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 SLC25A33 84275 genome.wustl.edu 37 1 9640108 9640108 + Silent SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_032315.2 +1 validated p.S193 0.000 81 0% 61 36.1% - - - - - superfamily_Mitoch_carrier,HMMPfam_Mito_carr TARDBP 23435 genome.wustl.edu 37 1 11082185 11082185 + Missense_Mutation SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_007375.3 +1 reviewed p.A240V 1.000 61 0% 85 42.4% - - possibly_damaging(0.659) deleterious(0.03) deleterious(0.597) HMMSmart_SM00360,superfamily_RNA-binding domain RBD PRDM2 7799 genome.wustl.edu 37 1 14107099 14107099 + Missense_Mutation SNP A A G novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_012231.4 +1 reviewed p.T937A 0.000 390 0% 334 43.1% - - unknown(0) tolerated(0.15) - NULL HSPG2 3339 genome.wustl.edu 37 1 22199913 22199913 + Missense_Mutation SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df ENST00000374695 -1 known p.A1250T 1.000 51 0% 65 35.4% - - probably_damaging(0.998) deleterious(0.04) deleterious(0.823) HMMPfam_Laminin_EGF,HMMSmart_SM00180,PatternScan_EGF_LAM_1,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,superfamily_EGF/Laminin SRRM1 10250 genome.wustl.edu 37 1 24979442 24979442 + Missense_Mutation SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_005839.3 +1 validated p.R320Q 1.000 81 0% 76 55.3% - - unknown(0) tolerated(0.35) - NULL ARID1A 8289 genome.wustl.edu 37 1 27106180 27106180 + Nonsense_Mutation SNP G G T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_006015.4 +1 reviewed p.E1931* 1.000 341 0% 366 43.7% - - - - - NULL C1orf172 126695 genome.wustl.edu 37 1 27278751 27278751 + Missense_Mutation SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_152365.2 -1 validated p.R41C 0.593 20 0% 12 50% - - probably_damaging(0.995) deleterious(0.02) deleterious(0.841) NULL ZSCAN20 7579 genome.wustl.edu 37 1 33959109 33959109 + Silent SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_145238.3 +1 validated p.R589 0.025 294 0% 203 36% - - - - - NULL GJB5 2709 genome.wustl.edu 37 1 35223627 35223627 + Silent SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_005268.2 +1 provisional p.H232 0.000 91 0% 55 34.5% - - - - - NULL ZC3H12A 80149 genome.wustl.edu 37 1 37941298 37941298 + Silent SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_025079.2 +1 validated p.S67 0.026 41 0% 22 59.1% - - - - - NULL C1orf173 127254 genome.wustl.edu 37 1 75072527 75072527 + Missense_Mutation SNP T T C novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_001002912.4 -1 validated p.K416R 0.471 362 0% 329 44.4% - - benign(0.004) tolerated(0.55) neutral(0.007) NULL CLCA2 9635 genome.wustl.edu 37 1 86890041 86890041 + Silent SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_006536.5 +1 reviewed p.D37 0.994 110 0% 95 40% - - - - - HMMPfam_CLCA_N HFM1 164045 genome.wustl.edu 37 1 91781407 91781407 + Silent SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df ENST00000430465 -1 known p.T247M 1.000 116 0% 87 47.1% - - - - - NULL BCAR3 8412 genome.wustl.edu 37 1 94048388 94048388 + Missense_Mutation SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_003567.2 -1 reviewed p.A386T 0.000 74 0% 46 30.4% - - benign(0) tolerated(0.38) neutral(0.018) superfamily_Ras GEF AMY2B 280 genome.wustl.edu 37 1 104122082 104122082 + Missense_Mutation SNP A A T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_020978.3 +1 reviewed p.E499V 1.000 835 0% 859 22.2% - - benign(0.037) tolerated(0.14) neutral(0.252) HMMPfam_Alpha-amylase_C,HMMSmart_SM00632,superfamily_Glycosyl hydrolase domain KCND3 3752 genome.wustl.edu 37 1 112525298 112525298 + Silent SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_004980.3 -1 reviewed p.I17 0.600 37 0% 13 53.8% - - - - - NULL NRAS 4893 genome.wustl.edu 37 1 115256529 115256529 + Missense_Mutation SNP T T C rs11554290 byCluster TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_002524.3 -1 reviewed p.Q61R 1.000 322 0% 226 41.2% - - benign(0.004) deleterious(0.01) neutral(0.406) HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases SYCP1 6847 genome.wustl.edu 37 1 115456608 115456609 + Frame_Shift_Ins INS - - A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_003176.2 +1 validated p.E555fs 1.000:1.000 - - - - - - - - - HMMPfam_SCP-1 TCHH 7062 genome.wustl.edu 37 1 152082585 152082585 + Missense_Mutation SNP C C A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_007113.2 -1 provisional p.E1036D 0.001 489 0% 485 38.1% - - unknown(0) - - NULL FLG 2312 genome.wustl.edu 37 1 152275812 152275812 + Silent SNP T T C novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_002016.1 -1 reviewed p.S3850 0.000 472 0% 371 43.4% - - - - - HMMPfam_Filaggrin LOC100289267 100289267 genome.wustl.edu 37 1 152770637 152770637 + Frame_Shift_Del DEL C C - novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df XM_002342136.1 -1 model p.G38fs 0.000 - - - - - - - - - NULL FAM189B 10712 genome.wustl.edu 37 1 155220493 155220493 + Missense_Mutation SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_006589.2 -1 validated p.V362I 1.000 17 0% 33 39.4% - - benign(0.029) deleterious(0.02) neutral(0.385) NULL LMNA 4000 genome.wustl.edu 37 1 156105054 156105054 + Missense_Mutation SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_170707.2 +1 reviewed p.R296H 1.000 23 0% 15 46.7% - - benign(0.083) tolerated(0.06) neutral(0.329) HMMPfam_Filament OR6N2 81442 genome.wustl.edu 37 1 158746569 158746569 + Missense_Mutation SNP T T C novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_001005278.1 -1 provisional p.N286S 1.000 475 0% 483 47.6% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_7tm_1,superfamily_SSF81321 DCAF8 50717 genome.wustl.edu 37 1 160209761 160209761 + Missense_Mutation SNP G G T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_015726.3 -1 reviewed p.P150H 1.000 127 0.8% 97 42.3% - - probably_damaging(0.999) tolerated(0.1) deleterious(0.777) superfamily_WD40 repeat-like ARHGAP30 257106 genome.wustl.edu 37 1 161018208 161018208 + Missense_Mutation SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_001025598.1 -1 validated p.A868V 0.004 217 0% 176 46% - - benign(0) deleterious(0) neutral(0.445) NULL NOS1AP 9722 genome.wustl.edu 37 1 162124246 162124246 + Missense_Mutation SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_014697.2 +1 reviewed p.A53T 1.000 58 0% 45 26.7% - - benign(0.001) tolerated(0.09) neutral(0.296) HMMPfam_PID,HMMSmart_PTB,superfamily_SSF50729 TMCO1 54499 genome.wustl.edu 37 1 165721364 165721364 + Missense_Mutation SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_019026.3 -1 validated p.A100T 1.000 76 0% 101 37.6% - - benign(0.086) tolerated(0.12) neutral(0.267) HMMPfam_DUF841 FAM5B 57795 genome.wustl.edu 37 1 177226475 177226475 + Silent SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_021165.2 +1 provisional p.T208 0.001 68 0% 63 38.1% - - - - - HMMSmart_SM00457 CACNA1E 777 genome.wustl.edu 37 1 181745318 181745318 + Silent SNP T T C novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_000721.2 +1 reviewed p.L1741 0.941 173 0% 130 46.2% - - - - - superfamily_Voltage-gated potassium channels EDEM3 80267 genome.wustl.edu 37 1 184706771 184706771 + Silent SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_025191.3 -1 validated p.R93 0.998 104 0% 86 40.7% - - - - - HMMPfam_Glyco_hydro_47,superfamily_Glyco_hydro_47 SLC45A3 85414 genome.wustl.edu 37 1 205628523 205628523 + Silent SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_033102.2 -1 validated p.L501 1.000 40 0% 30 50% - - - - - NULL RPS6KC1 26750 genome.wustl.edu 37 1 213414485 213414485 + Missense_Mutation SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_012424.3 +1 validated p.A556T 0.002 222 0% 161 46% - - benign(0) tolerated(0.63) neutral(0.004) NULL PROX1 5629 genome.wustl.edu 37 1 214171523 214171523 + Missense_Mutation SNP G G T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_002763.3 +1 provisional p.G549W 1.000 298 0% 258 45.7% - - probably_damaging(0.992) deleterious(0) deleterious(0.892) HMMPfam_Prox1 OBSCN 84033 genome.wustl.edu 37 1 228431101 228431101 + Silent SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_001098623.1 +1 reviewed p.A1049 0.135 54 0% 95 38.9% - - - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin WDR64 128025 genome.wustl.edu 37 1 241875108 241875108 + Missense_Mutation SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_144625.4 +1 validated p.V37I 1.000 80 0% 52 57.7% - - probably_damaging(0.973) tolerated(0.2) neutral(0.464) HMMSmart_SM00320,superfamily_WD40 repeat-like KIF26B 55083 genome.wustl.edu 37 1 245862256 245862256 + Missense_Mutation SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_018012.3 +1 provisional p.R2032H 1.000 63 0% 54 51.9% - - possibly_damaging(0.935) deleterious(0) deleterious(0.825) NULL PGBD2 267002 genome.wustl.edu 37 1 249211112 249211112 + Missense_Mutation SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_170725.2 +1 validated p.R110H 0.000 140 0% 125 35.2% - - benign(0.016) tolerated(0.41) neutral(0.015) NULL WDR35 57539 genome.wustl.edu 37 2 20169285 20169285 + Missense_Mutation SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_001006657.1 -1 reviewed p.V322I 1.000 105 0% 107 49.5% - - possibly_damaging(0.839) tolerated(0.17) neutral(0.380) superfamily_WD40 repeat-like GTF3C2 2976 genome.wustl.edu 37 2 27549588 27549588 + Missense_Mutation SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_001035521.1 -1 validated p.R897Q 1.000 56 0% 52 48.1% - - benign(0.001) tolerated(0.43) neutral(0.013) NULL GCKR 2646 genome.wustl.edu 37 2 27722028 27722028 + Missense_Mutation SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_001486.3 +1 reviewed p.E150K 0.988 71 0% 60 48.3% - - possibly_damaging(0.945) deleterious(0) deleterious(0.834) superfamily_SIS domain SRBD1 55133 genome.wustl.edu 37 2 45789831 45789831 + Missense_Mutation SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_018079.4 -1 validated p.G457E 1.000 171 0% 166 44.6% - - possibly_damaging(0.452) tolerated(0.45) neutral(0.160) NULL ATP6V1E2 90423 genome.wustl.edu 37 2 46739478 46739478 + Missense_Mutation SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_080653.3 -1 validated p.L125F 0.959 112 0% 113 46.9% - - benign(0.001) tolerated(0.4) neutral(0.016) HMMPfam_vATP-synt_E TTC7A 57217 genome.wustl.edu 37 2 47233805 47233805 + Missense_Mutation SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_020458.2 +1 validated p.A410V 1.000 40 0% 14 35.7% - - probably_damaging(0.997) deleterious(0.01) deleterious(0.872) superfamily_TPR-like PSME4 23198 genome.wustl.edu 37 2 54102789 54102789 + Missense_Mutation SNP G G T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_014614.2 -1 validated p.P1640H 1.000 101 0% 96 32.3% - - probably_damaging(0.993) deleterious(0.04) deleterious(0.799) superfamily_ARM repeat FAM161A 84140 genome.wustl.edu 37 2 62069294 62069294 + Missense_Mutation SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_032180.2 -1 validated p.V129M 0.013 186 0% 115 39.1% - - benign(0.001) tolerated(0.17) neutral(0.059) NULL GMCL1 64395 genome.wustl.edu 37 2 70096929 70096929 + Missense_Mutation SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_178439.3 +1 provisional p.R433C 1.000 122 0% 112 24.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL DOK1 1796 genome.wustl.edu 37 2 74783473 74783473 + Missense_Mutation SNP A A G novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df ENST00000340004 +1 known p.R165G 0.004 92 0% 65 43.1% - - unknown(0) deleterious(0) - NULL SEMA4F 10505 genome.wustl.edu 37 2 74907085 74907085 + Nonsense_Mutation SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_004263.3 +1 provisional p.R688* 0.963 82 0% 71 47.9% - - - - - NULL TGOLN2 10618 genome.wustl.edu 37 2 85554364 85554364 + Missense_Mutation SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_006464.2 -1 validated p.S164N 0.000 502 0% 481 45.9% - - probably_damaging(0.955) tolerated(0.46) neutral(0.411) NULL RETSAT 54884 genome.wustl.edu 37 2 85576578 85576578 + Missense_Mutation SNP C C T rs143604495 by1000genomes TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_017750.3 -1 validated p.R309Q 1.000 40 0% 29 44.8% - - possibly_damaging(0.501) tolerated(0.11) neutral(0.439) superfamily_FAD/NAD(P)-binding domain USP39 10713 genome.wustl.edu 37 2 85857947 85857947 + Missense_Mutation SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_006590.2 +1 validated p.R276H 1.000 178 0% 157 43.