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 PLEKHN1 84069 genome.wustl.edu 37 1 905935 905935 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_032129.2 +1 validated p.A122V 0.793 10 0% 12 41.7% 1 0% possibly_damaging(0.527) tolerated(0.06) deleterious(0.500) HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 C1orf159 54991 genome.wustl.edu 37 1 1019487 1019487 + Missense_Mutation SNP T T C rs147852840 by1000genomes TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb ENST00000379339 -1 known p.M286V 0.000 5 0.000 8 0.750 2 0% unknown(0) deleterious(0) - NULL TP73 7161 genome.wustl.edu 37 1 3646013 3646013 + Splice_Site DEL G G - novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_005427.2 +1 reviewed e9+1 1.000 - - - - - - - - - - CEP104 9731 genome.wustl.edu 37 1 3740038 3740038 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_014704.3 -1 validated p.A818V 1.000 114 0% 113 43.4% 36 41.6% possibly_damaging(0.869) tolerated(0.1) deleterious(0.623) NULL RPL22 6146 ucsc.edu 37 1 6257785 6257785 + Frame_Shift_Del DEL T - - novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_000983.3 -1 reviewed p.K15fs 1 - - - - - - - - - HMMPfam_Ribosomal_L22e PHF13 148479 genome.wustl.edu 37 1 6680349 6680349 + Nonsense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_153812.2 +1 validated p.R210* 1.000 18 0% 10 60% 12 50% - - - NULL SLC2A5 6518 genome.wustl.edu 37 1 9097982 9097982 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_003039.2 -1 validated p.V426M 0.980 20 0.000 9 0.667 10 10% probably_damaging(0.982) deleterious(0) deleterious(0.871) HMMPfam_Sugar_tr,superfamily_MFS_gen_substrate_transporter CLSTN1 22883 genome.wustl.edu 37 1 9811715 9811715 + Silent SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001009566.1 -1 validated p.N155 0.976 59 0% 61 50.8% 30 53.3% - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PRDM2 7799 genome.wustl.edu 37 1 14105787 14105787 + Silent SNP A A G novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_012231.4 +1 reviewed p.R499 0.122 131 0% 128 32.8% 3 33.3% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers CTRC 11330 genome.wustl.edu 37 1 15771139 15771139 + Nonsense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_007272.2 +1 reviewed p.Q178* 1.000 47 0% 66 43.9% 0 - - - - HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases AGMAT 79814 genome.wustl.edu 37 1 15909853 15909853 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_024758.3 -1 validated p.L104F 0.976 23 0% 35 51.4% 6 50% probably_damaging(0.958) deleterious(0) deleterious(0.846) HMMPfam_Arginase,superfamily_SSF52768 LOC645317 645317 genome.wustl.edu 37 1 15931403 15931403 + Silent SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb XM_934920.4 +1 model p.P140 0.921 43 0% 49 53.1% 1 0% - - - HMMPfam_CHCH SPEN 23013 genome.wustl.edu 37 1 16256920 16256920 + Silent SNP C C A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_015001.2 +1 reviewed p.A1395 0.118 264 0% 279 45.5% 0 - - - - NULL ARHGEF19 128272 genome.wustl.edu 37 1 16534495 16534495 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_153213.3 -1 provisional p.R213Q 0.221 17 0% 18 27.8% 21 66.6% possibly_damaging(0.883) deleterious(0.02) deleterious(0.728) NULL C1orf201 90529 genome.wustl.edu 37 1 24706160 24706160 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_178122.3 -1 predicted p.A102T 1.000 159 0% 98 44.9% 6 66.6% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL CNKSR1 10256 genome.wustl.edu 37 1 26514789 26514789 + Nonsense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_006314.2 +1 reviewed p.R507* 0.291 26 0% 29 31% 37 24.3% - - - NULL GPATCH3 63906 genome.wustl.edu 37 1 27219197 27219197 + Silent SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb ENST00000445019 -1 known p.S49L 0.000 201 0.5% 228 50.4% 28 46.4% - - - NULL SLC9A1 6548 genome.wustl.edu 37 1 27429791 27429791 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_003047.3 -1 validated p.R500W 1.000 22 0% 22 59.1% 9 66.6% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_Na_H_Exchanger PHACTR4 65979 genome.wustl.edu 37 1 28786746 28786746 + Nonsense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_023923.3 +1 reviewed p.R82* 1.000 86 0% 67 47.8% 5 0% - - - HMMSmart_RPEL PTPRU 10076 genome.wustl.edu 37 1 29642617 29642617 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_005704.3 +1 reviewed p.R1166H 1.000 54 0% 22 59.1% 12 25% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) superfamily_(Phosphotyrosine protein) phosphatases II LCK 3932 genome.wustl.edu 37 1 32745764 32745764 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001042771.1 +1 reviewed p.G427E 1.000 34 0% 62 45.2% 4 25% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) CSMD2 114784 genome.wustl.edu 37 1 34128645 34128645 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_052896.3 -1 validated p.R1327H 1.000 129 0% 104 46.2% 0 - probably_damaging(0.974) tolerated(0.15) deleterious(0.657) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain SFPQ 6421 genome.wustl.edu 37 1 35654848 35654848 + Silent SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_005066.2 -1 validated p.D517 1.000 127 0% 80 38.8% 375 44.5% - - - superfamily_RNA-binding domain RBD TFAP2E 339488 genome.wustl.edu 37 1 36060128 36060128 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_178548.3 +1 validated p.G394S 1.000 141 0% 181 41.4% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TF_AP-2 MRPS15 64960 genome.wustl.edu 37 1 36923545 36923545 + Silent SNP T T C novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_031280.3 -1 reviewed p.E141 0.992 205 0% 144 40.3% 414 43.4% - - - HMMPfam_Ribosomal_S15,superfamily_S15/NS1 RNA-binding domain GRIK3 2899 genome.wustl.edu 37 1 37324832 37324832 + Silent SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_000831.3 -1 reviewed p.Y327 0.774 62 0% 52 34.6% 0 - - - - HMMPfam_ANF_receptor,superfamily_SSF53822 SCMH1 22955 genome.wustl.edu 37 1 41512120 41512120 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001031694.2 -1 validated p.T476I 0.105 46 0% 57 50.9% 39 51.2% possibly_damaging(0.799) tolerated(0.09) deleterious(0.597) NULL SZT2 23334 genome.wustl.edu 37 1 43891763 43891763 + Missense_Mutation SNP T T C novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_015284.2 +1 predicted p.L153P 1.000 111 0% 71 40.8% 0 - probably_damaging(0.962) tolerated(0.17) neutral(0.464) NULL MUTYH 4595 genome.wustl.edu 37 1 45799121 45799121 + Silent SNP G G A rs121908380 byCluster;byFrequency TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb ENST00000448481 -1 known p.R102* 0.791 79 0% 114 43.9% 29 41.3% - - - superfamily_DNA-glycosylase OSBPL9 114883 genome.wustl.edu 37 1 52251549 52251549 + Silent SNP T T C novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb ENST00000447887 +1 known p.C650R 1.000 279 0% 196 41.8% 41 46.3% - - - HMMPfam_Oxysterol_BP NRD1 4898 genome.wustl.edu 37 1 52280280 52280280 + Missense_Mutation SNP A A G novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_002525.2 -1 validated p.V589A 1.000 168 0% 127 38.6% 19 47.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Peptidase_M16_C CC2D1B 200014 genome.wustl.edu 37 1 52827212 52827213 + In_Frame_Ins INS - - TCC novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_032449.1 -1 validated p.98in_frame_insE 0.997:0.999 - - - - - - - - - NULL FAM159A 348378 genome.wustl.edu 37 1 53122589 53122589 + Missense_Mutation SNP G G T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001042693.1 +1 validated p.Q150H 0.001 292 0.3% 250 48.4% 3 33.3% probably_damaging(0.981) deleterious(0) deleterious(0.870) NULL DIO1 1733 genome.wustl.edu 37 1 54359887 54359887 + Missense_Mutation SNP G G C novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001039715.1 +1 reviewed p.G2R 0.994 111 0% 120 38.3% 0 - possibly_damaging(0.886) deleterious(0.01) deleterious(0.752) NULL KANK4 163782 genome.wustl.edu 37 1 62734038 62734038 + Nonsense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_181712.4 -1 validated p.Q718* 0.006 25 0% 31 48.4% 16 25% - - - NULL IL12RB2 3595 genome.wustl.edu 37 1 67838135 67838135 + Silent SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001559.2 +1 reviewed p.Y492 0.000 307 0% 247 24.7% 1 0% - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III SRSF11 9295 genome.wustl.edu 37 1 70697950 70697950 + Nonsense_Mutation SNP G G T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb ENST00000370949 +1 known p.G53* 1.000 103 0% 80 46.3% 7 14.2% - - - NULL SSX2IP 117178 genome.wustl.edu 37 1 85113137 85113137 + Silent SNP T T C novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_014021.3 -1 reviewed p.V608 0.101 246 0% 166 50% 22 27.2% - - - NULL LRRC8B 23507 genome.wustl.edu 37 1 90058350 90058350 + Silent SNP G G T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001134476.1 +1 validated p.G720 1.000 351 0% 248 41.1% 4 75% - - - HMMSmart_LRR_TYP,superfamily_SSF52058 PALMD 54873 genome.wustl.edu 37 1 100152744 100152744 + Silent SNP A A G novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_017734.4 +1 validated p.K171 1.000 91 0% 57 36.8% 2 50% - - - NULL KIAA1324 57535 genome.wustl.edu 37 1 109742532 109742532 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_020775.3 +1 validated p.A853V 0.021 74 0% 91 40.7% 849 49.8% benign(0.001) tolerated(0.22) neutral(0.042) superfamily_Mannose 6-phosphate receptor domain CELSR2 1952 genome.wustl.edu 37 1 109814989 109814989 + Silent SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001408.2 +1 reviewed p.S2672 0.335 75 0% 60 45% 46 54.3% - - - NULL CELSR2 1952 genome.wustl.edu 37 1 109815318 109815318 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001408.2 +1 reviewed p.S2704N 0.005 38 0% 34 17.6% 43 23.2% possibly_damaging(0.494) tolerated(0.43) neutral(0.178) NULL PSRC1 84722 genome.wustl.edu 37 1 109824253 109824253 + Silent SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001032291.2 -1 reviewed p.S169 0.003 87 0% 71 53.5% 37 48.6% - - - NULL GPR61 83873 genome.wustl.edu 37 1 110086063 110086063 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_031936.4 +1 validated p.R140H 1.000 53 0% 65 43.1% 0 - 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 GSTM4 2948 genome.wustl.edu 37 1 110199040 110199040 + Missense_Mutation SNP T T G novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_000850.4 +1 reviewed p.I10S 1.000 77 0% 68 42.6% 50 28% probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_GST_N,superfamily_Thioredoxin-like KCNA3 3738 genome.wustl.edu 37 1 111216076 111216076 + Silent SNP T T C novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_002232.3 -1 reviewed p.P452 0.949 144 0% 71 22.5% 1 0% - - - HMMPfam_Ion_trans,superfamily_SSF81324 KCNA3 3738 genome.wustl.edu 37 1 111216708 111216708 + Silent SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_002232.3 -1 reviewed p.L242 1.000 107 0% 47 21.3% 0 - - - - superfamily_SSF81324 LRIG2 9860 genome.wustl.edu 37 1 113636070 113636070 + Silent SNP A A G novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_014813.1 +1 provisional p.P133 1.000 150 0.7% 79 40.5% 1 0% - - - superfamily_SSF52047 SV2A 9900 genome.wustl.edu 37 1 149881044 149881044 + Missense_Mutation SNP C C A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_014849.3 -1 validated p.W420L 1.000 94 0% 63 52.4% 0 - benign(0.008) tolerated(0.67) neutral(0.003) HMMPfam_MFS_1,superfamily_MFS general substrate transporter ANP32E 81611 genome.wustl.edu 37 1 150204166 150204166 + Silent SNP A A G novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_030920.3 -1 validated p.N51 0.994 116 0% 94 38.3% 62 51.6% - - - superfamily_L domain-like ADAMTSL4 54507 genome.wustl.edu 37 1 150529441 150529441 + Silent SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_019032.4 +1 reviewed p.G592 0.658 169 0% 48 39.6% 0 - - - - HMMPfam_ADAM_spacer1 RPTN 126638 genome.wustl.edu 37 1 152128002 152128002 + Nonsense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001122965.1 -1 validated p.Q525* 0.792 1577 0% 1771 44% 0 - - - - NULL FLG 2312 genome.wustl.edu 37 1 152276312 152276312 + Nonsense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_002016.1 -1 reviewed p.Q3684* 0.000 504 0% 556 43% 0 - - - - NULL FLG2 388698 genome.wustl.edu 37 1 152324558 152324559 + Frame_Shift_Del DEL TG TG - novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 TG TG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001014342.2 -1 provisional p.H1901fs 0.000:0.000 - - - - - - - - - NULL CRNN 49860 genome.wustl.edu 37 1 152383073 152383073 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_016190.2 -1 reviewed p.A162V 0.001 241 0% 322 46.6% 0 - possibly_damaging(0.808) deleterious(0) deleterious(0.748) NULL RXFP4 339403 genome.wustl.edu 37 1 155911908 155911908 + Silent SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_181885.2 +1 validated p.S136 0.179 19 0% 39 35.9% 7 85.7% - - - HMMPfam_7tm_1,superfamily_SSF81321 BCAN 63827 genome.wustl.edu 37 1 156628449 156628449 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_021948.3 +1 validated p.R851H 1.000 54 0% 56 53.6% 0 - probably_damaging(1) tolerated(0.08) deleterious(0.800) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain DEDD 9191 genome.wustl.edu 37 1 161092286 161092286 + Missense_Mutation SNP T T C novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001039711.1 -1 reviewed p.Y203C 1.000 119 0% 150 44.7% 34 76.4% probably_damaging(1) deleterious(0) deleterious(0.945) NULL GPR161 23432 genome.wustl.edu 37 1 168066278 168066278 + Silent SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_153832.1 -1 provisional p.T189 0.000 63 0% 80 46.3% 2 100% - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like KIFAP3 22920 genome.wustl.edu 37 1 169930291 169930291 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_014970.2 -1 reviewed p.R690H 1.000 156 0% 113 47.8% 27 37% probably_damaging(0.998) tolerated(0.05) deleterious(0.820) HMMPfam_KAP SEC16B 89866 genome.wustl.edu 37 1 177930832 177930832 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_033127.2 -1 validated p.R227H 0.934 64 0% 52 36.5% 3 0% benign(0.006) tolerated(0.67) neutral(0.003) NULL KCNT2 343450 genome.wustl.edu 37 1 196342344 196342344 + Silent SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_198503.2 -1 validated p.A443 1.000 166 0% 50 52% 0 - - - - HMMPfam_BK_channel_a,superfamily_NAD(P)-binding Rossmann-fold domains KIF21B 23046 genome.wustl.edu 37 1 200956183 200956183 + Silent SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_017596.2 -1 provisional p.D1185 1.000 91 0% 77 41.6% 0 - - - - superfamily_WD40_like KIF21B 23046 genome.wustl.edu 37 1 200977986 200977986 + Missense_Mutation SNP G G T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_017596.2 -1 provisional p.L120I 1.000 132 0% 116 48.3% 0 - probably_damaging(0.987) tolerated(0.21) deleterious(0.480) HMMPfam_Kinesin,HMMSmart_KISc,superfamily_SSF52540 TMEM81 388730 genome.wustl.edu 37 1 205053387 205053387 + Missense_Mutation SNP A A G novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_203376.1 -1 validated p.L21S 0.003 163 0% 131 49.6% 2 50% benign(0.008) deleterious(0.01) neutral(0.406) NULL SLC45A3 85414 genome.wustl.edu 37 1 205632155 205632155 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_033102.2 -1 validated p.A255V 0.993 15 0% 16 56.2% 4 50% benign(0.005) deleterious(0.05) neutral(0.345) superfamily_MFS general substrate transporter FAIM3 9214 genome.wustl.edu 37 1 207087160 207087160 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001142472.1 -1 validated p.A106V 0.000 153 0% 249 54.6% 0 - benign(0) tolerated(1) - HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin C1orf65 164127 genome.wustl.edu 37 1 223568645 223568645 + Silent SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_152610.2 +1 validated p.L610 0.000 94 0% 67 52.2% 0 - - - - NULL LOC100130093 100130093 genome.wustl.edu 37 1 227920568 227920568 + RNA SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NR_024485.1 +1 validated NULL 0.001 11 0% 13 46.2% 1 100% - - - - OBSCN 84033 genome.wustl.edu 37 1 228520620 228520620 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001098623.1 +1 reviewed p.A5238T 1.000 17 0% 16 56.2% 0 - probably_damaging(0.955) tolerated(0.06) deleterious(0.721) NULL OBSCN 84033 genome.wustl.edu 37 1 228563735 228563735 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001098623.1 +1 reviewed p.D7605N 0.999 19 0% 19 47.4% 5 20% benign(0.355) tolerated(0.06) neutral(0.435) HMMSmart_SM00060,superfamily_Fibronectin type III DISC1 27185 genome.wustl.edu 37 1 231837748 231837748 + Silent SNP T T C novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_018662.2 +1 reviewed p.V365 0.758 73 0% 27 44.4% 1 0% - - - NULL KIAA1804 84451 genome.wustl.edu 37 1 233514835 233514835 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_032435.2 +1 validated p.A695T 0.348 178 0% 138 41.3% 0 - benign(0) tolerated(0.5) neutral(0.010) NULL LYST 1130 genome.wustl.edu 37 1 235926125 235926125 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_000081.2 -1 reviewed p.R2050W 0.966 183 0% 139 27.3% 0 - possibly_damaging(0.9) - - NULL ACTN2 88 genome.wustl.edu 37 1 236902683 236902683 + Silent SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001103.2 +1 reviewed p.L320 1.000 218 0% 254 50% 0 - - - - HMMPfam_Spectrin,superfamily_Spectrin repeat OR2M5 127059 genome.wustl.edu 37 1 248309055 248309055 + Silent SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001004690.1 +1 provisional p.C202 0.000 652 0% 681 41.4% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 KCNF1 3754 genome.wustl.edu 37 2 11053432 11053432 + Missense_Mutation SNP A A G novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_002236.4 +1 reviewed p.I294V 1.000 16 0.000 4 1.000 0 - probably_damaging(0.971) deleterious(0.01) deleterious(0.819) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels GREB1 9687 genome.wustl.edu 37 2 11758553 11758553 + Silent SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_014668.3 +1 reviewed p.G1184 0.136 12 0% 18 55.6% 16 37.5% - - - NULL GREB1 9687 genome.wustl.edu 37 2 11780546 11780546 + Missense_Mutation SNP G G T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_014668.3 +1 reviewed p.R1939L 1.000 144 0% 150 48% 31 41.9% probably_damaging(0.992) deleterious(0.02) deleterious(0.831) NULL CIB4 130106 genome.wustl.edu 37 2 26818053 26818053 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001029881.1 -1 provisional p.R107C 1.000 62 0% 58 48.3% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMSmart_EFh,HMMPfam_efhand,superfamily_SSF47473 ALK 238 genome.wustl.edu 37 2 29606606 29606606 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_004304.3 -1 reviewed p.C425Y 1.000 79 0% 82 41.5% 0 - probably_damaging(0.983) deleterious(0) deleterious(0.873) NULL BIRC6 57448 genome.wustl.edu 37 2 32640284 32640284 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_016252.3 +1 reviewed p.A642V 1.000 139 0% 127 47.2% 0 - benign(0.253) tolerated(0.15) neutral(0.267) NULL LHCGR 3973 genome.wustl.edu 37 2 48925908 48925908 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_000233.3 -1 reviewed p.P238S 1.000 229 0% 145 35.