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 TP73-AS1 57212 genome.wustl.edu 37 1 3662321 3662321 + Silent SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_207306.2 -1 predicted p.L149 0.010 11 0% 22 36.4% - - - - - NULL SPSB1 80176 genome.wustl.edu 37 1 9416307 9416307 + Silent SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_025106.3 +1 validated p.T119 0.019 24 0% 23 43.5% - - - - - HMMPfam_SPRY,HMMSmart_SPRY PIK3CD 5293 genome.wustl.edu 37 1 9783218 9783218 + Missense_Mutation SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_005026.3 +1 validated p.R821H 0.967 41 0% 71 47.9% - - benign(0.026) tolerated(0.06) neutral(0.324) HMMPfam_PI3_PI4_kinase,HMMSmart_PI3Kc,superfamily_Kinase_like PDPN 10630 genome.wustl.edu 37 1 13936948 13936948 + Missense_Mutation SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_006474.4 +1 reviewed p.V166I 0.011 143 0% 181 52.5% - - benign(0.094) tolerated(0.69) neutral(0.009) HMMPfam_Podoplanin PINK1 65018 genome.wustl.edu 37 1 20975093 20975093 + Missense_Mutation SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_032409.2 +1 reviewed p.R407W 1.000 32 0% 20 55% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase USP48 84196 genome.wustl.edu 37 1 22048218 22048218 + Missense_Mutation SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_032236.5 -1 reviewed p.R563H 1.000 59 0% 70 54.3% - - probably_damaging(0.997) deleterious(0.04) deleterious(0.815) NULL ARID1A 8289 genome.wustl.edu 37 1 27088739 27088739 + Frame_Shift_Del DEL C C - novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_006015.4 +1 reviewed p.T783fs 1.000 - - - - - - - - - NULL PHACTR4 65979 genome.wustl.edu 37 1 28802786 28802786 + Missense_Mutation SNP A A G novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_023923.3 +1 reviewed p.E540G 1.000 128 0% 122 43.4% - - possibly_damaging(0.588) tolerated(0.06) deleterious(0.526) NULL S100PBP 64766 genome.wustl.edu 37 1 33321534 33321534 + Silent SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_022753.2 +1 validated p.A374 0.996 76 0% 96 36.5% - - - - - NULL SLFNL1 200172 genome.wustl.edu 37 1 41483462 41483462 + Missense_Mutation SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_144990.3 -1 validated p.V268M 0.997 74 0% 67 47.8% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_AAA_4 JAK1 3716 genome.wustl.edu 37 1 65316544 65316544 + Frame_Shift_Del DEL G G - novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_002227.2 -1 reviewed p.V567fs 0.004 - - - - - - - - - superfamily_SSF55550 GIPC2 54810 genome.wustl.edu 37 1 78560689 78560689 + Missense_Mutation SNP T T G novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_017655.4 +1 validated p.D160E 1.000 238 0% 273 46.2% - - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ DNTTIP2 30836 genome.wustl.edu 37 1 94342647 94342647 + Missense_Mutation SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_014597.3 -1 provisional p.E282K 0.000 137 0% 139 12.9% - - benign(0) tolerated(0.85) neutral(0.001) NULL SYT6 148281 genome.wustl.edu 37 1 114640423 114640423 + Missense_Mutation SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_205848.2 -1 validated p.E396K 1.000 137 0% 151 43.7% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMSmart_C2,superfamily_C2_CaLB HSD3B1 3283 genome.wustl.edu 37 1 120050194 120050194 + Missense_Mutation SNP T T A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_000862.2 +1 validated p.I32N 0.985 369 0% 368 45.1% - - probably_damaging(0.965) deleterious(0) deleterious(0.851) HMMPfam_3Beta_HSD,superfamily_NAD(P)-bd NBPF7 343505 genome.wustl.edu 37 1 120385056 120385056 + Missense_Mutation SNP C C A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_001047980.1 -1 predicted p.R113M 0.005 191 0% 260 47.3% - - - - - NULL PIAS3 10401 genome.wustl.edu 37 1 145585509 145585509 + Missense_Mutation SNP C C A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_006099.3 +1 reviewed p.R592S 1.000 125 0% 123 48% - - benign(0.006) tolerated(0.65) neutral(0.003) NULL PRKAB2 5565 genome.wustl.edu 37 1 146639477 146639477 + Silent SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_005399.3 -1 reviewed p.Q64 0.996 224 0% 289 47.8% - - - - - NULL SV2A 9900 genome.wustl.edu 37 1 149885237 149885237 + Missense_Mutation SNP C C A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_014849.3 -1 validated p.E52D 0.178 251 0% 303 42.6% - - benign(0.001) tolerated(0.12) neutral(0.261) NULL C1orf51 148523 genome.wustl.edu 37 1 150259121 150259121 + Missense_Mutation SNP C C A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_144697.2 +1 predicted p.H305N 0.563 530 0.2% 653 30.8% - - benign(0.301) deleterious(0) deleterious(0.537) NULL DCST1 149095 genome.wustl.edu 37 1 155012971 155012971 + Silent SNP C C A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_152494.2 +1 validated p.A134 1.000 17 0.000 7 0.714 - - - - - NULL ADAM15 8751 genome.wustl.edu 37 1 155034944 155034944 + Missense_Mutation SNP C C A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_207197.1 +1 reviewed p.P853Q 0.819 9 0.000 12 0.333 - - unknown(0) deleterious(0.03) - NULL SLAMF8 56833 genome.wustl.edu 37 1 159802795 159802795 + Missense_Mutation SNP G G A rs186733189 by1000genomes TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_020125.2 +1 reviewed p.R166Q 0.606 179 0% 217 42.9% - - benign(0.076) tolerated(0.42) neutral(0.019) superfamily_Immunoglobulin IGSF8 93185 genome.wustl.edu 37 1 160062723 160062723 + Missense_Mutation SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_052868.2 -1 provisional p.R435W 0.909 161 0% 111 45.9% - - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMSmart_SM00409 RGS4 5999 genome.wustl.edu 37 1 163039248 163039249 + Frame_Shift_Ins INS - - T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_001102445.2 +1 reviewed p.A90fs 0.000:0.001 - - - - - - - - - NULL NUF2 83540 genome.wustl.edu 37 1 163317706 163317706 + Missense_Mutation SNP C C A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_031423.3 +1 reviewed p.Q368K 0.885 149 0.7% 184 10.9% - - possibly_damaging(0.769) deleterious(0.03) deleterious(0.650) NULL BLZF1 8548 genome.wustl.edu 37 1 169346175 169346175 + Missense_Mutation SNP G G T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_003666.2 +1 validated p.Q142H 1.000 242 0% 222 37.4% - - probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL PRRC2C 23215 genome.wustl.edu 37 1 171510116 171510116 + Missense_Mutation SNP A A G novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_015172.3 +1 validated p.T1169A 1.000 127 0% 121 38.8% - - unknown(0) - - NULL TNN 63923 genome.wustl.edu 37 1 175113677 175113677 + Silent SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_022093.1 +1 validated p.K1250 0.998 135 0% 149 18.1% - - - - - HMMPfam_Fibrinogen_C,HMMSmart_SM00186,superfamily_Fibrinogen C-terminal domain-like CACNA1E 777 genome.wustl.edu 37 1 181754899 181754899 + Missense_Mutation SNP G G T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_000721.2 +1 reviewed p.E1910D 1.000 443 0% 496 10.1% - - benign(0.019) tolerated(0.24) neutral(0.038) NULL APOBEC4 403314 genome.wustl.edu 37 1 183616942 183616942 + Missense_Mutation SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_203454.2 -1 reviewed p.M325I 0.002 308 0% 270 45.9% - - benign(0) tolerated(0.13) neutral(0.253) NULL HMCN1 83872 genome.wustl.edu 37 1 185834941 185834941 + Silent SNP T T C novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_031935.2 +1 reviewed p.I189 1.000 155 0% 185 44.3% - - - - - superfamily_vWA-like IGFN1 91156 genome.wustl.edu 37 1 201190806 201190806 + Missense_Mutation SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f ENST00000451870 +1 known p.A921V 0.995 75 0% 80 22.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III LAD1 3898 genome.wustl.edu 37 1 201352317 201352317 + Missense_Mutation SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_005558.3 -1 reviewed p.R424Q 0.005 180 0% 235 43.4% - - benign(0.116) tolerated(0.3) neutral(0.037) NULL PPFIA4 8497 genome.wustl.edu 37 1 203040888 203040888 + Silent SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_015053.1 +1 validated p.D625 0.819 35 0% 35 45.7% - - - - - NULL TMCC2 9911 genome.wustl.edu 37 1 205241234 205241234 + Silent SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_014858.3 +1 validated p.H704 0.996 34 0% 44 31.8% - - - - - NULL NUCKS1 64710 genome.wustl.edu 37 1 205696903 205696903 + Missense_Mutation SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_022731.3 -1 validated p.P33L 0.999 101 0% 99 39.4% - - probably_damaging(0.997) deleterious(0.01) deleterious(0.872) NULL PLXNA2 5362 genome.wustl.edu 37 1 208272285 208272285 + Missense_Mutation SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_025179.3 -1 reviewed p.A546V 1.000 18 0% 16 50% - - probably_damaging(0.991) tolerated(0.06) deleterious(0.766) HMMPfam_PSI,HMMSmart_SM00423,superfamily_Plexin repeat KCNH1 3756 genome.wustl.edu 37 1 210971025 210971025 + Silent SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_172362.2 -1 reviewed p.P580 0.001 79 0% 76 46.1% - - - - - superfamily_cAMP-binding domain-like USH2A 7399 genome.wustl.edu 37 1 215847527 215847527 + Nonsense_Mutation SNP C C A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_206933.2 -1 reviewed p.E4576* 0.148 482 0% 482 41.9% - - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III DUSP10 11221 genome.wustl.edu 37 1 221875919 221875919 + Silent SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_007207.3 -1 reviewed p.R428 1.000 226 0% 178 33.7% - - - - - HMMPfam_DSPc,HMMSmart_SM00195,superfamily_(Phosphotyrosine protein) phosphatases II ABCB10 23456 genome.wustl.edu 37 1 229665986 229665986 + Silent SNP T T G novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_012089.2 -1 reviewed p.T535 0.141 207 0% 248 12.9% - - - - - HMMPfam_ABC_tran,HMMSmart_AAA,superfamily_SSF52540 KIAA1804 84451 genome.wustl.edu 37 1 233489618 233489618 + Missense_Mutation SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_032435.2 +1 validated p.A351V 0.998 205 0% 193 15% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase RYR2 6262 genome.wustl.edu 37 1 237949334 237949334 + Silent SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_001035.2 +1 reviewed p.A4442 0.561 84 0% 93 11.8% - - - - - HMMPfam_RR_TM4-6 ATP6V1C2 245973 genome.wustl.edu 37 2 10917818 10917819 + Frame_Shift_Ins INS - - AG novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_001039362.1 +1 reviewed p.E315fs 1.000:1.000 - - - - - - - - - HMMPfam_V-ATPase_C APOB 338 genome.wustl.edu 37 2 21239325 21239325 + Silent SNP G G T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_000384.2 -1 reviewed p.L1106 0.043 144 0% 136 35.3% - - - - - NULL OTOF 9381 genome.wustl.edu 37 2 26683866 26683866 + Missense_Mutation SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_194248.2 -1 reviewed p.R1856W 0.992 33 3% 42 45.2% - - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) CAD 790 genome.wustl.edu 37 2 27448706 27448706 + Missense_Mutation SNP C C G novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_004341.3 +1 reviewed p.T585S 1.000 138 0% 107 54.2% - - benign(0.018) tolerated(1) neutral(0.001) HMMPfam_CPSase_L_D2,superfamily_SSF56059 SLC30A3 7781 genome.wustl.edu 37 2 27480152 27480152 + Missense_Mutation SNP G G T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_003459.4 -1 validated p.P216Q 0.999 15 0% 23 52.2% - - benign(0.047) tolerated(0.41) neutral(0.018) HMMPfam_Cation_efflux C2orf16 84226 genome.wustl.edu 37 2 27803722 27803722 + Missense_Mutation SNP T T C novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_032266.3 +1 validated p.L1428S 0.000 125 0% 163 45.4% - - possibly_damaging(0.68) deleterious(0) deleterious(0.687) NULL SLC8A1 6546 genome.wustl.edu 37 2 40342722 40342722 + Missense_Mutation SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_021097.2 -1 validated p.A865T 1.000 107 0% 122 19.7% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Na_Ca_ex PLEKHH2 130271 genome.wustl.edu 37 2 43939469 43939469 + Missense_Mutation SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_172069.3 +1 validated p.P803S 1.000 107 0% 115 46.1% - - probably_damaging(0.991) tolerated(0.08) deleterious(0.744) superfamily_PH domain-like MTIF2 4528 genome.wustl.edu 37 2 55481207 55481207 + Missense_Mutation SNP C C A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_001005369.1 -1 reviewed p.G212C 1.000 123 0% 129 39.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_GTP_EFTU,superfamily_SSF52540 FAM161A 84140 genome.wustl.edu 37 2 62067223 62067223 + Missense_Mutation SNP G G A rs183615774 by1000genomes TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_032180.2 -1 validated p.R306W 0.991 311 0% 370 45.