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_UCH,superfamily_Cysteine proteinases REEP1 65055 genome.wustl.edu 37 2 86479080 86479080 + Missense_Mutation SNP C C A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_022912.2 -1 reviewed p.K139N 1.000 360 0% 234 10.3% - - possibly_damaging(0.929) tolerated(0.05) deleterious(0.722) NULL ADRA2B 151 genome.wustl.edu 37 2 96781457 96781457 + Silent SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df ENST00000409345 -1 known p.S144 0.918 20 0% 17 70.6% - - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like IL1F10 84639 genome.wustl.edu 37 2 113832800 113832800 + Silent SNP A A G novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_032556.4 +1 reviewed p.S106 0.004 301 0% 243 50.6% - - - - - HMMPfam_IL1,HMMSmart_SM00125,superfamily_Cytokine STEAP3 55240 genome.wustl.edu 37 2 120020768 120020768 + Missense_Mutation SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_182915.2 +1 validated p.V451I 0.002 92 0% 61 27.9% - - benign(0.039) tolerated(0.73) neutral(0.004) NULL ZNF806 646915 genome.wustl.edu 37 2 133066888 133066888 + Missense_Mutation SNP A A G novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df XM_001724242.2 +1 model p.K3E 0.027 406 0% 338 27.5% - - - - - superfamily_Krueppel-associated_box STAM2 10254 genome.wustl.edu 37 2 152977232 152977232 + Silent SNP T T C novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_005843.4 -1 reviewed p.T478 0.433 179 0% 214 14% - - - - - NULL NR4A2 4929 genome.wustl.edu 37 2 157184955 157184955 + Nonsense_Mutation SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_006186.3 -1 reviewed p.R319* 1.000 80 0% 69 34.8% - - - - - HMMPfam_zf-C4,HMMSmart_SM00399,superfamily_Glucocorticoid receptor-like (DNA-binding domain) LRP2 4036 genome.wustl.edu 37 2 170062574 170062574 + Silent SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_004525.2 -1 reviewed p.R2505 0.003 308 0% 246 42.7% - - - - - HMMPfam_Ldl_recept_b,HMMSmart_LY,superfamily_SSF63825 ITGA6 3655 genome.wustl.edu 37 2 173349900 173349900 + Missense_Mutation SNP A A G novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_001079818.1 +1 reviewed p.I588V 1.000 140 0% 100 46% - - probably_damaging(0.974) tolerated(0.14) deleterious(0.665) HMMPfam_Integrin_alpha2,superfamily_Integrin domains NFE2L2 4780 genome.wustl.edu 37 2 178097235 178097235 + Missense_Mutation SNP T T C novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_006164.3 -1 validated p.N160S 0.024 106 0% 111 41.4% - - benign(0) tolerated(1) - NULL AGPS 8540 genome.wustl.edu 37 2 178378557 178378557 + Missense_Mutation SNP C C A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_003659.3 +1 reviewed p.L540I 1.000 158 0% 126 43.7% - - benign(0.341) tolerated(0.07) neutral(0.426) HMMPfam_FAD-oxidase_C,superfamily_FAD-linked oxidases C-terminal domain TTN 7273 genome.wustl.edu 37 2 179553408 179553408 + Silent SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df ENST00000356127 -1 known p.H9487 0.490 117 0% 80 26.3% - - - - - NULL TTN 7273 genome.wustl.edu 37 2 179568891 179568891 + Missense_Mutation SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df ENST00000356127 -1 known p.A8825V 1.000 243 0.4% 278 41.4% - - unknown(0) - - HMMSmart_SM00409,HMMPfam_I-set DNAH7 56171 genome.wustl.edu 37 2 196801392 196801392 + Missense_Mutation SNP A A G novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_018897.2 -1 validated p.F1068S 1.000 183 0% 160 46.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DHC_N2 ZDBF2 57683 genome.wustl.edu 37 2 207176130 207176130 + Missense_Mutation SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_020923.1 +1 validated p.R2293Q 0.000 70 0% 56 44.6% - - benign(0) - - NULL PIKFYVE 200576 genome.wustl.edu 37 2 209210845 209210845 + Missense_Mutation SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_015040.3 +1 reviewed p.R1728H 0.906 178 0% 171 45.6% - - possibly_damaging(0.783) tolerated(0.12) deleterious(0.553) NULL ABCA12 26154 genome.wustl.edu 37 2 215851404 215851404 + Missense_Mutation SNP A A C novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_173076.2 -1 reviewed p.L1342R 1.000 146 0% 96 44.8% - - probably_damaging(0.997) deleterious(0.01) deleterious(0.872) NULL ATIC 471 genome.wustl.edu 37 2 216190747 216190747 + Silent SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_004044.6 +1 reviewed p.H139 0.076 182 0% 175 40% - - - - - HMMPfam_AICARFT_IMPCHas,HMMSmart_AICARFT_IMPCHas,superfamily_SSF52335 CNPPD1 27013 genome.wustl.edu 37 2 220037672 220037672 + Missense_Mutation SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_015680.4 -1 validated p.P290L 0.000 60 1.7% 35 80% - - benign(0.304) deleterious(0) deleterious(0.539) NULL SLC16A14 151473 genome.wustl.edu 37 2 230910406 230910406 + Missense_Mutation SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df ENST00000457406 -1 known p.C479Y 0.000 139 0% 82 42.7% - - benign(0.003) - - superfamily_MFS general substrate transporter UGT1A4 54657 genome.wustl.edu 37 2 234676536 234676536 + Silent SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_007120.2 +1 reviewed p.A347 0.000 290 0% 239 45.2% - - - - - HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase KIF1A 547 genome.wustl.edu 37 2 241712601 241712601 + Silent SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df ENST00000428768 -1 known p.R178* 0.075 27 0% 20 60% - - - - - NULL PASK 23178 genome.wustl.edu 37 2 242065780 242065780 + Silent SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_015148.2 -1 validated p.T850 0.000 151 0% 122 45.1% - - - - - NULL RPUSD3 285367 genome.wustl.edu 37 3 9883732 9883732 + Missense_Mutation SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df ENST00000397234 -1 known p.A93T 0.943 273 0% 261 41% - - benign(0.164) - - HMMPfam_PseudoU_synth_2 IQSEC1 9922 genome.wustl.edu 37 3 12978086 12978086 + Missense_Mutation SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_014869.4 -1 validated p.R158C 1.000 19 0% 15 40% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL C3orf19 51244 genome.wustl.edu 37 3 14703076 14703078 + In_Frame_Del DEL AGA AGA - novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 AGA AGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_016474.4 +1 validated p.K117in_frame_del 1.000:1.000:1.000 - - - - - - - - - NULL UBE2E1 7324 genome.wustl.edu 37 3 23929190 23929190 + Silent SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_003341.3 +1 reviewed p.K112 1.000 126 0% 132 40.9% - - - - - HMMPfam_UQ_con,HMMSmart_SM00212,superfamily_UBC-like CMTM8 152189 genome.wustl.edu 37 3 32409410 32409410 + Missense_Mutation SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_178868.3 +1 reviewed p.A123V 0.775 88 0% 56 42.9% - - probably_damaging(0.998) tolerated(0.34) deleterious(0.497) HMMPfam_MARVEL DLEC1 9940 genome.wustl.edu 37 3 38151774 38151774 + Splice_Site SNP T T C novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_007337.2 +1 reviewed e23+2 1.000 116 0% 97 49.5% - - - - - - PRSS50 29122 genome.wustl.edu 37 3 46755831 46755831 + Missense_Mutation SNP T T C novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_013270.4 -1 validated p.K211E 0.915 26 0% 16 50% - - possibly_damaging(0.888) tolerated(0.78) neutral(0.348) HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys IP6K2 51447 genome.wustl.edu 37 3 48725889 48725889 + Silent SNP G G T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_001005909.1 -1 reviewed p.A366 1.000 94 0% 71 39.4% - - - - - HMMPfam_IPK,superfamily_SAICAR synthase-like LAMB2 3913 genome.wustl.edu 37 3 49162869 49162869 + Missense_Mutation SNP G G T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_002292.3 -1 reviewed p.T846N 0.141 37 0% 21 57.1% - - benign(0.013) tolerated(0.58) neutral(0.005) HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,superfamily_SSF57196 MST1R 4486 genome.wustl.edu 37 3 49933522 49933522 + Missense_Mutation SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_002447.2 -1 validated p.V890M 0.996 60 0% 60 50% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL RAD54L2 23132 genome.wustl.edu 37 3 51664852 51664852 + Missense_Mutation SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_015106.2 +1 validated p.A244T 0.997 145 0% 109 41.3% - - benign(0.424) tolerated(0.33) neutral(0.162) superfamily_P-loop containing nucleoside triphosphate hydrolases CACNA1D 776 genome.wustl.edu 37 3 53757968 53757968 + Missense_Mutation SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_000720.2 +1 validated p.T701M 1.000 110 0% 89 50.6% - - probably_damaging(1) tolerated(0.27) deleterious(0.533) HMMPfam_Ion_trans,superfamily_SSF81324 ACOX2 8309 genome.wustl.edu 37 3 58503001 58503001 + Silent SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_003500.3 -1 reviewed p.D594 0.994 83 0% 73 38.4% - - - - - HMMPfam_ACOX,superfamily_AcylCoADH_C_like SHQ1 55164 genome.wustl.edu 37 3 72799476 72799476 + Missense_Mutation SNP T T C novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_018130.2 -1 validated p.N565D 0.000 174 0% 176 26.7% - - benign(0) tolerated(0.11) neutral(0.272) NULL KIAA1524 57650 genome.wustl.edu 37 3 108276167 108276167 + Missense_Mutation SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_020890.2 -1 validated p.A703V 0.999 103 0% 87 42.5% - - benign(0.004) tolerated(0.59) neutral(0.004) NULL PHLDB2 90102 genome.wustl.edu 37 3 111632173 111632173 + Missense_Mutation SNP A A G novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_001134438.1 +1 validated p.Q448R 1.000 689 0% 533 20.8% - - benign(0.323) deleterious(0.02) deleterious(0.484) NULL CASR 846 genome.wustl.edu 37 3 122003529 122003529 + Missense_Mutation SNP C C A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_000388.3 +1 reviewed p.P910T 0.999 77 0% 48 39.6% - - probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL PARP14 54625 genome.wustl.edu 37 3 122446809 122446809 + Missense_Mutation SNP A A G novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_017554.2 +1 validated p.N1698D 1.000 110 0% 113 20.4% - - probably_damaging(0.972) deleterious(0) deleterious(0.859) HMMPfam_PARP,superfamily_ADP-ribosylation ALDH1L1 10840 genome.wustl.edu 37 3 125856723 125856723 + Missense_Mutation SNP T T C novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_012190.2 -1 reviewed p.D386G 1.000 37 0% 25 36% - - benign(0) tolerated(0.07) neutral(0.319) superfamily_ACP_like,superfamily_Aldehyde_DH/Histidinol_DH C3orf56 285311 genome.wustl.edu 37 3 126915977 126915977 + Missense_Mutation SNP C C A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df ENST00000398112 +1 known p.S150Y 0.000 153 0% 98 36.7% - - possibly_damaging(0.449) - - NULL ATP2C1 27032 genome.wustl.edu 37 3 130649288 130649288 + Missense_Mutation SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_001001486.1 +1 reviewed p.G12D 0.998 94 0% 74 41.9% - - benign(0) tolerated(0.57) neutral(0.006) NULL EPHB1 2047 genome.wustl.edu 37 3 134920468 134920468 + Silent SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_004441.4 +1 reviewed p.S761 0.001 434 0% 435 40.5% - - - - - HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) ATR 545 genome.wustl.edu 37 3 142185358 142185358 + Silent SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df ENST00000513291 -1 known p.H82Y 1.000 157 0% 151 25.8% - - - - - NULL GPR87 53836 genome.wustl.edu 37 3 151012462 151012462 + Missense_Mutation SNP T T C novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_023915.3 -1 validated p.D191G 0.998 332 0% 274 24.5% - - benign(0.004) tolerated(0.3) neutral(0.029) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like DCUN1D1 54165 genome.wustl.edu 37 3 182679117 182679117 + Silent SNP G G T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_020640.2 -1 validated p.A139 1.000 697 0% 647 43.6% - - - - - HMMPfam_DUF298 ECE2 9718 genome.wustl.edu 37 3 183976237 183976237 + Silent SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_032331.3 +1 validated p.G214 0.602 49 0% 43 25.6% - - - - - superfamily_SSF53335 ECE2 9718 genome.wustl.edu 37 3 184001759 184001759 + Nonsense_Mutation SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_014693.3 +1 validated p.Q453* 1.000 17 0% 23 47.8% - - - - - "HMMPfam_Peptidase_M13_N,superfamily_Metalloproteases (""zincins"") catalytic domain" TP63 8626 genome.wustl.edu 37 3 189607202 189607202 + Silent SNP C C G rs61752082 TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_003722.4 +1 reviewed p.P527 1.000 143 0% 153 54.9% - - - - - NULL NOP14 8602 genome.wustl.edu 37 4 2956223 2956223 + Silent SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_003703.1 -1 validated p.G180 0.503 70 0% 70 38.6% - - - - - HMMPfam_Nop14 GRK4 2868 genome.wustl.edu 37 4 3015480 3015483 + Frame_Shift_Del DEL AATA AATA - novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 AATA AATA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_182982.2 +1 reviewed p.I223fs 0.988:1.000:1.000:0.979 - - - - - - - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase RAB28 9364 genome.wustl.edu 37 4 13462369 13462369 + Silent SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df ENST00000511649 -1 known p.R38* 0.821 177 0% 248 10.9% - - - - - HMMSmart_SM00173,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases APBB2 323 genome.wustl.edu 37 4 40827978 40827978 + Nonsense_Mutation SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df ENST00000513493 -1 known p.Q118* 1.000 123 0% 102 28.4% - - probably_damaging(1) tolerated(0.18) deleterious(0.556) superfamily_PH domain-like LIMCH1 22998 genome.wustl.edu 37 4 41648508 41648509 + Frame_Shift_Del DEL GA GA - novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 GA GA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_014988.2 +1 validated p.E425fs 0.997:1.000 - - - - - - - - - NULL FRYL 285527 genome.wustl.edu 37 4 48551490 48551490 + Missense_Mutation SNP C C A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_015030.1 -1 validated p.R1595M 1.000 84 0% 78 39.7% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL FRAS1 80144 genome.wustl.edu 37 4 79432436 79432436 + Silent SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df ENST00000512123 +1 known p.Q1492* 0.998 107 0% 93 40.9% - - - - - NULL NAA11 84779 genome.wustl.edu 37 4 80246916 80246916 + Missense_Mutation SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_032693.2 -1 validated p.P39L 1.000 180 0% 170 44.