p.A23S 0.004 228 0% 251 38.2% 0 - benign(0) tolerated(0.61) neutral(0.004) HMMPfam_PMG KRTAP21-1 337977 genome.wustl.edu 37 21 32127678 32127678 + Missense_Mutation SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_181619.1 -1 provisional p.G7S 0.422 244 0% 270 44.8% 0 - unknown(0) tolerated(0.52) - NULL TIAM1 7074 genome.wustl.edu 37 21 32502539 32502539 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 ENST00000423206 -1 known p.R1* 0.995 72 0% 82 53.7% 1 0% benign(0.004) tolerated(0.09) neutral(0.296) NULL SCAF4 57466 genome.wustl.edu 37 21 33068476 33068476 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_020706.2 -1 reviewed p.Q340* 1.000 150 0% 181 14.4% 23 0% - - - NULL HUNK 30811 genome.wustl.edu 37 21 33368255 33368255 + Missense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_014586.1 +1 validated p.D494N 0.984 60 1.7% 51 43.1% 0 - possibly_damaging(0.798) deleterious(0.03) deleterious(0.665) NULL CHAF1B 8208 genome.wustl.edu 37 21 37785304 37785304 + Missense_Mutation SNP C C A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_005441.2 +1 reviewed p.P395H 0.971 117 0% 118 22% 26 34.6% possibly_damaging(0.845) deleterious(0.01) deleterious(0.730) NULL BACE2 25825 genome.wustl.edu 37 21 42609502 42609502 + Missense_Mutation SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_012105.3 +1 reviewed p.T155M 0.960 166 0% 195 24.1% 119 30.2% probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_Asp,superfamily_Acid proteases HSF2BP 11077 genome.wustl.edu 37 21 45053166 45053166 + Missense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_007031.1 -1 reviewed p.A143V 0.966 229 0% 242 42.6% 0 - benign(0.036) tolerated(0.27) neutral(0.036) superfamily_ARM repeat YBEY 54059 genome.wustl.edu 37 21 47716081 47716081 + Silent SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_058181.1 +1 validated p.T115 0.290 47 0% 30 26.7% 23 26% - - - "HMMPfam_UPF0054,superfamily_Metalloproteases (""zincins"") catalytic domain" GAB4 128954 genome.wustl.edu 37 22 17450936 17450936 + Silent SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_001037814.1 -1 provisional p.Q278 0.997 156 0% 159 15.1% 0 - - - - NULL PRODH 5625 genome.wustl.edu 37 22 18913199 18913199 + Splice_Site SNP A A G novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_016335.3 -1 reviewed e3+2 1.000 30 0% 45 24.4% 0 - - - - - LZTR1 8216 genome.wustl.edu 37 22 21346572 21346572 + Missense_Mutation SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_006767.3 +1 reviewed p.R355W 0.998 104 0% 76 50% 12 16.6% probably_damaging(0.995) tolerated(0.18) deleterious(0.514) superfamily_Galactose oxidase central domain CHEK2 11200 genome.wustl.edu 37 22 29115437 29115437 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_001005735.1 -1 reviewed p.S253* 0.997 193 0% 203 18.7% 12 8.3% - - - superfamily_SMAD/FHA domain,superfamily_Protein kinase-like (PK-like) EWSR1 2130 genome.wustl.edu 37 22 29692298 29692298 + Missense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_005243.3 +1 reviewed p.D412N 0.989 100 0% 121 14% 253 8.6% probably_damaging(0.987) deleterious(0.01) deleterious(0.842) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD AP1B1 162 genome.wustl.edu 37 22 29735003 29735003 + Silent SNP T T C novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_001127.3 -1 reviewed p.S713 0.993 95 0% 78 17.9% 191 11.5% - - - NULL NEFH 4744 genome.wustl.edu 37 22 29886276 29886276 + Missense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_021076.3 +1 reviewed p.E883K 0.987 228 0% 241 18.7% 0 - unknown(0) deleterious(0.02) - NULL CSF2RB 1439 genome.wustl.edu 37 22 37333924 37333924 + Missense_Mutation SNP C C A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_000395.2 +1 reviewed p.P692T 0.003 56 0% 55 38.2% 1 0% probably_damaging(0.998) deleterious(0.03) deleterious(0.839) NULL STS 412 genome.wustl.edu 37 X 7252143 7252143 + Missense_Mutation SNP A A G novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_000351.4 +1 reviewed p.Q458R 0.000 120 0% 113 12.4% 17 0% benign(0) tolerated(0.95) - HMMPfam_Sulfatase,superfamily_Alkaline_phosphatase_core WWC3 55841 genome.wustl.edu 37 X 10096135 10096135 + Missense_Mutation SNP G G T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_015691.3 +1 validated p.E738D 0.068 86 1.2% 86 32.6% 7 14.2% benign(0.122) tolerated(0.5) neutral(0.020) NULL RAI2 10742 genome.wustl.edu 37 X 17819909 17819909 + Silent SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_021785.4 -1 reviewed p.A74 0.071 79 0% 71 36.6% 37 91.8% - - - NULL USP9X 8239 genome.wustl.edu 37 X 40990752 40990752 + Silent SNP A A G novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_001039590.2 +1 reviewed p.E95 1.000 618 0% 553 14.6% 22 0% - - - NULL SLC9A7 84679 genome.wustl.edu 37 X 46466492 46466492 + Silent SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_032591.1 -1 reviewed p.T691 0.731 148 0% 135 22.2% 5 0% - - - NULL KCND1 3750 genome.wustl.edu 37 X 48826088 48826088 + Silent SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_004979.4 -1 reviewed p.A197 0.867 19 0% 16 31.2% 0 - - - - superfamily_Voltage-gated potassium channels SHROOM4 57477 genome.wustl.edu 37 X 50350731 50350731 + Silent SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_020717.3 -1 reviewed p.E1137 0.000 39 2.6% 48 37.5% 1 0% - - - NULL ENSG00000245461 0 genome.wustl.edu 37 X 51488621 51488621 + RNA SNP G G C novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 ENST00000502175 -1 novel NULL 0.969 237 0% 211 14.7% 0 - - - - - HUWE1 10075 genome.wustl.edu 37 X 53571562 53571562 + Missense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_031407.4 -1 reviewed p.T3737M 1.000 119 0% 161 39.8% 115 0% unknown(0) tolerated(0.12) - NULL PAGE2 203569 genome.wustl.edu 37 X 55117771 55117771 + Missense_Mutation SNP A A G novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_207339.2 +1 provisional p.D67G 0.000 674 0.1% 593 40% 0 - probably_damaging(0.992) deleterious(0) deleterious(0.892) HMMPfam_GAGE MAGEH1 28986 genome.wustl.edu 37 X 55479358 55479358 + Missense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_014061.3 +1 reviewed p.R184H 0.010 122 0% 164 22% 1 0% benign(0.184) tolerated(0.61) neutral(0.021) NULL DLG3 1741 genome.wustl.edu 37 X 69669661 69669661 + Missense_Mutation SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_021120.3 +1 reviewed p.P219S 1.000 59 0% 61 41% 0 - benign(0) tolerated(0.06) neutral(0.323) superfamily_PDZ domain-like ERCC6L 54821 genome.wustl.edu 37 X 71425281 71425281 + Silent SNP T T C novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_017669.2 -1 validated p.E1112 0.211 177 0% 123 39% 8 100% - - - NULL MAGEE2 139599 genome.wustl.edu 37 X 75004572 75004572 + Silent SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_138703.4 -1 validated p.T105 0.000 52 0% 51 17.6% 0 - - - - HMMPfam_MAGE MIR1911 100302222 genome.wustl.edu 37 X 113997817 113997817 + RNA SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 ENST00000410783 +1 known NULL 0.994 153 0% 115 41.7% 0 - - - - - PLS3 5358 genome.wustl.edu 37 X 114871257 114871257 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_001136025.3 +1 reviewed p.W286* 1.000 266 0% 239 18% 16 6.2% - - - HMMPfam_CH,HMMSmart_SM00033,superfamily_Calponin-homology domain CH-domain KIAA1210 57481 genome.wustl.edu 37 X 118223296 118223296 + Missense_Mutation SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_020721.1 -1 validated p.A633T 0.000 366 0% 353 25.5% 0 - probably_damaging(0.972) tolerated(0.18) deleterious(0.470) NULL STAG2 10735 genome.wustl.edu 37 X 123217338 123217338 + Missense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_001042749.1 +1 validated p.A998T 1.000 329 0% 250 16.4% 38 0% benign(0.059) tolerated(0.14) neutral(0.254) superfamily_ARM-type_fold MTMR1 8776 genome.wustl.edu 37 X 149898617 149898617 + Missense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_003828.2 +1 reviewed p.E190K 1.000 374 0% 298 42.6% 7 100% benign(0.422) tolerated(0.5) neutral(0.147) superfamily_PH domain-like ATP2B3 492 genome.wustl.edu 37 X 152845730 152845730 + Missense_Mutation SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_001001344.2 +1 reviewed p.L1213F 0.977 76 0% 85 24.7% 0 - possibly_damaging(0.952) tolerated(0.11) deleterious(0.667) NULL SLC6A8 6535 genome.wustl.edu 37 X 152959562 152959562 + Missense_Mutation SNP G G A novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 ENST00000328897 +1 known p.R452Q 0.000 70 0% 45 40% 0 - benign(0.162) deleterious(0) neutral(0.459) HMMPfam_SNF ARHGAP4 393 genome.wustl.edu 37 X 153176393 153176393 + Missense_Mutation SNP C C T novel TCGA-B5-A11J-01A-11D-A122-09 TCGA-B5-A11J-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878f795c-dcfa-4695-a5df-efcfc770fe7a fbde60fc-1678-49f6-b44d-a15dd9f770e2 NM_001666.4 -1 reviewed p.R555H 0.268 33 3% 37 32.4% 7 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RhoGAP,HMMSmart_RhoGAP,superfamily_Rho_GAP