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_L domain-like GPR75 10936 genome.wustl.edu 37 2 54081089 54081089 + Missense_Mutation SNP G G C novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_006794.2 -1 validated p.P269A 1.000 62 0% 71 39.4% 0 - probably_damaging(0.998) tolerated(0.32) deleterious(0.498) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like CCDC88A 55704 genome.wustl.edu 37 2 55561787 55561787 + Nonsense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001135597.1 -1 validated p.Q724* 1.000 237 0% 94 38.3% 0 - - - - NULL NAT8 9027 genome.wustl.edu 37 2 73868263 73868263 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_003960.3 -1 reviewed p.A165T 0.999 107 0% 103 42.7% 0 - possibly_damaging(0.936) deleterious(0.01) deleterious(0.787) HMMPfam_Acetyltransf_1,superfamily_Acyl_CoA_acyltransferase PCGF1 84759 genome.wustl.edu 37 2 74733345 74733345 + Silent SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_032673.2 -1 validated p.S129 0.991 92 0% 119 42.9% 43 53.4% - - - NULL POLR1A 25885 genome.wustl.edu 37 2 86305239 86305239 + Nonsense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_015425.3 -1 validated p.Q419* 1.000 114 0% 91 41.8% 3 0% - - - HMMSmart_SM00663,superfamily_beta and beta-prime subunits of DNA dependent RNA-polymerase LYG1 129530 genome.wustl.edu 37 2 99912133 99912133 + Missense_Mutation SNP T T C novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_174898.2 -1 validated p.M1V 0.912 247 0% 170 45.3% 8 62.5% unknown(0) deleterious(0) - NULL CHST10 9486 genome.wustl.edu 37 2 101009817 101009817 + Nonsense_Mutation SNP C C A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_004854.3 -1 validated p.E321* 1.000 284 0% 198 45.5% 8 37.5% - - - HMMPfam_Sulfotransfer_2 IL1RL2 8808 genome.wustl.edu 37 2 102842362 102842362 + Silent SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_003854.2 +1 reviewed p.P332 0.680 61 0% 53 49.1% 0 - - - - superfamily_SSF48726 IL1RL2 8808 genome.wustl.edu 37 2 102851709 102851709 + Silent SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_003854.2 +1 reviewed p.L550 0.001 54 0% 58 34.5% 2 100% - - - NULL NCK2 8440 genome.wustl.edu 37 2 106471637 106471637 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001004720.2 +1 reviewed p.R40W 1.000 50 0% 49 55.1% 38 47.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SH3_1,HMMSmart_SH3,superfamily_SH3 LIMS1 3987 genome.wustl.edu 37 2 109294484 109294487 + Splice_Site DEL GTAA GTAA - novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 GTAA GTAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_004987.3 +1 reviewed e7+1 1.000:1.000 - - - - - - - - - - POLR1B 84172 genome.wustl.edu 37 2 113315619 113315619 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_019014.4 +1 validated p.E431K 1.000 98 0% 41 41.5% 1 100% probably_damaging(0.99) deleterious(0.01) deleterious(0.847) superfamily_beta and beta-prime subunits of DNA dependent RNA-polymerase POLR1B 84172 genome.wustl.edu 37 2 113330184 113330184 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_019014.4 +1 validated p.S707L 1.000 173 0% 95 40% 5 60% benign(0.07) deleterious(0.03) neutral(0.369) HMMPfam_RNA_pol_Rpb2_6,superfamily_beta and beta-prime subunits of DNA dependent RNA-polymerase SLC20A1 6574 genome.wustl.edu 37 2 113416607 113416608 + Frame_Shift_Del DEL AG AG - novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_005415.3 +1 provisional p.R332fs 0.023:0.531 - - - - - - - - - HMMPfam_PHO4 PTPN4 5775 genome.wustl.edu 37 2 120677746 120677746 + Silent SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_002830.2 +1 reviewed p.L310 1.000 237 0% 147 48.3% 3 0% - - - HMMPfam_FERM_C,superfamily_SSF50729 MYO7B 4648 genome.wustl.edu 37 2 128327424 128327424 + Silent SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001080527.1 +1 provisional p.T177 0.003 16 0% 61 31.1% 0 - - - - HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases LOC653269 653269 genome.wustl.edu 37 2 131220767 131220767 + Silent SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb XM_928585.2 -1 model p.I950 1.000 56 0% 79 46.8% 0 - - - - HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain MCM6 4175 genome.wustl.edu 37 2 136624275 136624275 + Silent SNP A A T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_005915.4 -1 reviewed p.A213 0.776 253 0% 203 38.4% 20 45% - - - HMMSmart_SM00350,superfamily_Nucleic acid-binding proteins THSD7B 80731 genome.wustl.edu 37 2 138425349 138425349 + Nonsense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001080427.1 +1 provisional p.R1524* 0.999 21 0% 19 31.6% 0 - - - - NULL MBD5 55777 genome.wustl.edu 37 2 149247126 149247126 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_018328.4 +1 reviewed p.V1076I 0.000 129 0% 127 52% 3 0% unknown(0) deleterious(0) - NULL KIF5C 3800 genome.wustl.edu 37 2 149854983 149854983 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb ENST00000435030 +1 known p.E724K 1.000 13 0.000 8 0.750 0 - probably_damaging(0.997) deleterious(0.01) deleterious(0.872) NULL NR4A2 4929 genome.wustl.edu 37 2 157186121 157186121 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_006186.3 -1 reviewed p.R193H 1.000 40 0% 35 45.7% 2 0% probably_damaging(0.999) tolerated(0.09) deleterious(0.787) NULL TANC1 85461 genome.wustl.edu 37 2 160053278 160053278 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_033394.2 +1 validated p.A1047T 1.000 32 0% 38 36.8% 8 37.5% probably_damaging(0.997) deleterious(0.02) deleterious(0.849) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat SCN9A 6335 genome.wustl.edu 37 2 167108386 167108386 + Missense_Mutation SNP G G A rs190664764 by1000genomes TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_002977.3 -1 reviewed p.R1110W 0.012 69 0% 55 34.5% 2 0% possibly_damaging(0.732) deleterious(0.01) deleterious(0.673) HMMPfam_Na_trans_assoc SP3 6670 genome.wustl.edu 37 2 174774770 174774770 + Nonsense_Mutation SNP C C A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_003111.4 -1 reviewed p.G749* 1.000 332 0% 160 43.1% 29 55.1% - - - NULL COL3A1 1281 genome.wustl.edu 37 2 189867044 189867044 + Silent SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_000090.3 +1 reviewed p.G804 0.257 56 0% 35 40% 53 0% - - - HMMPfam_Collagen ASNSD1 54529 genome.wustl.edu 37 2 190530860 190530860 + Missense_Mutation SNP T T C novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_019048.2 +1 validated p.M1T 1.000 216 0% 120 40.8% 11 63.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ANKRD44 91526 genome.wustl.edu 37 2 197943382 197943383 + Frame_Shift_Ins INS - - TG novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb ENST00000409153 -1 known p.T566fs 0.000:0.001 - - - - - - - - - superfamily_ANK WDR12 55759 genome.wustl.edu 37 2 203760861 203760861 + Missense_Mutation SNP A A C novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_018256.3 -1 reviewed p.V179G 1.000 147 0% 121 47.9% 17 23.5% benign(0.123) deleterious(0) neutral(0.455) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 TNS1 7145 genome.wustl.edu 37 2 218677119 218677119 + Silent SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_022648.4 -1 reviewed p.L1564 1.000 47 0% 35 54.3% 3 66.6% - - - superfamily_SSF55550 ZNF142 7701 genome.wustl.edu 37 2 219508394 219508394 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001105537.1 -1 validated p.P949S 0.013 215 0% 136 44.1% 5 40% possibly_damaging(0.89) deleterious(0) deleterious(0.794) NULL CYP27A1 1593 genome.wustl.edu 37 2 219677340 219677340 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_000784.3 +1 reviewed p.V238M 0.001 349 0.3% 328 46% 43 48.8% possibly_damaging(0.568) tolerated(0.09) deleterious(0.491) HMMPfam_p450,superfamily_Cytochrome P450 ABCB6 10058 genome.wustl.edu 37 2 220078657 220078657 + Nonsense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb ENST00000295750 -1 known p.R338* 0.994 104 0% 102 47.1% 32 40.6% possibly_damaging(0.749) deleterious(0.04) deleterious(0.624) HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain SPEG 10290 genome.wustl.edu 37 2 220353316 220353316 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_005876.4 +1 validated p.A2652V 0.977 32 0% 23 47.8% 0 - possibly_damaging(0.842) tolerated(0.36) neutral(0.342) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin OBSL1 23363 genome.wustl.edu 37 2 220428170 220428170 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_015311.2 -1 reviewed p.R863C 0.974 54 0% 44 43.2% 210 50% possibly_damaging(0.832) deleterious(0) deleterious(0.762) HMMSmart_IG,HMMPfam_ig,superfamily_SSF48726 SCG2 7857 genome.wustl.edu 37 2 224463569 224463569 + Silent SNP T T C novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_003469.3 -1 reviewed p.P144 0.001 738 0% 447 43% 0 - - - - HMMPfam_Granin IRS1 3667 genome.wustl.edu 37 2 227660691 227660691 + Missense_Mutation SNP T T C novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_005544.2 -1 reviewed p.R922G 0.516 68 0% 44 38.6% 2 0% probably_damaging(0.968) tolerated(0.14) deleterious(0.659) NULL SLC16A14 151473 genome.wustl.edu 37 2 230914620 230914620 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_152527.4 -1 validated p.G87D 1.000 148 0% 131 42% 2 100% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_MFS_1,superfamily_MFS general substrate transporter CAB39 51719 genome.wustl.edu 37 2 231624754 231624754 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001130849.1 +1 validated p.A13V 1.000 95 0% 92 31.5% 6 33.3% benign(0.023) tolerated(0.2) neutral(0.050) HMMPfam_Mo25,superfamily_ARM repeat CHRND 1144 genome.wustl.edu 37 2 233399886 233399886 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_000751.1 +1 reviewed p.C473Y 1.000 77 0% 54 24.1% 0 - probably_damaging(0.998) tolerated(0.18) deleterious(0.530) HMMPfam_Neur_chan_memb,superfamily_Neurotransmitter-gated ion-channel transmembrane pore DGKD 8527 genome.wustl.edu 37 2 234344527 234344527 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_152879.2 +1 reviewed p.T217I 1.000 92 0% 61 47.5% 2 0% probably_damaging(0.971) deleterious(0) deleterious(0.857) superfamily_Cysteine-rich domain SEC13 6396 genome.wustl.edu 37 3 10346791 10346791 + Missense_Mutation SNP T T G novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_183352.1 -1 reviewed p.S212R 1.000 67 0% 66 47% 482 50.4% probably_damaging(0.997) deleterious(0.04) deleterious(0.815) HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40 HRH1 3269 genome.wustl.edu 37 3 11300961 11300961 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_000861.3 +1 reviewed p.V80I 1.000 164 0% 153 43.8% 2 50% probably_damaging(0.994) tolerated(0.06) deleterious(0.774) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like IQSEC1 9922 genome.wustl.edu 37 3 12950010 12950010 + Missense_Mutation SNP T T C novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_014869.4 -1 validated p.Q879R 1.000 33 0% 18 33.3% 4 25% possibly_damaging(0.819) deleterious(0.01) deleterious(0.715) NULL FGD5 152273 genome.wustl.edu 37 3 14940265 14940265 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_152536.3 +1 validated p.S1029N 0.624 11 0% 10 60% 0 - benign(0) tolerated(0.56) neutral(0.006) HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) FGD5 152273 genome.wustl.edu 37 3 14974177 14974177 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_152536.3 +1 validated p.L1431F 1.000 198 0% 146 38.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like ZNF860 344787 genome.wustl.edu 37 3 32031756 32031756 + Silent SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001137674.1 +1 provisional p.G395 1.000 218 0% 154 44.8% 2 0% - - - superfamily_SSF57667 CCBP2 1238 genome.wustl.edu 37 3 42906895 42906895 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001296.4 +1 reviewed p.A301T 0.999 442 0.5% 518 47.5% 2 0% probably_damaging(0.995) deleterious(0.03) deleterious(0.822) HMMPfam_7tm_1,superfamily_SSF81321 ZNF445 353274 genome.wustl.edu 37 3 44489342 44489342 + Silent SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_181489.5 -1 validated p.H607 1.000 124 0% 126 49.2% 1 0% - - - PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 FYCO1 79443 genome.wustl.edu 37 3 45996853 45996853 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_024513.2 -1 validated p.A1278T 0.886 137 0% 114 44.7% 3 0% probably_damaging(0.998) deleterious(0.03) deleterious(0.839) NULL SETD2 29072 genome.wustl.edu 37 3 47164123 47164123 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_014159.6 -1 reviewed p.P668L 0.999 215 0% 121 37.2% 0 - possibly_damaging(0.65) tolerated(0.08) deleterious(0.528) NULL PLXNB1 5364 genome.wustl.edu 37 3 48462318 48462318 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001130082.1 -1 validated p.A620T 0.137 39 0% 50 46% 25 32% benign(0.003) tolerated(0.4) neutral(0.016) NULL PLXNB1 5364 genome.wustl.edu 37 3 48462729 48462729 + Missense_Mutation SNP C C A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001130082.1 -1 validated p.G573V 1.000 107 0% 86 44.2% 18 50% possibly_damaging(0.904) deleterious(0) deleterious(0.803) NULL CELSR3 1951 genome.wustl.edu 37 3 48698223 48698224 + Frame_Shift_Del DEL CT CT - novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 CT CT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001407.2 -1 reviewed p.E615fs 1.000:1.000 - - - - - - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like LAMB2 3913 genome.wustl.edu 37 3 49162782 49162782 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_002292.3 -1 reviewed p.R875Q 1.000 71 0% 63 47.6% 38 47.3% benign(0.031) tolerated(1) neutral(0.002) PatternScan_EGF_LAM_1,superfamily_SSF57196 IP6K1 9807 genome.wustl.edu 37 3 49764848 49764848 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_153273.3 -1 reviewed p.R345W 0.941 23 0% 30 53.3% 10 50% benign(0.003) tolerated(0.06) neutral(0.323) HMMPfam_IPK,superfamily_SAICAR synthase-like MON1A 84315 genome.wustl.edu 37 3 49948257 49948257 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_032355.3 -1 validated p.T322M 1.000 13 0% 15 46.7% 6 33.3% probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_Mon1 TMEM115 11070 genome.wustl.edu 37 3 50392824 50392824 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_007024.4 -1 validated p.A336T 0.979 17 0% 24 37.5% 103 45.6% benign(0) tolerated(0.76) neutral(0.001) NULL PCBP4 57060 genome.wustl.edu 37 3 51992316 51992316 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_020418.3 -1 reviewed p.A346T 0.976 22 0.000 8 0.500 68 38.2% benign(0) tolerated(0.12) neutral(0.261) NULL GNL3 26354 genome.wustl.edu 37 3 52727456 52727456 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_014366.4 +1 validated p.T407I 0.786 321 0% 129 42.6% 172 42.4% benign(0.246) deleterious(0.02) neutral(0.408) NULL ITIH4 3700 genome.wustl.edu 37 3 52854721 52854721 + Missense_Mutation SNP G G T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_002218.4 -1 reviewed p.P587H 0.997 36 0% 27 44.4% 4 75% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PTPRG 5793 genome.wustl.edu 37 3 62216903 62216903 + Missense_Mutation SNP T T C novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_002841.3 +1 reviewed p.C765R 1.000 66 0% 64 35.9% 0 - benign(0.255) deleterious(0.05) neutral(0.372) NULL CADPS 8618 genome.wustl.edu 37 3 62631414 62631414 + Silent SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_003716.3 -1 reviewed p.A436 0.095 211 0% 179 43% 0 - - - - HMMPfam_C2 OR5H15 403274 genome.wustl.edu 37 3 97887622 97887622 + Missense_Mutation SNP C C A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001005515.1 +1 provisional p.L27M 0.008 640 0% 420 42.1% 0 - possibly_damaging(0.947) deleterious(0.01) deleterious(0.796) superfamily_SSF81321 ZPLD1 131368 genome.wustl.edu 37 3 102153987 102153987 + Missense_Mutation SNP G G T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_175056.1 +1 provisional p.G10V 0.003 148 0% 62 43.5% 0 - possibly_damaging(0.931) - - NULL CBLB 868 genome.wustl.edu 37 3 105422965 105422965 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_170662.3 -1 validated p.A487V 0.184 99 0% 62 33.9% 9 44.4% benign(0.011) tolerated(0.07) neutral(0.320) NULL GUCA1C 9626 genome.wustl.edu 37 3 108626930 108626930 + Missense_Mutation SNP A A G novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_005459.3 -1 validated p.M190T 0.004 126 0% 66 31.8% 0 - benign(0) tolerated(0.75) neutral(0.002) NULL PLXND1 23129 genome.wustl.edu 37 3 129286424 129286427 + Frame_Shift_Del DEL TGTC TGTC - novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 TGTC TGTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_015103.2 -1 validated p.D1332fs 1.000:1.000:1.000:1.000 - - - - - - - - - NULL AMOTL2 51421 genome.wustl.edu 37 3 134089809 134089809 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_016201.2 -1 reviewed p.R156H 1.000 6 0.000 10 0.800 7 42.8% probably_damaging(1) deleterious(0.05) deleterious(0.845) NULL XRN1 54464 genome.wustl.edu 37 3 142031595 142031595 + Missense_Mutation SNP T T C novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_019001.3 -1 validated p.I1555V 0.985 329 0% 180 45.6% 2 50% benign(0.012) tolerated(0.39) neutral(0.017) NULL AGTR1 185 genome.wustl.edu 37 3 148459561 148459561 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_000685.4 +1 reviewed p.L247F 1.000 219 0% 114 37.7% 0 - benign(0.04) tolerated(0.06) neutral(0.325) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like TNIK 23043 genome.wustl.edu 37 3 170884920 170884920 + Missense_Mutation SNP G G T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_015028.2 -1 validated p.H305N 1.000 47 0% 32 50% 3 0% possibly_damaging(0.946) deleterious(0) deleterious(0.835) superfamily_Protein kinase-like (PK-like) PIK3CA 5290 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G rs121913279 byCluster TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_006218.2 +1 reviewed p.H1047R 1.000 168 0% 153 37.3% 15 26.6% possibly_damaging(0.926) deleterious(0.03) deleterious(0.739) HMMSmart_PI3Kc,superfamily_Kinase_like ACTL6A 86 genome.wustl.edu 37 3 179294018 179294018 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_004301.3 +1 reviewed p.R164C 1.000 143 0% 70 37.1% 36 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain DVL3 1857 genome.wustl.edu 37 3 183882616 183882616 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_004423.3 +1 reviewed p.R166W 1.000 146 0% 70 38.6% 33 45.4% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Dishevelled GP5 2814 genome.wustl.edu 37 3 194118305 194118305 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_004488.2 -1 validated p.G236E 0.015 167 0% 55 34.5% 0 - probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_LRR_1,HMMSmart_LRR_TYP,superfamily_SSF52058 CEP19 84984 genome.wustl.edu 37 3 196434521 196434523 + In_Frame_Del DEL CTT CTT - novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_032898.3 -1 validated p.K135in_frame_del 0.995:1.000:1.000 - - - - - - - - - NULL WHSC2 7469 genome.wustl.edu 37 4 1985323 1985323 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_005663.3 -1 reviewed p.E479K 1.000 43 0% 23 39.1% 87 44.8% possibly_damaging(0.945) deleterious(0.03) deleterious(0.754) NULL DRD5 1816 genome.wustl.edu 37 4 9784937 9784937 + Silent SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_000798.4 +1 reviewed p.D428 0.445 70 0% 67 49.3% 0 - - - - NULL BEND4 389206 genome.wustl.edu 37 4 42119672 42119672 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_207406.3 -1 validated p.A490T 0.996 12 0% 11 54.5% 0 - possibly_damaging(0.643) deleterious(0) deleterious(0.670) HMMPfam_BEN GNPDA2 132789 genome.wustl.edu 37 4 44713031 44713031 + Missense_Mutation SNP A A G novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_138335.1 -1 provisional p.L178S 1.000 193 0% 130 47.7% 11 45.4% benign(0.126) deleterious(0) neutral(0.455) HMMPfam_Glucosamine_iso,superfamily_NagB/RpiA/CoA transferase-like LRRC66 339977 genome.wustl.edu 37 4 52862253 52862253 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001024611.1 -1 provisional p.R312H 0.000 91 0% 58 44.8% 6 66.6% benign(0) tolerated(0.4) neutral(0.016) NULL EXOC1 55763 genome.wustl.edu 37 4 56768654 56768654 + Missense_Mutation SNP C C A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001024924.1 +1 reviewed p.L828I 1.000 111 0% 74 45.9% 26 53.8% probably_damaging(0.982) deleterious(0) deleterious(0.871) HMMPfam_Sec3 EPHA5 2044 genome.wustl.edu 37 4 66361207 66361207 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_004439.5 -1 reviewed p.C322Y 1.000 282 0.4% 235 39.1% 0 - probably_damaging(0.987) deleterious(0) deleterious(0.881) NULL COX18 285521 genome.wustl.edu 37 4 73927617 73927617 + Frame_Shift_Del DEL A A - novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_173827.2 -1 validated p.I247fs 0.002 - - - - - - - - - HMMPfam_60KD_IMP ENSG00000245879 0 genome.wustl.edu 37 4 74964407 74964407 + RNA SNP G G T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb ENST00000500608 +1 known NULL 0.997 103 0% 74 20.3% 2 100% - - - - FRAS1 80144 genome.wustl.edu 37 4 79458198 79458198 + Missense_Mutation SNP T T A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_025074.6 +1 reviewed p.N3713K 1.000 197 0% 156 53.2% 0 - benign(0.001) tolerated(0.21) neutral(0.044) NULL WDFY3 23001 genome.wustl.edu 37 4 85594131 85594131 + Nonsense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_014991.4 -1 reviewed p.Q3491* 1.000 227 0% 149 47.7% 32 43.7% - - - HMMPfam_FYVE,HMMSmart_SM00064,superfamily_FYVE/PHD zinc finger ARSJ 79642 genome.wustl.edu 37 4 114824027 114824027 + Silent SNP A A G novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_024590.3 -1 validated p.Y401 0.922 222 0% 190 41.6% 2 100% - - - HMMPfam_Sulfatase,superfamily_Alkaline phosphatase-like ANKRD50 57182 genome.wustl.edu 37 4 125590323 125590323 + Missense_Mutation SNP T T C novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_020337.2 -1 validated p.Q1370R 1.000 353 0% 263 39.2% 5 60% probably_damaging(0.994) deleterious(0.04) deleterious(0.801) NULL FGA 2243 genome.wustl.edu 37 4 155505774 155505774 + Silent SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_000508.3 -1 reviewed p.D701 0.853 206 0% 213 44.1% 0 - - - - HMMPfam_Fibrinogen_C,HMMSmart_SM00186,superfamily_Fibrinogen C-terminal domain-like GRIA2 2891 genome.wustl.edu 37 4 158142953 158142953 + Missense_Mutation SNP A A G novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_000826.3 +1 reviewed p.N75D 1.000 82 0% 79 43% 0 - benign(0.001) tolerated(0.14) neutral(0.249) HMMPfam_ANF_receptor,superfamily_SSF53822 TLR3 7098 genome.wustl.edu 37 4 186997960 186997960 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_003265.2 +1 reviewed p.L63F 1.000 109 0% 134 47% 2 0% benign(0.09) deleterious(0.01) neutral(0.412) HMMPfam_LRR_1,superfamily_SSF52058 FAT1 2195 genome.wustl.edu 37 4 187524699 187524699 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_005245.3 -1 reviewed p.R3661C 1.000 61 0% 44 34.1% 23 34.7% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Concanavalin A-like lectins/glucanases FAT1 2195 genome.wustl.edu 37 4 187527266 187527266 + Silent SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_005245.3 -1 reviewed p.N3436 0.124 165 0% 114 41.2% 14 50% - - - HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like FAT1 2195 genome.wustl.edu 37 4 187539448 187539448 + Missense_Mutation SNP C C G novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_005245.3 -1 reviewed p.K2764N 0.999 352 0% 203 37.4% 8 37.5% probably_damaging(0.999) tolerated(0.1) deleterious(0.777) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like TRIML1 339976 genome.wustl.edu 37 4 189060900 189060900 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_178556.3 +1 provisional p.P63L 0.011 50 0% 98 44.9% 0 - possibly_damaging(0.925) tolerated(0.23) neutral(0.415) superfamily_SSF57850 NSUN2 54888 genome.wustl.edu 37 5 6600070 6600070 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_017755.4 -1 validated p.C758Y 0.004 103 0% 143 46.2% 91 41.7% benign(0.075) deleterious(0.04) neutral(0.354) NULL ANKH 56172 genome.wustl.edu 37 5 14769183 14769183 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_054027.4 -1 reviewed p.V72M 1.000 135 0% 106 37.7% 19 57.8% probably_damaging(0.996) deleterious(0.03) deleterious(0.826) HMMPfam_ANKH FBXL7 23194 genome.wustl.edu 37 5 15928198 15928198 + Missense_Mutation SNP G G T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_012304.3 +1 reviewed p.K109N 0.968 61 0% 66 51.5% 0 - benign(0.002) tolerated(0.65) neutral(0.003) NULL ZNF622 90441 genome.wustl.edu 37 5 16465474 16465474 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_033414.2 -1 provisional p.A101T 1.000 167 0% 122 42.6% 40 37.5% benign(0.271) tolerated(0.5) neutral(0.039) NULL PDZD2 23037 genome.wustl.edu 37 5 32089450 32089450 + Missense_Mutation SNP A A G novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_178140.2 +1 reviewed p.T1966A 0.001 92 0% 130 43.1% 0 - benign(0) tolerated(1) - NULL SNX18 112574 genome.wustl.edu 37 5 53814853 53814853 + Silent SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_052870.2 +1 reviewed p.I357 0.852 32 0% 22 40.9% 4 50% - - - HMMPfam_PX,HMMSmart_SM00312,superfamily_PX domain PDE4D 5144 genome.wustl.edu 37 5 58882193 58882193 + Silent SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_006203.4 -1 validated p.H3 0.997 382 0% 221 43.9% 0 - - - - NULL ZNF366 167465 genome.wustl.edu 37 5 71739932 71739932 + Missense_Mutation SNP T T G novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_152625.1 -1 provisional p.E629A 0.006 94 0% 82 45.1% 0 - benign(0.036) deleterious(0.02) neutral(0.385) NULL POU5F2 134187 genome.wustl.edu 37 5 93076428 93076428 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_153216.1 -1 provisional p.A281V 0.000 41 0% 72 37.5% 0 - - - - superfamily_Homeodomain_like MCTP1 79772 genome.wustl.edu 37 5 94248613 94248613 + Silent SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb ENST00000503301 -1 known p.H236Y 1.000 223 0% 147 36.7% 0 - - - - HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) PPIP5K2 23262 genome.wustl.edu 37 5 102484895 102484895 + Silent SNP C C A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_015216.2 +1 provisional p.R262 1.000 165 0% 98 38.8% 0 - - - - superfamily_SSF56059 FBXL17 64839 genome.wustl.edu 37 5 107521920 107521920 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb ENST00000496714 -1 known p.R150H 1.000 81 0% 31 38.7% 5 40% probably_damaging(0.999) deleterious(0.04) deleterious(0.839) superfamily_SSF52047 ZNF608 57507 genome.wustl.edu 37 5 123979362 123979363 + Frame_Shift_Del DEL GA GA - novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 GA GA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_020747.2 -1 validated p.P1380fs 1.000:0.996 - - - - - - - - - NULL RAPGEF6 51735 genome.wustl.edu 37 5 130883836 130883836 + Silent SNP A A T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_016340.5 -1 validated p.I133 1.000 204 0% 117 44.4% 0 - - - - NULL FNIP1 96459 genome.wustl.edu 37 5 131007632 131007632 + Silent SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb ENST00000513722 -1 known p.S629L 1.000 329 0% 233 38.2% 2 50% - - - NULL HARS 3035 genome.wustl.edu 37 5 140057274 140057274 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_002109.3 -1 reviewed p.R232H 1.000 173 0% 116 41.4% 81 37% benign(0.152) deleterious(0.02) neutral(0.397) HMMPfam_tRNA-synt_2b,superfamily_SSF55681 PCDHA3 56145 genome.wustl.edu 37 5 140182516 140182516 + Silent SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_018906.2 +1 reviewed p.S578 0.000 47 0% 72 44.4% 3 0% - - - HMMPfam_Cadherin,superfamily_Cadherin-like PCDHA8 56140 genome.wustl.edu 37 5 140221198 140221198 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_018911.2 +1 reviewed p.R98W 0.001 171 0% 177 35% 0 - benign(0.039) deleterious(0.05) neutral(0.347) HMMSmart_SM00112,HMMPfam_Cadherin_2,superfamily_Cadherin-like PCDHB5 26167 genome.wustl.edu 37 5 140517169 140517169 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_015669.2 +1 reviewed p.A718V 0.000 174 0% 238 44.5% 0 - benign(0.135) tolerated(0.06) neutral(0.334) NULL PCDHB6 56130 genome.wustl.edu 37 5 140531614 140531614 + Silent SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_018939.2 +1 reviewed p.G592 0.996 74 0% 142 40.1% 0 - - - - HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHB16 57717 genome.wustl.edu 37 5 140563515 140563515 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_020957.1 +1 reviewed p.R461C 0.046 263 0% 259 37.8% 1 100% benign(0.188) deleterious(0.05) neutral(0.363) HMMPfam_Cadherin,superfamily_Cadherin PCDHGA3 56112 genome.wustl.edu 37 5 140724459 140724459 + Missense_Mutation SNP A A G novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_018916.3 +1 reviewed p.K287E 0.107 94 0% 129 46.5% 0 - benign(0.023) tolerated(0.27) neutral(0.035) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGB6 56100 genome.wustl.edu 37 5 140789380 140789380 + Silent SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_018926.2 +1 reviewed p.H537 0.234 19 0% 23 26.1% 1 0% - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like SPINK5 11005 genome.wustl.edu 37 5 147498547 147498547 + Splice_Site SNP A A G novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001127698.1 +1 reviewed e24-2 0.056 114 0% 83 42.2% 0 - - - - - ATP10B 23120 genome.wustl.edu 37 5 160115033 160115033 + Missense_Mutation SNP T T C novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_025153.2 -1 validated p.R17G 0.000 95 0% 118 50% 0 - benign(0) tolerated(0.21) neutral(0.044) NULL FBXW11 23291 genome.wustl.edu 37 5 171337690 171337690 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_012300.2 -1 reviewed p.D87N 1.000 135 0% 89 32.6% 1 0% benign(0.176) tolerated(0.05) neutral(0.361) NULL STC2 8614 genome.wustl.edu 37 5 172750287 172750287 + Silent SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_003714.2 -1 reviewed p.A147 0.001 63 0% 63 49.2% 27 44.4% - - - HMMPfam_Stanniocalcin N4BP3 23138 genome.wustl.edu 37 5 177547388 177547388 + Silent SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_015111.1 +1 validated p.G180 0.004 10 0% 10 70% 8 25% - - - NULL TBC1D9B 23061 genome.wustl.edu 37 5 179318540 179318540 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_198868.2 -1 validated p.R295W 1.000 37 0% 40 40% 18 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_GRAM,HMMSmart_SM00568 GCNT2 2651 genome.wustl.edu 37 6 10557032 10557032 + Missense_Mutation SNP G G A rs56318832 TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001491.2 +1 reviewed p.V126M 1.000 385 0% 369 44.2% 0 - possibly_damaging(0.595) deleterious(0.02) deleterious(0.589) HMMPfam_Branch NEDD9 4739 genome.wustl.edu 37 6 11191425 11191425 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001142393.1 -1 validated p.P226L 0.999 62 0% 66 50% 4 25% benign(0.002) deleterious(0) neutral(0.445) NULL GFOD1 54438 genome.wustl.edu 37 6 13365349 13365349 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_018988.2 -1 provisional p.G267R 1.000 16 0% 28 39.3% 4 100% possibly_damaging(0.919) tolerated(0.07) deleterious(0.689) superfamily_Glyceraldehyde-3-phosphate dehydrogenase-like C-terminal domain CAP2 10486 genome.wustl.edu 37 6 17421798 17421798 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_006366.2 +1 reviewed p.M4I 1.000 171 0% 130 50.8% 0 - benign(0.032) tolerated(0.18) neutral(0.058) HMMPfam_CAP_N NRSN1 140767 genome.wustl.edu 37 6 24145982 24145982 + Silent SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_080723.4 +1 validated p.G132 1.000 158 0% 127 37.8% 0 - - - - NULL HIST1H2BD 3017 genome.wustl.edu 37 6 26158501 26158501 + Missense_Mutation SNP A A G novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_021063.2 +1 reviewed p.K35R 1.000 142 0% 164 44.5% 65 40% possibly_damaging(0.777) tolerated(0.06) deleterious(0.613) HMMSmart_SM00427,HMMPfam_Histone,superfamily_Histone-fold HIST1H2BE 8344 genome.wustl.edu 37 6 26184286 26184286 + Missense_Mutation SNP C C T rs191131837 by1000genomes TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_003523.2 +1 reviewed p.S88L 1.000 120 0% 161 41% 4 0% benign(0.036) deleterious(0.03) neutral(0.366) HMMSmart_SM00427,HMMPfam_Histone,superfamily_Histone-fold BTN2A2 10385 genome.wustl.edu 37 6 26392629 26392629 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_006995.3 +1 reviewed p.A336T 0.998 185 0% 156 46.8% 6 16.6% probably_damaging(0.984) deleterious(0) deleterious(0.875) HMMSmart_SM00589 ZNF391 346157 genome.wustl.edu 37 6 27369058 27369058 + Silent SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001076781.1 +1 validated p.K303 0.936 187 0% 153 36.6% 3 66.6% - - - superfamily_C2H2 and C2HC zinc fingers OR2B2 81697 genome.wustl.edu 37 6 27879356 27879356 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_033057.2 -1 validated p.V248M 0.331 256 0% 281 42.3% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like PGBD1 84547 genome.wustl.edu 37 6 28268674 28268674 + Missense_Mutation SNP C C A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_032507.3 +1 reviewed p.A348D 1.000 229 0% 186 39.8% 5 40% probably_damaging(0.962) tolerated(0.08) deleterious(0.705) NULL RNF39 80352 genome.wustl.edu 37 6 30043429 30043429 + Silent SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_025236.3 -1 validated p.P46 0.085 42 2.4% 51 39.2% 10 60% - - - NULL VARS 7407 genome.wustl.edu 37 6 31753448 31753448 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_006295.2 -1 reviewed p.T388I 1.000 20 0% 22 45.5% 40 52.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_tRNA-synt_1,superfamily_Nucleotidylyl transferase PPT2 9374 genome.wustl.edu 37 6 32130627 32130627 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_138717.1 +1 reviewed p.R276Q 1.000 200 0% 92 40.2% 7 85.7% probably_damaging(0.989) tolerated(0.36) neutral(0.460) HMMPfam_Palm_thioest,superfamily_alpha/beta-Hydrolases COL11A2 1302 genome.wustl.edu 37 6 33147515 33147515 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_080680.2 -1 reviewed p.A476V 0.998 20 0% 26 34.6% 0 - benign(0.036) tolerated(0.15) neutral(0.243) NULL ITPR3 3710 genome.wustl.edu 37 6 33646519 33646519 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_002224.2 +1 validated p.T1292M 1.000 6 0.000 6 0.833 26 73% probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_RYDR_ITPR SNRPC 6631 genome.wustl.edu 37 6 34735775 34735775 + Splice_Site SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_003093.2 +1 reviewed e4+1 1.000 84 0% 64 45.3% 0 - - - - - PGC 5225 genome.wustl.edu 37 6 41715044 41715044 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_002630.3 -1 reviewed p.C10Y 1.000 39 0% 40 40% 0 - benign(0.065) deleterious(0.01) neutral(0.410) superfamily_Pept_Aspartic CUL7 9820 genome.wustl.edu 37 6 43008685 43008685 + Missense_Mutation SNP C C A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_014780.4 -1 reviewed p.L1258F 1.000 33 0% 32 50% 24 50% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_Cullin,superfamily_Cullin_homology MRPL2 51069 genome.wustl.edu 37 6 43023660 43023660 + Silent SNP C C A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_015950.3 -1 reviewed p.R202 0.984 46 0% 59 39% 129 48.8% - - - HMMPfam_Ribosomal_L2_C,superfamily_Transl_SH3_like TCTE1 202500 genome.wustl.edu 37 6 44247986 44247986 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_182539.3 -1 validated p.R480W 0.917 75 0% 43 55.8% 0 - benign(0.382) - - superfamily_SSF52047 PKHD1 5314 genome.wustl.edu 37 6 51524037 51524037 + Silent SNP A A G novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_138694.3 -1 reviewed p.S3629 0.000 325 0% 243 44.9% 0 - - - - NULL TRAM2 9697 genome.wustl.edu 37 6 52370482 52370482 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_012288.3 -1 reviewed p.V264M 0.999 119 0% 109 53.2% 1 100% possibly_damaging(0.843) deleterious(0.01) deleterious(0.729) HMMPfam_TRAM_LAG1_CLN8,HMMSmart_SM00724 DST 667 genome.wustl.edu 37 6 56329501 56329501 + Missense_Mutation SNP T T C novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb ENST00000370769 -1 known p.T7345A 1.000 43 0% 41 41.5% 0 - benign(0.349) - - NULL DST 667 genome.wustl.edu 37 6 56470905 56470905 + Frame_Shift_Del DEL C C - novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb ENST00000370769 -1 known p.A2630fs 0.000 - - - - - - - - - NULL COL12A1 1303 genome.wustl.edu 37 6 75828890 75828890 + Missense_Mutation SNP G G A rs141593495 by1000genomes TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_004370.5 -1 reviewed p.T2408M 0.992 128 0% 114 48.2% 3 0% probably_damaging(0.999) - - HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like MDN1 23195 genome.wustl.edu 37 6 90468058 90468058 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_014611.1 -1 provisional p.R873Q 1.000 53 0% 29 44.8% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00382,HMMPfam_AAA_5,superfamily_P-loop containing nucleoside triphosphate hydrolases MICAL1 64780 genome.wustl.edu 37 6 109773563 109773563 + Missense_Mutation SNP T T C novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_022765.3 -1 validated p.I240V 1.000 78 0% 52 53.8% 4 50% possibly_damaging(0.871) deleterious(0) deleterious(0.783) superfamily_FAD/NAD(P)-binding domain SOGA3 387104 genome.wustl.edu 37 6 127796470 127796470 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001012279.2 -1 validated p.R901C 0.008 16 0% 30 43.3% 0 - probably_damaging(0.997) deleterious(0.01) deleterious(0.872) NULL MAP3K5 4217 genome.wustl.edu 37 6 136913359 136913359 + Silent SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_005923.3 -1 reviewed p.T1059 0.005 260 0.4% 167 44.3% 5 20% - - - NULL UTRN 7402 genome.wustl.edu 37 6 145161876 145161876 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_007124.2 +1 reviewed p.A3393V 0.052 55 0% 44 50% 18 16.6% benign(0.02) tolerated(0.57) neutral(0.007) NULL PLEKHG1 57480 genome.wustl.edu 37 6 151121977 151121977 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001029884.1 +1 provisional p.R251Q 1.000 134 0% 111 52.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) SYTL3 94120 genome.wustl.edu 37 6 159084396 159084396 + Missense_Mutation SNP G G T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001009991.2 +1 validated p.E32D 1.000 32 0% 39 46.2% 3 33.3% possibly_damaging(0.574) tolerated(0.33) neutral(0.221) superfamily_FYVE/PHD zinc finger IGF2R 3482 genome.wustl.edu 37 6 160494395 160494395 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_000876.2 +1 reviewed p.C1614Y 1.000 70 0% 68 41.2% 9 55.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_CIMR,superfamily_Mannose 6-phosphate receptor domain SLC22A3 6581 genome.wustl.edu 37 6 160831809 160831809 + Missense_Mutation SNP T T A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_021977.2 +1 reviewed p.D302E 0.556 116 0.9% 82 36.6% 0 - benign(0) tolerated(1) - HMMPfam_MFS_1,superfamily_MFS general substrate transporter MAP3K4 4216 genome.wustl.edu 37 6 161470229 161470229 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_005922.2 +1 reviewed p.A309T 0.761 278 0% 214 48.1% 3 0% benign(0.153) tolerated(0.32) neutral(0.037) NULL GPR146 115330 genome.wustl.edu 37 7 1097715 1097715 + Silent SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_138445.2 +1 provisional p.D188 0.993 12 0% 14 64.3% 10 40% - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like SDK1 221935 genome.wustl.edu 37 7 4167089 4167089 + Silent SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_152744.3 +1 validated p.V1300 0.605 182 0% 187 44.4% 0 - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III PAPOLB 56903 genome.wustl.edu 37 7 4900522 4900522 + Missense_Mutation SNP G G T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_020144.4 -1 validated p.P307H 1.000 391 0.3% 308 39.6% 0 - benign(0.217) tolerated(0.15) neutral(0.263) HMMPfam_PAP_central,superfamily_SSF81631 RSPH10B 222967 genome.wustl.edu 37 7 6005297 6005297 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_173565.3 -1 validated p.A101T 0.998 136 0% 87 31% 0 - probably_damaging(0.966) tolerated(0.11) deleterious(0.679) HMMPfam_MORN,superfamily_SSF82185 NUPL2 11097 genome.wustl.edu 37 7 23221797 23221798 + In_Frame_Ins INS - - CGGCAGCAACCG novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_007342.2 +1 validated p.35in_frame_insRQQP 0.999:1.000 - - - - - - - - - NULL MPP6 51678 genome.wustl.edu 37 7 24720081 24720081 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_016447.2 +1 provisional p.T463M 1.000 423 0% 292 45.9% 5 40% probably_damaging(0.973) deleterious(0.05) deleterious(0.760) HMMPfam_Guanylate_kin,HMMSmart_SM00072,superfamily_P-loop containing nucleoside triphosphate hydrolases HOXA7 3204 genome.wustl.edu 37 7 27194634 27194634 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_006896.3 -1 reviewed p.A196V 0.020 50 0% 54 40.7% 24 54.1% unknown(0) tolerated(0.11) - NULL BMPER 168667 genome.wustl.edu 37 7 34118685 34118685 + Missense_Mutation SNP T T C novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_133468.3 +1 validated p.L432P 1.000 92 0% 91 49.5% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_VWD,HMMSmart_VWD ELMO1 9844 genome.wustl.edu 37 7 37250990 37250990 + Splice_Site SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_014800.9 -1 reviewed e12+1 1.000 110 0% 64 37.5% 1 100% - - - - GLI3 2737 genome.wustl.edu 37 7 42065865 42065865 + Missense_Mutation SNP G G T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_000168.5 -1 reviewed p.P392H 1.000 34 0% 25 48% 0 - benign(0.253) deleterious(0.04) neutral(0.375) NULL HECW1 23072 genome.wustl.edu 37 7 43519303 43519303 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_015052.3 +1 validated p.R1065Q 1.000 295 0% 294 43.5% 0 - possibly_damaging(0.575) deleterious(0.01) deleterious(0.603) NULL POLM 27434 genome.wustl.edu 37 7 44113231 44113231 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_013284.2 -1 validated p.P464L 0.249 100 0% 123 39.8% 11 45.4% benign(0.001) tolerated(0.16) neutral(0.059) HMMSmart_POLXc,superfamily_SSF81301 PKD1L1 168507 genome.wustl.edu 37 7 47898467 47898467 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_138295.2 -1 reviewed p.A1389V 0.003 100 0% 112 44.6% 0 - benign(0.33) deleterious(0.02) deleterious(0.486) NULL COBL 23242 genome.wustl.edu 37 7 51111097 51111097 + Silent SNP A A G novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb ENST00000452534 -1 known p.