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Acyl_CoA_acyltransferase ATOH1 474 genome.wustl.edu 37 4 94750676 94750676 + Missense_Mutation SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_005172.1 +1 reviewed p.T200I 1.000 69 0% 54 29.6% - - possibly_damaging(0.793) deleterious(0.02) deleterious(0.681) HMMPfam_HLH,HMMSmart_HLH,superfamily_HLH_basic BDH2 56898 genome.wustl.edu 37 4 104003299 104003299 + Missense_Mutation SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_020139.3 -1 validated p.T208M 0.949 87 0% 66 45.5% - - benign(0.162) tolerated(1) neutral(0.015) superfamily_NAD(P)-binding Rossmann-fold domains TRPC3 7222 genome.wustl.edu 37 4 122854043 122854043 + Missense_Mutation SNP T T C novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_001130698.1 -1 validated p.N124D 1.000 95 0% 78 10.3% - - possibly_damaging(0.45) tolerated(1) neutral(0.147) HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK FAT4 79633 genome.wustl.edu 37 4 126238081 126238081 + Missense_Mutation SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_024582.4 +1 validated p.R172H 0.999 53 0% 29 37.9% - - benign(0) tolerated(0.57) neutral(0.006) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like ABCE1 6059 genome.wustl.edu 37 4 146044712 146044712 + Missense_Mutation SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_001040876.1 +1 reviewed p.V534I 1.000 133 0% 91 34.1% - - possibly_damaging(0.693) deleterious(0.03) deleterious(0.613) HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases GUCY1B3 2983 genome.wustl.edu 37 4 156725805 156725805 + Nonsense_Mutation SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_000857.2 +1 validated p.R539* 1.000 191 0% 146 39% - - - - - HMMPfam_Guanylate_cyc,HMMSmart_SM00044,superfamily_Adenylyl and guanylyl cyclase catalytic domain,PatternScan_GUANYLATE_CYCLASE_1 NAF1 92345 genome.wustl.edu 37 4 164050428 164050428 + Missense_Mutation SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_138386.2 -1 validated p.R369H 0.005 105 0% 121 46.3% - - benign(0.001) tolerated(0.69) neutral(0.002) NULL MFAP3L 9848 genome.wustl.edu 37 4 170913337 170913337 + Missense_Mutation SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_021647.6 -1 validated p.R141H 1.000 164 0% 140 44.3% - - probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin AGA 175 genome.wustl.edu 37 4 178358603 178358603 + Missense_Mutation SNP G G T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_000027.3 -1 reviewed p.P193H 0.000 55 0% 48 43.8% - - benign(0.001) tolerated(0.37) neutral(0.019) HMMPfam_Asparaginase_2,superfamily_N-terminal nucleophile aminohydrolases (Ntn hydrolases) FAT1 2195 genome.wustl.edu 37 4 187539894 187539894 + Missense_Mutation SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_005245.3 -1 reviewed p.V2616I 0.037 129 0% 82 32.9% - - benign(0) tolerated(1) - HMMPfam_Cadherin,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like CCDC127 133957 genome.wustl.edu 37 5 205611 205611 + Missense_Mutation SNP G G C novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_145265.2 -1 provisional p.S195C 0.027 67 0% 53 35.8% - - benign(0.163) deleterious(0.05) neutral(0.360) NULL CCDC127 133957 genome.wustl.edu 37 5 205612 205612 + Missense_Mutation SNP A A T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_145265.2 -1 provisional p.S195T 0.020 65 0% 48 39.6% - - benign(0) tolerated(0.54) neutral(0.007) NULL CDH18 1016 genome.wustl.edu 37 5 19483468 19483468 + Missense_Mutation SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df ENST00000506372 -1 known p.R573Q 0.915 102 0% 56 19.6% - - possibly_damaging(0.875) tolerated(0.4) neutral(0.356) NULL DHX29 54505 genome.wustl.edu 37 5 54558480 54558480 + Missense_Mutation SNP C C A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_019030.2 -1 validated p.G1269V 1.000 239 0% 213 26.3% - - probably_damaging(0.995) tolerated(0.07) deleterious(0.776) HMMPfam_DUF1605 ZCCHC9 84240 genome.wustl.edu 37 5 80608438 80608438 + Missense_Mutation SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_001131035.1 +1 validated p.P258L 0.001 171 0% 133 42.1% - - probably_damaging(0.976) tolerated(0.47) neutral(0.429) NULL RFESD 317671 genome.wustl.edu 37 5 94989815 94989816 + Frame_Shift_Ins INS - - TG novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_001131065.1 +1 validated p.V74fs 0.911:0.908 - - - - - - - - - HMMPfam_Rieske,superfamily_ISP domain SLCO6A1 133482 genome.wustl.edu 37 5 101755537 101755537 + Missense_Mutation SNP A A G novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_173488.3 -1 validated p.Y489H 0.577 187 0% 182 48.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_OATP,superfamily_MFS general substrate transporter,superfamily_Kazal-type serine protease inhibitors MAN2A1 4124 genome.wustl.edu 37 5 109049313 109049313 + Silent SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_002372.2 +1 reviewed p.V76 1.000 337 0% 314 42.4% - - - - - NULL MAN2A1 4124 genome.wustl.edu 37 5 109181688 109181688 + Silent SNP G G T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_002372.2 +1 reviewed p.G941 0.167 334 0% 350 38% - - - - - superfamily_Gal_mut_like,HMMPfam_Glyco_hydro_38C WDR36 134430 genome.wustl.edu 37 5 110446514 110446514 + Missense_Mutation SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_139281.2 +1 reviewed p.A546V 1.000 99 0% 48 43.8% - - benign(0.329) tolerated(0.32) neutral(0.127) HMMSmart_WD40,superfamily_WD40_like APC 324 genome.wustl.edu 37 5 112176891 112176892 + In_Frame_Ins INS - - TGA novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_000038.4 +1 reviewed p.1871in_frame_insD 1.000:1.000 - - - - - - - - - NULL SEMA6A 57556 genome.wustl.edu 37 5 115783394 115783394 + Missense_Mutation SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_020796.3 -1 validated p.V670I 1.000 100 0% 61 14.8% - - probably_damaging(0.994) deleterious(0) deleterious(0.897) NULL ZCCHC10 54819 genome.wustl.edu 37 5 132334285 132334287 + In_Frame_Del DEL TTC TTC - novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 TTC TTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_017665.1 -1 provisional p.K170in_frame_del 1.000:1.000:1.000 - - - - - - - - - NULL DDX46 9879 genome.wustl.edu 37 5 134131781 134131781 + Missense_Mutation SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_014829.2 +1 reviewed p.A632V 1.000 157 0% 165 43.6% - - probably_damaging(0.997) deleterious(0) deleterious(0.911) superfamily_SSF52540 H2AFY 9555 genome.wustl.edu 37 5 134686556 134686556 + Silent SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_138609.2 -1 reviewed p.V212 1.000 62 0% 45 42.2% - - - - - HMMSmart_A1pp,superfamily_SSF52949 DNAJC18 202052 genome.wustl.edu 37 5 138755844 138755845 + Frame_Shift_Ins INS - - A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_152686.2 -1 provisional p.D283fs 1.000:1.000 - - - - - - - - - HMMPfam_DUF1977 SRA1 10011 genome.wustl.edu 37 5 139930728 139930728 + Silent SNP T T C novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_001035235.2 -1 reviewed p.R139 1.000 184 0% 120 48.3% - - - - - HMMPfam_SRA1 PCDHA2 56146 genome.wustl.edu 37 5 140174689 140174689 + Missense_Mutation SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_018905.2 +1 reviewed p.R47H 0.972 103 0% 76 23.7% - - possibly_damaging(0.907) deleterious(0.01) deleterious(0.766) HMMSmart_SM00112,HMMPfam_Cadherin_2,superfamily_Cadherin-like PCDHA2 56146 genome.wustl.edu 37 5 140176058 140176058 + Silent SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_018905.2 +1 reviewed p.A503 0.047 60 0% 32 62.5% - - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like ENSG00000249608 0 genome.wustl.edu 37 5 140180596 140180596 + RNA SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df ENST00000512753 -1 known NULL 1.000 20 0% 16 31.2% - - - - - - PCDHB14 56122 genome.wustl.edu 37 5 140604308 140604309 + Frame_Shift_Del DEL AG AG - novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_018934.2 +1 reviewed p.S413fs 1.000:1.000 - - - - - - - - - HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHGB1 56104 genome.wustl.edu 37 5 140730606 140730606 + Missense_Mutation SNP G G T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_018922.2 +1 reviewed p.R260L 0.000 179 0% 199 45.7% - - benign(0.053) tolerated(0.31) neutral(0.030) HMMPfam_Cadherin,superfamily_Cadherin-like PCDHGB7 56099 genome.wustl.edu 37 5 140798773 140798773 + Silent SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_018927.2 +1 reviewed p.A449 0.000 99 0% 89 42.7% - - - - - HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like SPRY4 81848 genome.wustl.edu 37 5 141694467 141694467 + Silent SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_030964.3 -1 validated p.G92 0.005 28 0% 27 48.1% - - - - - NULL SYNPO 11346 genome.wustl.edu 37 5 150029506 150029506 + Missense_Mutation SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_007286.5 +1 validated p.P557S 0.996 102 0% 79 51.9% - - possibly_damaging(0.837) deleterious(0.02) deleterious(0.703) NULL LARP1 23367 genome.wustl.edu 37 5 154092583 154092583 + Missense_Mutation SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_015315.3 +1 validated p.P33L 0.991 66 0% 55 38.2% - - unknown(0) - - NULL GPRIN1 114787 genome.wustl.edu 37 5 176026677 176026677 + Silent SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_052899.2 -1 validated p.S53 0.972 39 0% 15 40% - - - - - NULL HK3 3101 genome.wustl.edu 37 5 176316551 176316551 + Missense_Mutation SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_002115.2 -1 reviewed p.A249T 0.464 52 0% 42 26.2% - - probably_damaging(0.978) deleterious(0) deleterious(0.865) HMMPfam_Hexokinase_2,superfamily_SSF53067 RMND5B 64777 genome.wustl.edu 37 5 177569912 177569912 + Silent SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_022762.3 +1 provisional p.Q115 1.000 82 0% 82 34.1% - - - - - NULL ZNF454 285676 genome.wustl.edu 37 5 178391816 178391816 + Silent SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_182594.2 +1 validated p.L137 0.099 121 0% 98 42.9% - - - - - NULL BTNL8 79908 genome.wustl.edu 37 5 180338412 180338412 + Silent SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_001040462.2 +1 validated p.S157 0.000 398 0% 411 47.4% - - - - - HMMSmart_SM00409,superfamily_Immunoglobulin C6orf195 154386 genome.wustl.edu 37 6 2623874 2623874 + Silent SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_152554.2 -1 validated p.P61 0.001 101 0% 71 42.3% - - - - - NULL TXNDC5 81567 genome.wustl.edu 37 6 7891946 7891946 + Missense_Mutation SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_030810.2 -1 reviewed p.A214T 1.000 43 0% 30 40% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Thiordxn-like_fd,HMMPfam_Thioredoxin,PatternScan_THIOREDOXIN_1 CDKAL1 54901 genome.wustl.edu 37 6 20955656 20955656 + Missense_Mutation SNP T T C novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_017774.3 +1 reviewed p.V250A 1.000 235 0% 170 44.7% - - possibly_damaging(0.929) deleterious(0) deleterious(0.821) HMMSmart_SM00729,HMMPfam_Radical_SAM,superfamily_Radical SAM enzymes ZNF391 346157 genome.wustl.edu 37 6 27368241 27368241 + Missense_Mutation SNP C C A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_001076781.1 +1 validated p.P31H 0.000 371 0% 315 42.5% - - benign(0.282) deleterious(0.01) deleterious(0.492) NULL TRIM26 7726 genome.wustl.edu 37 6 30154271 30154271 + Silent SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_003449.3 -1 validated p.C334 0.003 135 0% 88 37.5% - - - - - HMMSmart_SM00589 TRIM26 7726 genome.wustl.edu 37 6 30166570 30166570 + Missense_Mutation SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_003449.3 -1 validated p.R104Q 0.542 100 0% 65 49.2% - - possibly_damaging(0.67) tolerated(0.98) neutral(0.237) HMMPfam_zf-B_box,HMMSmart_SM00336,superfamily_RING/U-box MICB 4277 genome.wustl.edu 37 6 31474964 31474964 + Missense_Mutation SNP G G T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_005931.3 +1 reviewed p.G260V 0.001 78 0% 81 43.2% - - possibly_damaging(0.593) deleterious(0) deleterious(0.649) HMMPfam_C1-set,HMMSmart_SM00407,superfamily_Immunoglobulin LTA 4049 genome.wustl.edu 37 6 31541368 31541368 + Silent SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_000595.2 +1 reviewed p.A172 0.999 193 0% 143 28% - - - - - HMMPfam_TNF,HMMSmart_SM00207,superfamily_TNF-like RNF5 6048 genome.wustl.edu 37 6 32147867 32147867 + Missense_Mutation SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_006913.3 +1 reviewed p.V137I 1.000 265 0% 241 47.3% - - benign(0.202) tolerated(0.38) neutral(0.037) NULL NOTCH4 4855 genome.wustl.edu 37 6 32169209 32169209 + Missense_Mutation SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_004557.3 -1 reviewed p.A1275V 0.401 73 0% 60 46.7% - - probably_damaging(0.99) tolerated(0.19) deleterious(0.491) HMMPfam_Notch,HMMSmart_SM00004,superfamily_Notch domain COL11A2 1302 genome.wustl.edu 37 6 33139828 33139828 + Missense_Mutation SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_080680.2 -1 reviewed p.A1014V 1.000 118 0% 66 36.4% - - benign(0.02) tolerated(0.41) neutral(0.016) HMMPfam_Collagen ANKS1A 23294 genome.wustl.edu 37 6 34949600 34949600 + Missense_Mutation SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_015245.2 +1 validated p.A190V 1.000 99 0% 109 45.9% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK FTSJD2 23070 genome.wustl.edu 37 6 37427378 37427378 + Missense_Mutation SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_015050.2 +1 validated p.R338H 1.000 430 0% 411 46.5% - - probably_damaging(0.997) tolerated(0.23) deleterious(0.508) HMMPfam_FtsJ,superfamily_S-adenosyl-L-methionine-dependent methyltransferases UBR2 23304 genome.wustl.edu 37 6 42626481 42626481 + Missense_Mutation SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_015255.2 +1 reviewed p.R1054Q 1.000 186 0.5% 164 43.9% - - benign(0.137) tolerated(0.12) neutral(0.272) NULL TTBK1 84630 genome.wustl.edu 37 6 43250681 43250683 + In_Frame_Del DEL GAG GAG - novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 GAG GAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_032538.1 +1 validated p.E738in_frame_del 0.981:0.982:0.976 - - - - - - - - - NULL ABCC10 89845 genome.wustl.edu 37 6 43410878 43410878 + Silent SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_033450.2 +1 reviewed p.A771 0.016 35 0% 25 44% - - - - - HMMPfam_ABC_tran,HMMSmart_AAA,superfamily_SSF52540 GPR116 221395 genome.wustl.edu 37 6 46849843 46849843 + Missense_Mutation SNP A A G novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_001098518.1 -1 validated p.F205S 0.999 210 0% 137 43.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SEA,superfamily_SEA domain EFHC1 114327 genome.wustl.edu 37 6 52329834 52329834 + Missense_Mutation SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_018100.3 +1 reviewed p.R353Q 0.621 104 0% 65 47.7% - - benign(0.002) tolerated(0.51) neutral(0.009) HMMSmart_SM00676 PHIP 55023 genome.wustl.edu 37 6 79713458 79713458 + Missense_Mutation SNP T T C novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_017934.5 -1 validated p.K548E 1.000 123 0% 93 43% - - possibly_damaging(0.892) tolerated(0.25) neutral(0.388) NULL MANEA 79694 genome.wustl.edu 37 6 96034869 96034870 + Frame_Shift_Ins INS - - TA novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df ENST00000369293 +1 known p.I189fs 0.020:0.026 - - - - - - - - - NULL ASCC3 10973 genome.wustl.edu 37 6 101110257 101110257 + Missense_Mutation SNP C C A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_006828.2 -1 validated p.W814C 1.000 127 0% 66 51.