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_UPF0564 ASPRV1 151516 genome.wustl.edu 37 2 70188817 70188817 + Missense_Mutation SNP C C A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_152792.2 -1 validated p.G2W 0.969 139 0% 111 41.4% - - probably_damaging(0.994) deleterious(0) deleterious(0.897) NULL SLC4A5 57835 genome.wustl.edu 37 2 74460641 74460641 + Missense_Mutation SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_021196.3 -1 reviewed p.P828L 0.997 68 0% 50 12% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HCO3_cotransp C2orf15 150590 genome.wustl.edu 37 2 99767295 99767295 + Nonstop_Mutation SNP T T C novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_144706.2 +1 predicted p.*126R 0.999 99 0% 118 17.8% - - - - - NULL UGGT1 56886 genome.wustl.edu 37 2 128918111 128918111 + Silent SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_020120.3 +1 validated p.C880 1.000 59 0% 54 50% - - - - - NULL NCKAP5 344148 genome.wustl.edu 37 2 133554303 133554303 + Splice_Site SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_207363.2 -1 validated e10-1 1.000 53 0% 35 40% - - - - - - GRB14 2888 genome.wustl.edu 37 2 165358837 165358837 + Missense_Mutation SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_004490.2 -1 reviewed p.M344I 1.000 37 0% 63 39.7% - - benign(0.253) tolerated(0.3) neutral(0.054) HMMSmart_PH,superfamily_SSF50729 NOSTRIN 115677 genome.wustl.edu 37 2 169690740 169690742 + Splice_Site DEL AAG AAG - novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 AAG AAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f ENST00000458381 +1 known e7-1 1.000:1.000:1.000 - - - - - - - - - - RAPGEF4 11069 genome.wustl.edu 37 2 173679122 173679122 + Missense_Mutation SNP T T C novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_007023.3 +1 validated p.I138T 0.999 190 0% 186 51.1% - - benign(0.046) deleterious(0) neutral(0.447) HMMPfam_cNMP_binding,HMMSmart_SM00100,superfamily_cAMP-binding domain-like RAPGEF4 11069 genome.wustl.edu 37 2 173832079 173832081 + In_Frame_Del DEL AGA AGA - novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 AGA AGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_007023.3 +1 validated p.K306in_frame_del 1.000:1.000:1.000 - - - - - - - - - "superfamily_""Winged helix"" DNA-binding domain" DFNB59 494513 genome.wustl.edu 37 2 179320752 179320752 + Silent SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f ENST00000442710 +1 known p.P89S 0.990 42 0% 53 43.4% - - - - - NULL TTN 7273 genome.wustl.edu 37 2 179441333 179441333 + Missense_Mutation SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f ENST00000356127 -1 known p.R20643H 1.000 163 0% 191 31.9% - - probably_damaging(1) - - HMMPfam_fn3,HMMSmart_SM00060 TFPI 7035 genome.wustl.edu 37 2 188349619 188349619 + Missense_Mutation SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_006287.4 -1 reviewed p.R152C 0.016 132 0% 170 25.3% - - probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMPfam_Kunitz_BPTI,HMMSmart_SM00131,superfamily_BPTI-like MFSD6 54842 genome.wustl.edu 37 2 191300862 191300862 + Missense_Mutation SNP C C A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_017694.3 +1 validated p.P36H 0.996 183 0% 191 46.6% - - probably_damaging(0.995) deleterious(0.01) deleterious(0.863) superfamily_MFS_gen_substrate_transporter SATB2 23314 genome.wustl.edu 37 2 200173513 200173513 + Silent SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_015265.3 -1 reviewed p.H570 0.108 138 0% 126 12.7% - - - - - NULL CRYGA 1418 genome.wustl.edu 37 2 209025703 209025703 + Missense_Mutation SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_014617.3 -1 validated p.R117H 0.078 81 0% 110 53.6% - - benign(0.001) tolerated(0.71) neutral(0.002) HMMPfam_Crystall,HMMSmart_SM00247,superfamily_gamma-Crystallin-like ZFAND2B 130617 genome.wustl.edu 37 2 220072128 220072128 + Silent SNP A A T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_138802.1 +1 provisional p.G45 0.937 71 0% 73 38.4% - - - - - HMMPfam_zf-AN1,HMMSmart_SM00154 CCDC140 151278 genome.wustl.edu 37 2 223168833 223168833 + Missense_Mutation SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_153038.1 +1 validated p.P71L 0.000 49 0% 66 43.9% - - unknown(0) - - NULL GIGYF2 26058 genome.wustl.edu 37 2 233712227 233712229 + In_Frame_Del DEL ACA ACA - rs58340018 TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 ACA ACA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_001103147.1 +1 reviewed p.Q1235in_frame_del 0.057:0.094:0.124 - - - - - - - - - NULL NGEF 25791 genome.wustl.edu 37 2 233785159 233785159 + Silent SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_019850.2 -1 validated p.E221 0.996 35 0% 36 13.9% - - - - - NULL TRPM8 79054 genome.wustl.edu 37 2 234846018 234846018 + Silent SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_024080.4 +1 validated p.G71 0.997 156 0% 170 49.4% - - - - - NULL RPUSD3 285367 genome.wustl.edu 37 3 9883682 9883682 + Missense_Mutation SNP A A G novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_173659.3 -1 validated p.V131A 0.973 234 0% 261 40.6% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_PseudoU_synth_2,superfamily_Pseudouridine synthase IL17RE 132014 genome.wustl.edu 37 3 9950947 9950947 + Missense_Mutation SNP T T C novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_153480.1 +1 reviewed p.F261S 1.000 40 0% 33 36.4% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL TOP2B 7155 genome.wustl.edu 37 3 25651066 25651068 + In_Frame_Del DEL CTT CTT - novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_001068.2 -1 reviewed p.K1303in_frame_del 0.999:1.000:1.000 - - - - - - - - - NULL OXSM 54995 genome.wustl.edu 37 3 25833400 25833400 + Missense_Mutation SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_017897.2 +1 reviewed p.R297W 0.996 152 0% 169 14.2% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_Thiolase-like RPSA 3921 genome.wustl.edu 37 3 39453847 39453847 + Silent SNP T T C novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_001012321.1 +1 reviewed p.T292 0.530 71 0% 70 35.7% - - - - - NULL CTNNB1 1499 genome.wustl.edu 37 3 41266112 41266112 + Missense_Mutation SNP T T G rs121913228 byCluster TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_001098209.1 +1 reviewed p.S37A 1.000 61 0% 91 51.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL COL7A1 1294 genome.wustl.edu 37 3 48602896 48602896 + Missense_Mutation SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_000094.3 -1 reviewed p.G2825D 0.001 34 0% 34 41.2% - - unknown(0) deleterious(0) - NULL KLHDC8B 200942 genome.wustl.edu 37 3 49213142 49213142 + Silent SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_173546.1 +1 provisional p.L325 0.988 55 0% 60 51.7% - - - - - HMMSmart_Kelch,superfamily_Gal_oxid_central MST1R 4486 genome.wustl.edu 37 3 49928692 49928692 + Silent SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f ENST00000434765 -1 known p.A172V 0.000 37 0% 34 44.1% - - - - - HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) COL8A1 1295 genome.wustl.edu 37 3 99514882 99514882 + Missense_Mutation SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_001850.3 +1 reviewed p.R713W 0.702 49 0% 48 50% - - possibly_damaging(0.836) deleterious(0.02) deleterious(0.703) HMMPfam_C1q,HMMSmart_SM00110,superfamily_TNF-like PIK3CB 5291 genome.wustl.edu 37 3 138374301 138374301 + Missense_Mutation SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_006219.1 -1 provisional p.A1048V 1.000 221 0% 258 41.1% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_PI3Kc,superfamily_Kinase_like PLS1 5357 genome.wustl.edu 37 3 142422826 142422826 + Silent SNP A A G novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_001145319.1 +1 reviewed p.V496 0.221 80 0% 78 15.4% - - - - - PatternScan_ACTININ_2,HMMPfam_CH,HMMSmart_CH,superfamily_Calponin-homology TRPC1 7220 genome.wustl.edu 37 3 142499741 142499741 + Missense_Mutation SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_003304.4 +1 validated p.R243Q 1.000 105 0% 116 39.7% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL AADAC 13 genome.wustl.edu 37 3 151545954 151545954 + Silent SNP T T C novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_001086.2 +1 reviewed p.N398 1.000 91 0% 113 44.2% - - - - - superfamily_alpha/beta-Hydrolases PIK3CA 5290 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A T rs121913279 byCluster TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_006218.2 +1 reviewed p.H1047L 1.000 137 0% 180 45.6% - - possibly_damaging(0.815) tolerated(1) neutral(0.307) HMMSmart_PI3Kc,superfamily_Kinase_like DVL3 1857 genome.wustl.edu 37 3 183888444 183888444 + Silent SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_004423.3 +1 reviewed p.G684 1.000 14 0% 17 47.1% - - - - - NULL SENP2 59343 genome.wustl.edu 37 3 185304233 185304233 + Missense_Mutation SNP C C A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_021627.2 +1 validated p.T11N 1.000 34 0% 66 13.6% - - benign(0.348) deleterious(0) deleterious(0.554) NULL DGKG 1608 genome.wustl.edu 37 3 185997705 185997705 + Nonsense_Mutation SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_001346.2 -1 reviewed p.Q243* 0.954 293 0% 313 39.6% - - - - - HMMSmart_SM00054,PatternScan_EF_HAND_1,superfamily_EF-hand,superfamily_Cysteine-rich domain WDR53 348793 genome.wustl.edu 37 3 196288294 196288294 + Missense_Mutation SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_182627.1 -1 provisional p.A18V 0.908 85 0% 80 46.3% - - benign(0.001) tolerated(1) - HMMSmart_SM00320,superfamily_WD40 repeat-like HTT 3064 genome.wustl.edu 37 4 3156111 3156111 + Missense_Mutation SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_002111.6 +1 reviewed p.P1197L 0.978 61 0% 28 53.6% - - probably_damaging(1) tolerated(0.26) deleterious(0.534) NULL MSANTD1 345222 genome.wustl.edu 37 4 3265632 3265632 + Silent SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f ENST00000341755 +1 known p.T250 0.002 253 0% 249 45% - - - - - NULL KIAA0232 9778 genome.wustl.edu 37 4 6862960 6862960 + Missense_Mutation SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_001100590.1 +1 validated p.R284H 0.980 143 0.7% 134 41% - - probably_damaging(0.984) deleterious(0) deleterious(0.875) NULL PPARGC1A 10891 genome.wustl.edu 37 4 23825936 23825936 + Missense_Mutation SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_013261.3 -1 reviewed p.R282C 1.000 266 0.4% 312 47.4% - - probably_damaging(0.966) deleterious(0) deleterious(0.853) NULL USP46 64854 genome.wustl.edu 37 4 53494169 53494171 + In_Frame_Del DEL CTT CTT - novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_022832.3 -1 validated p.K93in_frame_del 1.000:1.000:1.000 - - - - - - - - - HMMPfam_UCH,superfamily_Cysteine proteinases SHROOM3 57619 genome.wustl.edu 37 4 77661775 77661775 + Missense_Mutation SNP A A G novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_020859.3 +1 validated p.T817A 0.000 65 0% 74 44.6% - - benign(0.009) tolerated(0.4) neutral(0.017) NULL PTPN13 5783 genome.wustl.edu 37 4 87684281 87684281 + Nonsense_Mutation SNP G G T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_080685.2 +1 reviewed p.G1319* 1.000 339 0% 426 38.7% - - - - - NULL DMP1 1758 genome.wustl.edu 37 4 88583159 88583159 + Missense_Mutation SNP G G T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_004407.3 +1 reviewed p.G77C 0.010 126 0% 139 48.9% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_DMP1 HERC3 8916 genome.wustl.edu 37 4 89574213 89574213 + Silent SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_014606.1 +1 provisional p.A219 0.978 70 0% 71 36.6% - - - - - HMMPfam_RCC1,superfamily_RCC1/BLIP-II DDIT4L 115265 genome.wustl.edu 37 4 101109162 101109162 + Missense_Mutation SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_145244.2 -1 provisional p.T85I 1.000 118 0% 131 46.6% - - probably_damaging(0.989) tolerated(0.46) neutral(0.452) HMMPfam_RTP801_C HSPA4L 22824 genome.wustl.edu 37 4 128732695 128732695 + Silent SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_014278.2 +1 provisional p.S494 1.000 103 0% 116 46.6% - - - - - HMMPfam_HSP70,superfamily_SSF100920 ARHGAP10 79658 genome.wustl.edu 37 4 148800422 148800422 + Missense_Mutation SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_024605.3 +1 validated p.C291Y 1.000 211 0% 239 41% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 TRIM2 23321 genome.wustl.edu 37 4 154237081 154237081 + Missense_Mutation SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_015271.3 +1 validated p.S571N 1.000 121 0% 137 38% - - benign(0) tolerated(0.96) - HMMPfam_NHL,superfamily_NHL