*439R 0.000 82 0% 65 46.2% 5 20% - - - NULL VSTM2A 222008 genome.wustl.edu 37 7 54617692 54617692 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_182546.2 +1 validated p.R155C 0.980 56 0% 25 44% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL LANCL2 55915 genome.wustl.edu 37 7 55467774 55467774 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_018697.3 +1 validated p.V219M 0.999 182 0% 41 43.9% 29 37.9% probably_damaging(0.99) deleterious(0.01) deleterious(0.847) HMMPfam_LANC_like ENSG00000249319 0 genome.wustl.edu 37 7 65553846 65553846 + Silent SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb ENST00000450043 +1 known p.R26* 0.000 17 0% 15 46.7% 86 48.8% - - - HMMPfam_Lyase_1,superfamily_L-aspartase-like PHTF2 57157 genome.wustl.edu 37 7 77539710 77539710 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001127357.1 +1 validated p.A220T 1.000 122 0% 97 50.5% 5 0% possibly_damaging(0.929) tolerated(1) neutral(0.376) NULL FZD1 8321 genome.wustl.edu 37 7 90895830 90895831 + Frame_Shift_Del DEL TG TG - novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 TG TG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_003505.1 +1 reviewed p.V546fs 0.485:1.000 - - - - - - - - - HMMPfam_Frizzled KRIT1 889 genome.wustl.edu 37 7 91855911 91855913 + In_Frame_Del DEL GAG GAG - novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 GAG GAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_004912.3 -1 reviewed p.P358in_frame_del 1.000:1.000:1.000 - - - - - - - - - HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat PON1 5444 genome.wustl.edu 37 7 94931624 94931624 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_000446.5 -1 reviewed p.V268M 0.996 153 0% 113 45.1% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) superfamily_Calcium-dependent phosphotriesterase TECPR1 25851 genome.wustl.edu 37 7 97853019 97853019 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_015395.1 -1 provisional p.G901E 1.000 34 0% 13 38.5% 9 22.2% probably_damaging(0.993) deleterious(0.01) deleterious(0.856) HMMSmart_SM00694 AZGP1 563 genome.wustl.edu 37 7 99569369 99569369 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001185.3 -1 validated p.G113R 0.083 150 0% 120 40% 40 5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MHC_I,superfamily_MHC antigen-recognition domain MCM7 4176 genome.wustl.edu 37 7 99693413 99693413 + Nonsense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_005916.3 -1 reviewed p.R527* 0.995 145 0% 181 45.3% 277 10.4% - - - HMMPfam_MCM,HMMSmart_SM00350,superfamily_P-loop containing nucleoside triphosphate hydrolases STAG3 10734 genome.wustl.edu 37 7 99794894 99794894 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_012447.2 +1 validated p.H353Y 1.000 1027 0% 927 34.8% 0 - benign(0.001) tolerated(0.26) neutral(0.034) superfamily_ARM repeat STAG3 10734 genome.wustl.edu 37 7 99802988 99802988 + Silent SNP C C A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_012447.2 +1 validated p.S1073 0.998 101 0% 116 44.8% 0 - - - - superfamily_ARM repeat ZAN 7455 genome.wustl.edu 37 7 100382434 100382434 + Missense_Mutation SNP A A C novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_003386.1 +1 reviewed p.M2271L 0.337 21 0% 28 50% 0 - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL CDHR3 222256 genome.wustl.edu 37 7 105658505 105658506 + Frame_Shift_Ins INS - - A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_152750.4 +1 validated p.S548fs 0.004:0.000 - - - - - - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like DNAJB9 4189 genome.wustl.edu 37 7 108213373 108213373 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_012328.1 +1 provisional p.R83Q 0.999 135 0% 81 53.1% 12 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DnaJ,superfamily_Chaperone J-domain,PatternScan_DNAJ_1 PPP1R3A 5506 genome.wustl.edu 37 7 113558547 113558547 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_002711.3 -1 reviewed p.H169Y 0.996 177 0% 79 45.6% 0 - benign(0) tolerated(0.69) neutral(0.002) HMMPfam_CBM_21 GPR37 2861 genome.wustl.edu 37 7 124386654 124386654 + Silent SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_005302.2 -1 provisional p.T589 0.998 156 0.6% 114 38.6% 1 0% - - - superfamily_Family A G protein-coupled receptor-like OPN1SW 611 genome.wustl.edu 37 7 128415620 128415620 + Silent SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001708.2 -1 reviewed p.N75 0.085 111 0% 312 26.6% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like FLNC 2318 genome.wustl.edu 37 7 128481545 128481545 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001458.4 +1 reviewed p.C682Y 1.000 97 0% 53 41.5% 0 - benign(0.247) deleterious(0.01) neutral(0.431) HMMSmart_SM00557,superfamily_E set domains,HMMPfam_Filamin IRF5 3663 genome.wustl.edu 37 7 128582196 128582196 + Silent SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001098629.1 +1 reviewed p.L21 1.000 46 0% 60 45% 0 - - - - HMMPfam_IRF,HMMSmart_IRF,superfamily_SSF46785 FAM40B 57464 genome.wustl.edu 37 7 129098142 129098142 + Missense_Mutation SNP G G T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_020704.2 +1 validated p.E375D 1.000 29 0% 33 39.4% 1 0% benign(0.001) tolerated(0.34) neutral(0.023) NULL CNOT4 4850 genome.wustl.edu 37 7 135106940 135106940 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_013316.2 -1 validated p.V113I 1.000 223 0% 149 41.6% 7 28.5% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_RRM_1,HMMSmart_RRM,superfamily_SSF54928 KIAA1549 57670 genome.wustl.edu 37 7 138603602 138603602 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_020910.2 -1 validated p.A207V 0.000 281 0% 288 48.6% 0 - benign(0.013) tolerated(0.4) neutral(0.017) NULL TRBV7-4 28594 genome.wustl.edu 37 7 142176751 142176751 + Silent SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb ENST00000390369 -1 known p.L14 0.911 147 0% 125 44.8% 0 - - - - NULL PRSS1 5644 genome.wustl.edu 37 7 142460750 142460750 + Missense_Mutation SNP G G T rs189270875 by1000genomes TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_002769.3 +1 reviewed p.G208V 0.954 124 0% 145 36.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys C7orf34 135927 genome.wustl.edu 37 7 142636705 142636705 + Nonsense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_178829.4 +1 validated p.W21* 0.000 47 0% 31 32.3% 0 - - - - NULL LOC728377 728377 genome.wustl.edu 37 7 143979564 143979564 + RNA SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb XR_078379.1 -1 model NULL 0.997 426 0.2% 395 17% 2 0% - - - - ZNF862 643641 genome.wustl.edu 37 7 149559061 149559061 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001099220.1 +1 provisional p.A938T 0.000 113 0% 70 35.7% 9 33.3% benign(0) deleterious(0.03) neutral(0.364) NULL GIMAP1 170575 genome.wustl.edu 37 7 150417776 150417776 + Silent SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_130759.2 +1 reviewed p.A228 0.001 17 0% 18 38.9% 2 0% - - - HMMPfam_AIG1,superfamily_P-loop containing nucleoside triphosphate hydrolases GALNT11 63917 genome.wustl.edu 37 7 151810418 151810418 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_022087.2 +1 validated p.E390K 1.000 157 0% 169 47.3% 102 52.9% benign(0.021) tolerated(0.22) neutral(0.043) superfamily_Nucleotide-diphospho-sugar transferases MLL3 58508 genome.wustl.edu 37 7 151874769 151874769 + Missense_Mutation SNP T T C novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_170606.2 -1 reviewed p.H2590R 0.988 114 0% 107 45.8% 1 100% probably_damaging(0.998) - - NULL ESYT2 57488 genome.wustl.edu 37 7 158560398 158560398 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_020728.2 -1 validated p.V339I 0.993 98 0% 113 37.2% 5 0% benign(0.183) tolerated(0.37) neutral(0.036) NULL TUSC3 7991 genome.wustl.edu 37 8 15517024 15517024 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_006765.2 +1 reviewed p.M145I 1.000 164 0% 91 48.4% 0 - benign(0.006) tolerated(0.11) neutral(0.272) HMMPfam_OST3_OST6,superfamily_Thioredoxin-like EFHA2 286097 genome.wustl.edu 37 8 16921706 16921706 + Silent SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_181723.2 +1 validated p.P165 0.761 218 0% 160 51.2% 0 - - - - NULL STC1 6781 genome.wustl.edu 37 8 23702305 23702305 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_003155.2 -1 reviewed p.R241H 1.000 88 0% 129 41.9% 13 23% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Stanniocalcin NEFM 4741 genome.wustl.edu 37 8 24774948 24774948 + Missense_Mutation SNP A A G novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_005382.2 +1 reviewed p.K527R 1.000 63 0% 44 36.4% 0 - unknown(0) tolerated(0.13) - NULL PTK2B 2185 genome.wustl.edu 37 8 27309038 27309038 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb ENST00000397497 +1 known p.R558C 0.000 29 0% 29 37.9% 0 - benign(0.029) deleterious(0.03) neutral(0.366) NULL ADAM9 8754 genome.wustl.edu 37 8 38934903 38934903 + Silent SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_003816.2 +1 reviewed p.N618 1.000 163 0% 123 54.5% 32 40.6% - - - HMMSmart_SM00608 PRKDC 5591 genome.wustl.edu 37 8 48761804 48761804 + Missense_Mutation SNP A A C novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb ENST00000314191 -1 known p.C2396W 1.000 197 0% 258 43.4% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ARM repeat RGS20 8601 genome.wustl.edu 37 8 54791979 54791979 + Silent SNP C C A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_170587.2 +1 validated p.P109 0.633 36 0% 17 35.3% 0 - - - - NULL CHD7 55636 genome.wustl.edu 37 8 61768742 61768742 + Missense_Mutation SNP C C T rs189926848 by1000genomes TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_017780.2 +1 reviewed p.T2382M 0.472 29 0% 21 42.9% 12 33.3% benign(0) tolerated(0.17) neutral(0.059) NULL CHD7 55636 genome.wustl.edu 37 8 61778287 61778287 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_017780.2 +1 reviewed p.A2930V 1.000 138 0% 110 36.4% 25 60% possibly_damaging(0.797) deleterious(0.03) deleterious(0.664) NULL COPS5 10987 genome.wustl.edu 37 8 67968764 67968764 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_006837.2 -1 reviewed p.H217Y 1.000 69 0% 39 15.4% 86 12.7% probably_damaging(0.999) tolerated(0.13) deleterious(0.743) NULL IL7 3574 genome.wustl.edu 37 8 79650847 79650847 + Silent SNP A A G novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_000880.2 -1 reviewed p.A84 1.000 168 0% 75 37.3% 0 - - - - HMMPfam_IL7,HMMSmart_SM00127 FABP5 2171 genome.wustl.edu 37 8 82196201 82196201 + Missense_Mutation SNP T T A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001444.1 +1 reviewed p.L116I 0.201 70 0% 48 56.2% 65 46.1% benign(0.211) deleterious(0.05) neutral(0.366) HMMPfam_Lipocalin,superfamily_Lipocalins UBR5 51366 genome.wustl.edu 37 8 103297490 103297490 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_015902.4 -1 reviewed p.R1854H 1.000 168 0% 151 42.4% 11 45.4% probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL LRP12 29967 genome.wustl.edu 37 8 105509713 105509713 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_013437.4 -1 reviewed p.A356V 1.000 120 0% 108 41.7% 1 100% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain TG 7038 genome.wustl.edu 37 8 133906046 133906046 + Missense_Mutation SNP T T C novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_003235.4 +1 reviewed p.L958P 0.890 197 0% 237 41.4% 0 - possibly_damaging(0.854) deleterious(0) deleterious(0.774) NULL ZFAT 57623 genome.wustl.edu 37 8 135622826 135622826 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_020863.3 -1 reviewed p.R174Q 0.342 216 0.5% 137 34.3% 0 - probably_damaging(0.974) deleterious(0) deleterious(0.861) NULL COL22A1 169044 genome.wustl.edu 37 8 139890148 139890148 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_152888.1 -1 validated p.A168V 0.996 13 0% 25 48% 0 - unknown(0) tolerated(0.07) - HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like COMMD5 28991 genome.wustl.edu 37 8 146076199 146076199 + Silent SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001081003.1 -1 validated p.S175 0.126 12 0% 19 52.6% 60 50% - - - HMMPfam_HCaRG KIAA1432 57589 genome.wustl.edu 37 9 5763200 5763200 + Nonsense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_020829.2 +1 validated p.R646* 1.000 316 0% 357 47.3% 2 50% - - - NULL UHRF2 115426 genome.wustl.edu 37 9 6413516 6413516 + Missense_Mutation SNP A A G novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_152896.1 +1 reviewed p.D9G 1.000 10 0% 19 21.1% 1 0% possibly_damaging(0.631) deleterious(0.03) deleterious(0.585) HMMPfam_ubiquitin,HMMSmart_SM00213,superfamily_Ubiquitin-like KLHL9 55958 genome.wustl.edu 37 9 21333395 21333395 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_018847.2 -1 validated p.M488I 1.000 436 0% 434 38% 17 52.9% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain TOPORS 10210 genome.wustl.edu 37 9 32543128 32543128 + Silent SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_005802.3 -1 reviewed p.D465 0.006 230 0% 224 44.6% 9 66.6% - - - NULL KIF24 347240 genome.wustl.edu 37 9 34297019 34297019 + Missense_Mutation SNP T T C novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_194313.2 -1 validated p.N303D 1.000 23 0% 27 51.9% 0 - benign(0.016) tolerated(0.15) neutral(0.241) HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases GRHPR 9380 genome.wustl.edu 37 9 37432012 37432012 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_012203.1 +1 reviewed p.V248I 0.995 59 0% 44 38.6% 360 45.2% benign(0.342) tolerated(0.52) neutral(0.116) HMMPfam_2-Hacid_dh,HMMPfam_2-Hacid_dh_C,PatternScan_D_2_HYDROXYACID_DH_3,superfamily_NAD(P)-binding Rossmann-fold domains MCART1 92014 genome.wustl.edu 37 9 37888304 37888304 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_033412.3 -1 validated p.R82C 1.000 182 0% 208 45.2% 4 25% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Mitoch_carrier,HMMPfam_Mito_carr FAM74A3 728495 genome.wustl.edu 37 9 40716026 40716026 + RNA SNP A A G novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NR_026801.1 +1 predicted NULL 0.968 64 0% 77 54.5% 0 - - - - - FAM75A6 389730 genome.wustl.edu 37 9 43626190 43626191 + Frame_Shift_Ins INS - - A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001145196.1 -1 predicted p.T832fs 0.000:0.000 - - - - - - - - - NULL DAPK1 1612 genome.wustl.edu 37 9 90296405 90296405 + Silent SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_004938.2 +1 reviewed p.S696 0.011 183 0% 148 38.5% 12 25% - - - superfamily_SSF52540 C9orf79 286234 genome.wustl.edu 37 9 90502203 90502203 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_178828.4 +1 validated p.P934L 0.000 71 0% 54 53.7% 0 - benign(0) tolerated(1) - NULL ASPN 54829 genome.wustl.edu 37 9 95237021 95237022 + In_Frame_Ins INS - - TCC novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_017680.3 -1 validated p.53in_frame_insE 0.936:0.967 - - - - - - - - - superfamily_SSF52058 ABCA1 19 genome.wustl.edu 37 9 107566905 107566905 + Splice_Site SNP A A G novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_005502.2 -1 reviewed e31+2 0.999 189 0% 87 34.5% 0 - - - - - CTNNAL1 8727 genome.wustl.edu 37 9 111714732 111714732 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_003798.2 -1 provisional p.D558N 1.000 132 0% 126 40.5% 65 56.9% probably_damaging(1) tolerated(0.12) deleterious(0.760) superfamily_alpha-catenin/vinculin SUSD1 64420 genome.wustl.edu 37 9 114905868 114905868 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb ENST00000374263 -1 known p.H137Y 0.938 206 0% 181 44.8% 1 0% benign(0.119) deleterious(0.02) neutral(0.393) HMMSmart_EGF_CA,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_SSF57196 PTBP3 9991 genome.wustl.edu 37 9 115060116 115060116 + Silent SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb ENST00000374257 -1 known p.V10 0.996 214 0% 115 52.2% 2 100% - - - NULL C5 727 genome.wustl.edu 37 9 123760010 123760010 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001735.2 -1 reviewed p.E869K 0.693 130 0% 119 46.2% 1 100% benign(0) tolerated(0.88) - NULL OR1B1 347169 genome.wustl.edu 37 9 125391204 125391204 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001004450.1 -1 provisional p.A204V 0.019 151 0% 198 46% 0 - possibly_damaging(0.815) tolerated(1) neutral(0.307) HMMPfam_7tm_1,superfamily_SSF81321 WDR38 401551 genome.wustl.edu 37 9 127618537 127618538 + Frame_Shift_Del DEL CT CT - novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 CT CT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001045476.1 +1 provisional p.L143fs 0.067:0.069 - - - - - - - - - HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40 GAPVD1 26130 genome.wustl.edu 37 9 128061313 128061313 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_015635.2 +1 validated p.A38V 1.000 156 0% 126 42.1% 2 50% probably_damaging(0.996) tolerated(0.1) deleterious(0.748) NULL FPGS 2356 genome.wustl.edu 37 9 130569337 130569337 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_004957.4 +1 reviewed p.R158C 0.999 30 0% 39 41% 97 52.5% benign(0.011) tolerated(0.11) neutral(0.272) superfamily_MurD-like peptide ligases catalytic domain ODF2 4957 genome.wustl.edu 37 9 131262462 131262462 + Silent SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_002540.3 +1 reviewed p.N782 0.370 171 0% 133 33.8% 95 50.5% - - - NULL LRRC8A 56262 genome.wustl.edu 37 9 131670714 131670714 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001127244.1 +1 reviewed p.A424V 1.000 28 0% 26 46.2% 20 40% benign(0.001) deleterious(0.02) neutral(0.383) NULL ASB6 140459 genome.wustl.edu 37 9 132400170 132400170 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_017873.2 -1 reviewed p.P389S 1.000 50 0% 34 50% 35 51.