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Helicase_C,HMMSmart_HELICc,superfamily_SSF52540 TUBE1 51175 genome.wustl.edu 37 6 112400950 112400950 + Missense_Mutation SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_016262.4 -1 reviewed p.G112S 1.000 175 0% 127 49.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Tubulin,superfamily_Tubulin nucleotide-binding domain-like ASF1A 25842 genome.wustl.edu 37 6 119222020 119222020 + Missense_Mutation SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_014034.2 +1 reviewed p.A67T 1.000 168 0% 129 45% - - benign(0.003) tolerated(0.09) neutral(0.296) HMMPfam_ASF1_hist_chap,superfamily_ASF1-like TCP1 6950 genome.wustl.edu 37 6 160200260 160200260 + Silent SNP T T C novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_030752.2 -1 reviewed p.R496 0.995 201 0% 222 43.7% - - - - - HMMPfam_Cpn60_TCP1,superfamily_GroEL-ATPase IGF2R 3482 genome.wustl.edu 37 6 160500795 160500795 + Missense_Mutation SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_000876.2 +1 reviewed p.V1888M 0.001 96 0% 65 52.3% - - benign(0) tolerated(0.3) neutral(0.029) HMMPfam_CIMR,superfamily_Mannose 6-phosphate receptor domain PDCD2 5134 genome.wustl.edu 37 6 170889100 170889100 + Missense_Mutation SNP T T C novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_002598.2 -1 reviewed p.E251G 1.000 70 0% 60 48.3% - - probably_damaging(0.98) tolerated(0.22) neutral(0.466) HMMPfam_PDCD2_C INTS1 26173 genome.wustl.edu 37 7 1542643 1542643 + Silent SNP G G T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_001080453.2 -1 validated p.S81 1.000 28 0% 28 50% - - - - - NULL SDK1 221935 genome.wustl.edu 37 7 3998631 3998631 + Missense_Mutation SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_152744.3 +1 validated p.G407R 0.002 93 0% 78 42.3% - - benign(0.067) tolerated(0.16) neutral(0.064) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin SDK1 221935 genome.wustl.edu 37 7 4008892 4008892 + Missense_Mutation SNP A A G novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_152744.3 +1 validated p.N517S 0.000 325 0% 287 41.1% - - benign(0) tolerated(0.4) neutral(0.016) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin KIAA0415 9907 genome.wustl.edu 37 7 4824679 4824679 + Nonsense_Mutation SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_014855.1 +1 validated p.R311* 0.938 12 0% 29 24.1% - - - - - NULL RNF216P1 441191 genome.wustl.edu 37 7 5024662 5024662 + Missense_Mutation SNP T T C novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df ENST00000360944 +1 known p.W14R 1.000 131 0% 126 43.7% - - - - - NULL AHR 196 genome.wustl.edu 37 7 17379836 17379836 + Missense_Mutation SNP A A C novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_001621.4 +1 validated p.Q796P 0.014 199 0% 142 24.6% - - possibly_damaging(0.582) deleterious(0.01) deleterious(0.606) NULL FERD3L 222894 genome.wustl.edu 37 7 19184766 19184766 + Missense_Mutation SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_152898.2 -1 validated p.G74R 0.001 81 0% 87 42.5% - - benign(0.02) tolerated(0.05) neutral(0.346) NULL ZNRF2 223082 genome.wustl.edu 37 7 30402025 30402025 + Missense_Mutation SNP C C A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_147128.3 +1 validated p.S235Y 1.000 84 0% 70 22.9% - - probably_damaging(0.953) deleterious(0.01) deleterious(0.802) HMMSmart_RING,HMMPfam_zf-C3HC4,superfamily_SSF57850 C7orf25 79020 genome.wustl.edu 37 7 42950303 42950303 + Missense_Mutation SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_001099858.1 -1 validated p.S124N 1.000 257 0% 189 38.1% - - probably_damaging(1) tolerated(0.06) deleterious(0.823) HMMPfam_DUF1308 TNS3 64759 genome.wustl.edu 37 7 47408788 47408788 + Silent SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_022748.10 -1 validated p.H485 0.003 58 0% 38 65.8% - - - - - NULL LANCL2 55915 genome.wustl.edu 37 7 55468987 55468987 + Missense_Mutation SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_018697.3 +1 validated p.A267T 1.000 138 0% 86 47.7% - - benign(0.002) deleterious(0.01) neutral(0.406) HMMPfam_LANC_like FZD9 8326 genome.wustl.edu 37 7 72849163 72849163 + Missense_Mutation SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_003508.2 +1 reviewed p.V276I 1.000 47 0% 21 47.6% - - benign(0.008) tolerated(0.51) neutral(0.009) HMMPfam_Frizzled DYNC1I1 1780 genome.wustl.edu 37 7 95442514 95442514 + Missense_Mutation SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_004411.4 +1 validated p.P77L 0.999 241 0% 168 51.2% - - benign(0.059) deleterious(0) neutral(0.449) superfamily_WD40 repeat-like ZKSCAN5 23660 genome.wustl.edu 37 7 99123844 99123844 + Missense_Mutation SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_014569.3 +1 reviewed p.R394H 0.849 313 0% 330 47.3% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers TAF6 6878 genome.wustl.edu 37 7 99708842 99708842 + Missense_Mutation SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_005641.2 -1 reviewed p.R335C 1.000 83 0% 70 51.4% - - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_DUF1546 CAPZA2 830 genome.wustl.edu 37 7 116557838 116557838 + Silent SNP C C A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_006136.2 +1 reviewed p.R260 1.000 134 0% 100 49% - - - - - PatternScan_F_ACTIN_CAPPING_A_2,HMMPfam_F-actin_cap_A,superfamily_Subunits of heterodimeric actin filament capping protein Capz FAM40B 57464 genome.wustl.edu 37 7 129091551 129091551 + Silent SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_020704.2 +1 validated p.R124 0.997 43 0% 29 55.2% - - - - - HMMPfam_N1221 EPHA1 2041 genome.wustl.edu 37 7 143094700 143094700 + Silent SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_005232.4 -1 reviewed p.L556 0.956 39 0% 38 18.4% - - - - - NULL RBM33 155435 genome.wustl.edu 37 7 155559268 155559268 + Silent SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df ENST00000392761 +1 known p.A871V 0.919 15 0.000 9 0.444 - - - - - NULL NCAPG2 54892 genome.wustl.edu 37 7 158473474 158473474 + Missense_Mutation SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_017760.5 -1 validated p.R320Q 0.831 93 0% 94 55.3% - - probably_damaging(1) tolerated(0.34) deleterious(0.523) superfamily_ARM repeat XKR6 286046 genome.wustl.edu 37 8 10755724 10755724 + Missense_Mutation SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_173683.3 -1 provisional p.T555M 1.000 131 0% 75 42.7% - - possibly_damaging(0.951) tolerated(0.11) deleterious(0.665) NULL USP17L7 392197 genome.wustl.edu 37 8 11990851 11990851 + Missense_Mutation SNP A A T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df ENST00000416902 -1 known p.I223N 0.946 300 0% 206 24.3% - - - - - HMMPfam_UCH,superfamily_SSF54001 LONRF1 91694 genome.wustl.edu 37 8 12594517 12594517 + Missense_Mutation SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_152271.3 -1 provisional p.V416I 1.000 163 0% 125 44.8% - - benign(0.001) tolerated(0.4) neutral(0.016) NULL ADRA1A 148 genome.wustl.edu 37 8 26627858 26627858 + Missense_Mutation SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_033303.3 -1 reviewed p.M403I 0.606 476 0% 366 43.7% - - benign(0) tolerated(0.22) neutral(0.042) NULL AGPAT6 137964 genome.wustl.edu 37 8 41476277 41476277 + Missense_Mutation SNP G G T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_178819.3 +1 validated p.M376I 1.000 101 0% 127 43.3% - - possibly_damaging(0.676) deleterious(0.04) deleterious(0.589) NULL ENSG00000215179 0 genome.wustl.edu 37 8 47885722 47885722 + Missense_Mutation SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df ENST00000399732 -1 known p.R171W 1.000 122 0% 121 40.5% - - - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase DCAF4L2 138009 genome.wustl.edu 37 8 88885123 88885123 + Silent SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_152418.3 -1 validated p.S359 0.072 99 0% 80 48.7% - - - - - superfamily_WD40_like SLC30A8 169026 genome.wustl.edu 37 8 118184781 118184781 + Missense_Mutation SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_173851.2 +1 reviewed p.S324N 0.963 242 0% 202 45.5% - - benign(0) tolerated(1) - HMMPfam_Cation_efflux KCNV2 169522 genome.wustl.edu 37 9 2718833 2718833 + Missense_Mutation SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_133497.2 +1 reviewed p.T365M 0.990 64 0% 50 46% - - probably_damaging(0.994) deleterious(0.01) deleterious(0.858) HMMPfam_Ion_trans,superfamily_SSF81324 LURAP1L 286343 genome.wustl.edu 37 9 12821569 12821569 + Missense_Mutation SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_203403.1 +1 validated p.S166N 1.000 309 0% 275 42.2% - - probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL RRAGA 10670 genome.wustl.edu 37 9 19050047 19050047 + Missense_Mutation SNP T T A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_006570.4 +1 validated p.D130E 1.000 131 0% 84 35.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Gtr1_RagA,superfamily_P-loop containing nucleoside triphosphate hydrolases TAF1L 138474 genome.wustl.edu 37 9 32630491 32630491 + Missense_Mutation SNP G G T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_153809.2 -1 provisional p.S1696Y 0.999 471 0% 378 42.1% - - benign(0.025) deleterious(0.02) neutral(0.384) NULL LOC389722 389722 genome.wustl.edu 37 9 43800999 43800999 + Missense_Mutation SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df XM_002342910.1 +1 model p.G176R 1.000 525 0% 454 22.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00231,PatternScan_FA58C_2,superfamily_Galactose-binding domain-like,superfamily_Concanavalin A-like lectins/glucanases TJP2 9414 genome.wustl.edu 37 9 71833275 71833275 + Missense_Mutation SNP T T G novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_004817.3 +1 reviewed p.I114M 0.975 43 0% 50 52% - - possibly_damaging(0.658) deleterious(0) deleterious(0.677) HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like FAM189A2 9413 genome.wustl.edu 37 9 72003183 72003183 + Silent SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_001127608.1 +1 validated p.P322 0.000 75 0% 66 43.9% - - - - - NULL CDK20 23552 genome.wustl.edu 37 9 90588879 90588879 + Silent SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_001039803.2 -1 reviewed p.L49 1.000 143 0% 140 48.6% - - - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase MSANTD3 91283 genome.wustl.edu 37 9 103204503 103204503 + Missense_Mutation SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_080655.1 +1 predicted p.R95W 0.976 76 0% 68 14.7% - - probably_damaging(0.997) deleterious(0.03) deleterious(0.831) NULL SVEP1 79987 genome.wustl.edu 37 9 113173557 113173557 + Missense_Mutation SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_153366.3 -1 validated p.R2145Q 1.000 116 0% 86 40.7% - - probably_damaging(0.997) tolerated(0.62) deleterious(0.470) superfamily_Complement control module/SCR domain SVEP1 79987 genome.wustl.edu 37 9 113242017 113242017 + Silent SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_153366.3 -1 validated p.H795 0.997 370 0% 270 49.3% - - - - - NULL KCNT1 57582 genome.wustl.edu 37 9 138679947 138679947 + Missense_Mutation SNP G G T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_020822.2 +1 validated p.E1168D 1.000 20 0% 14 78.6% - - benign(0.001) tolerated(0.85) neutral(0.001) NULL DIP2C 22982 genome.wustl.edu 37 10 428644 428644 + Missense_Mutation SNP T T C novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_014974.2 -1 reviewed p.Q645R 1.000 29 0% 18 61.1% - - benign(0) tolerated(0.07) neutral(0.319) superfamily_SSF56801 WDR37 22884 genome.wustl.edu 37 10 1175180 1175180 + Missense_Mutation SNP G G A rs71491341 byCluster;byFrequency TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_014023.3 +1 reviewed p.A461T 1.000 106 0% 86 52.3% - - benign(0.004) deleterious(0.02) neutral(0.383) HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40 PFKP 5214 genome.wustl.edu 37 10 3155616 3155616 + Missense_Mutation SNP A A G novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_002627.3 +1 validated p.N426S 1.000 20 0% 13 46.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PFK,superfamily_Phosphofructokinase FAM208B 54906 genome.wustl.edu 37 10 5789627 5789627 + Nonsense_Mutation SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_017782.4 +1 validated p.R1415* 0.551 295 0% 205 43.4% - - - - - NULL FRMD4A 55691 genome.wustl.edu 37 10 13708280 13708280 + Missense_Mutation SNP G G T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_018027.3 -1 validated p.Q474K 1.000 59 0% 42 52.4% - - possibly_damaging(0.891) tolerated(1) neutral(0.350) NULL FAM188A 80013 genome.wustl.edu 37 10 15883521 15883521 + Missense_Mutation SNP A A G novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_024948.2 -1 validated p.Y105H 0.987 224 0% 178 46.6% - - probably_damaging(0.989) deleterious(0.04) deleterious(0.788) NULL CUBN 8029 genome.wustl.edu 37 10 17171235 17171235 + Missense_Mutation SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_001081.3 -1 reviewed p.T46I 0.991 120 0% 69 52.2% - - benign(0.429) deleterious(0.02) deleterious(0.522) NULL MAP3K8 1326 genome.wustl.edu 37 10 30749641 30749641 + Missense_Mutation SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_005204.2 +1 reviewed p.S427L 1.000 109 0% 95 53.7% - - probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL ZNF37A 7587 genome.wustl.edu 37 10 38407630 38407630 + Silent SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_001007094.2 +1 validated p.H517 1.000 200 0% 130 39.2% - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers RET 5979 genome.wustl.edu 37 10 43613825 43613825 + Silent SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_020975.4 +1 reviewed p.N763 0.917 26 0% 21 28.6% - - - - - HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like PCDH15 65217 genome.wustl.edu 37 10 55568712 55568712 + Nonsense_Mutation SNP C C A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_001142769.1 -1 reviewed p.E1705* 0.610 54 0% 38 55.3% - - - - - NULL CDH23 64072 genome.wustl.edu 37 10 73330675 73330675 + Silent SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_022124.5 +1 reviewed p.P251 1.000 69 1.4% 44 52.3% - - - - - HMMPfam_Cadherin,superfamily_Cadherin-like NRG3 10718 genome.wustl.edu 37 10 84738771 84738771 + Missense_Mutation SNP G G T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_001010848.3 +1 reviewed p.R493M 1.000 73 0% 61 16.