repeat DDX60L 91351 genome.wustl.edu 37 4 169377257 169377257 + Nonsense_Mutation SNP G G T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_001012967.1 -1 validated p.S257* 0.055 72 0% 61 21.3% - - - - - NULL MFAP3L 9848 genome.wustl.edu 37 4 170913366 170913366 + Silent SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_021647.6 -1 validated p.Y131 0.976 147 0% 151 11.3% - - - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin MTNR1A 4543 genome.wustl.edu 37 4 187455686 187455686 + Silent SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_005958.3 -1 reviewed p.A70 0.015 43 0% 79 40.5% - - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like TRIP13 9319 genome.wustl.edu 37 5 908513 908513 + Missense_Mutation SNP C C A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_004237.3 +1 reviewed p.T268N 0.950 83 0% 99 37.4% - - benign(0.001) tolerated(0.69) neutral(0.002) HMMSmart_SM00382,HMMPfam_AAA,superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH5 1767 genome.wustl.edu 37 5 13727634 13727634 + Silent SNP A A G novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_001369.2 -1 reviewed p.P4005 0.153 127 0% 129 42.6% - - - - - HMMPfam_Dynein_heavy FBXL7 23194 genome.wustl.edu 37 5 15936981 15936981 + Missense_Mutation SNP G G T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_012304.3 +1 reviewed p.G388C 1.000 58 0% 59 57.6% - - probably_damaging(0.986) deleterious(0.04) deleterious(0.783) HMMSmart_SM00367,superfamily_RNI-like LOC729862 729862 genome.wustl.edu 37 5 28927076 28927076 + RNA SNP A A G novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f XR_040872.2 +1 model NULL 0.819 33 0% 37 62.2% - - - - - - NIPBL 25836 genome.wustl.edu 37 5 37007560 37007561 + Frame_Shift_Del DEL AC AC - novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 AC AC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_133433.3 +1 reviewed p.T1409fs 1.000:0.996 - - - - - - - - - superfamily_ARM repeat HEATR7B2 133558 genome.wustl.edu 37 5 41005726 41005726 + Silent SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_173489.4 -1 validated p.H1257 0.000 39 0% 34 44.1% - - - - - superfamily_ARM repeat KIF2A 3796 genome.wustl.edu 37 5 61653537 61653537 + Missense_Mutation SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_001098511.1 +1 validated p.C225Y 1.000 28 0% 38 47.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_KISc,superfamily_SSF52540 PAPD4 167153 genome.wustl.edu 37 5 78915846 78915846 + Missense_Mutation SNP T T C novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_001114393.1 +1 validated p.L56P 0.915 61 0% 76 36.8% - - possibly_damaging(0.931) deleterious(0.03) deleterious(0.742) NULL CMYA5 202333 genome.wustl.edu 37 5 79030553 79030553 + Missense_Mutation SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_153610.3 +1 validated p.E1989K 0.005 200 0% 221 42.1% - - benign(0.139) deleterious(0.02) neutral(0.395) NULL ZFYVE16 9765 genome.wustl.edu 37 5 79733528 79733528 + Missense_Mutation SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_001105251.1 +1 validated p.A342T 0.081 174 0% 135 18.5% - - benign(0.004) tolerated(0.27) neutral(0.034) NULL APC 324 genome.wustl.edu 37 5 112174009 112174009 + Silent SNP T T C novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_000038.4 +1 reviewed p.S906 0.913 153 0% 197 48.2% - - - - - NULL TSSK1B 83942 genome.wustl.edu 37 5 112770059 112770059 + Missense_Mutation SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_032028.3 -1 validated p.R160C 1.000 137 0% 149 43% - - probably_damaging(0.996) tolerated(0.17) deleterious(0.520) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase YTHDC2 64848 genome.wustl.edu 37 5 112876808 112876808 + Nonsense_Mutation SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_022828.3 +1 validated p.Q452* 1.000 311 0% 355 47.6% - - - - - NULL FBN2 2201 genome.wustl.edu 37 5 127595357 127595357 + Silent SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_001999.3 -1 reviewed p.S2843 0.007 172 0% 180 48.9% - - - - - NULL KDM3B 51780 genome.wustl.edu 37 5 137727401 137727401 + Missense_Mutation SNP A A G novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_016604.3 +1 validated p.I694V 1.000 110 0% 116 39.7% - - benign(0.034) tolerated(0.06) neutral(0.325) NULL PCDHA8 56140 genome.wustl.edu 37 5 140222663 140222663 + Missense_Mutation SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_018911.2 +1 reviewed p.G586D 0.005 56 0% 49 57.1% - - benign(0.01) tolerated(0.64) neutral(0.004) superfamily_Cadherin-like PCDHA10 56139 genome.wustl.edu 37 5 140237424 140237424 + Silent SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_018901.2 +1 reviewed p.D597 0.989 31 0% 28 46.4% - - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHB18 54660 genome.wustl.edu 37 5 140615467 140615467 + Silent SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f ENST00000274705 +1 known p.N394 0.989 208 0% 314 43.6% - - - - - HMMSmart_CA,PatternScan_CADHERIN_1,superfamily_Cadherin PCDHGB1 56104 genome.wustl.edu 37 5 140730145 140730145 + Silent SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_018922.2 +1 reviewed p.V106 0.000 154 0% 137 46.7% - - - - - HMMSmart_SM00112,HMMPfam_Cadherin_2,superfamily_Cadherin-like NDST1 3340 genome.wustl.edu 37 5 149914445 149914445 + Silent SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_001543.4 +1 validated p.D371 0.018 54 0% 36 36.1% - - - - - NULL G3BP1 10146 genome.wustl.edu 37 5 151183640 151183640 + Silent SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_005754.2 +1 reviewed p.A463 1.000 72 0% 96 38.5% - - - - - NULL SERPINB9 5272 genome.wustl.edu 37 6 2896423 2896423 + Missense_Mutation SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_004155.4 -1 validated p.A57V 0.011 252 0% 274 42.7% - - benign(0.003) tolerated(1) - HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin TUBB2A 7280 genome.wustl.edu 37 6 3154175 3154175 + Silent SNP G G T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_001069.2 -1 validated p.S420 0.910 126 0% 139 39.6% - - - - - superfamily_Tubulin C-terminal domain-like PHACTR1 221692 genome.wustl.edu 37 6 13206268 13206268 + Missense_Mutation SNP C C A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_030948.1 +1 validated p.L296I 0.991 74 0% 95 18.9% - - benign(0.01) tolerated(0.23) neutral(0.042) NULL ATXN1 6310 genome.wustl.edu 37 6 16306869 16306869 + Silent SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_000332.3 -1 reviewed p.A713 0.835 96 1% 89 40.4% - - - - - NULL PRL 5617 genome.wustl.edu 37 6 22294811 22294811 + Missense_Mutation SNP A A C novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_000948.4 -1 validated p.S11A 0.942 35 2.9% 29 20.7% - - benign(0.004) tolerated(0.79) neutral(0.001) NULL DCDC2 51473 genome.wustl.edu 37 6 24178636 24178636 + Silent SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_016356.3 -1 reviewed p.L416 0.984 288 0.3% 405 45.9% - - - - - NULL BTN3A1 11119 genome.wustl.edu 37 6 26405834 26405834 + Missense_Mutation SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_007048.5 +1 validated p.R15C 0.000 120 0% 154 48.7% - - probably_damaging(0.992) tolerated(0.18) deleterious(0.504) NULL ABT1 29777 genome.wustl.edu 37 6 26598284 26598284 + Silent SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_013375.2 +1 reviewed p.T128 0.442 51 0% 72 45.8% - - - - - superfamily_SSF54928 OR2B2 81697 genome.wustl.edu 37 6 27879737 27879737 + Missense_Mutation SNP C C A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_033057.2 -1 validated p.D121Y 1.000 261 0% 331 40.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like MSH5 4439 genome.wustl.edu 37 6 31721125 31721125 + Missense_Mutation SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_025259.5 +1 reviewed p.R304H 1.000 200 0% 225 44.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MutS_III,HMMSmart_MUTSd,superfamily_DNA_repair_MutS_domIII ZBTB9 221504 genome.wustl.edu 37 6 33423452 33423452 + Missense_Mutation SNP C C G novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_152735.3 +1 validated p.T192S 0.008 71 0% 115 49.6% - - benign(0) tolerated(0.8) neutral(0.001) NULL CUL9 23113 genome.wustl.edu 37 6 43167815 43167815 + Missense_Mutation SNP G G T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_015089.2 +1 validated p.R1102L 0.957 109 0% 134 35.8% - - possibly_damaging(0.847) tolerated(0.11) deleterious(0.597) superfamily_ARM repeat PKHD1 5314 genome.wustl.edu 37 6 51875160 51875160 + Missense_Mutation SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_138694.3 -1 reviewed p.P1900S 1.000 133 0% 164 23.2% - - probably_damaging(1) tolerated(0.15) deleterious(0.741) NULL PGM3 5238 genome.wustl.edu 37 6 83900643 83900643 + Missense_Mutation SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_015599.1 -1 provisional p.T30M 0.088 157 0% 163 54% - - probably_damaging(0.99) tolerated(0.33) neutral(0.466) NULL BEND3 57673 genome.wustl.edu 37 6 107390739 107390739 + Silent SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_001080450.2 -1 validated p.D552 1.000 30 0% 27 33.3% - - - - - NULL MICAL1 64780 genome.wustl.edu 37 6 109774946 109774947 + Frame_Shift_Del DEL GA GA - novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 GA GA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_022765.3 -1 validated p.R121fs 0.999:0.992 - - - - - - - - - HMMPfam_FAD_binding_3,superfamily_FAD/NAD(P)-binding domain CDC40 51362 genome.wustl.edu 37 6 110530466 110530466 + Silent SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f ENST00000431461 +1 known p.A116V 0.000 69 0% 60 10% - - - - - NULL AMD1 262 genome.wustl.edu 37 6 111213992 111213992 + Missense_Mutation SNP A A G novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_001634.4 +1 reviewed p.N224D 1.000 219 0.5% 271 40.2% - - benign(0) tolerated(1) - HMMPfam_SAM_decarbox,superfamily_S-AdenosylMet_decarbase_core MAP7 9053 genome.wustl.edu 37 6 136682192 136682192 + Missense_Mutation SNP T T C novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_003980.3 -1 reviewed p.E551G 0.778 15 0% 14 64.3% - - unknown(0) deleterious(0.02) - HMMPfam_MAP7 HECA 51696 genome.wustl.edu 37 6 139487523 139487523 + Missense_Mutation SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_016217.2 +1 reviewed p.C125Y 0.951 129 0.8% 178 27.5% - - benign(0) tolerated(1) - NULL HIVEP2 3097 genome.wustl.edu 37 6 143092440 143092440 + Silent SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_006734.3 -1 provisional p.L1146 0.090 61 0% 79 48.1% - - - - - NULL TAB2 23118 genome.wustl.edu 37 6 149699613 149699613 + Missense_Mutation SNP G G T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_015093.4 +1 reviewed p.G188C 1.000 408 0.2% 409 38.1% - - possibly_damaging(0.845) tolerated(0.05) deleterious(0.669) NULL ZC3H12D 340152 genome.wustl.edu 37 6 149777858 149777858 + Silent SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f ENST00000458251 -1 known p.R50* 0.014 30 0% 32 50% - - - - - NULL IGF2R 3482 genome.wustl.edu 37 6 160492998 160492998 + Nonsense_Mutation SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_000876.2 +1 reviewed p.W1500* 0.997 175 0% 133 42.9% - - - - - HMMPfam_CIMR,superfamily_Mannose 6-phosphate receptor domain MIOS 54468 genome.wustl.edu 37 7 7612370 7612370 + Silent SNP A A G novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_019005.3 +1 validated p.V88 0.845 170 0% 221 26.2% - - - - - superfamily_WD40 repeat-like DNAH11 8701 genome.wustl.edu 37 7 21603811 21603811 + Silent SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_003777.3 +1 reviewed p.L330 0.004 84 0% 86 36% - - - - - HMMPfam_DHC_N1 DNAH11 8701 genome.wustl.edu 37 7 21784132 21784132 + Missense_Mutation SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_003777.3 +1 reviewed p.R2751H 1.000 261 0% 268 43.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_P-loop containing nucleoside triphosphate hydrolases STK31 56164 genome.wustl.edu 37 7 23751758 23751758 + Missense_Mutation SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_031414.3 +1 reviewed p.D31N 0.998 115 0% 135 43% - - benign(0) tolerated(1) - HMMPfam_TUDOR AOAH 313 genome.wustl.edu 37 7 36661365 36661365 + Missense_Mutation SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_001637.3 -1 reviewed p.R202W 0.999 209 0% 220 44.