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SOCS_box,HMMSmart_SM00253 TOR1B 27348 genome.wustl.edu 37 9 132571717 132571717 + Missense_Mutation SNP G G T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_014506.1 +1 provisional p.R289M 0.542 121 0% 104 45.2% 6 16.6% benign(0.214) tolerated(0.2) neutral(0.070) HMMPfam_Torsin,superfamily_SSF52540 LAMC3 10319 genome.wustl.edu 37 9 133914614 133914614 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_006059.3 +1 reviewed p.S421L 0.992 19 0% 31 51.6% 2 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,PatternScan_EGF_LAM_1,superfamily_SSF57196 GTF3C5 9328 genome.wustl.edu 37 9 135933232 135933232 + Silent SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001122823.1 +1 validated p.G482 0.000 30 0.000 5 0.800 119 46.2% - - - NULL GBGT1 26301 genome.wustl.edu 37 9 136029008 136029008 + Missense_Mutation SNP G G A rs189095621 by1000genomes TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_021996.4 -1 validated p.R334C 1.000 32 0% 16 43.8% 4 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Glyco_transf_6,superfamily_Nucleotide-diphospho-sugar transferases BRD3 8019 genome.wustl.edu 37 9 136901326 136901326 + Silent SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_007371.3 -1 reviewed p.P588 0.001 28 0% 31 61.3% 20 60% - - - NULL UBAC1 10422 genome.wustl.edu 37 9 138836987 138836987 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_016172.2 -1 validated p.A255T 0.016 37 0% 32 37.5% 37 24.3% benign(0) tolerated(0.74) neutral(0.002) NULL NOTCH1 4851 genome.wustl.edu 37 9 139395086 139395086 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_017617.3 -1 reviewed p.S1951N 1.000 11 0% 13 30.8% 6 33.3% benign(0.298) deleterious(0.01) deleterious(0.498) HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK CACNA1B 774 genome.wustl.edu 37 9 141014730 141014730 + Silent SNP G G A rs187721569 by1000genomes TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_000718.2 +1 validated p.S2048 0.000 4 0.000 6 0.667 0 - - - - NULL DIP2C 22982 genome.wustl.edu 37 10 436261 436261 + Silent SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_014974.2 -1 reviewed p.P479 0.033 131 0% 117 39.3% 0 - - - - HMMPfam_AMP-binding,superfamily_SSF56801 FAM208B 54906 genome.wustl.edu 37 10 5791578 5791578 + Missense_Mutation SNP G G A rs45596231 byFrequency;by1000genomes TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_017782.4 +1 validated p.S2065N 0.000 167 0% 109 41.3% 11 45.4% benign(0.102) tolerated(0.22) neutral(0.050) NULL FAM171A1 221061 genome.wustl.edu 37 10 15255162 15255162 + Nonsense_Mutation SNP C C A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001010924.1 -1 validated p.E809* 0.994 65 0% 68 47.1% 65 61.5% - - - HMMPfam_UPF0560 PLXDC2 84898 genome.wustl.edu 37 10 20466006 20466006 + Missense_Mutation SNP A A G novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_032812.7 +1 provisional p.E321G 1.000 258 0% 112 35.7% 1 0% probably_damaging(0.998) tolerated(0.32) deleterious(0.498) NULL ENSG00000099251 0 genome.wustl.edu 37 10 38647276 38647276 + Silent SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb ENST00000356314 +1 known p.A24 0.062 32 0% 41 39% 1 0% - - - HMMPfam_adh_short,superfamily_NAD(P)-binding Rossmann-fold domains SYT15 83849 genome.wustl.edu 37 10 46968715 46968715 + Missense_Mutation SNP G G T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_031912.3 -1 reviewed p.A74D 0.001 53 0% 37 18.9% 0 - benign(0) deleterious(0.01) neutral(0.406) NULL GPRIN2 9721 genome.wustl.edu 37 10 46999914 46999914 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_014696.3 +1 validated p.C345Y 1.000 28 0% 29 20.7% 1 0% probably_damaging(0.981) deleterious(0.01) deleterious(0.831) NULL FRMPD2 143162 genome.wustl.edu 37 10 49446049 49446049 + Silent SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001018071.3 -1 reviewed p.L302 0.049 166 0% 124 43.5% 1 0% - - - NULL ARID5B 84159 genome.wustl.edu 37 10 63661940 63661940 + Missense_Mutation SNP T T C novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_032199.2 +1 validated p.L15S 1.000 129 0% 98 42.9% 0 - benign(0.029) tolerated(0.3) neutral(0.030) NULL ARID5B 84159 genome.wustl.edu 37 10 63852312 63852312 + Silent SNP A A G novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_032199.2 +1 validated p.A1030 0.000 103 0% 90 44.4% 6 50% - - - NULL HK1 3098 genome.wustl.edu 37 10 71136805 71136805 + Nonsense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_033497.2 +1 reviewed p.R335* 0.998 129 0% 90 48.9% 17 5.8% - - - HMMPfam_Hexokinase_2,superfamily_SSF53067 CDH23 64072 genome.wustl.edu 37 10 73563053 73563053 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_022124.5 +1 reviewed p.A2583V 1.000 18 0% 23 47.8% 0 - probably_damaging(1) tolerated(0.11) deleterious(0.772) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PPP3CB 5532 genome.wustl.edu 37 10 75231318 75231318 + Missense_Mutation SNP T T A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001142353.1 -1 validated p.S193C 1.000 255 0% 138 34.1% 5 20% benign(0) tolerated(1) - HMMPfam_Metallophos,HMMSmart_PP2Ac,superfamily_SSF56300 SAMD8 142891 genome.wustl.edu 37 10 76924436 76924436 + Silent SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_144660.2 +1 validated p.T204 0.960 163 0% 116 37.1% 8 50% - - - NULL POLR3A 11128 genome.wustl.edu 37 10 79769401 79769401 + Silent SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_007055.3 -1 validated p.F601 1.000 170 0% 219 34.7% 1 100% - - - HMMPfam_RNA_pol_Rpb1_3,superfamily_SSF64484 GLUD1 2746 genome.wustl.edu 37 10 88836378 88836378 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_005271.3 -1 reviewed p.V161I 1.000 187 0% 64 32.8% 16 56.2% probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_ELFV_dehydrog_N,superfamily_SSF53223 PTEN 5728 genome.wustl.edu 37 10 89692904 89692904 + Nonsense_Mutation SNP C C T rs121909224 byCluster TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb ENST00000371953 +1 known p.R130* 1.000 282 0% 225 39.1% 5 60% - - - HMMPfam_DSPc,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II PTEN 5728 genome.wustl.edu 37 10 89720741 89720741 + Nonsense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb ENST00000371953 +1 known p.Q298* 1.000 314 0% 212 45.8% 13 30.7% - - - superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_PTEN_C2 IFIT5 24138 genome.wustl.edu 37 10 91177167 91177167 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_012420.2 +1 validated p.L71F 0.001 140 0% 152 53.3% 3 33.3% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_TPR_1,HMMSmart_TPR,superfamily_SSF48452 PCGF5 84333 genome.wustl.edu 37 10 93008435 93008435 + Silent SNP T T C novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_032373.3 +1 provisional p.R93 0.998 762 0% 439 44% 0 - - - - superfamily_RING/U-box PLCE1 51196 genome.wustl.edu 37 10 95994018 95994018 + Silent SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_016341.3 +1 reviewed p.S721 0.026 169 0.6% 119 40.3% 0 - - - - HMMPfam_RasGEF,HMMSmart_SM00147,superfamily_Ras GEF SLIT1 6585 genome.wustl.edu 37 10 98761034 98761034 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb ENST00000371070 -1 known p.R1439H 0.973 32 0% 32 43.8% 0 - benign(0.238) tolerated(0.59) neutral(0.029) NULL ABCC2 1244 genome.wustl.edu 37 10 101560266 101560266 + Silent SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_000392.3 +1 reviewed p.C385 1.000 340 0% 325 47.4% 0 - - - - HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain GBF1 8729 genome.wustl.edu 37 10 104123022 104123022 + Missense_Mutation SNP C C G novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_004193.1 +1 provisional p.T628S 0.973 59 0% 44 45.5% 3 0% benign(0) tolerated(0.75) neutral(0.002) NULL SUFU 51684 genome.wustl.edu 37 10 104309851 104309851 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_016169.3 +1 reviewed p.V148M 1.000 66 0% 64 51.6% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_SUFU,superfamily_Suppressor of Fused N-terminal domain CCDC147 159686 genome.wustl.edu 37 10 106125669 106125669 + Missense_Mutation SNP T T C novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001008723.1 +1 validated p.M232T 1.000 99 0% 97 47.4% 0 - benign(0.309) tolerated(0.17) neutral(0.155) NULL SORCS1 114815 genome.wustl.edu 37 10 108427525 108427525 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001013031.1 -1 reviewed p.C742Y 1.000 67 0% 37 40.5% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMSmart_VPS10 NRAP 4892 genome.wustl.edu 37 10 115391645 115391645 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_198060.2 -1 validated p.A571T 1.000 345 0.6% 205 42.9% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Nebulin,HMMSmart_SM00227 PPAPDC1A 196051 genome.wustl.edu 37 10 122278345 122278345 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001030059.1 +1 validated p.A86V 1.000 166 0% 81 38.3% 0 - benign(0.022) deleterious(0.01) neutral(0.407) HMMPfam_PAP2,HMMSmart_SM00014,superfamily_Acid phosphatase/Vanadium-dependent haloperoxidase RIC8A 60626 genome.wustl.edu 37 11 212920 212920 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_021932.4 +1 provisional p.E438K 0.961 41 0% 33 57.6% 124 51.6% possibly_damaging(0.659) tolerated(0.18) neutral(0.289) HMMPfam_Ric8 MUC5B 727897 genome.wustl.edu 37 11 1264230 1264230 + Silent SNP C C A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_002458.1 +1 validated p.S2043 0.002 133 0.8% 172 48.8% 26 26.9% - - - NULL KRTAP5-1 387264 genome.wustl.edu 37 11 1605933 1605933 + Missense_Mutation SNP A A G novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001005922.1 -1 validated p.C183R 0.071 125 0% 132 27.3% 5 20% unknown(0) deleterious(0) - PatternScan_4FE4S_FER_1 TNNT3 7140 genome.wustl.edu 37 11 1959705 1959705 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_006757.3 +1 reviewed p.G254S 1.000 7 0.000 11 0.364 0 - probably_damaging(0.998) tolerated(0.19) deleterious(0.524) NULL DCHS1 8642 genome.wustl.edu 37 11 6646599 6646599 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_003737.2 -1 reviewed p.R2326C 1.000 94 0% 45 40% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin EIF4G2 1982 genome.wustl.edu 37 11 10823260 10823260 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb ENST00000429377 -1 known p.S527L 1.000 247 0% 187 41.2% 176 31.8% possibly_damaging(0.925) deleterious(0.01) deleterious(0.779) NULL USP47 55031 genome.wustl.edu 37 11 11951042 11951044 + In_Frame_Del DEL ATT ATT - novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 ATT ATT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_017944.3 +1 validated p.Y417in_frame_del 1.000:1.000:1.000 - - - - - - - - - HMMPfam_UCH,superfamily_Cysteine proteinases MICALCL 84953 genome.wustl.edu 37 11 12313763 12313763 + Silent SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_032867.2 +1 validated p.S16 0.005 162 0% 164 45.7% 0 - - - - NULL LDHC 3948 genome.wustl.edu 37 11 18434390 18434390 + Silent SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_002301.4 +1 reviewed p.K42 1.000 117 0% 113 41.6% 0 - - - - HMMPfam_Ldh_1_N,superfamily_NAD(P)-bd LDHC 3948 genome.wustl.edu 37 11 18436758 18436758 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_002301.4 +1 reviewed p.D52N 1.000 113 0% 77 50.6% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Ldh_1_N,superfamily_NAD(P)-bd EIF3M 10480 genome.wustl.edu 37 11 32615480 32615480 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_006360.3 +1 provisional p.R201Q 1.000 87 0% 57 36.8% 269 52.4% probably_damaging(0.992) deleterious(0.01) deleterious(0.853) NULL CHST1 8534 genome.wustl.edu 37 11 45672090 45672090 + Silent SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_003654.4 -1 validated p.Y128 0.645 33 0% 52 46.2% 2 50% - - - HMMPfam_Sulfotransfer_1,superfamily_SSF52540 SLC35C1 55343 genome.wustl.edu 37 11 45832387 45832387 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_018389.4 +1 reviewed p.T199I 1.000 14 0.000 8 0.500 23 73.9% benign(0.001) tolerated(0.29) neutral(0.029) HMMPfam_TPT PACSIN3 29763 genome.wustl.edu 37 11 47199520 47199520 + Missense_Mutation SNP G G T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_016223.4 -1 reviewed p.L413M 1.000 18 0.000 8 0.625 314 50.9% probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_SH3_1,HMMSmart_SH3,superfamily_SH3 OR4C2P 119750 genome.wustl.edu 37 11 48441911 48441911 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb ENST00000428162 +1 known p.G39D 0.941 116 0% 115 47% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR8K3 219473 genome.wustl.edu 37 11 56086683 56086683 + Nonsense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001005202.1 +1 provisional p.R301* 0.000 117 0% 91 45.1% 0 - - - - superfamily_SSF81321 OR5M10 390167 genome.wustl.edu 37 11 56345167 56345167 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001004741.1 -1 provisional p.E11K 0.314 178 0% 164 34.1% 0 - possibly_damaging(0.877) deleterious(0) deleterious(0.786) superfamily_SSF81321 APLNR 187 genome.wustl.edu 37 11 57003463 57003463 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_005161.4 -1 reviewed p.S339N 0.890 41 0% 55 45.5% 3 0% benign(0.098) tolerated(0.08) neutral(0.307) superfamily_SSF81321 ZDHHC5 25921 genome.wustl.edu 37 11 57466083 57466083 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_015457.2 +1 validated p.R392H 1.000 167 0% 133 42.1% 87 48.2% benign(0.004) tolerated(0.09) neutral(0.296) NULL MS4A13 503497 genome.wustl.edu 37 11 60292794 60292794 + Nonsense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001012417.2 +1 validated p.Q101* 0.999 98 0% 38 42.1% 0 - - - - HMMPfam_CD20 SLC22A9 114571 genome.wustl.edu 37 11 63177326 63177326 + Nonsense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_080866.2 +1 validated p.Q552* 0.000 151 0% 88 44.3% 0 - - - - NULL STIP1 10963 genome.wustl.edu 37 11 63962067 63962067 + Nonsense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_006819.2 +1 validated p.R160* 0.414 37 0% 35 37.1% 83 6% - - - HMMSmart_STI1,superfamily_SSF48452 RASGRP2 10235 genome.wustl.edu 37 11 64503388 64503388 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001098670.1 -1 reviewed p.R387H 0.999 11 0.000 9 0.444 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00147,superfamily_Ras GEF NAALADL1 10004 genome.wustl.edu 37 11 64812878 64812878 + Silent SNP T T C novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_005468.2 -1 validated p.L696 1.000 12 0% 14 50% 0 - - - - HMMPfam_TFR_dimer,superfamily_Transferrin receptor ectodomain C-terminal domain CORO1B 57175 genome.wustl.edu 37 11 67208702 67208702 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001018070.1 -1 validated p.A217V 0.995 18 0% 11 45.5% 253 49.4% benign(0.002) deleterious(0.05) neutral(0.345) superfamily_WD40 repeat-like ACY3 91703 genome.wustl.edu 37 11 67410358 67410358 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_080658.1 -1 validated p.S266N 0.570 9 0.000 24 0.458 41 31.7% benign(0) tolerated(0.64) neutral(0.003) HMMPfam_AstE_AspA MRGPRD 116512 genome.wustl.edu 37 11 68748083 68748083 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_198923.2 -1 validated p.L125F 0.511 40 0% 58 43.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_SSF81321 SERPINH1 871 genome.wustl.edu 37 11 75277520 75277520 + Silent SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001235.2 +1 reviewed p.T42 0.995 9 0.000 13 0.308 79 46.8% - - - HMMPfam_Serpin,superfamily_Serpins SERPINH1 871 genome.wustl.edu 37 11 75277662 75277662 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001235.2 +1 reviewed p.A90T 0.998 12 0% 14 57.1% 64 39% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Serpin,HMMSmart_SM00093,superfamily_Serpins SERPINH1 871 genome.wustl.edu 37 11 75282833 75282833 + Missense_Mutation SNP T T C novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001235.2 +1 reviewed p.L321P 1.000 49 0% 45 26.7% 249 34.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Serpin,HMMSmart_SM00093,superfamily_Serpins MYO7A 4647 genome.wustl.edu 37 11 76871323 76871323 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_000260.3 +1 reviewed p.V399I 1.000 6 0.000 6 0.833 1 0% benign(0.323) deleterious(0.03) neutral(0.466) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases DLG2 1740 genome.wustl.edu 37 11 84027875 84027875 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb ENST00000280241 -1 known p.P105L 0.999 143 0% 170 47.6% 0 - possibly_damaging(0.508) deleterious(0.01) deleterious(0.576) HMMPfam_MAGUK_N_PEST FAT3 120114 genome.wustl.edu 37 11 92599975 92599975 + Silent SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001008781.2 +1 validated p.G3909 1.000 20 0% 17 29.4% 0 - - - - HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 KDM4D 55693 genome.wustl.edu 37 11 94730840 94730840 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_018039.2 +1 validated p.R102C 0.976 248 0% 215 44.2% 0 - benign(0.133) deleterious(0.05) neutral(0.356) NULL MMP27 64066 genome.wustl.edu 37 11 102562587 102562587 + Silent SNP T T C novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_022122.2 -1 reviewed p.S484 0.023 172 0% 67 37.3% 0 - - - - NULL ATM 472 genome.wustl.edu 37 11 108186827 108186827 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_000051.3 +1 reviewed p.A2062V 1.000 135 0% 79 36.7% 2 0% benign(0) tolerated(1) - superfamily_ARM repeat ATM 472 genome.wustl.edu 37 11 108216609 108216609 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_000051.3 +1 reviewed p.T2853M 1.000 412 0% 187 46.5% 6 16.6% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,superfamily_Protein kinase-like (PK-like),superfamily_ARM repeat ZC3H12C 85463 genome.wustl.edu 37 11 110035624 110035624 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_033390.1 +1 validated p.R605Q 0.068 116 0% 154 45.5% 0 - probably_damaging(0.987) tolerated(0.21) deleterious(0.480) NULL DCPS 28960 genome.wustl.edu 37 11 126174027 126174027 + Nonsense_Mutation SNP G G T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_014026.3 +1 validated p.E18* 0.979 14 0% 27 63% 20 45% - - - NULL DCP1B 196513 genome.wustl.edu 37 12 2062350 2062350 + Missense_Mutation SNP C C G novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_152640.3 -1 validated p.Q252H 0.000 88 2.3% 61 42.6% 6 83.3% benign(0) tolerated(0.61) neutral(0.004) NULL CD9 928 genome.wustl.edu 37 12 6344728 6344728 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb ENST00000382519 +1 known p.E228K 0.000 43 0% 57 29.8% 1719 50.5% unknown(0) deleterious(0) - NULL EMG1 10436 genome.wustl.edu 37 12 7080234 7080234 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb ENST00000261406 +1 known p.A49V 1.000 21 0% 16 50% 70 30% - - - HMMPfam_EMG1 CDKN1B 1027 genome.wustl.edu 37 12 12870837 12870837 + Nonsense_Mutation SNP G G T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_004064.3 +1 reviewed p.E22* 1.000 17 0% 22 45.5% 45 40% - - - NULL KRAS 3845 genome.wustl.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T rs121913529 byCluster TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_033360.2 -1 reviewed p.G12D 1.000 68 0% 29 41.4% 5 40% possibly_damaging(0.886) deleterious(0) deleterious(0.791) HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases IPO8 10526 genome.wustl.edu 37 12 30843490 30843490 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_006390.2 -1 reviewed p.A36T 1.000 320 0% 145 35.2% 6 66.6% possibly_damaging(0.465) deleterious(0) deleterious(0.598) HMMPfam_IBN_N,superfamily_ARM-type_fold DDX11 1663 genome.wustl.edu 37 12 31244705 31244705 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_152438.1 +1 reviewed p.A381V 0.716 28 0% 35 28.6% 44 36.3% benign(0) tolerated(0.82) neutral(0.001) HMMSmart_SM00488,HMMPfam_DEAD_2,superfamily_P-loop containing nucleoside triphosphate hydrolases PFKM 5213 genome.wustl.edu 37 12 48535728 48535728 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_000289.5 +1 reviewed p.G511D 1.000 138 0% 151 41.1% 11 54.5% probably_damaging(0.996) tolerated(0.05) deleterious(0.807) HMMPfam_PFK,superfamily_Phosphofructokinase ASIC1 41 genome.wustl.edu 37 12 50452691 50452691 + Missense_Mutation SNP C C A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_020039.2 +1 reviewed p.L48M 1.000 56 0% 40 55% 5 60% possibly_damaging(0.832) deleterious(0.02) deleterious(0.700) HMMPfam_ASC KRT1 3848 genome.wustl.edu 37 12 53070923 53070923 + Nonsense_Mutation SNP T T A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_006121.3 -1 reviewed p.R392* 0.292 195 0% 204 49% 0 - - - - HMMPfam_Filament ATF7 11016 genome.wustl.edu 37 12 53917071 53917071 + Missense_Mutation SNP T T C novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001130059.1 -1 validated p.Q419R 1.000 72 0% 64 48.4% 7 28.5% benign(0.429) tolerated(0.2) neutral(0.189) NULL PDE1B 5153 genome.wustl.edu 37 12 54964070 54964070 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_000924.3 +1 validated p.A175T 0.997 189 0% 168 42.9% 0 - benign(0) tolerated(0.15) neutral(0.241) superfamily_SSF109604 WIBG 84305 genome.wustl.edu 37 12 56297213 56297213 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_032345.2 -1 validated p.R30Q 1.000 84 0% 78 38.5% 94 59.5% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_Mago-bind,superfamily_Pym (Within the bgcn gene intron protein WIBG) N-terminal domain IKZF4 64375 genome.wustl.edu 37 12 56428877 56428877 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_022465.3 +1 validated p.R507Q 1.000 133 0% 212 43.4% 2 100% possibly_damaging(0.73) tolerated(0.23) neutral(0.308) NULL ESYT1 23344 genome.wustl.edu 37 12 56532241 56532241 + Silent SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_015292.2 +1 validated p.A797 0.015 29 0% 44 34.1% 64 46.8% - - - superfamily_C2 domain (Calcium/lipid-binding domain CaLB) MON2 23041 genome.wustl.edu 37 12 62959121 62959121 + Silent SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_015026.2 +1 validated p.Q1379 0.999 190 0% 126 40.5% 4 50% - - - superfamily_ARM-type_fold LEMD3 23592 genome.wustl.edu 37 12 65634798 65634798 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_014319.4 +1 reviewed p.R746W 1.000 218 0.5% 163 46% 7 57.