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL PTEN 5728 genome.wustl.edu 37 10 89720799 89720802 + Frame_Shift_Del DEL TACT TACT - novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 TACT TACT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df ENST00000371953 +1 known p.T319fs 1.000:1.000:1.000:1.000 - - - - - - - - - superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_PTEN_C2 HPSE2 60495 genome.wustl.edu 37 10 100503648 100503648 + Missense_Mutation SNP A A C novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_021828.4 -1 reviewed p.L259R 1.000 213 0% 164 43.3% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Glyco_hydro_79n ADD3 120 genome.wustl.edu 37 10 111885645 111885645 + Missense_Mutation SNP C C A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_016824.3 +1 reviewed p.P488Q 1.000 169 0% 155 41.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL FGFR2 2263 genome.wustl.edu 37 10 123297911 123297911 + Silent SNP T T C novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df ENST00000359354 -1 known p.L254 0.000 126 0% 86 41.9% - - - - - NULL MKI67 4288 genome.wustl.edu 37 10 129902203 129902204 + Frame_Shift_Ins INS - - TG novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_002417.4 -1 reviewed p.K2634fs 0.000:0.000 - - - - - - - - - HMMPfam_K167R MUC5B 727897 genome.wustl.edu 37 11 1265596 1265596 + Missense_Mutation SNP G G C novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_002458.1 +1 validated p.V2499L 0.000 94 1.1% 100 30% - - benign(0.004) - - NULL OR51E2 81285 genome.wustl.edu 37 11 4702995 4702995 + Missense_Mutation SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_030774.3 -1 validated p.A316V 0.787 207 0% 176 41.5% - - benign(0) deleterious(0.03) neutral(0.364) NULL GTF2H1 2965 genome.wustl.edu 37 11 18373429 18373429 + Missense_Mutation SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_001142307.1 +1 validated p.A352V 0.993 199 0% 199 37.7% - - benign(0) tolerated(1) - NULL ZDHHC13 54503 genome.wustl.edu 37 11 19164648 19164649 + Frame_Shift_Del DEL TG TG - novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 TG TG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_019028.2 +1 validated p.C51fs 1.000:1.000 - - - - - - - - - superfamily_Ankyrin repeat CRY2 1408 genome.wustl.edu 37 11 45880392 45880392 + Silent SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_021117.3 +1 validated p.T166 0.000 46 0% 56 41.1% - - - - - HMMPfam_DNA_photolyase,superfamily_DNA_photolyase_N F2 2147 genome.wustl.edu 37 11 46747499 46747499 + Missense_Mutation SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_000506.3 +1 reviewed p.R217Q 0.008 36 0% 26 42.3% - - possibly_damaging(0.91) tolerated(0.67) neutral(0.365) HMMPfam_Kringle,HMMSmart_KR,superfamily_Kringle-like C11orf49 79096 genome.wustl.edu 37 11 47183180 47183180 + Silent SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_001003677.1 +1 validated p.S335 0.257 67 0% 28 57.1% - - - - - NULL MYBPC3 4607 genome.wustl.edu 37 11 47372916 47372916 + Missense_Mutation SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_000256.3 -1 reviewed p.G56S 0.000 9 0.000 7 0.714 - - benign(0) tolerated(0.94) - HMMSmart_IG,HMMPfam_I-set,superfamily_SSF48726 GLYATL1 92292 genome.wustl.edu 37 11 58723411 58723411 + Missense_Mutation SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_080661.2 +1 provisional p.R305C 0.000 292 0% 223 43.9% - - possibly_damaging(0.736) deleterious(0.03) deleterious(0.633) HMMPfam_Gly_acyl_tr_C,superfamily_Acyl_CoA_acyltransferase LRP5 4041 genome.wustl.edu 37 11 68177394 68177394 + Missense_Mutation SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_002335.2 +1 reviewed p.A702T 1.000 29 0% 13 76.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ldl_recept_b,HMMSmart_SM00135,superfamily_YWTD domain PLEKHB1 58473 genome.wustl.edu 37 11 73362899 73362899 + Missense_Mutation SNP G G A rs184116184 by1000genomes TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_021200.2 +1 validated p.R105H 0.998 26 0% 10 40% - - possibly_damaging(0.768) tolerated(0.07) deleterious(0.604) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like SLCO2B1 11309 genome.wustl.edu 37 11 74883517 74883517 + Missense_Mutation SNP T T C novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_007256.3 +1 validated p.I292T 0.199 54 0% 44 43.2% - - benign(0.147) deleterious(0.01) neutral(0.419) HMMPfam_OATP,superfamily_MFS general substrate transporter USP35 57558 genome.wustl.edu 37 11 77921488 77921488 + Missense_Mutation SNP T T C novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_020798.2 +1 provisional p.Y863H 1.000 260 0% 191 33% - - unknown(0) deleterious(0) - HMMPfam_UCH,PatternScan_UCH_2_2,superfamily_Cysteine proteinases CHORDC1 26973 genome.wustl.edu 37 11 89936500 89936500 + Silent SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_012124.2 -1 validated p.S255 1.000 150 0% 159 36.5% - - - - - superfamily_HSP20-like chaperones,HMMPfam_CS PANX1 24145 genome.wustl.edu 37 11 93913085 93913085 + Missense_Mutation SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_015368.3 +1 reviewed p.A288V 0.000 280 0% 185 40.5% - - benign(0) tolerated(1) - NULL MTMR2 8898 genome.wustl.edu 37 11 95578271 95578271 + Missense_Mutation SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_016156.5 -1 reviewed p.T411M 1.000 239 0% 184 49.5% - - possibly_damaging(0.86) tolerated(0.08) deleterious(0.633) superfamily_SSF52799 CASP5 838 genome.wustl.edu 37 11 104869612 104869612 + Missense_Mutation SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_001136112.1 -1 reviewed p.H379Y 0.997 314 0.3% 336 46.4% - - benign(0.01) deleterious(0.04) neutral(0.349) HMMPfam_Peptidase_C14,HMMSmart_SM00115,superfamily_Caspase-like C11orf88 399949 genome.wustl.edu 37 11 111386782 111386782 + Missense_Mutation SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_207430.2 +1 validated p.A96T 0.002 230 0% 184 43.5% - - benign(0.094) tolerated(0.07) neutral(0.326) NULL PCSK7 9159 genome.wustl.edu 37 11 117094803 117094803 + Missense_Mutation SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_004716.2 -1 reviewed p.V349I 0.978 60 0% 46 37% - - benign(0.159) tolerated(0.92) neutral(0.014) HMMPfam_Peptidase_S8,superfamily_Pept_S8_S53 C11orf63 79864 genome.wustl.edu 37 11 122756667 122756667 + Missense_Mutation SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_024806.2 +1 validated p.R37Q 0.045 145 0% 85 41.2% - - benign(0.08) tolerated(0.08) neutral(0.305) NULL OR8B8 26493 genome.wustl.edu 37 11 124310810 124310810 + Missense_Mutation SNP G G T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_012378.1 -1 provisional p.P58T 1.000 364 0% 348 39.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like COPS7A 50813 genome.wustl.edu 37 12 6838538 6838538 + Missense_Mutation SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df ENST00000455113 +1 known p.G68D 1.000 91 0% 92 30.4% - - - - - NULL CD163L1 283316 genome.wustl.edu 37 12 7521563 7521564 + Splice_Site INS - - GA novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_174941.4 -1 reviewed e16-2 0.067:0.055 - - - - - - - - - - GRIN2B 2904 genome.wustl.edu 37 12 13769446 13769446 + Missense_Mutation SNP G G T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_000834.3 -1 reviewed p.P424H 1.000 206 0% 143 42% - - probably_damaging(1) tolerated(0.06) deleterious(0.823) superfamily_SSF53850 OVOS2 144203 genome.wustl.edu 37 12 31331769 31331769 + Missense_Mutation SNP A A G novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df XM_002343151.1 -1 model p.Y137H 0.339 21 0% 25 52% - - - - - HMMPfam_A2M_N MLL2 8085 genome.wustl.edu 37 12 49435458 49435458 + Missense_Mutation SNP G G T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_003482.3 -1 validated p.R2072S 1.000 34 0% 45 37.8% - - unknown(0) - - HMMPfam_HMG_box,HMMSmart_SM00398,superfamily_HMG-box SLC11A2 4891 genome.wustl.edu 37 12 51384607 51384607 + Missense_Mutation SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_000617.2 -1 reviewed p.V516M 0.942 212 0% 173 37% - - possibly_damaging(0.612) tolerated(0.06) deleterious(0.534) NULL ESPL1 9700 genome.wustl.edu 37 12 53680492 53680492 + Silent SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_012291.4 +1 validated p.A1324 0.202 124 0% 43 48.8% - - - - - NULL ITGA7 3679 genome.wustl.edu 37 12 56092631 56092631 + Silent SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_001144996.1 -1 reviewed p.R291 1.000 38 0% 22 22.7% - - - - - HMMSmart_SM00191,superfamily_Integrin alpha N-terminal domain PAN2 9924 genome.wustl.edu 37 12 56722080 56722080 + Missense_Mutation SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_001127460.2 -1 reviewed p.G172D 1.000 176 0% 179 14% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_WD40 repeat-like MYO1A 4640 genome.wustl.edu 37 12 57424001 57424001 + Missense_Mutation SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_005379.2 -1 reviewed p.P862S 1.000 90 0% 82 41.5% - - benign(0.043) tolerated(0.07) neutral(0.322) HMMPfam_Myosin_TH1 CDK4 1019 genome.wustl.edu 37 12 58144707 58144707 + Missense_Mutation SNP A A C novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_000075.2 -1 reviewed p.V174G 1.000 208 0% 253 47% - - benign(0.001) tolerated(0.24) neutral(0.037) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase LYZ 4069 genome.wustl.edu 37 12 69746970 69746970 + Missense_Mutation SNP C C A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_000239.2 +1 reviewed p.R140S 0.000 213 0% 196 39.3% - - benign(0) tolerated(1) - HMMPfam_Lys,HMMSmart_SM00263,superfamily_Lysozyme-like LGR5 8549 genome.wustl.edu 37 12 71978306 71978306 + Missense_Mutation SNP A A G novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_003667.2 +1 provisional p.Y839C 0.001 329 0% 255 47.1% - - benign(0.11) tolerated(0.17) neutral(0.068) superfamily_Family A G protein-coupled receptor-like CAPS2 84698 genome.wustl.edu 37 12 75683399 75683399 + Splice_Site SNP A A G novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_032606.3 -1 validated e15+2 0.998 117 0% 103 39.8% - - - - - - OTOGL 283310 genome.wustl.edu 37 12 80613571 80613574 + Frame_Shift_Del DEL TTTT TTTT - novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 TTTT TTTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df XM_002343203.1 +1 model p.F15fs 0.783:0.235:0.100:0.000 - - - - - - - - - NULL CCDC59 29080 genome.wustl.edu 37 12 82746932 82746932 + Nonstop_Mutation SNP A A G novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_014167.4 -1 validated p.*242Q 0.072 155 0% 135 43.7% - - - - - NULL APPL2 55198 genome.wustl.edu 37 12 105570685 105570685 + Missense_Mutation SNP T T C novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_018171.3 -1 validated p.Y594C 0.918 355 0% 240 47.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF50729 UNG 7374 genome.wustl.edu 37 12 109547637 109547637 + Missense_Mutation SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_080911.1 +1 reviewed p.R269W 1.000 169 0% 84 35.7% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_UDG,superfamily_DNA glycosylase RASAL1 8437 genome.wustl.edu 37 12 113553048 113553048 + Missense_Mutation SNP C C T rs185010862 by1000genomes TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_004658.1 -1 reviewed p.R342H 1.000 67 1.5% 57 29.