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL PKD1L1 168507 genome.wustl.edu 37 7 47886656 47886656 + Silent SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_138295.2 -1 reviewed p.G1658 0.851 52 0% 80 48.7% - - - - - NULL ABCA13 154664 genome.wustl.edu 37 7 48390246 48390246 + Missense_Mutation SNP T T C novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_152701.3 +1 reviewed p.L3404P 0.005 120 0% 122 32% - - benign(0.318) - - NULL RABGEF1 27342 genome.wustl.edu 37 7 66270295 66270295 + Missense_Mutation SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_014504.2 +1 validated p.R330H 1.000 170 0% 181 39.2% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_VPS9,HMMSmart_VPS9,superfamily_SSF109993 SEMA3C 10512 genome.wustl.edu 37 7 80546024 80546024 + Missense_Mutation SNP G G T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_006379.2 -1 validated p.P25H 1.000 171 0% 220 10.5% - - possibly_damaging(0.654) deleterious(0) deleterious(0.674) superfamily_Sema POP7 10248 genome.wustl.edu 37 7 100304521 100304521 + Missense_Mutation SNP G G T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_005837.2 +1 validated p.R23M 1.000 34 0% 37 59.5% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL DUS4L 11062 genome.wustl.edu 37 7 107216853 107216853 + Splice_Site SNP G G T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f ENST00000422290 +1 known e4-1 1.000 95 0% 91 38.5% - - - - - - LAMB1 3912 genome.wustl.edu 37 7 107638831 107638831 + Missense_Mutation SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_002291.2 -1 reviewed p.R107H 1.000 113 0% 93 39.8% - - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Laminin_N,HMMSmart_SM00136 LAMB4 22798 genome.wustl.edu 37 7 107744960 107744960 + Missense_Mutation SNP C C A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_007356.2 -1 validated p.Q325H 0.001 131 0% 122 45.1% - - benign(0) tolerated(0.48) neutral(0.011) HMMPfam_Laminin_EGF,HMMSmart_SM00180,PatternScan_EGF_LAM_1,superfamily_EGF/Laminin C7orf53 286006 genome.wustl.edu 37 7 112127072 112127072 + Missense_Mutation SNP C C A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_001134468.1 +1 validated p.S74R 1.000 218 0% 206 23.8% - - benign(0.418) deleterious(0) deleterious(0.580) NULL FSCN3 29999 genome.wustl.edu 37 7 127236393 127236393 + Missense_Mutation SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_020369.1 +1 provisional p.R285C 0.171 323 0% 331 38.1% - - benign(0) tolerated(0.32) neutral(0.024) superfamily_Actin_crosslink,HMMPfam_Fascin SLC13A4 26266 genome.wustl.edu 37 7 135376066 135376066 + Silent SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_012450.2 -1 validated p.N442 0.000 123 0% 110 43.6% - - - - - HMMPfam_Na_sulph_symp DENND2A 27147 genome.wustl.edu 37 7 140219504 140219504 + Nonsense_Mutation SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_015689.3 -1 validated p.R976* 1.000 70 0% 70 42.9% - - - - - NULL MGAM 8972 genome.wustl.edu 37 7 141763355 141763355 + Silent SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_004668.2 +1 reviewed p.D1438 0.011 30 0% 30 46.7% - - - - - HMMPfam_Glyco_hydro_31 TRBV30 28557 genome.wustl.edu 37 7 142510336 142510336 + Silent SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f ENST00000417977 -1 known p.Q90 0.007 22 0% 25 28% - - - - - HMMPfam_V-set,superfamily_SSF48726 ASIC3 9311 genome.wustl.edu 37 7 150749784 150749784 + Missense_Mutation SNP A A G novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_020322.2 +1 reviewed p.M528V 0.000 161 0% 153 13.7% - - unknown(0) - - NULL INSIG1 3638 genome.wustl.edu 37 7 155099995 155099995 + Missense_Mutation SNP C C A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_198336.2 +1 reviewed p.P307Q 0.000 121 0.8% 112 43.8% - - probably_damaging(0.968) deleterious(0) deleterious(0.855) NULL PTPRN2 5799 genome.wustl.edu 37 7 157985110 157985110 + Missense_Mutation SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_002847.3 -1 reviewed p.R153H 0.827 23 0% 24 33.3% - - probably_damaging(0.995) deleterious(0.01) deleterious(0.863) NULL ARHGEF10 9639 genome.wustl.edu 37 8 1808128 1808128 + Missense_Mutation SNP A A G novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_014629.2 +1 reviewed p.M87V 0.000 108 0% 105 41.9% - - benign(0) tolerated(0.08) neutral(0.300) NULL MTMR7 9108 genome.wustl.edu 37 8 17188770 17188770 + Missense_Mutation SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_004686.4 -1 reviewed p.A252T 1.000 81 0% 77 26% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Myotub-related,superfamily_(Phosphotyrosine protein) phosphatases II TNFRSF10D 8793 genome.wustl.edu 37 8 23012464 23012464 + Missense_Mutation SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_003840.3 -1 reviewed p.R60Q 0.000 64 0% 71 59.2% - - benign(0.373) tolerated(0.43) neutral(0.133) NULL FZD3 7976 genome.wustl.edu 37 8 28360714 28360714 + Missense_Mutation SNP A A G rs61754565 TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_017412.2 +1 reviewed p.M62V 1.000 117 0% 110 41.8% - - benign(0.003) tolerated(1) - superfamily_Frizzled cysteine-rich domain,HMMPfam_Fz,HMMSmart_SM00063 ADAM9 8754 genome.wustl.edu 37 8 38874739 38874739 + Nonsense_Mutation SNP G G T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_003816.2 +1 reviewed p.G138* 1.000 178 0% 164 12.8% - - - - - HMMPfam_Pep_M12B_propep RP1 6101 genome.wustl.edu 37 8 55533929 55533929 + Missense_Mutation SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_006269.1 +1 reviewed p.A135T 0.074 28 0% 28 50% - - benign(0) tolerated(0.66) neutral(0.003) NULL TGS1 96764 genome.wustl.edu 37 8 56699505 56699505 + Missense_Mutation SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_024831.6 +1 validated p.E350K 0.004 174 0% 152 43.4% - - benign(0.002) tolerated(0.07) neutral(0.319) NULL CNBD1 168975 genome.wustl.edu 37 8 87917357 87917357 + Missense_Mutation SNP A A T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_173538.2 +1 provisional p.Q69H 0.999 53 0% 43 58.1% - - probably_damaging(0.991) tolerated(0.16) deleterious(0.504) NULL OSGIN2 734 genome.wustl.edu 37 8 90937735 90937737 + In_Frame_Del DEL GAG GAG - novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 GAG GAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_001126111.1 +1 validated p.G545in_frame_del 1.000:1.000:1.000 - - - - - - - - - NULL CPQ 10404 genome.wustl.edu 37 8 97797184 97797184 + Missense_Mutation SNP G G T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_016134.2 +1 provisional p.G20V 0.959 422 0% 404 40.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL SPAG1 6674 genome.wustl.edu 37 8 101174534 101174534 + Missense_Mutation SNP T T C novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_003114.3 +1 reviewed p.L9S 0.646 49 0% 58 37.9% - - benign(0.05) deleterious(0.01) neutral(0.409) NULL ZFP41 286128 genome.wustl.edu 37 8 144332508 144332508 + Silent SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_173832.3 +1 provisional p.H165 1.000 114 0% 111 41.4% - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 GLI4 2738 genome.wustl.edu 37 8 144351679 144351679 + Missense_Mutation SNP G G T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_138465.3 +1 validated p.G38V 0.001 34 0% 35 51.4% - - probably_damaging(1) tolerated(0.12) deleterious(0.760) NULL SH3GL2 6456 genome.wustl.edu 37 9 17789460 17789460 + Missense_Mutation SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_003026.2 +1 validated p.P179L 1.000 147 0% 173 41.6% - - possibly_damaging(0.885) deleterious(0.01) deleterious(0.752) HMMPfam_BAR,HMMSmart_SM00721 ADAMTSL1 92949 genome.wustl.edu 37 9 18639251 18639251 + Splice_Site SNP G G T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_001040272.4 +1 validated e7-1 1.000 138 0% 168 41.1% - - - - - - DENND4C 55667 genome.wustl.edu 37 9 19346463 19346463 + Silent SNP T T C novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_017925.4 +1 provisional p.S947 0.014 134 0% 156 41.7% - - - - - NULL TLN1 7094 genome.wustl.edu 37 9 35698486 35698486 + Missense_Mutation SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_006289.3 -1 reviewed p.A2402V 1.000 25 0% 27 29.6% - - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_I_LWEQ,HMMSmart_ILWEQ,superfamily_SSF109885 FRMPD1 22844 genome.wustl.edu 37 9 37744397 37744398 + Frame_Shift_Ins INS - - T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_014907.2 +1 validated p.S791fs 0.012:0.069 - - - - - - - - - NULL C9orf129 445577 genome.wustl.edu 37 9 96097804 96097804 + Missense_Mutation SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_001098808.1 -1 provisional p.E73K 1.000 73 1.4% 86 45.3% - - possibly_damaging(0.891) deleterious(0.02) deleterious(0.734) NULL KLF4 9314 genome.wustl.edu 37 9 110249444 110249444 + Nonsense_Mutation SNP C C A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_004235.4 -1 validated p.E377* 1.000 71 0% 62 27.4% - - - - - NULL GSN 2934 genome.wustl.edu 37 9 124064372 124064372 + Silent SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_000177.4 +1 reviewed p.G92 0.510 65 0% 62 53.2% - - - - - HMMSmart_SM00262,HMMPfam_Gelsolin,superfamily_Actin depolymerizing proteins FPGS 2356 genome.wustl.edu 37 9 130573287 130573287 + Missense_Mutation SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_004957.4 +1 reviewed p.A451T 0.993 16 0% 11 45.5% - - benign(0) deleterious(0.03) neutral(0.364) HMMPfam_Mur_ligase_C COQ4 51117 genome.wustl.edu 37 9 131095766 131095766 + Missense_Mutation SNP C C A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_016035.3 +1 validated p.L214M 1.000 39 0% 69 37.7% - - probably_damaging(0.985) tolerated(0.05) deleterious(0.777) HMMPfam_Coq4 LAMC3 10319 genome.wustl.edu 37 9 133917079 133917079 + Missense_Mutation SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_006059.3 +1 reviewed p.R447C 0.021 66 0% 57 47.4% - - probably_damaging(0.998) deleterious(0.04) deleterious(0.823) HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,superfamily_SSF57196 UPF2 26019 genome.wustl.edu 37 10 11990443 11990443 + Missense_Mutation SNP T T A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_015542.2 -1 reviewed p.E1033D 0.998 84 0% 103 30.1% - - benign(0) tolerated(0.67) neutral(0.003) NULL PTER 9317 genome.wustl.edu 37 10 16528606 16528606 + Missense_Mutation SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_001001484.1 +1 validated p.H230Y 1.000 224 0% 275 41.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PTE,superfamily_Metallo-dependent hydrolases ST8SIA6 338596 genome.wustl.edu 37 10 17369027 17369027 + Silent SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f ENST00000440449 -1 known p.R28* 0.289 117 0% 135 29.6% - - - - - HMMPfam_Glyco_transf_29 LOC645954 645954 genome.wustl.edu 37 10 31000309 31000310 + RNA INS - - T rs11450745 byCluster;by1000genomes TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f XR_017086.3 +1 model NULL 1.000:1.000 - - - - - - - - - - ITGB1 3688 genome.wustl.edu 37 10 33208849 33208849 + Missense_Mutation SNP T T C novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_033667.2 -1 reviewed p.H478R 0.995 279 0% 258 46.9% - - possibly_damaging(0.661) tolerated(0.16) neutral(0.293) NULL DRGX 644168 genome.wustl.edu 37 10 50574230 50574230 + Silent SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_001080520.1 -1 provisional p.A246 0.000 66 0% 54 42.6% - - - - - NULL ANK3 288 genome.wustl.edu 37 10 61835608 61835608 + Silent SNP T T C novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_020987.2 -1 reviewed p.S1677 0.997 275 0.4% 231 30.3% - - - - - NULL MYPN 84665 genome.wustl.edu 37 10 69934351 69934351 + Silent SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_032578.2 +1 validated p.L834 0.998 103 0% 116 44.8% - - - - - NULL LRRC20 55222 genome.wustl.edu 37 10 72136224 72136224 + Silent SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_207119.1 -1 validated p.S22 0.999 112 0% 112 46.4% - - - - - NULL CDH23 64072 genome.wustl.edu 37 10 73562691 73562691 + Missense_Mutation SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_022124.5 +1 reviewed p.P2507S 1.000 80 0% 82 48.