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MAN1_C IL26 55801 genome.wustl.edu 37 12 68619273 68619273 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_018402.1 -1 reviewed p.R60H 0.214 273 0.4% 267 43.4% 0 - benign(0.001) tolerated(0.45) neutral(0.012) superfamily_4_helix_cytokine,HMMSmart_IL10 NAV3 89795 genome.wustl.edu 37 12 78571410 78571410 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb ENST00000228327 +1 known p.V1720I 1.000 149 0% 62 40.3% 0 - benign(0.069) tolerated(0.23) neutral(0.046) NULL OTOGL 283310 genome.wustl.edu 37 12 80613571 80613574 + Frame_Shift_Del DEL TTTT TTTT - novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 TTTT TTTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb XM_002343203.1 +1 model p.F15fs 0.783:0.235:0.100:0.000 - - - - - - - - - NULL PPFIA2 8499 genome.wustl.edu 37 12 81839382 81839382 + Missense_Mutation SNP T T C novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_003625.2 -1 reviewed p.K175E 1.000 118 0% 95 27.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ENSG00000227825 0 genome.wustl.edu 37 12 98849257 98849257 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb ENST00000370696 -1 known p.R214Q 0.702 27 0% 28 50% 1 0% - - - NULL WSCD2 9671 genome.wustl.edu 37 12 108620780 108620780 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_014653.2 +1 validated p.A273V 1.000 59 0% 61 37.7% 0 - benign(0.418) deleterious(0) deleterious(0.580) HMMPfam_WSC,HMMSmart_SM00321 SSH1 54434 genome.wustl.edu 37 12 109186539 109186539 + Silent SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_018984.3 -1 validated p.D472 0.984 49 0% 45 37.8% 3 66.6% - - - NULL TMEM116 89894 genome.wustl.edu 37 12 112369575 112369575 + Silent SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_138341.1 -1 provisional p.Q196 1.000 161 0% 156 44.9% 10 50% - - - NULL VSIG10 54621 genome.wustl.edu 37 12 118504457 118504459 + In_Frame_Del DEL TCT TCT - rs185858778 by1000genomes TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 TCT TCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_019086.5 -1 validated p.E536in_frame_del 0.026:0.096:0.110 - - - - - - - - - NULL CIT 11113 genome.wustl.edu 37 12 120150421 120150421 + Silent SNP G G T rs142811369 by1000genomes TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_007174.1 -1 validated p.S1511 0.015 110 0% 124 46.8% 7 57.1% - - - HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like KDM2B 84678 genome.wustl.edu 37 12 121987468 121987468 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_032590.4 -1 reviewed p.R158H 1.000 38 0% 49 36.7% 5 20% probably_damaging(0.985) deleterious(0.01) deleterious(0.838) superfamily_Clavaminate synthase-like B3GNT4 79369 genome.wustl.edu 37 12 122691003 122691003 + Missense_Mutation SNP C C A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_030765.2 +1 reviewed p.P69T 0.000 100 0% 61 41% 5 80% benign(0) deleterious(0.04) neutral(0.349) NULL SFSWAP 6433 genome.wustl.edu 37 12 132211525 132211525 + Missense_Mutation SNP A A T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_004592.2 +1 reviewed p.E291D 0.561 91 0% 78 39.7% 26 38.4% benign(0.025) tolerated(0.85) neutral(0.002) NULL ZMYM2 7750 genome.wustl.edu 37 13 20632822 20632822 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_003453.2 +1 validated p.M867I 1.000 435 0% 318 41.2% 27 33.3% possibly_damaging(0.478) tolerated(0.08) neutral(0.458) NULL GJB2 2706 genome.wustl.edu 37 13 20763690 20763690 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_004004.5 -1 reviewed p.G11R 1.000 96 0% 64 46.9% 14 50% possibly_damaging(0.926) deleterious(0.03) deleterious(0.739) HMMPfam_Connexin PABPC3 5042 genome.wustl.edu 37 13 25671837 25671837 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_030979.2 +1 validated p.R501C 0.979 109 0.9% 148 41.9% 0 - benign(0.005) deleterious(0.04) neutral(0.349) superfamily_PABC (PABP) domain FRY 10129 genome.wustl.edu 37 13 32783153 32783153 + Silent SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_023037.2 +1 validated p.D1394 0.077 128 0% 116 41.4% 0 - - - - NULL CSNK1A1L 122011 genome.wustl.edu 37 13 37679199 37679199 + Silent SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_145203.5 -1 validated p.T65 0.993 159 0% 168 44% 0 - - - - superfamily_Kinase_like,HMMPfam_Pkinase LHFP 10186 genome.wustl.edu 37 13 39952645 39952645 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_005780.2 -1 reviewed p.G135D 1.000 77 0% 67 44.8% 8 25% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_L_HGMIC_fpl SLC25A15 10166 genome.wustl.edu 37 13 41373280 41373280 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_014252.3 +1 reviewed p.T48I 0.581 130 0% 138 45.7% 29 41.3% benign(0) tolerated(1) - superfamily_Mitochondrial carrier,HMMPfam_Mito_carr DIAPH3 81624 genome.wustl.edu 37 13 60453407 60453407 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001042517.1 -1 validated p.R855W 1.000 138 0% 82 48.8% 10 80% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00498,HMMPfam_FH2,superfamily_Formin homology 2 domain (FH2 domain) RBM26 64062 genome.wustl.edu 37 13 79940321 79940321 + Missense_Mutation SNP G G T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_022118.3 -1 validated p.P382H 1.000 145 0% 103 43.7% 8 62.5% probably_damaging(1) deleterious(0) deleterious(0.945) NULL TM9SF2 9375 genome.wustl.edu 37 13 100153989 100153989 + Silent SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_004800.1 +1 provisional p.P43 0.986 48 0% 49 57.1% 34 29.4% - - - NULL NALCN 259232 genome.wustl.edu 37 13 101944628 101944628 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_052867.2 -1 validated p.R297C 1.000 173 0% 114 33.3% 0 - probably_damaging(0.998) deleterious(0.03) deleterious(0.839) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels LIG4 3981 genome.wustl.edu 37 13 108862191 108862191 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001098268.1 -1 reviewed p.R476W 0.998 207 0% 197 42.1% 2 50% probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMPfam_DNA_ligase_A_C MYO16 23026 genome.wustl.edu 37 13 109779690 109779690 + Silent SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_015011.1 +1 validated p.A1259 0.005 22 0% 23 39.1% 0 - - - - NULL IPO4 79711 genome.wustl.edu 37 14 24652526 24652526 + Missense_Mutation SNP C C A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_024658.3 -1 validated p.E719D 1.000 20 0% 14 42.9% 88 53.4% benign(0.176) tolerated(0.54) neutral(0.024) superfamily_ARM repeat NYNRIN 57523 genome.wustl.edu 37 14 24880575 24880575 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_025081.2 +1 validated p.T854M 0.894 331 0% 289 44.3% 7 14.2% probably_damaging(0.973) deleterious(0.04) deleterious(0.764) NULL ENSG00000250370 0 genome.wustl.edu 37 14 31354988 31354988 + RNA SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb ENST00000503907 -1 known NULL 0.000 250 0% 155 45.8% 0 - - - - - NPAS3 64067 genome.wustl.edu 37 14 34243680 34243680 + Silent SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_173159.2 +1 reviewed p.C317 1.000 172 0% 141 41.1% 0 - - - - HMMSmart_PAS,superfamily_SSF55785 CFL2 1073 genome.wustl.edu 37 14 35182459 35182459 + Splice_Site SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_021914.7 -1 reviewed e2+1 1.000 89 0% 63 41.3% 0 - - - - - PNN 5411 genome.wustl.edu 37 14 39649880 39649880 + Missense_Mutation SNP G G T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_002687.3 +1 validated p.G323C 1.000 56 0% 88 43.2% 94 62.7% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL PRPF39 55015 genome.wustl.edu 37 14 45564489 45564489 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_017922.3 +1 validated p.S16N 1.000 279 0% 206 40.3% 14 57.1% benign(0.001) tolerated(0.6) neutral(0.004) NULL NIN 51199 genome.wustl.edu 37 14 51238089 51238089 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_020921.3 -1 reviewed p.A360V 1.000 63 0% 67 47.8% 3 100% unknown(0) deleterious(0) - superfamily_EF-hand GMFB 2764 genome.wustl.edu 37 14 54950424 54950424 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_004124.2 -1 validated p.R22H 1.000 99 0% 82 36.6% 6 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cofilin_ADF,HMMSmart_SM00102,superfamily_Actin depolymerizing proteins PPP2R5E 5529 genome.wustl.edu 37 14 64006378 64006380 + In_Frame_Del DEL GGA GGA - novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 GGA GGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_006246.2 -1 reviewed p.P9in_frame_del 1.000:1.000:1.000 - - - - - - - - - NULL ZBTB25 7597 genome.wustl.edu 37 14 64954442 64954442 + Silent SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_006977.2 -1 validated p.Q169 1.000 179 0% 200 44% 6 66.6% - - - NULL SPTB 6710 genome.wustl.edu 37 14 65253879 65253879 + Splice_Site SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001024858.2 -1 reviewed e15-1 1.000 23 0% 26 57.7% 0 - - - - - DCAF5 8816 genome.wustl.edu 37 14 69558513 69558513 + Nonsense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_003861.2 -1 validated p.R253* 1.000 122 0% 96 51% 11 36.3% - - - superfamily_WD40 repeat-like SIPA1L1 26037 genome.wustl.edu 37 14 72056005 72056005 + Missense_Mutation SNP G G T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_015556.1 +1 provisional p.L472F 1.000 213 0% 116 36.2% 3 66.6% possibly_damaging(0.893) tolerated(0.76) neutral(0.353) NULL NEK9 91754 genome.wustl.edu 37 14 75562102 75562102 + Missense_Mutation SNP T T C novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_033116.4 -1 validated p.N736D 1.000 63 0% 54 42.6% 7 85.7% benign(0.235) deleterious(0) neutral(0.468) NULL C14orf118 55668 genome.wustl.edu 37 14 76621125 76621125 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_017926.2 +1 validated p.A140V 1.000 79 0% 84 42.9% 4 25% probably_damaging(0.955) tolerated(0.66) neutral(0.401) NULL C14orf133 63894 genome.wustl.edu 37 14 77919683 77919683 + Missense_Mutation SNP T T C novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_022067.2 -1 provisional p.D52G 0.962 327 0% 372 42.7% 6 50% possibly_damaging(0.948) tolerated(0.28) neutral(0.422) HMMPfam_Golgin_A5 CPSF2 53981 genome.wustl.edu 37 14 92627523 92627523 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_017437.1 +1 validated p.R730Q 1.000 299 0% 190 28.9% 46 54.3% benign(0.242) deleterious(0.03) neutral(0.389) NULL RIN3 79890 genome.wustl.edu 37 14 93107605 93107605 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_024832.3 +1 validated p.R155W 0.945 57 0% 70 42.9% 1 100% unknown(0) deleterious(0) - superfamily_SH2 domain GOLGA5 9950 genome.wustl.edu 37 14 93263849 93263849 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_005113.2 +1 reviewed p.A23T 1.000 94 0% 88 40.9% 21 47.6% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL ITPK1 3705 genome.wustl.edu 37 14 93460301 93460301 + Silent SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001142593.1 -1 validated p.P96 0.808 35 0% 32 53.1% 75 37.3% - - - HMMPfam_Ins134_P3_kin,superfamily_Glutathione synthetase ATP-binding domain-like ATG2B 55102 genome.wustl.edu 37 14 96784189 96784189 + Silent SNP G G T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_018036.5 -1 validated p.I961 1.000 236 0% 142 41.5% 1 100% - - - NULL CYP46A1 10858 genome.wustl.edu 37 14 100188308 100188308 + Missense_Mutation SNP C C A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_006668.1 +1 reviewed p.L361M 0.993 38 0% 36 33.3% 0 - possibly_damaging(0.925) deleterious(0) deleterious(0.818) HMMPfam_p450,superfamily_Cytochrome_P450 DYNC1H1 1778 genome.wustl.edu 37 14 102495903 102495903 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001376.4 +1 reviewed p.G3166S 0.999 78 0% 67 47.8% 14 7.1% benign(0.004) tolerated(0.11) neutral(0.272) superfamily_SSF52540 PPP1R13B 23368 genome.wustl.edu 37 14 104206784 104206784 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_015316.2 -1 reviewed p.P657S 0.003 26 0% 22 50% 18 83.3% benign(0) tolerated(0.55) neutral(0.007) NULL GPR132 29933 genome.wustl.edu 37 14 105521734 105521734 + Silent SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_013345.2 -1 reviewed p.N8 0.013 110 0% 96 43.8% 9 22.2% - - - NULL BRF1 2972 genome.wustl.edu 37 14 105685575 105685575 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb ENST00000440513 -1 known p.A17T 0.000 13 0% 29 55.2% 3 0% benign(0.007) tolerated(0.55) neutral(0.007) HMMPfam_BRF1 IGHG1 3500 genome.wustl.edu 37 14 106206433 106206433 + Silent SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb ENST00000390548 -1 known p.S361 1.000 19 0% 24 20.8% 0 - - - - NULL IGHV3-43 28426 genome.wustl.edu 37 14 106926401 106926401 + Silent SNP G G T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb ENST00000434710 -1 known p.T47 0.976 611 0% 552 46.4% 0 - - - - HMMSmart_IGv,HMMPfam_V-set,superfamily_SSF48726 NDN 4692 genome.wustl.edu 37 15 23931941 23931941 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_002487.2 -1 reviewed p.R142C 0.902 29 0% 12 75% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MAGE ATP10A 57194 genome.wustl.edu 37 15 25959252 25959252 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_024490.3 -1 reviewed p.G638D 0.299 38 0% 33 45.5% 0 - possibly_damaging(0.893) tolerated(0.41) neutral(0.367) superfamily_SSF56784 OCA2 4948 genome.wustl.edu 37 15 28228541 28228541 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_000275.2 -1 reviewed p.G485R 1.000 110 0% 109 50.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_CitMHS ARHGAP11B 89839 genome.wustl.edu 37 15 30927692 30927692 + Silent SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001039841.1 +1 provisional p.G221 0.999 690 0% 485 39.4% 2 50% - - - HMMSmart_RhoGAP,superfamily_Rho_GAP SPTBN5 51332 genome.wustl.edu 37 15 42171576 42171576 + Missense_Mutation SNP G G T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_016642.2 -1 validated p.Q987K 0.000 14 0% 10 40% 0 - possibly_damaging(0.442) tolerated(0.16) neutral(0.204) HMMSmart_SM00150 SORD 6652 genome.wustl.edu 37 15 45353270 45353270 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_003104.4 +1 validated p.R91C 1.000 90 0% 78 38.5% 59 49.1% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_GroES-like,HMMPfam_ADH_N CEP152 22995 genome.wustl.edu 37 15 49048120 49048120 + Missense_Mutation SNP C C T rs115832709 byFrequency;by1000genomes TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_014985.2 -1 provisional p.A1109T 0.000 448 0% 294 40.8% 1 0% benign(0) tolerated(0.19) neutral(0.050) NULL PIGB 9488 genome.wustl.edu 37 15 55612548 55612548 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_004855.4 +1 reviewed p.T80I 1.000 83 0% 39 43.6% 6 83.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Glyco_transf_22 MIR422A 494334 genome.wustl.edu 37 15 64163132 64163132 + RNA SNP G G T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb ENST00000362286 -1 known NULL 0.003 100 0% 98 52% 0 - - - - - MIR1272 100302184 genome.wustl.edu 37 15 65054696 65054696 + RNA SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb ENST00000408106 -1 known NULL 0.000 64 1.6% 39 46.2% 0 - - - - - IQCH 64799 genome.wustl.edu 37 15 67692501 67692501 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001031715.2 +1 validated p.R652H 1.000 92 0% 72 34.7% 2 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL CYP11A1 1583 genome.wustl.edu 37 15 74635450 74635450 + Missense_Mutation SNP C C A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_000781.2 -1 reviewed p.W286C 0.011 134 0% 103 38.8% 0 - possibly_damaging(0.756) deleterious(0) deleterious(0.724) HMMPfam_p450,superfamily_Cytochrome P450 MPI 4351 genome.wustl.edu 37 15 75182953 75182953 + Silent SNP T T C novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_002435.1 +1 reviewed p.S34 1.000 35 0% 49 49% 35 54.2% - - - HMMPfam_PMI_typeI,superfamily_RmlC-like cupins FANCI 55215 genome.wustl.edu 37 15 89843577 89843577 + Silent SNP T T C novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001113378.1 +1 reviewed p.S950 0.376 128 0% 31 41.9% 47 46.8% - - - NULL SLCO3A1 28232 genome.wustl.edu 37 15 92459361 92459361 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_013272.3 +1 validated p.R107C 1.000 12 0% 17 58.8% 0 - probably_damaging(0.999) deleterious(0.03) deleterious(0.855) HMMPfam_OATP,superfamily_MFS general substrate transporter LRRK1 79705 genome.wustl.edu 37 15 101605686 101605686 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_024652.3 +1 validated p.A1682T 0.199 176 0% 126 43.7% 11 45.4% benign(0) tolerated(0.38) neutral(0.018) NULL AXIN1 8312 genome.wustl.edu 37 16 396589 396589 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_003502.2 -1 reviewed p.R146Q 0.996 40 0% 39 59% 18 38.8% possibly_damaging(0.756) deleterious(0.02) deleterious(0.662) HMMPfam_RGS,HMMSmart_SM00315,superfamily_Regulator of G-protein signaling RGS HMOX2 3163 genome.wustl.edu 37 16 4557995 4557995 + Silent SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001127204.1 +1 reviewed p.S162 0.001 56 0% 31 45.2% 83 54.2% - - - HMMPfam_Heme_oxygenase,superfamily_Heme oxygenase-like TEKT5 146279 genome.wustl.edu 37 16 10721610 10721610 + Missense_Mutation SNP T T C novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_144674.1 -1 provisional p.K430E 0.252 38 0% 64 48.4% 0 - benign(0.058) tolerated(0.11) neutral(0.275) HMMPfam_Tektin CIITA 4261 genome.wustl.edu 37 16 11001471 11001471 + Missense_Mutation SNP T T G novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_000246.3 +1 reviewed p.F708V 1.000 120 0% 83 53% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CLEC16A 23274 genome.wustl.edu 37 16 11272483 11272483 + Missense_Mutation SNP C C G novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_015226.2 +1 validated p.A1033G 0.000 21 0% 27 48.1% 5 20% benign(0.004) tolerated(0.2) neutral(0.049) NULL CPPED1 55313 genome.wustl.edu 37 16 12758860 12758860 + Silent SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_018340.2 -1 validated p.H276 0.498 37 0% 46 47.8% 35 77.1% possibly_damaging(0.466) deleterious(0.02) deleterious(0.536) superfamily_Metallo-dependent phosphatases SYT17 51760 genome.wustl.edu 37 16 19195208 19195208 + Silent SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_016524.2 +1 validated p.Y230 1.000 186 0% 280 44.6% 8 75% - - - HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB TMC5 79838 genome.wustl.edu 37 16 19475197 19475197 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001105248.1 +1 validated p.V446I 1.000 349 0% 330 49.7% 8 62.5% possibly_damaging(0.799) tolerated(0.18) neutral(0.357) NULL TNRC6A 27327 genome.wustl.edu 37 16 24835005 24835005 + Silent SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb ENST00000450465 +1 known p.A813T 0.119 198 0% 245 45.7% 12 25% - - - NULL ATXN2L 11273 genome.wustl.edu 37 16 28838193 28838193 + Silent SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_148414.1 +1 reviewed p.T209 0.996 61 0% 64 50% 45 40% - - - NULL RRN3P2 653390 genome.wustl.edu 37 16 29110458 29110458 + Missense_Mutation SNP T T C novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb ENST00000427965 +1 known p.W375R 0.991 108 0.9% 95 22.1% 0 - benign(0) tolerated(1) - HMMPfam_RRN3 ZNF720 124411 genome.wustl.edu 37 16 31733952 31733952 + Silent SNP G G T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001130913.1 +1 validated p.L3 0.404 303 0% 165 35.8% 8 37.5% unknown(0) - - superfamily_KRAB domain (Kruppel-associated box Pfam 01352) VPS35 55737 genome.wustl.edu 37 16 46706238 46706238 + Missense_Mutation SNP A A G novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_018206.4 -1 reviewed p.M436T 1.000 103 0% 71 