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RasGAP,HMMSmart_SM00323,superfamily_GTPase activation domain GAP MED13L 23389 genome.wustl.edu 37 12 116434368 116434368 + Missense_Mutation SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_015335.3 -1 validated p.C970Y 1.000 147 0.7% 110 43.6% - - probably_damaging(0.995) deleterious(0.01) deleterious(0.863) NULL RFC5 5985 genome.wustl.edu 37 12 118464694 118464694 + Missense_Mutation SNP A A T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_007370.4 +1 reviewed p.S222C 1.000 254 0% 208 54.3% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) superfamily_SSF52540 TAOK3 51347 genome.wustl.edu 37 12 118677078 118677078 + Splice_Site SNP C C G novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_016281.3 -1 validated e4-1 1.000 56 0% 45 42.2% - - - - - - HSPB8 26353 genome.wustl.edu 37 12 119617303 119617303 + Silent SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_014365.2 +1 reviewed p.G62 0.807 110 0% 55 45.5% - - - - - superfamily_HSP20-like chaperones VPS33A 65082 genome.wustl.edu 37 12 122745927 122745927 + Missense_Mutation SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_022916.4 -1 validated p.E122K 1.000 163 0% 188 39.4% - - benign(0.241) tolerated(0.07) neutral(0.344) HMMPfam_Sec1,superfamily_Sec1-like DNAH10 196385 genome.wustl.edu 37 12 124311345 124311345 + Missense_Mutation SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_207437.3 +1 validated p.R1313C 1.000 302 0% 271 45.8% - - probably_damaging(0.999) deleterious(0.03) deleterious(0.855) HMMPfam_DHC_N2 MTRF1 9617 genome.wustl.edu 37 13 41808078 41808078 + Silent SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_004294.2 -1 reviewed p.G312 0.734 244 0% 223 41.7% - - - - - HMMPfam_RF-1,PatternScan_RF_PROK_I,superfamily_SSF75620 EPSTI1 94240 genome.wustl.edu 37 13 43543275 43543275 + Missense_Mutation SNP C C G novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_001002264.1 -1 validated p.E96Q 0.284 88 0% 67 37.3% - - unknown(0) - - NULL WDFY2 115825 genome.wustl.edu 37 13 52330513 52330513 + Missense_Mutation SNP T T C novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_052950.3 +1 reviewed p.S327P 1.000 96 0% 75 46.7% - - possibly_damaging(0.777) tolerated(0.24) neutral(0.327) HMMPfam_FYVE,HMMSmart_SM00064,superfamily_FYVE/PHD zinc finger,superfamily_WD40 repeat-like PCDH17 27253 genome.wustl.edu 37 13 58206845 58206845 + Silent SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_001040429.2 +1 reviewed p.G55 0.992 14 0% 14 35.7% - - - - - HMMSmart_SM00112,HMMPfam_Cadherin_2,superfamily_Cadherin-like MBNL2 10150 genome.wustl.edu 37 13 98009806 98009806 + Missense_Mutation SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_144778.2 +1 reviewed p.A292V 1.000 236 0% 220 43.2% - - benign(0.011) deleterious(0.03) neutral(0.365) NULL NALCN 259232 genome.wustl.edu 37 13 101717779 101717779 + Silent SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_052867.2 -1 validated p.D1527 0.822 101 0% 88 53.4% - - - - - NULL RASA3 22821 genome.wustl.edu 37 13 114793352 114793352 + Silent SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_007368.2 -1 reviewed p.Y167 0.811 8 0.000 18 0.389 - - - - - HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB RASA3 22821 genome.wustl.edu 37 13 114839246 114839246 + Missense_Mutation SNP T T C novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_007368.2 -1 reviewed p.N41S 1.000 67 0% 109 38.5% - - benign(0.009) tolerated(0.85) neutral(0.001) HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB LOC100132257 100132257 genome.wustl.edu 37 14 19114737 19114737 + Missense_Mutation SNP G G T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df XM_002343306.1 +1 model p.R61S 0.957 22 0% 19 21.1% - - - - - HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK OR4K14 122740 genome.wustl.edu 37 14 20482439 20482439 + Missense_Mutation SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_001004712.1 -1 provisional p.R305Q 0.001 227 0% 198 40.9% - - benign(0.005) tolerated(0.38) neutral(0.018) superfamily_SSF81321 TEP1 7011 genome.wustl.edu 37 14 20841704 20841704 + Missense_Mutation SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_007110.4 -1 reviewed p.G2215R 0.977 92 0% 54 64.8% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 ENSG00000246609 0 genome.wustl.edu 37 14 24035116 24035116 + RNA SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df ENST00000502153 +1 known NULL 0.218 51 0% 28 25% - - unknown(0) tolerated(0.3) - - DCAF11 80344 genome.wustl.edu 37 14 24589035 24589035 + Missense_Mutation SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_025230.4 +1 reviewed p.R341Q 1.000 49 0% 30 50% - - probably_damaging(0.994) tolerated(0.6) neutral(0.457) superfamily_WD40 repeat-like RALGAPA1 253959 genome.wustl.edu 37 14 36008844 36008844 + Silent SNP A A G novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_194301.2 -1 provisional p.D2052 0.992 104 0% 103 44.7% - - - - - NULL AKAP5 9495 genome.wustl.edu 37 14 64935406 64935406 + Missense_Mutation SNP A A C novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_004857.3 +1 reviewed p.Q98H 0.001 150 0% 131 44.3% - - benign(0.094) deleterious(0.02) neutral(0.390) HMMPfam_WSK SPTB 6710 genome.wustl.edu 37 14 65253852 65253852 + Missense_Mutation SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_001024858.2 -1 reviewed p.S944L 0.070 33 0% 22 45.5% - - benign(0) deleterious(0.02) neutral(0.383) HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_Spectrin DCAF5 8816 genome.wustl.edu 37 14 69520861 69520861 + Missense_Mutation SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_003861.2 -1 validated p.G848R 1.000 67 0% 39 41% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL SIPA1L1 26037 genome.wustl.edu 37 14 72128153 72128153 + Missense_Mutation SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_015556.1 +1 provisional p.H742Y 1.000 122 0% 100 45% - - benign(0.212) tolerated(0.12) neutral(0.281) HMMPfam_Rap_GAP,superfamily_Rap/Ran-GAP (Pfam 02145) RBM25 58517 genome.wustl.edu 37 14 73572969 73572971 + In_Frame_Del DEL AGA AGA - novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 AGA AGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_021239.2 +1 validated p.E484in_frame_del 1.000:1.000:1.000 - - - - - - - - - NULL NUMB 8650 genome.wustl.edu 37 14 73822459 73822459 + Missense_Mutation SNP T T C novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_001005743.1 -1 reviewed p.M1V 1.000 112 0% 133 40.6% - - possibly_damaging(0.836) deleterious(0.01) deleterious(0.725) NULL KIAA1737 85457 genome.wustl.edu 37 14 77579794 77579794 + Silent SNP G G A rs185492654 by1000genomes TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_033426.2 +1 validated p.S111 0.100 144 0% 117 52.1% - - unknown(0) - - NULL NRXN3 9369 genome.wustl.edu 37 14 79175899 79175899 + Missense_Mutation SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_004796.4 +1 reviewed p.L148F 1.000 309 0% 212 36.8% - - possibly_damaging(0.544) tolerated(0.06) deleterious(0.507) HMMSmart_LamG,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_2 DICER1 23405 genome.wustl.edu 37 14 95557629 95557629 + Missense_Mutation SNP T T C novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_030621.3 -1 reviewed p.E1813G 1.000 724 0% 649 44.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ribonuclease_3,HMMSmart_RIBOc,superfamily_RNase_III DYNC1H1 1778 genome.wustl.edu 37 14 102484800 102484800 + Silent SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_001376.4 +1 reviewed p.H2730 0.993 34 0% 35 48.6% - - - - - HMMSmart_AAA,HMMPfam_AAA_5,superfamily_SSF52540 ZNF839 55778 genome.wustl.edu 37 14 102792956 102792956 + Missense_Mutation SNP T T G novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_018335.3 +1 validated p.L308R 1.000 60 0% 56 23.2% - - probably_damaging(1) tolerated(0.19) deleterious(0.549) NULL RYR3 6263 genome.wustl.edu 37 15 34150101 34150101 + Missense_Mutation SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_001036.3 +1 validated p.D4710N 1.000 72 0% 44 40.9% - - benign(0.304) - - HMMPfam_Ion_trans GOLGA8A 23015 genome.wustl.edu 37 15 34676171 34676171 + Silent SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_181077.3 -1 reviewed p.H215 0.001 278 0% 237 14.8% - - - - - NULL AP4E1 23431 genome.wustl.edu 37 15 51276218 51276218 + Splice_Site SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_007347.3 +1 validated e16-1 1.000 251 0% 210 21% - - - - - - LDHAL6B 92483 genome.wustl.edu 37 15 59499421 59499421 + Silent SNP T T C novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_033195.1 +1 provisional p.S94 0.043 298 0% 204 39.7% - - - - - HMMPfam_Ldh_1_N,superfamily_NAD(P)-bd VPS13C 54832 genome.wustl.edu 37 15 62214662 62214663 + Frame_Shift_Del DEL AG AG - novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_020821.1 -1 validated p.S2303fs 0.824:1.000 - - - - - - - - - NULL ANKDD1A 348094 genome.wustl.edu 37 15 65223814 65223814 + Missense_Mutation SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df ENST00000496660 +1 known p.L176F 0.000 34 0% 37 37.8% - - benign(0.066) - - NULL DENND4A 10260 genome.wustl.edu 37 15 65954223 65954223 + Missense_Mutation SNP T T C novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_001144823.1 -1 validated p.E1896G 1.000 60 0% 38 39.5% - - probably_damaging(0.999) tolerated(0.33) deleterious(0.514) NULL NEO1 4756 genome.wustl.edu 37 15 73414923 73414923 + Missense_Mutation SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_002499.3 +1 validated p.A169V 0.032 351 0% 254 45.7% - - benign(0) tolerated(0.43) neutral(0.013) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin STRA6 64220 genome.wustl.edu 37 15 74481557 74481557 + Missense_Mutation SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_001142617.1 -1 reviewed p.T330I 1.000 18 0% 24 70.8% - - possibly_damaging(0.945) tolerated(0.09) deleterious(0.686) NULL UBE2Q2 92912 genome.wustl.edu 37 15 76171448 76171448 + Silent SNP T T C novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_173469.2 +1 validated p.P248 1.000 61 0% 68 44.1% - - - - - HMMPfam_UQ_con,HMMSmart_SM00212,superfamily_UBC-like HMG20A 10363 genome.wustl.edu 37 15 77770713 77770713 + Silent SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_018200.2 +1 provisional p.H256 0.822 83 0% 79 40.5% - - - - - NULL CHRNA3 1136 genome.wustl.edu 37 15 78894003 78894003 + Silent SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_000743.4 -1 reviewed p.N327 0.996 171 0% 145 46.9% - - - - - HMMPfam_Neur_chan_memb,superfamily_Neurotransmitter-gated ion-channel transmembrane pore SEMA4B 10509 genome.wustl.edu 37 15 90766962 90766962 + Missense_Mutation SNP A A C novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_020210.3 +1 validated p.T345P 1.000 32 0% 17 23.5% - - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_Sema,HMMSmart_SM00630,superfamily_Sema domain MCTP2 55784 genome.wustl.edu 37 15 94927303 94927303 + Silent SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_018349.3 +1 validated p.T545 0.159 89 0% 93 12.9% - - - - - HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) ALDH1A3 220 genome.wustl.edu 37 15 101438384 101438384 + Missense_Mutation SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_000693.2 +1 reviewed p.A293T 0.719 22 0% 28 39.3% - - benign(0.124) deleterious(0.04) neutral(0.359) HMMPfam_Aldedh,superfamily_Aldehyde_DH/Histidinol_DH TSC2 7249 genome.wustl.edu 37 16 2105408 2105409 + Frame_Shift_Del DEL TT TT - novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 TT TT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_000548.3 +1 reviewed p.F163fs 0.995:1.000 - - - - - - - - - superfamily_ARM repeat ERCC4 2072 genome.wustl.edu 37 16 14041927 14041927 + Missense_Mutation SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_005236.2 +1 reviewed p.A825V 0.996 169 0% 101 49.5% - - benign(0.001) tolerated(0.18) neutral(0.056) NULL BFAR 51283 genome.wustl.edu 37 16 14755842 14755842 + Missense_Mutation SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_016561.2 +1 validated p.D293N 1.000 175 0% 147 42.2% - - benign(0.418) deleterious(0.02) deleterious(0.518) NULL PDXDC1 23042 genome.wustl.edu 37 16 15127223 15127223 + Silent SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_015027.2 +1 validated p.A593 0.781 98 0% 84 44% - - - - - NULL ENSG00000217794 0 genome.wustl.edu 37 16 21561587 21561587 + Missense_Mutation SNP A A G novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df ENST00000403120 -1 known p.Y37H 0.345 148 0% 96 14.6% - - - - - HMMPfam_Carb_anhydrase,superfamily_Carbonic anhydrase,PatternScan_ALPHA_CA_1 GTF3C1 2975 genome.wustl.edu 37 16 27473664 27473664 + Missense_Mutation SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_001520.3 -1 validated p.R2023H 1.000 13 0% 11 45.5% - - possibly_damaging(0.93) tolerated(0.07) deleterious(0.696) NULL GTF3C1 2975 genome.wustl.edu 37 16 27519925 27519925 + Missense_Mutation SNP A A G novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_001520.3 -1 validated p.M393T 1.000 83 0% 50 48% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_B-block_TFIIIC ATXN2L 11273 genome.wustl.edu 37 16 28847583 28847583 + Missense_Mutation SNP G G T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_007245.2 +1 reviewed p.E1075D 0.998 64 0% 50 48% - - unknown(0) tolerated(0.72) - NULL ALDOA 226 genome.wustl.edu 37 16 30080182 30080182 + Silent SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_000034.2 +1 reviewed p.D141 0.943 58 0% 60 40% - - - - - HMMPfam_Glycolytic,superfamily_SSF51569 SEPT1 1731 genome.wustl.edu 37 16 30393475 30393475 + Silent SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_052838.2 -1 reviewed p.T40 0.997 42 0% 53 24.5% - - - - - HMMPfam_Septin,superfamily_SSF52540 ZNF629 23361 genome.wustl.edu 37 16 30795002 30795002 + Missense_Mutation SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_001080417.1 -1 provisional p.S216N 1.000 52 0% 39 53.8% - - possibly_damaging(0.854) tolerated(0.24) neutral(0.366) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ITGAM 3684 genome.wustl.edu 37 16 31286889 31286889 + Missense_Mutation SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_000632.3 +1 reviewed p.S293N 0.000 142 0% 108 45.4% - - benign(0) tolerated(0.81) neutral(0.001) HMMPfam_VWA,HMMSmart_VWA,superfamily_SSF53300,superfamily_SSF69318 ZNF267 10308 genome.wustl.edu 37 16 31926029 31926031 + In_Frame_Del DEL TTC TTC - novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 TTC TTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_003414.4 +1 validated p.S155in_frame_del 0.000:0.000:0.000 - - - - - - - - - NULL ABCC11 85320 genome.wustl.edu 37 16 48210869 48210869 + Silent SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_032583.3 -1 reviewed p.H1168 0.002 49 0% 25 48% - - - - - HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases SALL1 6299 genome.wustl.edu 37 16 51174489 51174489 + Silent SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_002968.2 -1 reviewed p.L548 1.000 106 0% 101 46.5% - - - - - NULL RPGRIP1L 23322 genome.wustl.edu 37 16 53674996 53674996 + Silent SNP T T C novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_015272.2 -1 reviewed p.T969 0.001 88 0% 114 45.6% - - - - - NULL KIFC3 3801 genome.wustl.edu 37 16 57805181 57805181 + Missense_Mutation SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_005550.3 -1 validated p.R232W 1.000 35 0% 46 37% - - probably_damaging(0.997) deleterious(0.01) deleterious(0.872) NULL CNOT1 23019 genome.wustl.edu 37 16 58608604 58608604 + Missense_Mutation SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_016284.3 -1 validated p.G630R 1.000 113 0% 165 43% - - probably_damaging(0.99) deleterious(0.01) deleterious(0.847) NULL CMTM3 123920 genome.wustl.edu 37 16 66643336 66643336 + Splice_Site SNP A A G novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_001048251.1 +1 reviewed e3-2 0.999 17 0% 11 54.5% - - - - - - CTCF 10664 genome.wustl.edu 37 16 67645967 67645968 + Frame_Shift_Del DEL TG TG - novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 TG TG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_006565.2 +1 reviewed p.C299fs 1.000:1.000 - - - - - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers SLC12A4 6560 genome.wustl.edu 37 16 67984954 67984954 + Missense_Mutation SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_005072.4 -1 validated p.A436V 1.000 45 0% 26 19.2% - - probably_damaging(0.977) deleterious(0) deleterious(0.863) HMMPfam_AA_permease ZFHX3 463 genome.wustl.edu 37 16 72832237 72832237 + Silent SNP A A G novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_006885.3 -1 reviewed p.L1448 0.200 505 0% 308 37% - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers FA2H 79152 genome.wustl.edu 37 16 74750268 74750268 + Missense_Mutation SNP T T C novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_024306.4 -1 reviewed p.H339R 1.000 49 0% 36 55.