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00112,superfamily_Cadherin-like PTEN 5728 genome.wustl.edu 37 10 89653796 89653798 + In_Frame_Del DEL ATT ATT - novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 ATT ATT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f ENST00000371953 +1 known p.I33in_frame_del 1.000:1.000:1.000 - - - - - - - - - HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II ACTA2 59 genome.wustl.edu 37 10 90695022 90695022 + Silent SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_001141945.1 -1 reviewed p.Y364 0.841 153 0% 221 32.6% - - - - - HMMPfam_Actin,HMMSmart_SM00268,PatternScan_ACTINS_2,superfamily_Actin-like ATPase domain TNKS2 80351 genome.wustl.edu 37 10 93615445 93615445 + Missense_Mutation SNP G G T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_025235.3 +1 validated p.K996N 1.000 49 0% 58 34.5% - - possibly_damaging(0.556) deleterious(0.01) deleterious(0.595) HMMPfam_PARP,superfamily_SSF56399 KIF11 3832 genome.wustl.edu 37 10 94393494 94393494 + Missense_Mutation SNP T T C novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_004523.3 +1 reviewed p.M606T 0.201 136 0% 177 49.2% - - benign(0.03) tolerated(0.58) neutral(0.007) NULL PIK3AP1 118788 genome.wustl.edu 37 10 98469724 98469724 + Silent SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_152309.2 -1 validated p.C10 0.082 63 0% 65 58.5% - - - - - NULL ANKRD2 26287 genome.wustl.edu 37 10 99338293 99338293 + Silent SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_020349.2 +1 validated p.A156 0.005 7 0.000 8 0.500 - - - - - HMMSmart_SM00248,superfamily_Ankyrin repeat PPRC1 23082 genome.wustl.edu 37 10 103906833 103906833 + Nonsense_Mutation SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_015062.3 +1 reviewed p.Q1362* 0.982 90 0% 132 12.1% - - - - - NULL GPAM 57678 genome.wustl.edu 37 10 113919686 113919686 + Missense_Mutation SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_020918.4 -1 validated p.E629K 1.000 121 0% 123 54.5% - - probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL GFRA1 2674 genome.wustl.edu 37 10 118030540 118030540 + Missense_Mutation SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_005264.4 -1 reviewed p.S43N 1.000 45 0% 38 55.3% - - probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_GDNF,superfamily_GDNF receptor-like (Pfam 02351) VAX1 11023 genome.wustl.edu 37 10 118891747 118891747 + Silent SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_199131.2 -1 reviewed p.S178 0.000 30 0% 35 37.1% - - - - - NULL MKI67 4288 genome.wustl.edu 37 10 129904780 129904780 + Missense_Mutation SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_002417.4 -1 reviewed p.T1775M 0.000 297 0% 366 29.8% - - probably_damaging(1) tolerated(0.11) deleterious(0.772) HMMPfam_K167R C10orf91 170393 genome.wustl.edu 37 10 134261361 134261361 + Silent SNP G G T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_173541.2 +1 validated p.A78 0.000 35 0% 45 35.6% - - - - - NULL APBB1 322 genome.wustl.edu 37 11 6422803 6422803 + Splice_Site SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_001164.2 -1 reviewed e9+1 1.000 88 0% 104 28.8% - - - - - - SPON1 10418 genome.wustl.edu 37 11 14101497 14101497 + Missense_Mutation SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_006108.2 +1 validated p.A202V 0.994 86 0% 86 32.6% - - possibly_damaging(0.543) deleterious(0.01) deleterious(0.590) NULL SPON1 10418 genome.wustl.edu 37 11 14287139 14287139 + Missense_Mutation SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f ENST00000310358 +1 known p.R776H 1.000 40 0% 70 52.9% - - unknown(0) - - HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat ABCC8 6833 genome.wustl.edu 37 11 17452412 17452412 + Missense_Mutation SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_000352.3 -1 reviewed p.P589L 1.000 164 0% 168 41.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain NAT10 55226 genome.wustl.edu 37 11 34160759 34160759 + Missense_Mutation SNP T T G novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_024662.2 +1 validated p.S745A 1.000 229 0% 189 38.6% - - benign(0.28) deleterious(0) deleterious(0.530) superfamily_Acyl-CoA N-acyltransferases (Nat) TTC17 55761 genome.wustl.edu 37 11 43419565 43419565 + Silent SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_018259.5 +1 validated p.H320 1.000 144 0% 132 45.5% - - - - - HMMPfam_TPR_1,HMMSmart_TPR,superfamily_SSF48452 GYLTL1B 120071 genome.wustl.edu 37 11 45948422 45948422 + Missense_Mutation SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_152312.3 +1 validated p.R442Q 1.000 24 0% 19 47.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL SPRYD5 84767 genome.wustl.edu 37 11 55652996 55652996 + Missense_Mutation SNP G G T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_032681.3 +1 validated p.G31V 1.000 132 0% 154 54.5% - - probably_damaging(1) tolerated(0.07) deleterious(0.819) HMMSmart_SM00184,PatternScan_ZF_RING_1,HMMPfam_zf-C3HC4,superfamily_RING/U-box TNKS1BP1 85456 genome.wustl.edu 37 11 57088122 57088122 + Silent SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_033396.2 -1 validated p.L53 1.000 15 0% 22 54.5% - - - - - NULL DPF2 5977 genome.wustl.edu 37 11 65111216 65111216 + Missense_Mutation SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_006268.3 +1 reviewed p.R156W 1.000 27 0% 29 51.7% - - benign(0.001) tolerated(0.07) neutral(0.319) NULL SUV420H1 51111 genome.wustl.edu 37 11 67939116 67939116 + Missense_Mutation SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f ENST00000323599 -1 known p.R228K 1.000 84 0% 89 36% - - - - - superfamily_SET domain USP35 57558 genome.wustl.edu 37 11 77921120 77921120 + Missense_Mutation SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_020798.2 +1 provisional p.T740I 0.000 186 0% 187 45.5% - - unknown(0) deleterious(0.02) - HMMPfam_UCH,superfamily_Cysteine proteinases ODZ4 26011 genome.wustl.edu 37 11 78412983 78412983 + Nonsense_Mutation SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_001098816.2 -1 validated p.R1559* 1.000 99 0% 94 24.5% - - - - - HMMPfam_NHL,superfamily_SSF101898,superfamily_TolB_C GRM5 2915 genome.wustl.edu 37 11 88300813 88300815 + In_Frame_Del DEL TCT TCT - novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 TCT TCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_001143831.2 -1 reviewed p.K679in_frame_del 1.000:1.000:1.000 - - - - - - - - - HMMPfam_7tm_3 C11orf87 399947 genome.wustl.edu 37 11 109294373 109294373 + Missense_Mutation SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_207645.3 +1 validated p.A5V 0.998 33 0% 22 36.4% - - probably_damaging(0.959) tolerated(1) neutral(0.403) NULL APOA1 335 genome.wustl.edu 37 11 116707771 116707771 + Missense_Mutation SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_000039.1 -1 reviewed p.S49N 0.021 49 0% 43 46.5% - - benign(0.155) tolerated(0.08) neutral(0.314) superfamily_SSF47162 TBCEL 219899 genome.wustl.edu 37 11 120957679 120957679 + Missense_Mutation SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_001130047.1 +1 validated p.M383I 1.000 198 0% 193 46.1% - - benign(0.002) tolerated(0.15) neutral(0.241) superfamily_SSF54236 TECTA 7007 genome.wustl.edu 37 11 121023729 121023729 + Silent SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_005422.2 +1 reviewed p.N1415 0.968 62 0% 72 16.7% - - - - - superfamily_Serine proterase inhibitors,HMMSmart_SM00181,PatternScan_EGF_2,HMMPfam_TIL SRPR 6734 genome.wustl.edu 37 11 126136085 126136085 + Missense_Mutation SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_003139.3 -1 reviewed p.P310L 1.000 162 0% 215 18.6% - - benign(0.018) tolerated(0.12) neutral(0.261) NULL OPCML 4978 genome.wustl.edu 37 11 132812851 132812851 + Missense_Mutation SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_002545.3 -1 reviewed p.T46M 1.000 47 0% 33 33.3% - - probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin NCAPD3 23310 genome.wustl.edu 37 11 134051035 134051035 + Silent SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_015261.2 -1 validated p.E832 0.037 52 0% 47 53.2% - - - - - superfamily_ARM-type_fold B4GALNT3 283358 genome.wustl.edu 37 12 665930 665930 + Missense_Mutation SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_173593.3 +1 validated p.R760C 0.002 16 0% 18 44.4% - - possibly_damaging(0.906) deleterious(0.01) deleterious(0.765) NULL CCND2 894 genome.wustl.edu 37 12 4409088 4409088 + Nonsense_Mutation SNP C C G novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_001759.3 +1 validated p.Y261* 1.000 134 0% 133 51.1% - - - - - HMMPfam_Cyclin_C CD9 928 genome.wustl.edu 37 12 6341821 6341821 + Missense_Mutation SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_001769.2 +1 reviewed p.G67S 0.995 8 0.000 8 0.500 - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Tetraspannin,PatternScan_TM4_1 NCAPD2 9918 genome.wustl.edu 37 12 6640140 6640140 + Missense_Mutation SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_014865.3 +1 validated p.P1340S 0.945 120 0% 120 41.7% - - probably_damaging(1) tolerated(0.15) deleterious(0.741) NULL OLR1 4973 genome.wustl.edu 37 12 10319465 10319465 + Silent SNP T T C novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_002543.3 -1 reviewed p.Q90 0.000 206 0% 293 27.6% - - - - - NULL HEBP1 50865 genome.wustl.edu 37 12 13128270 13128270 + Missense_Mutation SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_015987.3 -1 reviewed p.R181H 0.999 119 0% 157 40.8% - - possibly_damaging(0.48) deleterious(0.01) deleterious(0.565) HMMPfam_SOUL KRAS 3845 genome.wustl.edu 37 12 25380275 25380275 + Missense_Mutation SNP T T G rs17851045 byCluster TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_033360.2 -1 reviewed p.Q61H 1.000 59 0% 96 43.8% - - benign(0.006) deleterious(0.01) neutral(0.406) HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases PKP2 5318 genome.wustl.edu 37 12 32975444 32975446 + In_Frame_Del DEL TTG TTG - novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 TTG TTG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_004572.3 -1 reviewed p.N642in_frame_del 0.920:0.919:0.688 - - - - - - - - - superfamily_ARM repeat MLL2 8085 genome.wustl.edu 37 12 49416428 49416428 + Missense_Mutation SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_003482.3 -1 validated p.G5428D 1.000 230 0% 247 42.1% - - unknown(0) - - HMMPfam_SET,HMMSmart_SM00317,superfamily_SET domain SLC4A8 9498 genome.wustl.edu 37 12 51888848 51888848 + Silent SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_001039960.1 +1 validated p.L963 0.297 171 0% 205 46.3% - - - - - NULL KRT83 3889 genome.wustl.edu 37 12 52711516 52711516 + Silent SNP G G A rs186866078 by1000genomes TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_002282.3 -1 reviewed p.N233 0.030 221 0% 308 48.1% - - - - - HMMPfam_Filament NCKAP1L 3071 genome.wustl.edu 37 12 54902244 54902244 + Silent SNP G G C novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_005337.4 +1 reviewed p.L145 1.000 366 0% 434 48.8% - - - - - HMMPfam_Nckap1 MYL6B 140465 genome.wustl.edu 37 12 56549385 56549385 + Missense_Mutation SNP G G T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f ENST00000405661 +1 known p.G177C 0.959 60 0% 58 32.8% - - - - - NULL IFNG 3458 genome.wustl.edu 37 12 68553345 68553345 + Silent SNP A A G novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_000619.2 -1 reviewed p.G17 0.033 41 0% 46 45.7% - - - - - HMMPfam_IFN-gamma MDM1 56890 genome.wustl.edu 37 12 68709980 68709980 + Silent SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_017440.4 -1 reviewed p.T353 0.954 69 0% 88 44.3% - - - - - NULL ACSS3 79611 genome.wustl.edu 37 12 81537007 81537007 + Missense_Mutation SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_024560.2 +1 validated p.G301D 1.000 137 0% 139 20.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_AMP-binding,PatternScan_AMP_BINDING,superfamily_Acetyl-CoA synthetase-like DAO 1610 genome.wustl.edu 37 12 109278864 109278864 + Missense_Mutation SNP C C A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_001917.4 +1 reviewed p.Q28K 0.248 85 0% 103 62.1% - - benign(0) tolerated(0.8) neutral(0.001) HMMPfam_DAO,superfamily_Nucleotide-binding domain ATP2A2 488 genome.wustl.edu 37 12 110778612 110778612 + Missense_Mutation SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_170665.3 +1 reviewed p.R637H 1.000 81 0% 113 44.2% - - probably_damaging(0.98) deleterious(0.03) deleterious(0.788) HMMPfam_Hydrolase,superfamily_HAD-like,superfamily_Calcium ATPase transmembrane domain M PLBD2 196463 genome.wustl.edu 37 12 113824842 113824842 + Silent SNP C C A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_173542.3 +1 validated p.R463 0.982 93 0% 110 43.6% - - - - - HMMPfam_Phospholip_B NOS1 4842 genome.wustl.edu 37 12 117718666 117718666 + Missense_Mutation SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_000620.2 -1 reviewed p.A463V 1.000 52 0% 72 41.7% - - probably_damaging(0.996) tolerated(0.15) deleterious(0.703) HMMPfam_NO_synthase,superfamily_Nitric oxide (NO) synthase oxygenase domain KSR2 283455 genome.wustl.edu 37 12 117909047 117909047 + Silent SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_173598.4 -1 validated p.G858 0.999 84 0% 102 46.1% - - - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase DNAH10 196385 genome.wustl.edu 37 12 124323046 124323046 + Missense_Mutation SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_207437.3 +1 validated p.C1531Y 1.000 117 0% 108 49.1% - - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_DHC_N2 EP400 57634 genome.wustl.edu 37 12 132514661 132514661 + Silent SNP C C A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_015409.3 +1 validated p.T1903 1.000 88 0% 93 33.3% - - - - - HMMPfam_Helicase_C,HMMSmart_HELICc,superfamily_SSF52540 MTMR6 9107 genome.wustl.edu 37 13 25832812 25832812 + Missense_Mutation SNP T T C novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_004685.3 -1 validated p.R249G 1.000 54 0% 71 42.3% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Myotub-related,superfamily_(Phosphotyrosine protein) phosphatases II FREM2 341640 genome.wustl.edu 37 13 39262222 39262222 + Silent SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_207361.4 +1 reviewed p.G247 0.000 47 0% 26 53.8% - - - - - NULL KIAA0564 23078 genome.wustl.edu 37 13 42357946 42357946 + Missense_Mutation SNP G G T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_015058.1 -1 validated p.F754L 1.000 105 0% 102 41.