11.3% 30 6.6% benign(0.051) deleterious(0.02) neutral(0.386) HMMPfam_Vps35 MMP2 4313 genome.wustl.edu 37 16 55522489 55522489 + Silent SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_004530.4 +1 reviewed p.Q289 1.000 40 0% 56 48.2% 91 51.6% - - - HMMSmart_FN2,HMMPfam_Peptidase_M10,HMMSmart_ZnMc,superfamily_Kringle-like,superfamily_SSF55486 CDH1 999 genome.wustl.edu 37 16 68857362 68857362 + Missense_Mutation SNP A A G novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_004360.3 +1 reviewed p.N666S 0.038 150 0.7% 130 39.2% 146 49.3% benign(0.362) tolerated(0.39) neutral(0.131) HMMPfam_Cadherin,superfamily_Cadherin-like ENSG00000205152 0 genome.wustl.edu 37 16 70265334 70265334 + Missense_Mutation SNP T T C novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb ENST00000378955 -1 known p.N346D 1.000 75 0% 57 47.4% 0 - - - - NULL ZFHX3 463 genome.wustl.edu 37 16 72830903 72830904 + Frame_Shift_Del DEL CT CT - novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 CT CT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_006885.3 -1 reviewed p.R1893fs 0.999:0.991 - - - - - - - - - NULL ZFHX3 463 genome.wustl.edu 37 16 72923834 72923834 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_006885.3 -1 reviewed p.E1082K 1.000 90 0% 102 18.6% 4 25% unknown(0) - - NULL CHST5 23563 genome.wustl.edu 37 16 75563170 75563170 + Silent SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_024533.3 -1 validated p.C371 0.986 14 0% 22 54.5% 1 0% - - - HMMPfam_Sulfotransfer_1,superfamily_P-loop containing nucleoside triphosphate hydrolases ADAT1 23536 genome.wustl.edu 37 16 75654164 75654164 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_012091.2 -1 reviewed p.G80R 0.996 135 0% 116 56% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_A_deamin,HMMSmart_SM00552 ENSG00000232329 0 genome.wustl.edu 37 16 81142175 81142175 + Missense_Mutation SNP A A G novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb ENST00000453104 -1 known p.Y204H 0.046 30 0% 32 37.5% 0 - - - - NULL KCNG4 93107 genome.wustl.edu 37 16 84256074 84256074 + Missense_Mutation SNP T T C novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_172347.1 -1 reviewed p.S437G 1.000 48 0% 56 51.8% 0 - probably_damaging(0.999) tolerated(0.43) deleterious(0.504) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels FBXO31 79791 genome.wustl.edu 37 16 87367618 87367618 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_024735.3 -1 validated p.G424D 0.000 21 0% 18 44.4% 3 0% possibly_damaging(0.648) tolerated(0.13) deleterious(0.480) NULL SCARF1 8578 genome.wustl.edu 37 17 1538710 1538710 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_003693.2 -1 reviewed p.P612L 0.978 31 0% 38 57.9% 2 0% possibly_damaging(0.527) deleterious(0) deleterious(0.623) NULL OR1A2 26189 genome.wustl.edu 37 17 3101038 3101038 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_012352.1 +1 provisional p.V76I 0.523 460 0% 483 44.9% 0 - probably_damaging(0.988) tolerated(0.06) deleterious(0.760) HMMPfam_7tm_1,superfamily_SSF81321 OR1E2 8388 genome.wustl.edu 37 17 3336748 3336748 + Missense_Mutation SNP T T G novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_003554.1 -1 provisional p.M130L 0.971 167 0.6% 325 46.8% 0 - unknown(0) tolerated(0.5) - HMMPfam_7tm_1,superfamily_SSF81321 ZFP3 124961 genome.wustl.edu 37 17 4994995 4994996 + Frame_Shift_Del DEL GA GA - novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 GA GA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_153018.2 +1 validated p.D68fs 0.014:0.011 - - - - - - - - - NULL WSCD1 23302 genome.wustl.edu 37 17 6023654 6023654 + Silent SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_015253.1 +1 validated p.Y467 0.523 169 0% 80 35% 6 16.6% - - - superfamily_SSF52540 CLEC10A 10462 genome.wustl.edu 37 17 6978707 6978707 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_182906.2 -1 reviewed p.D252N 1.000 108 0% 146 41.8% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like NEURL4 84461 genome.wustl.edu 37 17 7224913 7224913 + Missense_Mutation SNP C C A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_032442.2 -1 validated p.R1022M 1.000 78 0% 29 34.5% 8 62.5% probably_damaging(0.989) deleterious(0.03) deleterious(0.804) HMMSmart_SM00588 CYB5D1 124637 genome.wustl.edu 37 17 7762002 7762002 + Nonsense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_144607.4 +1 validated p.Q106* 0.361 21 0% 22 45.5% 2 0% - - - superfamily_Cytochrome b5-like heme/steroid binding domain ARHGEF15 22899 genome.wustl.edu 37 17 8222125 8222125 + Silent SNP T T C novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_173728.2 +1 reviewed p.L644 0.984 67 0% 99 41.4% 1 0% - - - superfamily_SSF50729 PIK3R5 23533 genome.wustl.edu 37 17 8791556 8791556 + Silent SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001142633.1 -1 validated p.T516 0.000 25 0% 19 47.4% 0 - - - - HMMPfam_PI3K_1B_p101 MYH1 4619 genome.wustl.edu 37 17 10404777 10404777 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_005963.3 -1 reviewed p.R1130W 1.000 183 0% 139 54% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Myosin_tail_1 NCOR1 9611 genome.wustl.edu 37 17 16001708 16001708 + Silent SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_006311.2 -1 reviewed p.Q931 0.993 157 0.6% 77 40.3% 6 83.3% - - - NULL PIGL 9487 genome.wustl.edu 37 17 16229178 16229178 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_004278.3 +1 reviewed p.R242Q 1.000 76 0% 69 46.4% 9 22.2% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_LmbE-like SHMT1 6470 genome.wustl.edu 37 17 18251702 18251702 + Nonsense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_004169.3 -1 reviewed p.R99* 1.000 44 0% 90 48.9% 25 0% - - - HMMPfam_SHMT,superfamily_PLP-dependent transferases KCNJ12 3768 genome.wustl.edu 37 17 21319341 21319341 + Silent SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_021012.4 +1 validated p.R229 0.231 29 0% 43 16.3% 0 - - - - HMMPfam_IRK,superfamily_Ig_E-set SSH2 85464 genome.wustl.edu 37 17 27959571 27959571 + Missense_Mutation SNP C C A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_033389.2 -1 reviewed p.G854W 0.986 161 0% 220 48.2% 2 100% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL MYO19 80179 genome.wustl.edu 37 17 34862952 34862952 + Silent SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb ENST00000431794 -1 known p.S498 0.996 21 0% 12 33.3% 25 36% - - - HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases KRT33B 3884 genome.wustl.edu 37 17 39521059 39521059 + Silent SNP G G T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_002279.3 -1 reviewed p.R357 0.992 228 0% 229 38.9% 0 - - - - HMMPfam_Filament,PatternScan_IF KRT35 3886 genome.wustl.edu 37 17 39636983 39636983 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_002280.4 -1 reviewed p.A123T 0.008 101 0% 78 46.2% 0 - benign(0) tolerated(0.14) neutral(0.249) HMMPfam_Filament ENSG00000247918 0 genome.wustl.edu 37 17 40126023 40126026 + RNA DEL TTTT TTTT - rs34645700 TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 TTTT TTTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb ENST00000499234 -1 novel NULL 0.001:0.001:0.000:0.003 - - - - - - - - - - SLC4A1 6521 genome.wustl.edu 37 17 42331904 42331904 + Silent SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_000342.3 -1 reviewed p.L673 1.000 18 0% 23 30.4% 0 - - - - HMMPfam_HCO3_cotransp PLCD3 113026 genome.wustl.edu 37 17 43190566 43190566 + Silent SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_133373.3 -1 reviewed p.T685I 1.000 18 0% 19 36.8% 18 55.5% - - - NULL KAT7 11143 genome.wustl.edu 37 17 47904070 47904070 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_007067.3 +1 provisional p.T548M 1.000 176 0% 140 42.1% 14 21.4% probably_damaging(0.999) tolerated(0.06) deleterious(0.813) HMMPfam_MOZ_SAS,superfamily_Acyl-CoA N-acyltransferases (Nat) MYCBPAP 84073 genome.wustl.edu 37 17 48594768 48594768 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_032133.4 +1 validated p.R150C 0.768 140 0% 93 48.4% 1 100% probably_damaging(0.992) deleterious(0) deleterious(0.892) NULL EPX 8288 genome.wustl.edu 37 17 56280666 56280666 + Silent SNP C C A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_000502.4 +1 reviewed p.R645 0.539 84 0% 66 37.9% 2 100% - - - HMMPfam_An_peroxidase,superfamily_Peroxidase_super RNF43 54894 genome.wustl.edu 37 17 56492875 56492875 + Nonsense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_017763.4 -1 validated p.Q22* 1.000 52 0% 80 52.5% 3 33.3% - - - NULL TEX14 56155 genome.wustl.edu 37 17 56665301 56665301 + Silent SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_198393.2 -1 reviewed p.R886 0.000 85 0% 64 46.9% 0 - - - - NULL KCNH6 81033 genome.wustl.edu 37 17 61622450 61622450 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_030779.2 +1 reviewed p.R839H 0.984 32 0% 36 55.6% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL FTSJ3 117246 genome.wustl.edu 37 17 61899116 61899116 + Silent SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_017647.3 -1 reviewed p.L521 0.808 559 0.2% 585 50.6% 41 56% - - - NULL SCN4A 6329 genome.wustl.edu 37 17 62034671 62034671 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_000334.4 -1 reviewed p.H743Y 1.000 66 0% 59 44.1% 0 - benign(0.014) deleterious(0.02) neutral(0.384) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels ERN1 2081 genome.wustl.edu 37 17 62133221 62133223 + In_Frame_Del DEL GCT GCT - novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 GCT GCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001433.3 -1 reviewed p.Q495in_frame_del 0.999:0.998:0.998 - - - - - - - - - NULL ENSG00000214176 0 genome.wustl.edu 37 17 62820964 62820964 + Silent SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb ENST00000397718 -1 known p.S25 0.989 71 0% 77 36.4% 5 20% - - - NULL TNRC6C 57690 genome.wustl.edu 37 17 76060930 76060930 + Silent SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001142640.1 +1 validated p.G838 0.183 37 0% 29 31% 1 0% - - - HMMPfam_Ago_hook ENPP7 339221 genome.wustl.edu 37 17 77709122 77709122 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_178543.3 +1 validated p.R227Q 0.560 21 0% 24 54.2% 0 - probably_damaging(0.999) deleterious(0.04) deleterious(0.839) HMMPfam_Phosphodiest,superfamily_Alkaline_phosphatase_core TBC1D16 125058 genome.wustl.edu 37 17 77921611 77921611 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_019020.2 -1 provisional p.A521T 1.000 16 0% 22 31.8% 33 36.3% benign(0.336) tolerated(0.07) neutral(0.425) HMMPfam_TBC,HMMSmart_SM00164,superfamily_Ypt/Rab-GAP domain of gyp1p SLC38A10 124565 genome.wustl.edu 37 17 79249914 79249914 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001037984.1 -1 validated p.T256M 0.908 10 0% 10 50% 97 52.5% probably_damaging(0.999) tolerated(0.19) deleterious(0.540) HMMPfam_Aa_trans SIRT7 51547 genome.wustl.edu 37 17 79872370 79872370 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_016538.1 -1 reviewed p.R206W 0.996 14 0.000 7 0.571 34 67.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SIR2,superfamily_DHS-like NAD/FAD-binding domain CCDC57 284001 genome.wustl.edu 37 17 80153187 80153187 + Silent SNP A A T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_198082.2 -1 validated p.R190 0.000 17 0% 11 36.4% 11 18.1% - - - NULL TWSG1 57045 genome.wustl.edu 37 18 9399351 9399351 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_020648.5 +1 validated p.M166I 1.000 91 0% 50 34% 15 66.6% benign(0.024) tolerated(0.33) neutral(0.025) HMMPfam_Tsg LOC729602 729602 genome.wustl.edu 37 18 11621122 11621122 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb XM_002344140.1 -1 model p.V206I 0.057 247 0% 241 41.1% 0 - - - - HMMPfam_NPIP GATA6 2627 genome.wustl.edu 37 18 19780733 19780733 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_005257.3 +1 validated p.E579K 0.998 65 0% 72 38.9% 0 - unknown(0) tolerated(0.16) - NULL LAMA3 3909 genome.wustl.edu 37 18 21437853 21437853 + Silent SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_198129.1 +1 reviewed p.S1394 0.087 119 0% 90 37.8% 2 100% - - - HMMPfam_Laminin_EGF,HMMSmart_SM00180,PatternScan_EGF_LAM_1,HMMSmart_SM00181,superfamily_EGF/Laminin TTC39C 125488 genome.wustl.edu 37 18 21703899 21703899 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001135993.1 +1 validated p.V430M 0.993 77 0% 41 39% 13 69.2% benign(0.013) tolerated(0.27) neutral(0.034) HMMPfam_Deme6,superfamily_TPR-like SLC39A6 25800 genome.wustl.edu 37 18 33696636 33696636 + Splice_Site SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_012319.3 -1 validated e5+1 1.000 58 0% 40 45% 1 100% - - - - ZBTB7C 201501 genome.wustl.edu 37 18 45567179 45567179 + Silent SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001039360.1 -1 validated p.T100 0.350 58 0% 45 44.4% 7 14.2% - - - HMMSmart_SM00225,superfamily_POZ domain,HMMPfam_BTB TCF4 6925 genome.wustl.edu 37 18 52896159 52896159 + Missense_Mutation SNP T T C novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001083962.1 -1 reviewed p.K600E 1.000 92 0% 65 41.5% 0 - probably_damaging(0.974) deleterious(0) deleterious(0.861) HMMPfam_HLH,HMMSmart_HLH,superfamily_HLH_basic TCF4 6925 genome.wustl.edu 37 18 53018187 53018187 + Silent SNP A A C novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001083962.1 -1 reviewed p.L139 1.000 250 0% 169 49.1% 0 - - - - NULL WDR7 23335 genome.wustl.edu 37 18 54547241 54547241 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_015285.2 +1 reviewed p.A1124V 1.000 174 0% 148 43.2% 2 0% probably_damaging(0.954) tolerated(0.08) deleterious(0.698) NULL CDH7 1005 genome.wustl.edu 37 18 63477133 63477133 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_004361.2 +1 reviewed p.P135L 1.000 192 0% 146 38.4% 0 - probably_damaging(0.997) deleterious(0.02) deleterious(0.849) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like FSD1 79187 genome.wustl.edu 37 19 4307924 4307924 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_024333.2 +1 reviewed p.L97F 1.000 5 0.000 9 0.667 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_BBC PLIN4 729359 genome.wustl.edu 37 19 4511071 4511071 + Silent SNP T T C novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001080400.1 -1 provisional p.G953 0.000 58 1.7% 60 68.3% 1 0% - - - NULL TNFAIP8L1 126282 genome.wustl.edu 37 19 4651884 4651884 + Missense_Mutation SNP G G T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_152362.2 +1 validated p.M1I 1.000 20 0% 20 50% 5 40% possibly_damaging(0.473) deleterious(0) deleterious(0.601) HMMPfam_DUF758 SAFB 6294 genome.wustl.edu 37 19 5653199 5653199 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_002967.2 +1 reviewed p.T456I 0.997 59 0% 62 40.3% 106 44.3% possibly_damaging(0.952) deleterious(0) deleterious(0.840) HMMPfam_RRM_1,HMMSmart_RRM,superfamily_SSF54928 MLLT1 4298 genome.wustl.edu 37 19 6270618 6270618 + Silent SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_005934.3 -1 validated p.L55 1.000 35 0% 46 37% 24 45.8% - - - HMMPfam_YEATS SLC25A23 79085 genome.wustl.edu 37 19 6454634 6454634 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_024103.2 -1 validated p.A193V 0.988 38 0% 39 35.9% 19 42.1% possibly_damaging(0.761) deleterious(0) deleterious(0.726) superfamily_Mitochondrial carrier,HMMPfam_Mito_carr VAV1 7409 genome.wustl.edu 37 19 6848059 6848059 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_005428.2 +1 reviewed p.R688H 0.987 137 0% 110 40.9% 2 0% possibly_damaging(0.895) tolerated(0.24) neutral(0.390) HMMPfam_SH2,HMMSmart_SH2,superfamily_SH3,superfamily_SSF55550 ZNF557 79230 genome.wustl.edu 37 19 7075116 7075116 + Missense_Mutation SNP G G T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001044387.1 +1 validated p.A11S 0.058 31 0% 39 46.2% 2 0% possibly_damaging(0.791) tolerated(0.12) deleterious(0.557) NULL INSR 3643 genome.wustl.edu 37 19 7267491 7267491 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_000208.2 -1 reviewed p.V173M 0.971 163 0% 203 37.9% 0 - benign(0.023) tolerated(0.07) neutral(0.320) superfamily_L domain-like MUC16 94025 genome.wustl.edu 37 19 9090009 9090009 + Silent SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_024690.2 -1 validated p.Q602 0.005 219 0% 220 52.3% 0 - - - - NULL ICAM3 3385 genome.wustl.edu 37 19 10445855 10445855 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_002162.3 -1 reviewed p.T275M 0.000 16 0% 24 50% 11 45.4% possibly_damaging(0.679) tolerated(0.12) deleterious(0.502) superfamily_SSF48726 TYK2 7297 genome.wustl.edu 37 19 10461823 10461823 + Missense_Mutation SNP T T C novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_003331.4 -1 reviewed p.I1112V 1.000 36 0% 39 56.4% 71 63.3% possibly_damaging(0.647) tolerated(0.1) deleterious(0.513) HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like TYK2 7297 genome.wustl.edu 37 19 10475409 10475409 + Silent SNP G G A rs138350396 by1000genomes TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_003331.4 -1 reviewed p.F416 0.921 21 0% 41 53.7% 39 58.9% - - - NULL SMARCA4 6597 genome.wustl.edu 37 19 11123752 11123752 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001128849.1 +1 reviewed p.R801H 1.000 57 0% 58 41.4% 117 52.1% probably_damaging(0.993) deleterious(0.02) deleterious(0.833) HMMPfam_SNF2_N,HMMSmart_DEXDc,superfamily_SSF52540 TNPO2 30000 genome.wustl.edu 37 19 12822220 12822220 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001136196.1 -1 validated p.R336H 0.997 98 0% 82 30.5% 27 62.9% possibly_damaging(0.697) deleterious(0.01) deleterious(0.655) superfamily_ARM repeat MAST1 22983 genome.wustl.edu 37 19 12969367 12969367 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_014975.2 +1 validated p.R394C 0.852 49 0% 64 43.8% 0 - possibly_damaging(0.888) deleterious(0) deleterious(0.792) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase MAST1 22983 genome.wustl.edu 37 19 12979907 12979907 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_014975.2 +1 validated p.A934V 1.000 68 0% 65 40% 3 100% benign(0.001) tolerated(0.05) neutral(0.345) NULL DDX39A 10212 genome.wustl.edu 37 19 14523391 14523391 + Missense_Mutation SNP A A T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_005804.2 -1 reviewed p.L103Q 1.000 12 0% 17 64.7% 167 52.