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_FA_hydroxylase WFDC1 58189 genome.wustl.edu 37 16 84353088 84353088 + Missense_Mutation SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_021197.2 +1 reviewed p.S158L 0.998 76 0% 55 60% - - probably_damaging(0.994) deleterious(0.03) deleterious(0.817) NULL ZNF778 197320 genome.wustl.edu 37 16 89294508 89294508 + Silent SNP A A G novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_182531.2 +1 validated p.L576 0.001 205 0% 259 27% - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers GAS8 2622 genome.wustl.edu 37 16 90109626 90109626 + Missense_Mutation SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_001481.2 +1 reviewed p.T437M 1.000 20 0% 18 66.7% - - probably_damaging(1) tolerated(0.1) deleterious(0.786) NULL GP1BA 2811 genome.wustl.edu 37 17 4837619 4837619 + Missense_Mutation SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_000173.5 +1 reviewed p.A561T 0.011 166 0% 151 13.2% - - possibly_damaging(0.697) deleterious(0) deleterious(0.695) NULL SPECC1 92521 genome.wustl.edu 37 17 20108622 20108622 + Silent SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_001033553.1 +1 validated p.T420 0.000 235 0% 166 46.4% - - - - - NULL PIPOX 51268 genome.wustl.edu 37 17 27372017 27372017 + Silent SNP A A G novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_016518.2 +1 validated p.Q85 0.365 96 0% 87 44.8% - - - - - HMMPfam_DAO,superfamily_FAD/NAD(P)-binding domain CCL8 6355 genome.wustl.edu 37 17 32647853 32647853 + Missense_Mutation SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_005623.2 +1 reviewed p.A76V 0.952 60 0% 58 43.1% - - possibly_damaging(0.498) tolerated(0.07) deleterious(0.486) PatternScan_SMALL_CYTOKINES_CC,HMMPfam_IL8,HMMSmart_SCY,superfamily_Chemokine_IL8 GSDMB 55876 genome.wustl.edu 37 17 38068708 38068708 + Missense_Mutation SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_001042471.1 -1 reviewed p.T93M 0.000 90 0% 82 46.3% - - benign(0.037) tolerated(0.05) neutral(0.347) HMMPfam_Gasdermin PSMD3 5709 genome.wustl.edu 37 17 38152591 38152591 + Missense_Mutation SNP G G T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_002809.2 +1 reviewed p.K492N 1.000 114 0% 77 50.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Rpn3_C MED24 9862 genome.wustl.edu 37 17 38179414 38179414 + Silent SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_014815.3 -1 reviewed p.G740 0.497 40 0% 29 41.4% - - - - - NULL WIPF2 147179 genome.wustl.edu 37 17 38420762 38420762 + Missense_Mutation SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_133264.4 +1 validated p.A112T 0.104 108 0.9% 88 47.7% - - benign(0.006) tolerated(0.36) neutral(0.020) NULL KRT25 147183 genome.wustl.edu 37 17 38911131 38911131 + Silent SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_181534.3 -1 reviewed p.S131 0.003 378 0% 330 44.2% - - - - - HMMPfam_Filament KLHL10 317719 genome.wustl.edu 37 17 40001457 40001457 + Missense_Mutation SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_152467.3 +1 validated p.C255Y 1.000 59 0% 71 40.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ACLY 47 genome.wustl.edu 37 17 40040522 40040522 + Missense_Mutation SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_001096.2 -1 reviewed p.P693L 1.000 82 0% 65 40% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ligase_CoA,superfamily_Citrate_synthase_core KAT2A 2648 genome.wustl.edu 37 17 40269516 40269516 + Silent SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_021078.2 -1 validated p.T509 0.059 25 0% 18 44.4% - - - - - superfamily_Acyl-CoA N-acyltransferases (Nat) ASB16 92591 genome.wustl.edu 37 17 42248210 42248210 + Missense_Mutation SNP T T C novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_080863.4 +1 reviewed p.L18P 1.000 15 0% 15 40% - - probably_damaging(0.998) tolerated(0.11) deleterious(0.746) NULL SLC4A1 6521 genome.wustl.edu 37 17 42333090 42333092 + In_Frame_Del DEL AAG AAG - novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 AAG AAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_000342.3 -1 reviewed p.F584in_frame_del 0.995:0.993:0.981 - - - - - - - - - HMMPfam_HCO3_cotransp PLEKHM1 9842 genome.wustl.edu 37 17 43553041 43553041 + Silent SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_014798.2 -1 reviewed p.G116 1.000 32 0% 23 30.4% - - - - - HMMPfam_RUN NXPH3 11248 genome.wustl.edu 37 17 47656116 47656116 + Silent SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_007225.2 +1 validated p.P71 0.661 33 0% 18 33.3% - - - - - HMMPfam_Neurexophilin ANKRD40 91369 genome.wustl.edu 37 17 48776890 48776890 + Silent SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_052855.3 -1 validated p.S216 0.125 129 0% 134 44% - - - - - NULL AKAP1 8165 genome.wustl.edu 37 17 55183323 55183323 + Silent SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_003488.3 +1 reviewed p.K166 0.022 54 0% 42 45.2% - - - - - NULL BZRAP1 9256 genome.wustl.edu 37 17 56386381 56386381 + Missense_Mutation SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_004758.2 -1 validated p.R1418C 0.774 38 0% 37 29.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL STRADA 92335 genome.wustl.edu 37 17 61791397 61791397 + Missense_Mutation SNP C C A rs149172145 by1000genomes TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_001003787.2 -1 reviewed p.E65D 1.000 155 0% 116 47.4% - - benign(0.001) tolerated(0.4) neutral(0.016) superfamily_Protein kinase-like (PK-like) AFMID 125061 genome.wustl.edu 37 17 76203085 76203085 + Missense_Mutation SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df ENST00000392388 +1 known p.R83Q 0.000 34 0% 29 44.8% - - unknown(0) - - NULL ENPP7 339221 genome.wustl.edu 37 17 77709262 77709262 + Missense_Mutation SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_178543.3 +1 validated p.E274K 0.000 43 0% 34 47.1% - - benign(0) tolerated(0.54) neutral(0.007) HMMPfam_Phosphodiest,superfamily_Alkaline_phosphatase_core ACTG1 71 genome.wustl.edu 37 17 79478940 79478941 + Frame_Shift_Del DEL TC TC - novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 TC TC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_001614.2 -1 reviewed p.K118fs 1.000:1.000 - - - - - - - - - HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain PCYT2 5833 genome.wustl.edu 37 17 79867430 79867430 + Silent SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_002861.3 -1 reviewed p.R46 1.000 14 0% 20 55% - - - - - HMMPfam_CTP_transf_2,superfamily_Nucleotidylyl transferase CEP192 55125 genome.wustl.edu 37 18 13096262 13096262 + Silent SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_032142.3 +1 validated p.A1575 0.985 154 0% 124 32.3% - - - - - NULL LAMA3 3909 genome.wustl.edu 37 18 21444795 21444795 + Missense_Mutation SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_198129.1 +1 reviewed p.G1544D 1.000 66 0% 42 40.5% - - probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_Laminin_B,HMMSmart_SM00281 DSG2 1829 genome.wustl.edu 37 18 29102104 29102104 + Silent SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_001943.3 +1 reviewed p.S194 0.940 151 0% 145 43.4% - - - - - HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin DTNA 1837 genome.wustl.edu 37 18 32374194 32374194 + Silent SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_001390.4 +1 reviewed p.F114 1.000 203 0% 197 37.6% - - - - - HMMPfam_efhand_1,superfamily_EF-hand NARS 4677 genome.wustl.edu 37 18 55282892 55282892 + Missense_Mutation SNP C C G novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_004539.3 -1 validated p.S108T 0.999 135 0% 172 37.8% - - benign(0.001) tolerated(0.09) neutral(0.296) superfamily_Nucleic_acid_OB ALPK2 115701 genome.wustl.edu 37 18 56246440 56246440 + Frame_Shift_Del DEL T T - novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_052947.3 -1 validated p.K523fs 0.000 - - - - - - - - - NULL C19orf29 58509 genome.wustl.edu 37 19 3612000 3612000 + Missense_Mutation SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_001080543.1 -1 validated p.R733H 1.000 24 0% 14 57.1% - - possibly_damaging(0.93) tolerated(0.4) neutral(0.393) HMMPfam_CactinC_cactus CD209 30835 genome.wustl.edu 37 19 7806259 7806259 + RNA SNP T T A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NR_026692.1 -1 reviewed NULL 0.396 30 0% 21 42.9% - - - - - - MUC16 94025 genome.wustl.edu 37 19 9047101 9047101 + Silent SNP G G T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_024690.2 -1 validated p.S11510 0.000 443 0% 445 41.1% - - - - - NULL MUC16 94025 genome.wustl.edu 37 19 9056876 9056878 + In_Frame_Del DEL AGG AGG - novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 AGG AGG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_024690.2 -1 validated p.P10190in_frame_del 0.004:0.003:0.003 - - - - - - - - - NULL ZNF560 147741 genome.wustl.edu 37 19 9577360 9577360 + Missense_Mutation SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_152476.2 -1 validated p.R755C 0.005 202 0% 227 44.5% - - probably_damaging(0.981) deleterious(0) deleterious(0.870) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 P2RY11 5032 genome.wustl.edu 37 19 10224760 10224760 + Silent SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_002566.4 +1 reviewed p.A157 0.000 26 0% 18 38.9% - - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like NFIX 4784 genome.wustl.edu 37 19 13186360 13186360 + Missense_Mutation SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_002501.2 +1 validated p.R277H 1.000 37 0% 27 37% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_CTF_NFI TRMT1 55621 genome.wustl.edu 37 19 13216125 13216125 + Missense_Mutation SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_001136035.2 -1 validated p.R597W 0.526 24 0% 20 30% - - probably_damaging(0.986) deleterious(0.01) deleterious(0.840) superfamily_CCCH zinc finger DNAJB1 3337 genome.wustl.edu 37 19 14627470 14627470 + Missense_Mutation SNP T T A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_006145.1 -1 provisional p.E200D 1.000 154 0% 172 43.6% - - probably_damaging(0.972) deleterious(0) deleterious(0.859) superfamily_HSP40/DnaJ peptide-binding domain LOC100287986 100287986 genome.wustl.edu 37 19 15687555 15687555 + Missense_Mutation SNP G G A rs141046472 by1000genomes TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df XM_002343618.1 -1 model p.A676V 0.000 45 0% 47 48.9% - - - - - NULL CYP4F2 8529 genome.wustl.edu 37 19 15990643 15990643 + Missense_Mutation SNP G G T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_001082.3 -1 reviewed p.P394T 0.990 278 0% 209 42.1% - - possibly_damaging(0.86) deleterious(0.01) deleterious(0.738) HMMPfam_p450,superfamily_Cytochrome_P450 SIN3B 23309 genome.wustl.edu 37 19 16952766 16952791 + Splice_Site DEL TGCACACGTACCAGGTAAGAACTCAG TGCACACGTACCAGGTAAGAACTCAG - novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 TGCACACGTACCAGGTAAGAACTCAG TGCACACGTACCAGGTAAGAACTCAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_015260.1 +1 provisional e5-1 0.999:0.996:1.000:1.000:1.000:1.000:1.000:0.243:0.998:1.000:1.000:1.000:1.000:1.000:1.000:0.993 - - - - - - - - - - MAP1S 55201 genome.wustl.edu 37 19 17845184 17845184 + Missense_Mutation SNP A A C novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_018174.4 +1 validated p.S1043R 1.000 20 0% 16 62.5% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL PIK3R2 5296 genome.wustl.edu 37 19 18273784 18273784 + Missense_Mutation SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_005027.2 +1 validated p.G373R 0.998 27 0% 24 37.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SH2,HMMSmart_SM00252,superfamily_SH2 domain TMEM161A 54929 genome.wustl.edu 37 19 19232229 19232229 + Missense_Mutation SNP A A G novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_017814.1 -1 provisional p.F268L 0.452 14 0% 20 40% - - benign(0) tolerated(1) - HMMPfam_Tmemb_161AB ZNF66P 7617 genome.wustl.edu 37 19 20989358 20989359 + Frame_Shift_Del DEL TG TG - novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 TG TG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df ENST00000425625 +1 known p.C364fs 0.997:1.000 - - - - - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ENSG00000213974 0 genome.wustl.edu 37 19 22785624 22785624 + Silent SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df ENST00000397112 +1 known p.S133 0.999 46 2.2% 36 52.8% - - - - - NULL TSHZ3 57616 genome.wustl.edu 37 19 31770008 31770008 + Missense_Mutation SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_020856.2 -1 validated p.V231M 1.000 330 0% 246 48.4% - - possibly_damaging(0.842) deleterious(0) deleterious(0.766) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2 HAUS5 23354 genome.wustl.edu 37 19 36108087 36108087 + Missense_Mutation SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_015302.1 +1 validated p.V183M 0.152 92 0% 56 35.7% - - benign(0.001) tolerated(0.14) neutral(0.249) NULL NPHS1 4868 genome.wustl.edu 37 19 36339694 36339694 + Missense_Mutation SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_004646.3 -1 reviewed p.P339S 1.000 74 0% 46 39.1% - - possibly_damaging(0.898) tolerated(0.32) neutral(0.379) superfamily_Immunoglobulin RYR1 6261 genome.wustl.edu 37 19 38993258 38993258 + Missense_Mutation SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_000540.2 +1 reviewed p.A2576T 1.000 18 0% 20 35% - - probably_damaging(0.967) - - NULL ADCK4 79934 genome.wustl.edu 37 19 41209478 41209478 + Missense_Mutation SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_024876.3 -1 validated p.A256V 0.997 18 0% 16 56.2% - - benign(0.125) tolerated(0.52) neutral(0.019) HMMPfam_ABC1,superfamily_Protein kinase-like (PK-like) ZNF526 116115 genome.wustl.edu 37 19 42729212 42729212 + Silent SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_133444.1 +1 provisional p.H219 1.000 143 0% 127 46.5% - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers RRAS 6237 genome.wustl.edu 37 19 50140368 50140368 + Missense_Mutation SNP T T C novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_006270.3 -1 provisional p.Y58C 1.000 25 0% 22 31.