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_P-loop containing nucleoside triphosphate hydrolases KLF12 11278 genome.wustl.edu 37 13 74289618 74289618 + Missense_Mutation SNP C C A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_007249.4 -1 validated p.R305L 1.000 105 0% 123 43.9% - - benign(0.254) tolerated(0.15) neutral(0.267) NULL TBC1D4 9882 genome.wustl.edu 37 13 75873473 75873473 + Missense_Mutation SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_014832.2 -1 validated p.S1050L 1.000 102 0% 97 18.6% - - possibly_damaging(0.928) tolerated(0.21) neutral(0.419) HMMPfam_TBC,HMMSmart_SM00164,superfamily_Ypt/Rab-GAP domain of gyp1p FAM70B 348013 genome.wustl.edu 37 13 114471915 114471915 + Silent SNP C C A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f ENST00000375348 +1 known p.T62 0.001 35 0% 38 39.5% - - - - - NULL OR4K2 390431 genome.wustl.edu 37 14 20344740 20344740 + Missense_Mutation SNP A A G novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_001005501.1 +1 provisional p.H105R 0.688 346 0% 395 39.7% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like PRMT5 10419 genome.wustl.edu 37 14 23393582 23393582 + Missense_Mutation SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_006109.3 -1 validated p.A366T 1.000 159 0% 249 10.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PRMT5,superfamily_S-adenosyl-L-methionine-dependent methyltransferases MIPOL1 145282 genome.wustl.edu 37 14 37736237 37736237 + Missense_Mutation SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_138731.5 +1 validated p.M38I 0.002 90 1.1% 86 19.8% - - possibly_damaging(0.574) tolerated(0.62) neutral(0.201) NULL MGAT2 4247 genome.wustl.edu 37 14 50089047 50089047 + Missense_Mutation SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_002408.3 +1 reviewed p.T354I 1.000 181 0% 182 12.1% - - possibly_damaging(0.948) deleterious(0) deleterious(0.836) HMMPfam_MGAT2,superfamily_Nucleotide-diphospho-sugar transferases GALNTL1 57452 genome.wustl.edu 37 14 69818849 69818849 + Silent SNP C C A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_020692.2 +1 validated p.A547 0.591 84 0% 69 10.1% - - - - - HMMPfam_Ricin_B_lectin,HMMSmart_SM00458,superfamily_Ricin B-like lectins PNMA1 9240 genome.wustl.edu 37 14 74179647 74179647 + Silent SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_006029.4 -1 validated p.A232 0.853 90 0% 107 46.7% - - - - - NULL ISM2 145501 genome.wustl.edu 37 14 77942165 77942165 + Missense_Mutation SNP C C A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_199296.2 -1 reviewed p.D497Y 0.000 45 0% 35 54.3% - - possibly_damaging(0.467) tolerated(0.07) deleterious(0.473) HMMPfam_AMOP,HMMSmart_SM00723 PTPN21 11099 genome.wustl.edu 37 14 88936361 88936361 + Missense_Mutation SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_007039.3 -1 reviewed p.A969T 1.000 54 0% 61 42.6% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Y_phosphatase,HMMSmart_SM00194,superfamily_(Phosphotyrosine protein) phosphatases II C14orf102 55051 genome.wustl.edu 37 14 90778853 90778853 + Missense_Mutation SNP G G A rs187130409 by1000genomes TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_017970.2 -1 validated p.R148C 0.001 210 0% 238 47.1% - - probably_damaging(0.994) deleterious(0.04) deleterious(0.801) NULL EVL 51466 genome.wustl.edu 37 14 100604092 100604092 + Frame_Shift_Del DEL A A - novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_016337.2 +1 validated p.K350fs 0.968 - - - - - - - - - NULL CYFIP1 23191 genome.wustl.edu 37 15 22997828 22997828 + Missense_Mutation SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_014608.2 +1 validated p.A1025V 1.000 196 0% 179 18.4% - - probably_damaging(1) tolerated(0.14) deleterious(0.750) HMMPfam_FragX_IP RYR3 6263 genome.wustl.edu 37 15 34018675 34018675 + Missense_Mutation SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_001036.3 +1 validated p.S2334N 1.000 25 0% 18 66.7% - - probably_damaging(0.998) - - NULL BAHD1 22893 genome.wustl.edu 37 15 40752064 40752064 + Silent SNP C C A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_014952.3 +1 validated p.G467 0.976 23 0% 26 61.5% - - - - - NULL FAM82A2 55177 genome.wustl.edu 37 15 41030190 41030190 + Missense_Mutation SNP G G C novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_018145.1 -1 provisional p.H366Q 1.000 268 0% 341 39% - - probably_damaging(0.964) deleterious(0.03) deleterious(0.771) superfamily_TPR-like ATP8B4 79895 genome.wustl.edu 37 15 50271881 50271881 + Missense_Mutation SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_024837.2 -1 validated p.G323R 1.000 338 0% 365 41.9% - - probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_E1-E2_ATPase,superfamily_SSF81665 LEO1 123169 genome.wustl.edu 37 15 52251016 52251016 + Missense_Mutation SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_138792.2 -1 provisional p.D390N 1.000 153 0% 185 42.7% - - probably_damaging(0.958) deleterious(0) deleterious(0.846) HMMPfam_Leo1 MYO5C 55930 genome.wustl.edu 37 15 52567772 52567772 + Missense_Mutation SNP T T C novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_018728.2 -1 validated p.N198S 1.000 125 0.8% 164 48.2% - - possibly_damaging(0.547) tolerated(1) neutral(0.185) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases HERC1 8925 genome.wustl.edu 37 15 63986307 63986307 + Silent SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_003922.3 -1 reviewed p.L1844 1.000 60 0% 70 47.1% - - - - - NULL SLC24A1 9187 genome.wustl.edu 37 15 65917240 65917240 + Silent SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_004727.2 +1 validated p.S274 0.000 91 0% 155 52.3% - - - - - NULL MEGF11 84465 genome.wustl.edu 37 15 66249927 66249927 + Silent SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_032445.2 -1 validated p.C415 0.984 32 0% 26 30.8% - - - - - HMMSmart_SM00180,HMMSmart_SM00181 MPI 4351 genome.wustl.edu 37 15 75189853 75189853 + Missense_Mutation SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_002435.1 +1 reviewed p.V352I 1.000 78 0% 80 48.7% - - benign(0.082) tolerated(0.3) neutral(0.035) HMMPfam_PMI_typeI,superfamily_RmlC-like cupins ENSG00000214677 0 genome.wustl.edu 37 15 76031447 76031447 + Missense_Mutation SNP C C A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f ENST00000398772 -1 known p.G171V 1.000 13 0% 13 38.5% - - - - - NULL CHRNB4 1143 genome.wustl.edu 37 15 78917546 78917546 + Missense_Mutation SNP C C A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_000750.3 -1 validated p.G476W 1.000 147 0% 158 33.5% - - probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM IL16 3603 genome.wustl.edu 37 15 81598375 81598375 + Missense_Mutation SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_172217.3 +1 reviewed p.R1183C 1.000 127 0% 150 34.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like ANPEP 290 genome.wustl.edu 37 15 90340839 90340839 + Missense_Mutation SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_001150.2 -1 reviewed p.M708I 1.000 189 0% 182 10.4% - - possibly_damaging(0.695) deleterious(0.02) deleterious(0.632) NULL NAA60 79903 genome.wustl.edu 37 16 3533572 3533572 + Missense_Mutation SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_001083600.1 +1 validated p.G183S 1.000 48 0% 50 48% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Acyl_CoA_acyltransferase PPL 5493 genome.wustl.edu 37 16 4934260 4934260 + Silent SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_002705.4 -1 reviewed p.L1466 1.000 138 0% 112 33% - - - - - NULL PRM2 5620 genome.wustl.edu 37 16 11369990 11369990 + Missense_Mutation SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_002762.2 -1 validated p.R80C 0.011 26 0% 19 36.8% - - benign(0.134) - - HMMPfam_Protamine_P2 PDXDC1 23042 genome.wustl.edu 37 16 15129951 15129951 + Missense_Mutation SNP T T C novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_015027.2 +1 validated p.L729S 1.000 111 0% 144 42.4% - - possibly_damaging(0.527) deleterious(0.01) deleterious(0.584) NULL XYLT1 64131 genome.wustl.edu 37 16 17352862 17352862 + Missense_Mutation SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_022166.3 -1 reviewed p.R299Q 0.992 121 0% 118 10.2% - - probably_damaging(0.979) tolerated(0.08) deleterious(0.722) NULL ENSG00000245868 0 genome.wustl.edu 37 16 23490063 23490063 + RNA SNP A A G novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f ENST00000498959 +1 novel NULL 0.005 63 0% 44 25% - - - - - - RRN3P2 653390 genome.wustl.edu 37 16 29110458 29110458 + Missense_Mutation SNP T T C novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f ENST00000427965 +1 known p.W375R 0.991 103 1% 117 21.4% - - benign(0) tolerated(1) - HMMPfam_RRN3 KIF22 3835 genome.wustl.edu 37 16 29809773 29809773 + Silent SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_007317.1 +1 reviewed p.L115 1.000 89 0% 68 50% - - - - - HMMPfam_Kinesin,HMMSmart_KISc,superfamily_SSF52540 ITGAX 3687 genome.wustl.edu 37 16 31374634 31374634 + Missense_Mutation SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_000887.3 +1 reviewed p.R550Q 0.000 102 0% 119 47.1% - - benign(0.405) tolerated(0.47) neutral(0.142) HMMPfam_FG-GAP,HMMSmart_Int_alpha,superfamily_SSF69318 ZNF267 10308 genome.wustl.edu 37 16 31927101 31927101 + Missense_Mutation SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_003414.4 +1 validated p.R511W 0.989 169 0% 173 42.8% - - probably_damaging(0.971) tolerated(0.08) deleterious(0.713) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ORC6 23594 genome.wustl.edu 37 16 46724956 46724956 + Missense_Mutation SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_014321.2 +1 reviewed p.A40V 0.694 82 0% 108 48.1% - - possibly_damaging(0.901) tolerated(0.28) neutral(0.388) HMMPfam_ORC6 CES5A 221223 genome.wustl.edu 37 16 55890355 55890355 + Silent SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_001143685.1 -1 validated p.K353 0.062 178 0.6% 182 45.6% - - - - - HMMPfam_COesterase,superfamily_alpha/beta-Hydrolases SLC12A3 6559 genome.wustl.edu 37 16 56899291 56899291 + Silent SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_000339.2 +1 reviewed p.S48 1.000 73 0% 77 49.4% - - - - - NULL CPNE2 221184 genome.wustl.edu 37 16 57149427 57149427 + Silent SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_152727.4 +1 reviewed p.L134 0.992 38 0% 42 57.1% - - - - - superfamily_C2_CaLB FAM65A 79567 genome.wustl.edu 37 16 67572665 67572665 + Silent SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f ENST00000428437 +1 known p.R60C 0.956 70 1.4% 68 55.9% - - - - - NULL SLC12A4 6560 genome.wustl.edu 37 16 67979272 67979272 + Missense_Mutation SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_005072.4 -1 validated p.P1011L 1.000 38 0% 29 44.8% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL AARS 16 genome.wustl.edu 37 16 70295027 70295027 + Nonsense_Mutation SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_001605.2 -1 reviewed p.R569* 1.000 51 0% 45 46.7% - - - - - HMMPfam_tRNA-synt_2c FUK 197258 genome.wustl.edu 37 16 70501303 70501303 + Missense_Mutation SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_145059.2 +1 reviewed p.A171T 1.000 4 0.000 10 0.400 - - benign(0.004) tolerated(0.6) neutral(0.004) HMMPfam_Fucokinase HYDIN 54768 genome.wustl.edu 37 16 71065649 71065649 + Missense_Mutation SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_032821.2 -1 validated p.G901R 0.988 118 0% 107 40.