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DEAD,HMMSmart_DEXDc,superfamily_SSF52540 SYDE1 85360 genome.wustl.edu 37 19 15224565 15224565 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_033025.4 +1 provisional p.R667W 1.000 62 0% 33 48.5% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL UPF1 5976 genome.wustl.edu 37 19 18966854 18966854 + Silent SNP G G T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_002911.3 +1 reviewed p.P555 0.003 32 0% 14 42.9% 38 60.5% - - - superfamily_SSF52540 ZNF93 81931 genome.wustl.edu 37 19 20044492 20044492 + Missense_Mutation SNP C C A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_031218.3 +1 validated p.T243N 0.000 434 0% 267 40.1% 8 25% benign(0.004) tolerated(1) - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF431 170959 genome.wustl.edu 37 19 21350428 21350428 + Missense_Mutation SNP C C A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_133473.2 +1 validated p.P93H 0.150 346 0.3% 247 40.9% 2 50% probably_damaging(0.993) deleterious(0.02) deleterious(0.833) HMMSmart_SM00349 ENSG00000213974 0 genome.wustl.edu 37 19 22785451 22785451 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb ENST00000397112 +1 known p.R103Q 0.942 74 0% 71 43.7% 0 - - - - NULL LOC440518 440518 genome.wustl.edu 37 19 22785822 22785822 + RNA SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb XR_041921.2 +1 model NULL 0.952 10 0% 18 38.9% 0 - - - - - ZNF675 171392 genome.wustl.edu 37 19 23836179 23836179 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_138330.2 -1 validated p.R519Q 0.000 255 0% 182 41.8% 12 41.6% benign(0.019) tolerated(0.78) neutral(0.002) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ANKRD27 84079 genome.wustl.edu 37 19 33130328 33130328 + Silent SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_032139.2 -1 validated p.Y350 1.000 87 0% 94 38.3% 4 25% - - - HMMPfam_VPS9,HMMSmart_VPS9,superfamily_SSF109993 GPATCH1 55094 genome.wustl.edu 37 19 33586690 33586690 + Silent SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_018025.2 +1 provisional p.G192 1.000 224 0% 163 46.6% 5 40% - - - HMMPfam_G-patch KIAA0355 9710 genome.wustl.edu 37 19 34842430 34842430 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_014686.3 +1 validated p.S946N 1.000 60 0% 32 18.8% 11 9% possibly_damaging(0.456) deleterious(0.03) deleterious(0.514) NULL CD22 933 genome.wustl.edu 37 19 35829328 35829328 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001771.3 +1 validated p.V415I 0.298 140 0% 228 35.5% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00409,superfamily_Immunoglobulin C19orf55 148137 genome.wustl.edu 37 19 36252950 36252950 + Silent SNP C C A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001039887.1 +1 predicted p.P114 0.994 33 0% 15 46.7% 8 50% unknown(0) - - NULL ARHGAP33 115703 genome.wustl.edu 37 19 36276147 36276147 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_052948.3 +1 reviewed p.T593M 1.000 84 0% 52 40.4% 8 37.5% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL COX7A1 1346 genome.wustl.edu 37 19 36642409 36642409 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001864.2 -1 reviewed p.V48I 0.000 80 0% 21 23.8% 8 0% benign(0.004) tolerated(0.35) neutral(0.021) HMMPfam_COX7a,superfamily_Mitochondrial cytochrome c oxidase subunit VIIa ZNF461 92283 genome.wustl.edu 37 19 37130376 37130376 + Missense_Mutation SNP G G C novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_153257.2 -1 validated p.H291D 0.998 157 0% 114 42.1% 4 50% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF585B 92285 genome.wustl.edu 37 19 37677370 37677370 + Missense_Mutation SNP T T A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_152279.3 -1 validated p.T357S 0.024 454 0% 400 46% 0 - benign(0.004) tolerated(0.52) neutral(0.009) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 GGN 199720 genome.wustl.edu 37 19 38876172 38876172 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_152657.3 -1 reviewed p.T577I 0.000 28 0% 19 31.6% 0 - probably_damaging(0.962) tolerated(0.12) deleterious(0.665) NULL PLEKHG2 64857 genome.wustl.edu 37 19 39914682 39914682 + Nonsense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb ENST00000205135 +1 known p.Q838* 0.058 151 0% 221 41.6% 5 20% possibly_damaging(0.911) deleterious(0) deleterious(0.807) NULL CYP2F1 1572 genome.wustl.edu 37 19 41622225 41622225 + Silent SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_000774.3 +1 reviewed p.L44 0.975 705 0.1% 724 47.5% 0 - - - - HMMPfam_p450,superfamily_Cytochrome P450 HNRNPUL1 11100 genome.wustl.edu 37 19 41798387 41798387 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_007040.3 +1 reviewed p.V413I 0.006 130 0.8% 99 46.5% 207 50.2% benign(0.008) tolerated(0.24) neutral(0.037) NULL MEGF8 1954 genome.wustl.edu 37 19 42839244 42839244 + Missense_Mutation SNP C C A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001410.2 +1 validated p.L206M 1.000 27 0% 46 39.1% 0 - probably_damaging(0.999) tolerated(0.12) deleterious(0.751) superfamily_Gal_oxid_central ZNF283 284349 genome.wustl.edu 37 19 44351863 44351863 + Silent SNP T T C novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_181845.1 +1 validated p.T370 0.990 254 0% 219 38.8% 1 100% - - - superfamily_C2H2 and C2HC zinc fingers LIG1 3978 genome.wustl.edu 37 19 48619155 48619155 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_000234.1 -1 reviewed p.P884L 0.983 37 0% 27 37% 157 54.7% probably_damaging(0.983) deleterious(0.01) deleterious(0.835) NULL SIGLEC5 8778 genome.wustl.edu 37 19 52131127 52131127 + Silent SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_003830.2 -1 validated p.P319 0.000 62 0% 88 46.6% 0 - - - - HMMSmart_IGc2,superfamily_SSF48726 HAS1 3036 genome.wustl.edu 37 19 52217292 52217292 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb ENST00000376738 -1 known p.A205T 1.000 39 0% 36 33.3% 0 - unknown(0) deleterious(0.03) - NULL ZNF841 284371 genome.wustl.edu 37 19 52570447 52570447 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001136499.1 -1 validated p.V230I 0.000 18 0% 14 42.9% 0 - possibly_damaging(0.792) deleterious(0.05) deleterious(0.642) NULL DEFB126 81623 genome.wustl.edu 37 20 126191 126191 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_030931.2 +1 reviewed p.R65H 0.000 293 0% 247 44.9% 3 66.6% probably_damaging(0.994) deleterious(0.03) deleterious(0.817) NULL TMC2 117532 genome.wustl.edu 37 20 2591104 2591104 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_080751.2 +1 validated p.P485S 0.998 172 0% 108 40.7% 0 - possibly_damaging(0.945) tolerated(0.54) neutral(0.397) NULL CPXM1 56265 genome.wustl.edu 37 20 2776337 2776337 + Missense_Mutation SNP A A G novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_019609.4 -1 reviewed p.M543T 1.000 26 0% 34 41.2% 12 8.3% benign(0.023) deleterious(0) neutral(0.446) HMMPfam_Peptidase_M14,HMMSmart_SM00631,superfamily_Zn-dependent exopeptidases BTBD3 22903 genome.wustl.edu 37 20 11903546 11903546 + Silent SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_014962.2 +1 validated p.Q267 1.000 143 0% 149 44.3% 7 42.8% - - - NULL BTBD3 22903 genome.wustl.edu 37 20 11903891 11903891 + Silent SNP C C A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_014962.2 +1 validated p.A382 1.000 100 0% 113 46% 9 33.3% - - - HMMPfam_PHR C20orf7 79133 genome.wustl.edu 37 20 13789531 13789531 + Missense_Mutation SNP T T C novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_024120.4 +1 reviewed p.L254S 1.000 77 0% 41 36.6% 35 45.7% probably_damaging(0.996) deleterious(0) deleterious(0.906) superfamily_S-adenosyl-L-methionine-dependent methyltransferases E2F1 1869 genome.wustl.edu 37 20 32265093 32265093 + Missense_Mutation SNP A A T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_005225.2 -1 reviewed p.V295D 1.000 38 0% 10 50% 32 43.7% probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL GSS 2937 genome.wustl.edu 37 20 33533805 33533805 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_000178.2 -1 reviewed p.V76M 1.000 118 0% 146 46.6% 132 45.4% possibly_damaging(0.903) tolerated(0.38) neutral(0.376) HMMPfam_GSH_synth_ATP,superfamily_SSF56059 MYH7B 57644 genome.wustl.edu 37 20 33584523 33584523 + Silent SNP T T G rs11392289 TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_020884.3 +1 reviewed p.A1118 0.037 10 0% 15 73.3% 2 0% - - - HMMPfam_Myosin_tail_1 PPP1R16B 26051 genome.wustl.edu 37 20 37546827 37546827 + Nonsense_Mutation SNP C C A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb ENST00000438192 +1 known p.Y308* 1.000 141 0% 119 44.5% 0 - benign(0.273) tolerated(0.39) neutral(0.045) NULL ZSWIM3 140831 genome.wustl.edu 37 20 44506264 44506264 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_080752.2 +1 validated p.A356V 0.014 121 0% 126 41.3% 3 33.3% benign(0) tolerated(0.61) neutral(0.004) NULL ZNF335 63925 genome.wustl.edu 37 20 44580951 44580951 + Silent SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_022095.3 -1 reviewed p.P1008 0.001 17 0% 15 60% 15 46.6% - - - NULL ARFGEF2 10564 genome.wustl.edu 37 20 47626792 47626792 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_006420.2 +1 reviewed p.A1203V 1.000 126 0.8% 152 36.8% 1 100% benign(0) tolerated(1) - HMMPfam_DUF1981,superfamily_ARM-type_fold DDX27 55661 genome.wustl.edu 37 20 47845263 47845263 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_017895.7 +1 reviewed p.A271T 1.000 102 0% 124 41.1% 18 77.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DEAD,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases FAM65C 140876 genome.wustl.edu 37 20 49221198 49221198 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_080829.2 -1 predicted p.R353Q 1.000 30 0% 28 28.6% 3 0% probably_damaging(0.979) tolerated(0.26) neutral(0.456) NULL GNAS 2778 genome.wustl.edu 37 20 57415727 57415727 + Missense_Mutation SNP G G T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_016592.2 +1 reviewed p.R189M 0.014 10 0% 10 40% 0 - possibly_damaging(0.922) deleterious(0.02) deleterious(0.754) HMMPfam_NESP55 CDH26 60437 genome.wustl.edu 37 20 58560066 58560066 + Missense_Mutation SNP A A G novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_177980.2 +1 reviewed p.Q240R 0.000 80 0% 69 44.9% 0 - benign(0.008) tolerated(0.24) neutral(0.037) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin NRIP1 8204 genome.wustl.edu 37 21 16338588 16338588 + Frame_Shift_Del DEL G G - novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_003489.3 -1 reviewed p.M643fs 0.000 - - - - - - - - - NULL MRPL39 54148 genome.wustl.edu 37 21 26978959 26978959 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_080794.3 -1 reviewed p.A28T 0.167 89 0% 71 43.7% 32 43.7% benign(0.004) tolerated(0.14) neutral(0.249) NULL TIAM1 7074 genome.wustl.edu 37 21 32638961 32638961 + Missense_Mutation SNP G G T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_003253.2 -1 validated p.P110T 1.000 76 0% 91 31.9% 0 - benign(0.049) deleterious(0) neutral(0.448) NULL SYNJ1 8867 genome.wustl.edu 37 21 34015756 34015756 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_003895.3 -1 validated p.P1148S 1.000 359 0% 171 40.9% 0 - benign(0.323) tolerated(0.52) neutral(0.110) NULL DONSON 29980 genome.wustl.edu 37 21 34953768 34953768 + Missense_Mutation SNP G G T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_017613.2 -1 reviewed p.P397H 1.000 123 0% 93 38.7% 34 61.7% probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL DSCR3 10311 genome.wustl.edu 37 21 38600086 38600086 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb ENST00000309117 -1 known p.R227H 0.997 20 0% 22 45.5% 17 64.7% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_Vps26 COL18A1 80781 genome.wustl.edu 37 21 46888523 46888523 + Silent SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_130444.2 +1 reviewed p.F573 0.000 25 0% 30 53.3% 13 76.9% - - - HMMSmart_SM00210,superfamily_Concanavalin A-like lectins/glucanases CDC45 8318 genome.wustl.edu 37 22 19495353 19495353 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_003504.3 +1 reviewed p.R341W 0.998 113 0% 87 39.1% 60 53.3% probably_damaging(0.99) tolerated(0.13) deleterious(0.694) HMMPfam_CDC45 MED15 51586 genome.wustl.edu 37 22 20939198 20939198 + Silent SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001003891.1 +1 reviewed p.P620 0.262 28 0% 24 37.5% 97 47.4% - - - NULL TCN2 6948 genome.wustl.edu 37 22 31011718 31011718 + Missense_Mutation SNP T T C novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_000355.3 +1 reviewed p.V295A 0.053 78 0% 69 33.3% 4 75% probably_damaging(0.959) tolerated(0.66) neutral(0.405) HMMPfam_Cobalamin_bind LIMK2 3985 genome.wustl.edu 37 22 31661933 31661933 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001031801.1 +1 reviewed p.R265C 1.000 89 0% 48 52.1% 12 58.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SLC5A4 6527 genome.wustl.edu 37 22 32616924 32616924 + Missense_Mutation SNP T T A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_014227.2 -1 validated p.D584V 0.001 335 0% 298 39.3% 0 - benign(0.008) tolerated(0.08) neutral(0.300) NULL CSF2RB 1439 genome.wustl.edu 37 22 37318319 37318319 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_000395.2 +1 reviewed p.A24T 0.000 8 0.000 10 0.400 0 - possibly_damaging(0.833) deleterious(0.05) deleterious(0.663) NULL KDELR3 11015 genome.wustl.edu 37 22 38875737 38875738 + Frame_Shift_Del DEL AC AC - novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 AC AC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_016657.1 +1 reviewed p.Y111fs 1.000:0.996 - - - - - - - - - HMMPfam_ER_lumen_recept APOBEC3B 9582 genome.wustl.edu 37 22 39388407 39388407 + Missense_Mutation SNP T T C novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb ENST00000402182 +1 known p.C463R 0.002 190 1.1% 196 44.4% 1 100% benign(0.014) - - NULL CERK 64781 genome.wustl.edu 37 22 47116899 47116900 + Frame_Shift_Del DEL CA CA - novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 CA CA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_022766.5 -1 validated p.V52fs 0.818:0.822 - - - - - - - - - HMMSmart_PH KIR2DL5B 553128 genome.wustl.edu 37 GL000209.1 35881 35881 + Silent SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb ENST00000344867 +1 known p.I330 NULL 299 0% 264 6.1% 0 - - - - NULL ENSG00000211459 0 genome.wustl.edu 37 MT 727 727 + RNA SNP T T C novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb ENST00000389680 +1 known NULL NULL 19 0% 16 100% 1676 89.6% - - - - STS 412 genome.wustl.edu 37 X 7268151 7268151 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_000351.4 +1 reviewed p.A534V 0.000 140 0% 90 41.1% 2 100% benign(0.001) tolerated(1) - superfamily_Alkaline_phosphatase_core SHROOM2 357 genome.wustl.edu 37 X 9912913 9912913 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001649.2 +1 reviewed p.A1515V 1.000 41 0% 22 50% 5 0% probably_damaging(0.999) tolerated(0.21) deleterious(0.534) HMMPfam_ASD2 CLCN4 1183 genome.wustl.edu 37 X 10188720 10188720 + Silent SNP G G A rs2238892 TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001830.3 +1 reviewed p.Q665 1.000 200 0% 153 44.4% 2 0% - - - HMMPfam_CBS SH3KBP1 30011 genome.wustl.edu 37 X 19606544 19606544 + Silent SNP C C A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb ENST00000379697 -1 known p.A549 0.000 15 0% 41 34.1% 0 - - - - NULL DDX53 168400 genome.wustl.edu 37 X 23019918 23019918 + Missense_Mutation SNP T T A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_182699.2 +1 validated p.L582M 0.717 295 0% 214 43.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF52540 IL1RAPL1 11141 genome.wustl.edu 37 X 29973827 29973827 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_014271.3 +1 reviewed p.R661W 1.000 72 0% 62 46.8% 0 - probably_damaging(0.998) deleterious(0.03) deleterious(0.839) NULL CXorf27 25763 genome.wustl.edu 37 X 37850192 37850192 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_012274.1 +1 validated p.R34C 0.000 152 0% 98 43.9% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_Histone-fold BCOR 54880 genome.wustl.edu 37 X 39922961 39922961 + Silent SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001123385.1 -1 reviewed p.G1249 0.994 190 0% 147 46.9% 23 78.2% - - - NULL CDK16 5127 genome.wustl.edu 37 X 47085410 47085410 + Missense_Mutation SNP A A G novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_033018.3 +1 reviewed p.N265S 1.000 44 0% 40 40% 296 44.9% benign(0) tolerated(0.65) neutral(0.003) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase SSX3 10214 genome.wustl.edu 37 X 48206940 48206940 + Silent SNP T T C novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_021014.2 -1 reviewed p.*189 0.002 775 0% 705 29.8% 0 - - - - NULL RBM3 5935 genome.wustl.edu 37 X 48435516 48435516 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb ENST00000354480 +1 known p.A145V 0.000 75 0% 63 25.4% 7 0% unknown(0) - - NULL PQBP1 10084 genome.wustl.edu 37 X 48759668 48759669 + Frame_Shift_Del DEL AG AG - novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001032381.1 +1 reviewed p.E154fs 0.483:0.996 - - - - - - - - - NULL CLCN5 1184 genome.wustl.edu 37 X 49851169 49851169 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001127898.1 +1 reviewed p.G400D 1.000 156 0% 153 47.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Voltage_CLC,superfamily_Clc chloride channel SMC1A 8243 genome.wustl.edu 37 X 53439001 53439001 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_006306.2 -1 reviewed p.R353W 1.000 83 0% 123 44.7% 32 40.6% probably_damaging(0.994) deleterious(0.01) deleterious(0.858) HMMPfam_SMC_N,superfamily_SSF52540 ITIH6 347365 genome.wustl.edu 37 X 54815006 54815006 + Silent SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_198510.2 -1 reviewed p.L231 0.028 95 0% 118 12.7% 0 - - - - NULL FAM104B 90736 genome.wustl.edu 37 X 55172586 55172586 + Silent SNP G G T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb ENST00000489298 -1 known p.S92 0.008 218 0.5% 159 38.4% 88 0% - - - NULL ZXDA 7789 genome.wustl.edu 37 X 57935316 57935316 + Silent SNP A A G novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_007156.4 -1 reviewed p.P513 0.385 159 0.6% 103 65% 2 100% - - - PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2 TEX11 56159 genome.wustl.edu 37 X 69773239 69773239 + Missense_Mutation SNP G G C novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001003811.1 -1 reviewed p.H787Q 0.524 110 0% 60 31.7% 0 - possibly_damaging(0.907) tolerated(0.07) deleterious(0.679) NULL IL2RG 3561 genome.wustl.edu 37 X 70327598 70327598 + Silent SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_000206.2 -1 reviewed p.K366 0.423 86 0% 77 35.1% 25 0% - - - NULL ZMYM3 9203 genome.wustl.edu 37 X 70464252 70464252 + Silent SNP G G T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_005096.3 -1 reviewed p.T1060 0.284 108 0% 97 44.3% 13 100% - - - NULL TAF1 6872 genome.wustl.edu 37 X 70613215 70613215 + Missense_Mutation SNP G G C novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_004606.3 +1 reviewed p.R1059P 1.000 265 0% 176 43.8% 2 100% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL ATRX 546 genome.wustl.edu 37 X 76907772 76907772 + Silent SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_000489.3 -1 reviewed p.E1463 0.963 827 0.1% 649 46.5% 5 100% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases POU3F4 5456 genome.wustl.edu 37 X 82764246 82764246 + Missense_Mutation SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_000307.3 +1 reviewed p.A305V 1.000 65 0% 103 42.7% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like BEX2 84707 genome.wustl.edu 37 X 102564786 102564786 + Missense_Mutation SNP G G T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_032621.3 -1 reviewed p.P40H 0.001 281 0% 298 43.3% 1 0% benign(0.03) tolerated(0.22) neutral(0.044) HMMPfam_BEX RAB40A 142684 genome.wustl.edu 37 X 102754919 102754920 + Frame_Shift_Ins INS - - T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_080879.2 -1 reviewed p.V255fs 0.969:0.968 - - - - - - - - - NULL IL1RAPL2 26280 genome.wustl.edu 37 X 104512141 104512143 + In_Frame_Del DEL AAG AAG - novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 AAG AAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_017416.1 +1 reviewed p.E207in_frame_del 1.000:1.000:1.000 - - - - - - - - - HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin LOC642357 642357 genome.wustl.edu 37 X 114937592 114937592 + RNA SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb XR_016681.3 +1 model NULL 0.994 67 0% 93 38.7% 1 100% - - - - KIAA1210 57481 genome.wustl.edu 37 X 118223601 118223601 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_020721.1 -1 validated p.A531V 0.000 625 0% 461 43.8% 0 - possibly_damaging(0.515) - - NULL RHOXF2 84528 genome.wustl.edu 37 X 119293294 119293294 + Silent SNP C C T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_032498.1 +1 provisional p.R151 0.000 47 0% 40 27.5% 0 - - - - HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like THOC2 57187 genome.wustl.edu 37 X 122765552 122765552 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001081550.1 -1 validated p.A823V 1.000 539 0.2% 393 44.3% 5 100% possibly_damaging(0.469) tolerated(0.1) neutral(0.441) NULL THOC2 57187 genome.wustl.edu 37 X 122866864 122866864 + Silent SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_001081550.1 -1 validated p.A3 1.000 87 0% 24 33.3% 1 0% - - - NULL ODZ1 10178 genome.wustl.edu 37 X 123654620 123654620 + Silent SNP T T C novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_014253.3 -1 reviewed p.E1016 1.000 151 0% 154 42.9% 0 - - - - NULL PASD1 139135 genome.wustl.edu 37 X 150844532 150844532 + Missense_Mutation SNP G G A novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb NM_173493.2 +1 reviewed p.A747T 0.000 288 0.3% 168 49.4% 0 - possibly_damaging(0.873) tolerated(0.06) deleterious(0.661) NULL L1CAM 3897 genome.wustl.edu 37 X 153133822 153133822 + Silent SNP G G T novel TCGA-AP-A0LT-01A-11W-A062-09 TCGA-AP-A0LT-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 213a3663-c886-4de0-9510-09b8607a0187 af61fe3b-da5d-450f-b291-699013a1defb ENST00000455590 -1 known p.P4H 0.975 95 0% 86 47.7% 0 - - - - NULL