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases MYH14 79784 genome.wustl.edu 37 19 50796928 50796928 + Missense_Mutation SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_001077186.1 +1 reviewed p.R1785H 1.000 72 0% 71 45.1% - - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_Myosin_tail_1 HAS1 3036 genome.wustl.edu 37 19 52219546 52219546 + Missense_Mutation SNP G G T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_001523.2 -1 reviewed p.L342I 1.000 243 0% 210 37.6% - - possibly_damaging(0.873) deleterious(0) deleterious(0.784) superfamily_SSF53448 ZNF347 84671 genome.wustl.edu 37 19 53644417 53644417 + Missense_Mutation SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_032584.2 -1 validated p.S555N 0.000 481 0% 455 47% - - possibly_damaging(0.762) tolerated(0.54) neutral(0.290) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF761 388561 genome.wustl.edu 37 19 53958910 53958910 + Silent SNP A A G novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_001008401.3 +1 validated p.K383 0.639 487 0% 467 52% - - - - - HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZSCAN5B 342933 genome.wustl.edu 37 19 56704243 56704243 + Missense_Mutation SNP T T C novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_001080456.2 -1 validated p.Q60R 0.001 94 0% 56 8.9% - - probably_damaging(0.98) deleterious(0.02) deleterious(0.807) HMMPfam_SCAN,HMMSmart_SCAN SNAP25 6616 genome.wustl.edu 37 20 10265388 10265388 + Missense_Mutation SNP T T C novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_003081.2 +1 reviewed p.I44T 1.000 166 0% 125 51.2% - - probably_damaging(0.998) tolerated(0.13) deleterious(0.727) HMMSmart_SM00397 RRBP1 6238 genome.wustl.edu 37 20 17600998 17600998 + Silent SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_001042576.1 -1 reviewed p.K742 0.980 95 0% 64 39.1% - - - - - NULL C20orf26 26074 genome.wustl.edu 37 20 20232330 20232330 + Missense_Mutation SNP G G C novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_015585.3 +1 validated p.A751P 0.996 134 0% 128 47.7% - - possibly_damaging(0.922) tolerated(0.26) neutral(0.405) superfamily_FAD/NAD(P)-binding domain CSTL1 128817 genome.wustl.edu 37 20 23425443 23425443 + Silent SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_138283.1 +1 reviewed p.P122 1.000 143 0% 119 39.5% - - - - - HMMPfam_Cystatin,HMMSmart_CY,superfamily_SSF54403 CST9L 128821 genome.wustl.edu 37 20 23549010 23549010 + Silent SNP G G T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_080610.2 -1 reviewed p.I26 0.000 87 0% 80 48.7% - - - - - NULL CST4 1472 genome.wustl.edu 37 20 23667797 23667797 + Silent SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_001899.2 -1 reviewed p.G90 0.072 263 0% 213 12.7% - - - - - HMMPfam_Cystatin,HMMSmart_CY,superfamily_SSF54403 C20orf3 57136 genome.wustl.edu 37 20 24950977 24950977 + Missense_Mutation SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_020531.2 -1 validated p.T190I 0.000 224 0% 182 46.2% - - benign(0) tolerated(0.21) neutral(0.044) superfamily_Calcium-dependent phosphotriesterase CTNNBL1 56259 genome.wustl.edu 37 20 36396410 36396410 + Silent SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_030877.3 +1 reviewed p.Q238 1.000 222 0% 190 41.1% - - - - - superfamily_ARM repeat CTNNBL1 56259 genome.wustl.edu 37 20 36488425 36488425 + Missense_Mutation SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_030877.3 +1 reviewed p.A506V 1.000 123 0% 112 43.8% - - benign(0.078) tolerated(0.17) neutral(0.065) superfamily_ARM repeat RIMS4 140730 genome.wustl.edu 37 20 43385610 43385610 + Missense_Mutation SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_182970.2 -1 validated p.R174C 1.000 209 0% 169 42% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB ZNFX1 57169 genome.wustl.edu 37 20 47869285 47869285 + Missense_Mutation SNP T T C novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_021035.2 -1 validated p.N1063S 0.999 97 0% 76 17.1% - - benign(0.221) tolerated(0.18) neutral(0.078) superfamily_P-loop containing nucleoside triphosphate hydrolases SPATA2 9825 genome.wustl.edu 37 20 48523010 48523010 + Missense_Mutation SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_001135773.1 -1 validated p.R237W 1.000 44 0% 47 48.9% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL RAE1 8480 genome.wustl.edu 37 20 55949675 55949675 + Missense_Mutation SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_001015885.1 +1 reviewed p.A280T 0.973 225 0% 286 44.1% - - possibly_damaging(0.908) deleterious(0.04) deleterious(0.710) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 CTCFL 140690 genome.wustl.edu 37 20 56090777 56090777 + Silent SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_080618.2 -1 reviewed p.T391 0.001 72 0% 62 46.8% - - - - - HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF831 128611 genome.wustl.edu 37 20 57766296 57766296 + Silent SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_178457.1 +1 provisional p.R74 0.000 11 0% 15 46.7% - - - - - NULL GTPBP5 26164 genome.wustl.edu 37 20 60775853 60775853 + Missense_Mutation SNP A A G novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_015666.3 +1 validated p.Q314R 0.000 82 0% 69 31.9% - - possibly_damaging(0.685) tolerated(0.21) neutral(0.288) HMMPfam_MMR_HSR1,superfamily_SSF52540 TIAM1 7074 genome.wustl.edu 37 21 32526571 32526571 + Silent SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_003253.2 -1 validated p.Y1055 0.028 100 0% 91 53.8% - - - - - HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_DH-domain IFNGR2 3460 genome.wustl.edu 37 21 34793916 34793916 + Silent SNP T T G novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_005534.3 +1 reviewed p.T112 0.000 122 0% 111 18.9% - - - - - superfamily_Fibronectin type III DYRK1A 1859 genome.wustl.edu 37 21 38865350 38865350 + Missense_Mutation SNP G G T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_001396.3 +1 reviewed p.R328L 1.000 503 0% 353 40.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase IGSF5 150084 genome.wustl.edu 37 21 41151154 41151154 + Missense_Mutation SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_001080444.1 +1 provisional p.R286C 0.007 138 0% 109 38.5% - - probably_damaging(0.988) tolerated(0.05) deleterious(0.783) NULL RRP1B 23076 genome.wustl.edu 37 21 45096647 45096647 + Silent SNP C C A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_015056.2 +1 validated p.V216 0.421 106 0% 138 47.1% - - - - - HMMPfam_Nop52 COL18A1 80781 genome.wustl.edu 37 21 46907403 46907403 + Nonsense_Mutation SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_130444.2 +1 reviewed p.R1041* 0.004 12 0.000 7 0.714 - - - - - NULL LOC100288508 100288508 genome.wustl.edu 37 21 47546202 47546202 + Silent SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df XM_002343757.1 -1 model p.S189 0.002 44 0% 55 49.1% - - - - - NULL LSS 4047 genome.wustl.edu 37 21 47633708 47633708 + Silent SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_001001438.2 -1 reviewed p.D351 0.026 10 0% 10 60% - - - - - superfamily_Terp_cyc_toroid HIRA 7290 genome.wustl.edu 37 22 19373148 19373148 + Nonsense_Mutation SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_003325.3 -1 reviewed p.Q409* 1.000 54 0% 28 39.3% - - - - - NULL FLJ39582 353117 genome.wustl.edu 37 22 21357443 21357443 + RNA SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NR_027052.1 +1 validated NULL 1.000 12 0% 15 53.3% - - - - - - EIF4ENIF1 56478 genome.wustl.edu 37 22 31864172 31864172 + Missense_Mutation SNP C C A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_019843.3 -1 reviewed p.R96L 1.000 154 0% 160 41.9% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_EIF4E-T SYN3 8224 genome.wustl.edu 37 22 32934088 32934088 + Missense_Mutation SNP G G T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_003490.3 -1 reviewed p.S309Y 1.000 181 0% 135 47.4% - - unknown(0) deleterious(0) - HMMPfam_Synapsin_C,superfamily_Glutathione synthetase ATP-binding domain-like TIMP3 7078 genome.wustl.edu 37 22 33254032 33254032 + Silent SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_000362.4 +1 reviewed p.T115 0.096 149 0.7% 110 48.2% - - - - - HMMPfam_TIMP,HMMSmart_SM00206,superfamily_TIMP-like EP300 2033 genome.wustl.edu 37 22 41554474 41554474 + Missense_Mutation SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_001429.3 +1 reviewed p.R1187H 1.000 40 0% 37 51.4% - - unknown(0) deleterious(0) - HMMPfam_DUF902 BMX 660 genome.wustl.edu 37 X 15568079 15568079 + Missense_Mutation SNP T T C novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_001721.6 +1 reviewed p.S638P 0.055 211 0% 169 44.4% - - benign(0.032) tolerated(0.27) neutral(0.035) HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like FAM47A 158724 genome.wustl.edu 37 X 34149301 34149301 + Silent SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_203408.3 -1 validated p.A365 0.002 232 0% 192 45.3% - - - - - NULL CXorf22 170063 genome.wustl.edu 37 X 35944155 35944155 + Missense_Mutation SNP C C G novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_152632.3 +1 validated p.L91V 0.280 153 0% 110 41.8% - - benign(0.256) tolerated(1) neutral(0.026) NULL USP9X 8239 genome.wustl.edu 37 X 41060463 41060465 + In_Frame_Del DEL TTC TTC - novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 TTC TTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_001039590.2 +1 reviewed p.L1586in_frame_del 1.000:1.000:1.000 - - - - - - - - - HMMPfam_UCH,superfamily_Cysteine proteinases CASK 8573 genome.wustl.edu 37 X 41394219 41394219 + Missense_Mutation SNP A A T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_001126055.2 -1 reviewed p.D692E 1.000 103 0% 53 39.6% - - probably_damaging(1) deleterious(0.02) deleterious(0.883) superfamily_SH3 TSPYL2 64061 genome.wustl.edu 37 X 53115135 53115135 + Missense_Mutation SNP A A G novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_022117.3 +1 reviewed p.N521D 0.031 141 0% 118 22.9% - - benign(0.352) tolerated(0.67) neutral(0.114) NULL MAGEH1 28986 genome.wustl.edu 37 X 55478972 55478972 + Silent SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_014061.3 +1 reviewed p.P55 0.000 52 0% 31 45.2% - - - - - NULL PCDH19 57526 genome.wustl.edu 37 X 99663257 99663257 + Silent SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_001105243.1 -1 reviewed p.C113 1.000 62 0% 32 25% - - - - - HMMSmart_CA,superfamily_Cadherin FRMPD3 84443 genome.wustl.edu 37 X 106844915 106844915 + Silent SNP C C T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df XM_042978.6 +1 model p.L1249 0.986 163 0% 106 44.3% - - - - - NULL THOC2 57187 genome.wustl.edu 37 X 122774407 122774407 + Silent SNP T T C novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_001081550.1 -1 validated p.P576 1.000 296 0% 313 39.3% - - - - - NULL THOC2 57187 genome.wustl.edu 37 X 122801077 122801077 + Missense_Mutation SNP T T C novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_001081550.1 -1 validated p.D357G 1.000 544 0% 406 41.4% - - benign(0.208) tolerated(0.1) neutral(0.306) NULL ODZ1 10178 genome.wustl.edu 37 X 123615602 123615602 + Missense_Mutation SNP G G T novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_014253.3 -1 reviewed p.A1303D 1.000 225 0% 191 45% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF101898 CCDC160 347475 genome.wustl.edu 37 X 133379675 133379675 + Missense_Mutation SNP A A C novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_001101357.1 +1 provisional p.K282T 0.398 95 0% 93 47.3% - - probably_damaging(0.991) deleterious(0.03) deleterious(0.808) NULL GPR112 139378 genome.wustl.edu 37 X 135431196 135431196 + Silent SNP T T C novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_153834.3 +1 reviewed p.A1777 0.000 734 0% 570 43.3% - - - - - NULL CDR1 1038 genome.wustl.edu 37 X 139866322 139866322 + Silent SNP C C T rs191541717 by1000genomes TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_004065.2 -1 reviewed p.S70 0.078 588 0% 419 41.8% - - - - - NULL LOC392555 392555 genome.wustl.edu 37 X 141260875 141260875 + Missense_Mutation SNP A A G novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df XM_002343852.1 -1 model p.L351P 0.010 397 0% 291 41.2% - - - - - HMMPfam_MAGE GPR50 9248 genome.wustl.edu 37 X 150349091 150349091 + Missense_Mutation SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_004224.3 +1 reviewed p.A346T 0.002 371 0% 326 37.4% - - benign(0.316) tolerated(0.2) neutral(0.148) NULL ATP2B3 492 genome.wustl.edu 37 X 152813316 152813316 + Missense_Mutation SNP G G A novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df NM_001001344.2 +1 reviewed p.A328T 1.000 51 0% 39 46.2% - - benign(0.408) tolerated(0.13) neutral(0.385) HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transmembrane domain M IL9R 3581 genome.wustl.edu 37 X 155227416 155227416 + Missense_Mutation SNP A A G novel TCGA-A5-A0GH-01A-21W-A062-09 TCGA-A5-A0GH-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca16128d-bf80-487e-aa41-ab38f10485de 7e4a42df-c683-49fe-89fe-9e95b9f070df ENST00000369423 +1 known p.Q3R 0.001 94 0% 60 56.7% - - unknown(0) - - NULL