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ZFHX3 463 genome.wustl.edu 37 16 72984792 72984792 + Missense_Mutation SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_006885.3 -1 reviewed p.G931D 1.000 77 0% 78 39.7% - - unknown(0) - - NULL CHST5 23563 genome.wustl.edu 37 16 75563388 75563388 + Missense_Mutation SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_024533.3 -1 validated p.A299T 1.000 27 0% 28 17.9% - - benign(0.018) tolerated(0.12) neutral(0.261) HMMPfam_Sulfotransfer_1,superfamily_P-loop containing nucleoside triphosphate hydrolases JPH3 57338 genome.wustl.edu 37 16 87678382 87678382 + Missense_Mutation SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_020655.2 +1 reviewed p.G301S 1.000 24 0% 25 36% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MORN,HMMSmart_SM00698,superfamily_Histone H3 K4-specific methyltransferase SET7/9 N-terminal domain BANP 54971 genome.wustl.edu 37 16 88039856 88039856 + Missense_Mutation SNP A A G novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_079837.2 +1 reviewed p.T175A 1.000 35 0% 53 39.6% - - probably_damaging(0.975) deleterious(0) deleterious(0.861) NULL ZC3H18 124245 genome.wustl.edu 37 16 88675400 88675400 + Missense_Mutation SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_144604.3 +1 validated p.G383R 1.000 172 0.6% 171 33.3% - - unknown(0) deleterious(0.01) - NULL SERPINF1 5176 genome.wustl.edu 37 17 1678426 1678426 + Missense_Mutation SNP A A T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_002615.4 +1 validated p.R240W 0.000 62 0% 81 46.9% - - probably_damaging(0.992) deleterious(0.02) deleterious(0.831) HMMPfam_Serpin,HMMSmart_SM00093,superfamily_Serpins PELP1 27043 genome.wustl.edu 37 17 4576196 4576196 + Missense_Mutation SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_014389.2 -1 validated p.S697L 0.276 35 0% 31 29% - - unknown(0) deleterious(0) - NULL DNAH2 146754 genome.wustl.edu 37 17 7708650 7708650 + Missense_Mutation SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_020877.2 +1 validated p.M3127I 1.000 127 0% 128 21.9% - - benign(0.079) deleterious(0.02) neutral(0.389) NULL GAS7 8522 genome.wustl.edu 37 17 9820563 9820563 + Silent SNP A A G novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_201433.1 -1 reviewed p.P471 0.030 90 0% 79 41.8% - - - - - NULL MYH8 4626 genome.wustl.edu 37 17 10307665 10307665 + Silent SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_002472.2 -1 reviewed p.L890 1.000 76 0% 99 43.4% - - - - - NULL MYH1 4619 genome.wustl.edu 37 17 10400729 10400729 + Missense_Mutation SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_005963.3 -1 reviewed p.A1469V 1.000 82 0% 79 36.7% - - unknown(0) tolerated(0.12) - HMMPfam_Myosin_tail_1 FAM83G 644815 genome.wustl.edu 37 17 18874816 18874816 + Silent SNP G G T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_001039999.2 -1 validated p.T776 0.000 43 0% 26 19.2% - - - - - NULL SLC35G3 146861 genome.wustl.edu 37 17 33520477 33520477 + Missense_Mutation SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_152462.2 -1 validated p.A284T 1.000 145 0% 174 29.3% - - benign(0) tolerated(0.55) neutral(0.007) superfamily_Multidrug resistance efflux transporter EmrE PIGW 284098 genome.wustl.edu 37 17 34893921 34893922 + Frame_Shift_Del DEL TA TA - novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 TA TA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_178517.3 +1 validated p.M326fs 0.000:0.097 - - - - - - - - - HMMPfam_GWT1 MED24 9862 genome.wustl.edu 37 17 38189362 38189362 + Missense_Mutation SNP T T C novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_014815.3 -1 reviewed p.T257A 1.000 55 0% 45 46.7% - - possibly_damaging(0.858) tolerated(0.19) neutral(0.381) NULL KRTAP9-9 81870 genome.wustl.edu 37 17 39411660 39411660 + Missense_Mutation SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_030975.2 +1 reviewed p.C8Y 1.000 274 0% 391 39.9% - - unknown(0) tolerated(0.07) - HMMPfam_Keratin_B2 KRTAP9-9 81870 genome.wustl.edu 37 17 39412141 39412141 + Silent SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_030975.2 +1 reviewed p.C148 0.998 390 0% 526 26.8% - - - - - HMMPfam_Keratin_B2 DHX58 79132 genome.wustl.edu 37 17 40262917 40262917 + Missense_Mutation SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_024119.2 -1 validated p.V129M 0.785 81 0% 80 43.8% - - possibly_damaging(0.939) deleterious(0) deleterious(0.829) HMMPfam_DEAD,HMMSmart_DEXDc,superfamily_SSF52540 NAGS 162417 genome.wustl.edu 37 17 42085860 42085862 + In_Frame_Del DEL TCT TCT - novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 TCT TCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_153006.2 +1 reviewed p.F501in_frame_del 1.000:1.000:1.000 - - - - - - - - - HMMPfam_DUF619 TBKBP1 9755 genome.wustl.edu 37 17 45773581 45773581 + Missense_Mutation SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_014726.2 +1 validated p.D35N 1.000 49 0% 78 26.9% - - probably_damaging(0.979) deleterious(0) deleterious(0.867) NULL CACNA1G 8913 genome.wustl.edu 37 17 48650469 48650469 + Missense_Mutation SNP A A C novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_018896.3 +1 validated p.I379L 1.000 17 0% 15 40% - - probably_damaging(0.995) tolerated(0.09) deleterious(0.754) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels CACNA1G 8913 genome.wustl.edu 37 17 48669123 48669123 + Missense_Mutation SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_018896.3 +1 validated p.G888D 1.000 92 0% 91 16.5% - - probably_damaging(0.986) deleterious(0) deleterious(0.879) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels TANC2 26115 genome.wustl.edu 37 17 61432681 61432681 + Missense_Mutation SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_025185.3 +1 validated p.H764Y 1.000 101 0% 118 48.3% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL ACE 1636 genome.wustl.edu 37 17 61564379 61564379 + Silent SNP C C A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_000789.2 +1 reviewed p.T750 0.004 25 0% 32 46.9% - - - - - "HMMPfam_Peptidase_M2,superfamily_Metalloproteases (""zincins"") catalytic domain" DDX42 11325 genome.wustl.edu 37 17 61890661 61890661 + Silent SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_007372.2 +1 reviewed p.T583 0.409 156 0% 156 44.9% - - - - - HMMPfam_Helicase_C,HMMSmart_SM00490,superfamily_P-loop containing nucleoside triphosphate hydrolases POLG2 11232 genome.wustl.edu 37 17 62486940 62486940 + Missense_Mutation SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_007215.3 -1 reviewed p.M314I 0.939 147 0% 160 27.5% - - benign(0.156) tolerated(0.2) neutral(0.063) superfamily_SSF55681 PRKCA 5578 genome.wustl.edu 37 17 64770120 64770120 + Frame_Shift_Del DEL C C - novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_002737.2 +1 reviewed p.P514fs 1.000 - - - - - - - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase DNAI2 64446 genome.wustl.edu 37 17 72305490 72305490 + Missense_Mutation SNP T T A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_023036.4 +1 reviewed p.F437Y 0.976 30 0% 28 17.9% - - benign(0) tolerated(0.7) neutral(0.002) superfamily_WD40 repeat-like CD300LF 146722 genome.wustl.edu 37 17 72694595 72694595 + Missense_Mutation SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_139018.3 -1 validated p.L158F 0.304 25 0% 30 50% - - unknown(0) deleterious(0) - NULL EVPL 2125 genome.wustl.edu 37 17 74004680 74004680 + Missense_Mutation SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_001988.2 -1 validated p.R1536W 0.987 79 0% 100 48% - - probably_damaging(1) tolerated(0.05) deleterious(0.845) NULL DNAH17 8632 genome.wustl.edu 37 17 76446338 76446338 + Missense_Mutation SNP T T C novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f ENST00000389840 -1 known p.K3666E 1.000 25 0% 15 53.3% - - possibly_damaging(0.945) tolerated(0.46) neutral(0.402) NULL ENGASE 64772 genome.wustl.edu 37 17 77076311 77076311 + Silent SNP T T C novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_001042573.1 +1 validated p.N196 0.000 23 0% 31 19.4% - - - - - HMMPfam_Glyco_hydro_85 C17orf70 80233 genome.wustl.edu 37 17 79516258 79516258 + Silent SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_025161.5 -1 validated p.L308 0.004 13 0% 14 35.7% - - - - - NULL MYOM1 8736 genome.wustl.edu 37 18 3075754 3075754 + Missense_Mutation SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_003803.3 -1 reviewed p.D1552N 1.000 24 0% 36 52.8% - - benign(0.41) deleterious(0.01) deleterious(0.538) NULL TGIF1 7050 genome.wustl.edu 37 18 3457801 3457802 + Frame_Shift_Del DEL AC AC - novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 AC AC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_170695.2 +1 reviewed p.Q358fs 0.961:0.995 - - - - - - - - - NULL PPP4R1 9989 genome.wustl.edu 37 18 9549316 9549316 + Silent SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_001042388.1 -1 validated p.C856 1.000 136 0% 135 43.7% - - - - - superfamily_ARM repeat MOCOS 55034 genome.wustl.edu 37 18 33795824 33795824 + Missense_Mutation SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_017947.2 +1 validated p.A561T 0.000 130 0% 140 46.4% - - benign(0) tolerated(0.64) neutral(0.003) NULL NFATC1 4772 genome.wustl.edu 37 18 77246358 77246358 + Missense_Mutation SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_172387.1 +1 reviewed p.A722T 0.024 30 0% 32 62.5% - - benign(0) tolerated(0.77) neutral(0.001) NULL HCN2 610 genome.wustl.edu 37 19 608076 608076 + Missense_Mutation SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_001194.3 +1 validated p.T444I 1.000 9 0.000 11 0.364 - - possibly_damaging(0.76) deleterious(0.01) deleterious(0.687) HMMPfam_Ion_trans,superfamily_SSF81324 ABCA7 10347 genome.wustl.edu 37 19 1061871 1061871 + Missense_Mutation SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_019112.3 +1 reviewed p.V1852M 0.686 3 0.000 8 0.625 - - benign(0.394) tolerated(0.15) neutral(0.367) HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases DENND1C 79958 genome.wustl.edu 37 19 6470326 6470326 + Missense_Mutation SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_024898.2 -1 validated p.V448I 0.950 34 0% 21 28.6% - - probably_damaging(0.995) deleterious(0.01) deleterious(0.863) NULL MUC16 94025 genome.wustl.edu 37 19 9077331 9077331 + Missense_Mutation SNP G G T rs143304016 by1000genomes TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_024690.2 -1 validated p.P3372H 0.000 706 0% 703 44.1% - - unknown(0) - - NULL ZNF763 284390 genome.wustl.edu 37 19 12089469 12089469 + Nonsense_Mutation SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_001012753.1 +1 validated p.R247* 0.000 176 0% 242 40.9% - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 FBXW9 84261 genome.wustl.edu 37 19 12801980 12801980 + Missense_Mutation SNP C C A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_032301.2 -1 validated p.A295S 1.000 68 0% 77 28.6% - - possibly_damaging(0.795) tolerated(0.35) neutral(0.319) superfamily_WD40_like OR7A10 390892 genome.wustl.edu 37 19 14952485 14952485 + Missense_Mutation SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_001005190.1 -1 provisional p.V69I 0.001 244 0% 362 46.4% - - benign(0.081) tolerated(0.16) neutral(0.066) HMMPfam_7tm_1,superfamily_SSF81321 RASAL3 64926 genome.wustl.edu 37 19 15572100 15572100 + Missense_Mutation SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_022904.1 -1 validated p.R158Q 0.724 15 0% 35 48.6% - - probably_damaging(0.97) tolerated(0.07) deleterious(0.732) NULL ZNF91 7644 genome.wustl.edu 37 19 23545000 23545000 + Missense_Mutation SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_003430.2 -1 validated p.A261T 0.047 390 0.3% 506 13.8% - - benign(0.003) tolerated(1) - superfamily_C2H2 and C2HC zinc fingers MAG 4099 genome.wustl.edu 37 19 35790481 35790481 + Missense_Mutation SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_002361.2 +1 reviewed p.P147L 0.565 12 0% 17 41.2% - - possibly_damaging(0.461) tolerated(0.06) deleterious(0.474) HMMPfam_C2-set_2,superfamily_SSF48726 KIRREL2 84063 genome.wustl.edu 37 19 36353881 36353881 + Silent SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_199180.2 +1 validated p.S556 0.037 8 0.000 15 0.533 - - - - - NULL RYR1 6261 genome.wustl.edu 37 19 38990636 38990636 + Missense_Mutation SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_000540.2 +1 reviewed p.R2435C 1.000 32 0% 31 67.7% - - probably_damaging(1) - - NULL CIC 23152 genome.wustl.edu 37 19 42791587 42791587 + Missense_Mutation SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_015125.3 +1 validated p.R190C 1.000 125 0% 73 38.4% - - probably_damaging(0.979) deleterious(0.01) deleterious(0.828) superfamily_HMG-box PVRL2 5819 genome.wustl.edu 37 19 45377679 45377679 + Missense_Mutation SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_001042724.1 +1 reviewed p.C329Y 0.999 154 0% 106 40.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin CLPTM1 1209 genome.wustl.edu 37 19 45493682 45493682 + Missense_Mutation SNP C C A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_001294.1 +1 provisional p.L388M 1.000 103 0% 94 39.4% - - probably_damaging(0.968) tolerated(0.36) neutral(0.430) HMMPfam_CLPTM1 SYNGR4 23546 genome.wustl.edu 37 19 48878931 48878931 + Silent SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_012451.2 +1 reviewed p.S131 0.000 48 0% 75 46.7% - - - - - HMMPfam_MARVEL GRWD1 83743 genome.wustl.edu 37 19 48954462 48954462 + Missense_Mutation SNP A A G novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_031485.3 +1 validated p.K333E 1.000 46 0% 40 50% - - possibly_damaging(0.95) tolerated(0.08) deleterious(0.694) HMMSmart_SM00320,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1,HMMPfam_WD40 ZNF525 170958 genome.wustl.edu 37 19 53884007 53884009 + In_Frame_Del DEL TCA TCA - novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 TCA TCA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f ENST00000474037 +1 known p.S60in_frame_del 0.100:0.099:0.091 - - - - - - - - - HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) KIR2DL4 3805 genome.wustl.edu 37 19 55325391 55325391 + Missense_Mutation SNP G G T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_001080770.1 +1 reviewed p.S285I 0.000 296 0% 366 19.9% - - benign(0.001) deleterious(0) neutral(0.445) NULL LOC646698 646698 genome.wustl.edu 37 19 56756741 56756741 + Missense_Mutation SNP G G C novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f XM_001725568.1 +1 model p.A176P 0.001 52 0% 53 35.8% - - - - - NULL ZSCAN4 201516 genome.wustl.edu 37 19 58187704 58187704 + Missense_Mutation SNP G G T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_152677.2 +1 validated p.R64I 0.007 125 0% 172 41.9% - - probably_damaging(0.998) tolerated(0.09) deleterious(0.771) HMMPfam_SCAN ZNF814 730051 genome.wustl.edu 37 19 58384588 58384588 + Missense_Mutation SNP A A T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_001144989.1 -1 validated p.F724I 0.000 142 0% 199 46.7% - - benign(0.141) tolerated(0.58) neutral(0.017) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers SNPH 9751 genome.wustl.edu 37 20 1286361 1286361 + Missense_Mutation SNP C C A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_014723.2 +1 reviewed p.P383H 0.609 5 0.000 12 0.583 - - possibly_damaging(0.631) tolerated(0.06) deleterious(0.543) NULL SIRPB2 284759 genome.wustl.edu 37 20 1471988 1471988 + Silent SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_001122962.1 -1 validated p.S6 0.005 22 0% 19 57.9% - - - - - NULL TGM6 343641 genome.wustl.edu 37 20 2375953 2375953 + Missense_Mutation SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_198994.2 +1 validated p.V99I 0.004 62 0% 60 48.3% - - benign(0.005) tolerated(0.44) neutral(0.013) HMMPfam_Transglut_N,superfamily_E set domains DEFB118 117285 genome.wustl.edu 37 20 29960960 29960960 + Missense_Mutation SNP A A G novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_054112.1 +1 provisional p.H120R 0.000 184 0% 194 49.5% - - benign(0.171) deleterious(0) neutral(0.460) NULL TTLL9 164395 genome.wustl.edu 37 20 30496476 30496476 + Missense_Mutation SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_001008409.2 +1 provisional p.R97W 0.999 16 0% 29 31% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TTL XKR7 343702 genome.wustl.edu 37 20 30584922 30584922 + Missense_Mutation SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_001011718.1 +1 provisional p.A468T 0.996 25 0% 35 42.9% - - benign(0.424) tolerated(0.17) neutral(0.197) NULL BPIFB6 128859 genome.wustl.edu 37 20 31628108 31628108 + Missense_Mutation SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_174897.2 +1 validated p.A376T 0.761 47 0% 62 21% - - benign(0.001) tolerated(0.58) neutral(0.005) HMMPfam_LBP_BPI_CETP_C,HMMSmart_BPI2,superfamily_Bactericidal_perm-incr_a/b_dom ZNF341 84905 genome.wustl.edu 37 20 32349699 32349699 + Missense_Mutation SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_032819.3 +1 validated p.A347T 1.000 150 0% 207 25.6% - - benign(0.156) tolerated(0.38) neutral(0.032) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 RBL1 5933 genome.wustl.edu 37 20 35724211 35724211 + Missense_Mutation SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_002895.2 -1 reviewed p.D41N 1.000 10 0% 14 42.9% - - benign(0.004) tolerated(0.9) - NULL PPP1R16B 26051 genome.wustl.edu 37 20 37547220 37547220 + Missense_Mutation SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_015568.2 +1 reviewed p.V539I 0.998 45 0% 53 17% - - possibly_damaging(0.815) tolerated(0.42) neutral(0.322) NULL SEMG2 6407 genome.wustl.edu 37 20 43850637 43850637 + Missense_Mutation SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_003008.2 +1 reviewed p.H122Y 0.000 307 0% 303 47.5% - - possibly_damaging(0.797) deleterious(0.01) deleterious(0.705) HMMPfam_Semenogelin SLC9A8 23315 genome.wustl.edu 37 20 48497525 48497525 + Missense_Mutation SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_015266.1 +1 validated p.R408Q 1.000 347 0% 354 46.9% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Na_H_Exchanger BCAS1 8537 genome.wustl.edu 37 20 52645024 52645024 + Silent SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_003657.2 -1 reviewed p.D210 0.000 418 0.2% 461 45.8% - - - - - NULL SLC5A3 6526 genome.wustl.edu 37 21 35467997 35467997 + Missense_Mutation SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_006933.4 +1 validated p.G167D 1.000 206 0% 210 30.5% - - benign(0.196) deleterious(0.02) neutral(0.402) HMMPfam_SSF,PatternScan_NA_SOLUT_SYMP_1 WRB 7485 genome.wustl.edu 37 21 40763744 40763744 + Silent SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_004627.4 +1 reviewed p.V106 0.788 106 0% 90 34.4% - - - - - HMMPfam_CHD5 RIPK4 54101 genome.wustl.edu 37 21 43161264 43161264 + Silent SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_020639.2 -1 reviewed p.L697 0.039 44 0% 41 22% - - - - - HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK PWP2 5822 genome.wustl.edu 37 21 45535193 45535193 + Missense_Mutation SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f ENST00000456705 +1 known p.P140L 0.053 68 0% 56 28.6% - - unknown(0) - - NULL MCM3AP 8888 genome.wustl.edu 37 21 47704816 47704816 + Nonsense_Mutation SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_003906.3 -1 reviewed p.Q129* 0.000 76 0% 91 42.9% - - - - - NULL C21orf58 54058 genome.wustl.edu 37 21 47721985 47721986 + In_Frame_Ins INS - - TGG rs71318063 byCluster;by1000genomes TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f ENST00000291691 -1 known p.300in_frame_insH 0.000:0.001 - - - - - - - - - NULL LOC100287161 100287161 genome.wustl.edu 37 22 24656788 24656788 + Silent SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f XM_002343792.1 -1 model p.S101 0.870 21 0% 20 35% - - - - - HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP ZNRF3 84133 genome.wustl.edu 37 22 29445298 29445298 + Missense_Mutation SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_032173.2 +1 validated p.A277T 1.000 47 0% 63 57.1% - - probably_damaging(0.955) tolerated(0.1) deleterious(0.685) NULL TNRC6B 23112 genome.wustl.edu 37 22 40662362 40662362 + Missense_Mutation SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_015088.2 +1 validated p.G710R 1.000 84 0% 80 32.5% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL TNRC6B 23112 genome.wustl.edu 37 22 40697177 40697179 + In_Frame_Del DEL GCA GCA - rs71764365 byCluster;by1000genomes TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 GCA GCA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_015088.2 +1 validated p.Q1214in_frame_del 1.000:1.000:1.000 - - - - - - - - - NULL TCF20 6942 genome.wustl.edu 37 22 42610471 42610471 + Missense_Mutation SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_005650.1 -1 reviewed p.A281T 0.998 425 0% 468 43.2% - - probably_damaging(0.98) deleterious(0.01) deleterious(0.830) NULL NCAPH2 29781 genome.wustl.edu 37 22 50961624 50961624 + Missense_Mutation SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f ENST00000395701 +1 known p.G569E 0.000 9 0.000 14 0.643 - - benign(0.29) tolerated(1) neutral(0.089) HMMPfam_DUF1032 KIR2DL5B 553128 genome.wustl.edu 37 GL000209.1 67542 67542 + Missense_Mutation SNP G G T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f ENST00000400851 +1 known p.S340I NULL 277 0% 296 41.2% - - benign(0.025) deleterious(0) neutral(0.446) NULL PHKA2 5256 genome.wustl.edu 37 X 18970629 18970629 + Nonsense_Mutation SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_000292.2 -1 reviewed p.Q90* 1.000 142 0% 155 41.3% - - - - - HMMPfam_PHK_AB,superfamily_Six-hairpin glycosidases PDK3 5165 genome.wustl.edu 37 X 24552116 24552116 + Missense_Mutation SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_001142386.2 +1 reviewed p.T383M 0.982 107 0% 116 10.3% - - benign(0.356) tolerated(0.13) neutral(0.365) NULL CASK 8573 genome.wustl.edu 37 X 41379784 41379784 + Silent SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_003688.3 -1 reviewed p.F885 1.000 153 0% 170 41.2% - - - - - HMMSmart_GuKc,superfamily_SSF52540 ERAS 3266 genome.wustl.edu 37 X 48687822 48687822 + Missense_Mutation SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_181532.2 +1 provisional p.A97T 0.614 57 0% 32 37.5% - - benign(0.184) deleterious(0) neutral(0.462) HMMSmart_RAS,HMMPfam_Ras,superfamily_SSF52540 HUWE1 10075 genome.wustl.edu 37 X 53607838 53607838 + Missense_Mutation SNP T T C novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_031407.4 -1 reviewed p.N1890S 1.000 43 0% 42 16.7% - - benign(0) tolerated(0.13) neutral(0.253) superfamily_ARM repeat APEX2 27301 genome.wustl.edu 37 X 55028778 55028778 + Silent SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_014481.2 +1 reviewed p.C112 1.000 56 0% 75 10.7% - - - - - HMMPfam_Exo_endo_phos,superfamily_Exo_endo_phos LAS1L 81887 genome.wustl.edu 37 X 64753514 64753514 + Missense_Mutation SNP A A G novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_031206.4 -1 validated p.L113P 1.000 331 0% 398 46.2% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_Las1 ZMYM3 9203 genome.wustl.edu 37 X 70468138 70468138 + Missense_Mutation SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_005096.3 -1 reviewed p.R617C 0.998 44 0% 56 57.1% - - probably_damaging(0.988) deleterious(0) deleterious(0.882) HMMPfam_zf-FCS,HMMSmart_SM00746 NONO 4841 genome.wustl.edu 37 X 70517254 70517254 + Missense_Mutation SNP G G A novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_001145408.1 +1 reviewed p.R324Q 1.000 26 0% 20 60% - - probably_damaging(0.998) tolerated(0.1) deleterious(0.761) NULL ACRC 93953 genome.wustl.edu 37 X 70814209 70814209 + Missense_Mutation SNP G G T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_052957.4 +1 validated p.G57C 0.001 126 0% 117 43.6% - - unknown(0) deleterious(0) - NULL NAP1L2 4674 genome.wustl.edu 37 X 72434247 72434247 + Missense_Mutation SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_021963.2 -1 reviewed p.G28R 0.012 147 0% 200 19% - - benign(0.002) deleterious(0) neutral(0.445) NULL BRWD3 254065 genome.wustl.edu 37 X 79932558 79932558 + Missense_Mutation SNP T T A rs181617490 by1000genomes TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_153252.4 -1 reviewed p.K1653N 1.000 545 0.2% 683 42% - - probably_damaging(0.988) deleterious(0) deleterious(0.882) NULL PABPC5 140886 genome.wustl.edu 37 X 90690585 90690585 + Silent SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_080832.2 +1 reviewed p.S3 0.996 54 0% 50 32% - - - - - NULL CXorf57 55086 genome.wustl.edu 37 X 105865979 105865979 + Nonsense_Mutation SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_018015.5 +1 validated p.R248* 0.991 163 0.6% 205 48.3% - - - - - superfamily_Nucleic acid-binding proteins MORC4 79710 genome.wustl.edu 37 X 106229258 106229258 + Missense_Mutation SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_024657.4 -1 reviewed p.A161T 1.000 344 0.3% 337 42.7% - - probably_damaging(0.987) tolerated(0.17) deleterious(0.495) superfamily_ATP_bd_ATPase AVPR2 554 genome.wustl.edu 37 X 153171375 153171375 + Missense_Mutation SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_000054.4 +1 reviewed p.R139C 0.998 63 0% 51 47.1% - - probably_damaging(0.999) tolerated(0.17) deleterious(0.549) HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like NAA10 8260 genome.wustl.edu 37 X 153195637 153195637 + Missense_Mutation SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_003491.2 -1 provisional p.V171M 0.008 40 0% 44 22.7% - - benign(0.186) tolerated(0.29) neutral(0.046) NULL PLXNA3 55558 genome.wustl.edu 37 X 153689949 153689949 + Silent SNP C C T novel TCGA-AP-A0LG-01A-11W-A062-09 TCGA-AP-A0LG-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce187e7f-447e-48ca-87f4-55d616a5b67e e1f4872f-2c1a-445f-8a50-8f3a3a554a9f NM_017514.3 +1 reviewed p.L369 1.000 30 0% 18 22.2% - - - - - HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema