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 CTRC 11330 genome.wustl.edu 37 1 15770022 15770022 + Silent SNP C C T novel TCGA-D1-A16O-01A-11D-A12J-09 TCGA-D1-A16O-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8ab825e7-cc0c-4c63-ad5e-ca073d32eaa1 f161d1aa-794b-4faa-a60e-4d2b680f4578 NM_007272.2 +1 reviewed p.C155 1.000 43 0% 85 36.5% 1 0% - - - HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases ARID1A 8289 genome.wustl.edu 37 1 27107013 27107013 + Frame_Shift_Del DEL C C - novel TCGA-D1-A16O-01A-11D-A12J-09 TCGA-D1-A16O-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8ab825e7-cc0c-4c63-ad5e-ca073d32eaa1 f161d1aa-794b-4faa-a60e-4d2b680f4578 NM_006015.4 +1 reviewed p.Q2209fs 1.000 - - - - - - - - - NULL SRSF11 9295 genome.wustl.edu 37 1 70710389 70710389 + Missense_Mutation SNP C C T novel TCGA-D1-A16O-01A-11D-A12J-09 TCGA-D1-A16O-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8ab825e7-cc0c-4c63-ad5e-ca073d32eaa1 f161d1aa-794b-4faa-a60e-4d2b680f4578 NM_004768.2 +1 reviewed p.R275W 0.999 131 0% 238 39.9% 76 39.4% unknown(0) deleterious(0.01) - NULL LOC100132733 100132733 genome.wustl.edu 37 1 143265476 143265476 + Missense_Mutation SNP C C T novel TCGA-D1-A16O-01A-11D-A12J-09 TCGA-D1-A16O-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8ab825e7-cc0c-4c63-ad5e-ca073d32eaa1 f161d1aa-794b-4faa-a60e-4d2b680f4578 XM_001715342.2 -1 model p.D19N 0.248 29 0% 31 16.1% 0 - - - - NULL LINGO4 339398 genome.wustl.edu 37 1 151774060 151774060 + Missense_Mutation SNP C C T novel TCGA-D1-A16O-01A-11D-A12J-09 TCGA-D1-A16O-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8ab825e7-cc0c-4c63-ad5e-ca073d32eaa1 f161d1aa-794b-4faa-a60e-4d2b680f4578 NM_001004432.2 -1 provisional p.R374H 0.000 32 0% 71 31% 0 - benign(0.015) tolerated(0.16) neutral(0.060) HMMSmart_LRRCT,superfamily_SSF52058 GPA33 10223 genome.wustl.edu 37 1 167042624 167042624 + Missense_Mutation SNP T T G novel TCGA-D1-A16O-01A-11D-A12J-09 TCGA-D1-A16O-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8ab825e7-cc0c-4c63-ad5e-ca073d32eaa1 f161d1aa-794b-4faa-a60e-4d2b680f4578 NM_005814.1 -1 reviewed p.T66P 0.001 123 0% 372 26.9% 0 - benign(0.004) tolerated(0.12) neutral(0.261) HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin DNAH6 1768 genome.wustl.edu 37 2 84897542 84897542 + Missense_Mutation SNP G G C novel TCGA-D1-A16O-01A-11D-A12J-09 TCGA-D1-A16O-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8ab825e7-cc0c-4c63-ad5e-ca073d32eaa1 f161d1aa-794b-4faa-a60e-4d2b680f4578 NM_001370.1 +1 validated p.A2133P 0.902 209 1% 138 35.5% 3 0% benign(0.196) tolerated(0.22) neutral(0.060) HMMSmart_SM00382,HMMPfam_AAA_5,superfamily_P-loop containing nucleoside triphosphate hydrolases IGKV1-37 28931 genome.wustl.edu 37 2 89597038 89597038 + Missense_Mutation SNP G G A novel TCGA-D1-A16O-01A-11D-A12J-09 TCGA-D1-A16O-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8ab825e7-cc0c-4c63-ad5e-ca073d32eaa1 f161d1aa-794b-4faa-a60e-4d2b680f4578 ENST00000465170 -1 known p.R112W 0.004 227 0% 298 18.5% 0 - benign(0.288) deleterious(0) deleterious(0.533) HMMSmart_SM00406,superfamily_Immunoglobulin HS6ST1 9394 genome.wustl.edu 37 2 129025860 129025860 + Missense_Mutation SNP C C T rs147436494 by1000genomes TCGA-D1-A16O-01A-11D-A12J-09 TCGA-D1-A16O-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8ab825e7-cc0c-4c63-ad5e-ca073d32eaa1 f161d1aa-794b-4faa-a60e-4d2b680f4578 NM_004807.2 -1 reviewed p.R371H 1.000 21 0% 40 25% 8 0% probably_damaging(0.999) tolerated(0.06) deleterious(0.813) HMMPfam_HS6ST PIK3CB 5291 genome.wustl.edu 37 3 138417868 138417868 + Missense_Mutation SNP A A G novel TCGA-D1-A16O-01A-11D-A12J-09 TCGA-D1-A16O-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8ab825e7-cc0c-4c63-ad5e-ca073d32eaa1 f161d1aa-794b-4faa-a60e-4d2b680f4578 NM_006219.1 -1 provisional p.C551R 1.000 103 0% 115 41.7% 5 100% benign(0.105) tolerated(0.33) neutral(0.032) HMMPfam_PI3Ka,HMMSmart_PI3Ka,superfamily_ARM-type_fold KPNA4 3840 genome.wustl.edu 37 3 160227649 160227649 + Missense_Mutation SNP C C T novel TCGA-D1-A16O-01A-11D-A12J-09 TCGA-D1-A16O-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8ab825e7-cc0c-4c63-ad5e-ca073d32eaa1 f161d1aa-794b-4faa-a60e-4d2b680f4578 NM_002268.3 -1 reviewed p.G383D 1.000 400 0% 304 40.1% 25 52% benign(0.344) tolerated(0.46) neutral(0.120) HMMPfam_Arm,HMMSmart_SM00185,superfamily_ARM repeat PIK3CA 5290 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A rs104886003 byCluster TCGA-D1-A16O-01A-11D-A12J-09 TCGA-D1-A16O-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8ab825e7-cc0c-4c63-ad5e-ca073d32eaa1 f161d1aa-794b-4faa-a60e-4d2b680f4578 NM_006218.2 +1 reviewed p.E545K 1.000 174 0% 105 37.1% 5 40% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_PI3Ka,HMMSmart_PI3Ka,superfamily_ARM-type_fold WDFY3 23001 genome.wustl.edu 37 4 85600284 85600284 + Missense_Mutation SNP C C T novel TCGA-D1-A16O-01A-11D-A12J-09 TCGA-D1-A16O-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8ab825e7-cc0c-4c63-ad5e-ca073d32eaa1 f161d1aa-794b-4faa-a60e-4d2b680f4578 NM_014991.4 -1 reviewed p.R3312Q 0.392 100 0% 133 41.4% 9 11.1% benign(0.404) tolerated(0.41) neutral(0.145) superfamily_WD40 repeat-like CDH18 1016 genome.wustl.edu 37 5 19747280 19747280 + Silent SNP C C T novel TCGA-D1-A16O-01A-11D-A12J-09 TCGA-D1-A16O-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8ab825e7-cc0c-4c63-ad5e-ca073d32eaa1 f161d1aa-794b-4faa-a60e-4d2b680f4578 NM_004934.3 -1 reviewed p.G98 1.000 213 0% 327 43.7% 0 - - - - HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin RAB3C 115827 genome.wustl.edu 37 5 58147161 58147161 + Missense_Mutation SNP C C T novel TCGA-D1-A16O-01A-11D-A12J-09 TCGA-D1-A16O-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8ab825e7-cc0c-4c63-ad5e-ca073d32eaa1 f161d1aa-794b-4faa-a60e-4d2b680f4578 NM_138453.2 +1 provisional p.P223S 1.000 40 0% 106 43.4% 1 100% benign(0) tolerated(1) - superfamily_SSF52540 SLC6A7 6534 genome.wustl.edu 37 5 149576810 149576810 + Silent SNP C C T novel TCGA-D1-A16O-01A-11D-A12J-09 TCGA-D1-A16O-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8ab825e7-cc0c-4c63-ad5e-ca073d32eaa1 f161d1aa-794b-4faa-a60e-4d2b680f4578 NM_014228.3 +1 validated p.C185 0.988 24 0% 70 45.7% 0 - - - - HMMPfam_SNF KCND2 3751 genome.wustl.edu 37 7 120381610 120381610 + Missense_Mutation SNP G G C novel TCGA-D1-A16O-01A-11D-A12J-09 TCGA-D1-A16O-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8ab825e7-cc0c-4c63-ad5e-ca073d32eaa1 f161d1aa-794b-4faa-a60e-4d2b680f4578 NM_012281.2 +1 reviewed p.R434P 1.000 188 0% 164 39% 0 - benign(0) deleterious(0) neutral(0.445) NULL ERCC6 2074 genome.wustl.edu 37 10 50681554 50681554 + Nonsense_Mutation SNP G G T novel TCGA-D1-A16O-01A-11D-A12J-09 TCGA-D1-A16O-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8ab825e7-cc0c-4c63-ad5e-ca073d32eaa1 f161d1aa-794b-4faa-a60e-4d2b680f4578 NM_000124.2 -1 reviewed p.S893* 0.999 318 0% 533 42% 1 0% - - - HMMPfam_Helicase_C,HMMSmart_HELICc,superfamily_SSF52540 PTEN 5728 genome.wustl.edu 37 10 89720799 89720802 + Frame_Shift_Del DEL TACT TACT - novel TCGA-D1-A16O-01A-11D-A12J-09 TCGA-D1-A16O-10A-01D-A12J-09 TACT TACT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8ab825e7-cc0c-4c63-ad5e-ca073d32eaa1 f161d1aa-794b-4faa-a60e-4d2b680f4578 ENST00000371953 +1 known p.T319fs 1.000:1.000:1.000:1.000 - - - - - - - - - superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_PTEN_C2 ADAM12 8038 genome.wustl.edu 37 10 127806693 127806693 + Missense_Mutation SNP G G A novel TCGA-D1-A16O-01A-11D-A12J-09 TCGA-D1-A16O-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8ab825e7-cc0c-4c63-ad5e-ca073d32eaa1 f161d1aa-794b-4faa-a60e-4d2b680f4578 NM_003474.4 -1 reviewed p.R176W 0.007 241 0% 380 41.6% 0 - benign(0) deleterious(0.03) neutral(0.364) NULL KRAS 3845 genome.wustl.edu 37 12 25398280 25398280 + Silent SNP G G A novel TCGA-D1-A16O-01A-11D-A12J-09 TCGA-D1-A16O-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8ab825e7-cc0c-4c63-ad5e-ca073d32eaa1 f161d1aa-794b-4faa-a60e-4d2b680f4578 NM_033360.2 -1 reviewed p.G13 1.000 212 0% 296 57.1% 5 40% - - - HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases KRAS 3845 genome.wustl.edu 37 12 25398281 25398281 + Missense_Mutation SNP C C A rs112445441 byCluster TCGA-D1-A16O-01A-11D-A12J-09 TCGA-D1-A16O-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8ab825e7-cc0c-4c63-ad5e-ca073d32eaa1 f161d1aa-794b-4faa-a60e-4d2b680f4578 NM_033360.2 -1 reviewed p.G13V 1.000 212 0% 297 54.9% 5 40% probably_damaging(0.991) deleterious(0.03) deleterious(0.808) HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases KRT2 3849 genome.wustl.edu 37 12 53042043 53042043 + Missense_Mutation SNP C C A novel TCGA-D1-A16O-01A-11D-A12J-09 TCGA-D1-A16O-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8ab825e7-cc0c-4c63-ad5e-ca073d32eaa1 f161d1aa-794b-4faa-a60e-4d2b680f4578 NM_000423.2 -1 reviewed p.D346Y 1.000 255 0% 780 26.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Filament KRT3 3850 genome.wustl.edu 37 12 53185077 53185077 + Missense_Mutation SNP C C T novel TCGA-D1-A16O-01A-11D-A12J-09 TCGA-D1-A16O-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8ab825e7-cc0c-4c63-ad5e-ca073d32eaa1 f161d1aa-794b-4faa-a60e-4d2b680f4578 NM_057088.2 -1 reviewed p.R483H 0.523 82 0% 280 48.6% 0 - probably_damaging(0.999) tolerated(0.06) deleterious(0.813) HMMPfam_Filament SLC25A21 89874 genome.wustl.edu 37 14 37194792 37194792 + Missense_Mutation SNP G G A novel TCGA-D1-A16O-01A-11D-A12J-09 TCGA-D1-A16O-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8ab825e7-cc0c-4c63-ad5e-ca073d32eaa1 f161d1aa-794b-4faa-a60e-4d2b680f4578 NM_030631.3 -1 validated p.R141W 1.000 138 0% 125 39.2% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Mitoch_carrier,HMMPfam_Mito_carr SSTR1 6751 genome.wustl.edu 37 14 38679057 38679057 + Missense_Mutation SNP C C T novel TCGA-D1-A16O-01A-11D-A12J-09 TCGA-D1-A16O-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8ab825e7-cc0c-4c63-ad5e-ca073d32eaa1 f161d1aa-794b-4faa-a60e-4d2b680f4578 NM_001049.2 +1 reviewed p.R155C 1.000 44 0% 163 33.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 SERPINA5 5104 genome.wustl.edu 37 14 95056501 95056501 + Missense_Mutation SNP G G T novel TCGA-D1-A16O-01A-11D-A12J-09 TCGA-D1-A16O-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8ab825e7-cc0c-4c63-ad5e-ca073d32eaa1 f161d1aa-794b-4faa-a60e-4d2b680f4578 NM_000624.4 +1 validated p.R248L 0.001 97 0% 188 40.4% 54 40.7% possibly_damaging(0.656) deleterious(0.04) deleterious(0.580) HMMPfam_Serpin,HMMSmart_SM00093,superfamily_Serpins MED24 9862 genome.wustl.edu 37 17 38179608 38179608 + Frame_Shift_Del DEL C C - novel TCGA-D1-A16O-01A-11D-A12J-09 TCGA-D1-A16O-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8ab825e7-cc0c-4c63-ad5e-ca073d32eaa1 f161d1aa-794b-4faa-a60e-4d2b680f4578 NM_014815.3 -1 reviewed p.D676fs 0.998 - - - - - - - - - NULL MED24 9862 genome.wustl.edu 37 17 38186102 38186102 + Nonsense_Mutation SNP G G A novel TCGA-D1-A16O-01A-11D-A12J-09 TCGA-D1-A16O-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8ab825e7-cc0c-4c63-ad5e-ca073d32eaa1 f161d1aa-794b-4faa-a60e-4d2b680f4578 NM_014815.3 -1 reviewed p.R389* 1.000 330 0% 737 39.6% 16 12.5% - - - NULL CNP 1267 genome.wustl.edu 37 17 40120686 40120718 + In_Frame_Del DEL CTCCGCAAAGCCGGCCAGGTCTTCCTGGAAGAG CTCCGCAAAGCCGGCCAGGTCTTCCTGGAAGAG - novel TCGA-D1-A16O-01A-11D-A12J-09 TCGA-D1-A16O-10A-01D-A12J-09 CTCCGCAAAGCCGGCCAGGTCTTCCTGGAAGAG CTCCGCAAAGCCGGCCAGGTCTTCCTGGAAGAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8ab825e7-cc0c-4c63-ad5e-ca073d32eaa1 f161d1aa-794b-4faa-a60e-4d2b680f4578 NM_033133.4 +1 validated p.RKAGQVFLEEL203in_frame_del 0.826:0.829:0.110:0.022:0.012:0.010:0.231:0.227:0.100:0.078:0.061:0.004:0.961:0.987:0.986:1.000:1.000:1.000:0.999:0.998:0.991:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.996:1.000:1.000:1.000 - - - - - - - - - HMMPfam_CNPase,superfamily_LigT-like KANSL1 284058 genome.wustl.edu 37 17 44172014 44172017 + Frame_Shift_Del DEL CGGC CGGC - novel TCGA-D1-A16O-01A-11D-A12J-09 TCGA-D1-A16O-10A-01D-A12J-09 CGGC CGGC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8ab825e7-cc0c-4c63-ad5e-ca073d32eaa1 f161d1aa-794b-4faa-a60e-4d2b680f4578 NM_015443.2 -1 validated p.S447fs 1.000:1.000:1.000:1.000 - - - - - - - - - NULL KANSL1 284058 genome.wustl.edu 37 17 44172019 44172026 + Frame_Shift_Del DEL GACAATAG GACAATAG - novel TCGA-D1-A16O-01A-11D-A12J-09 TCGA-D1-A16O-10A-01D-A12J-09 GACAATAG GACAATAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8ab825e7-cc0c-4c63-ad5e-ca073d32eaa1 f161d1aa-794b-4faa-a60e-4d2b680f4578 NM_015443.2 -1 validated p.A444fs 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 - - - - - - - - - NULL ARHGEF18 23370 genome.wustl.edu 37 19 7521237 7521237 + Missense_Mutation SNP A A G novel TCGA-D1-A16O-01A-11D-A12J-09 TCGA-D1-A16O-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8ab825e7-cc0c-4c63-ad5e-ca073d32eaa1 f161d1aa-794b-4faa-a60e-4d2b680f4578 NM_001130955.1 +1 reviewed p.D522G 0.998 194 0% 415 39.8% 26 65.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like TSHZ3 57616 genome.wustl.edu 37 19 31767496 31767496 + Missense_Mutation SNP G G A novel TCGA-D1-A16O-01A-11D-A12J-09 TCGA-D1-A16O-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8ab825e7-cc0c-4c63-ad5e-ca073d32eaa1 f161d1aa-794b-4faa-a60e-4d2b680f4578 NM_020856.2 -1 validated p.P1068L 1.000 287 0% 517 35.6% 11 0% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL RYR1 6261 genome.wustl.edu 37 19 38995394 38995394 + Missense_Mutation SNP G G A novel TCGA-D1-A16O-01A-11D-A12J-09 TCGA-D1-A16O-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8ab825e7-cc0c-4c63-ad5e-ca073d32eaa1 f161d1aa-794b-4faa-a60e-4d2b680f4578 NM_000540.2 +1 reviewed p.D2692N 1.000 35 0% 121 45.5% 0 - probably_damaging(0.994) - - NULL CYP2F1 1572 genome.wustl.edu 37 19 41627960 41627960 + Silent SNP C C T novel TCGA-D1-A16O-01A-11D-A12J-09 TCGA-D1-A16O-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8ab825e7-cc0c-4c63-ad5e-ca073d32eaa1 f161d1aa-794b-4faa-a60e-4d2b680f4578 NM_000774.3 +1 reviewed p.S248 0.000 46 0% 184 47.8% 0 - - - - HMMPfam_p450,superfamily_Cytochrome P450 SIGLEC10 89790 genome.wustl.edu 37 19 51919315 51919315 + Silent SNP G G A novel TCGA-D1-A16O-01A-11D-A12J-09 TCGA-D1-A16O-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8ab825e7-cc0c-4c63-ad5e-ca073d32eaa1 f161d1aa-794b-4faa-a60e-4d2b680f4578 NM_033130.4 -1 validated p.S287 1.000 40 0% 46 32.6% 1 100% - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin ASXL1 171023 genome.wustl.edu 37 20 31022447 31022447 + Silent SNP G G T novel TCGA-D1-A16O-01A-11D-A12J-09 TCGA-D1-A16O-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8ab825e7-cc0c-4c63-ad5e-ca073d32eaa1 f161d1aa-794b-4faa-a60e-4d2b680f4578 NM_015338.5 +1 reviewed p.G644 1.000 8 0.000 17 0.471 5 20% - - - NULL MYH7B 57644 genome.wustl.edu 37 20 33573915 33573915 + Missense_Mutation SNP A A G novel TCGA-D1-A16O-01A-11D-A12J-09 TCGA-D1-A16O-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8ab825e7-cc0c-4c63-ad5e-ca073d32eaa1 f161d1aa-794b-4faa-a60e-4d2b680f4578 NM_020884.3 +1 reviewed p.K315R 1.000 50 0% 85 38.8% 0 - probably_damaging(0.984) deleterious(0) deleterious(0.875) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases KCNQ2 3785 genome.wustl.edu 37 20 62050978 62050978 + Missense_Mutation SNP C C T novel TCGA-D1-A16O-01A-11D-A12J-09 TCGA-D1-A16O-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8ab825e7-cc0c-4c63-ad5e-ca073d32eaa1 f161d1aa-794b-4faa-a60e-4d2b680f4578 NM_172107.2 -1 reviewed p.R432H 1.000 19 0% 31 29% 0 - benign(0) tolerated(0.16) neutral(0.059) NULL SPECC1L 23384 genome.wustl.edu 37 22 24807663 24807663 + Silent SNP C C T novel TCGA-D1-A16O-01A-11D-A12J-09 TCGA-D1-A16O-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8ab825e7-cc0c-4c63-ad5e-ca073d32eaa1 f161d1aa-794b-4faa-a60e-4d2b680f4578 NM_001145468.1 +1 validated p.S1065 1.000 69 0% 159 34% 25 56% - - - HMMPfam_CH,HMMSmart_SM00033,superfamily_Calponin-homology domain CH-domain CXorf59 286464 genome.wustl.edu 37 X 36103590 36103590 + Silent SNP A A G novel TCGA-D1-A16O-01A-11D-A12J-09 TCGA-D1-A16O-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8ab825e7-cc0c-4c63-ad5e-ca073d32eaa1 f161d1aa-794b-4faa-a60e-4d2b680f4578 NM_173695.2 +1 validated p.V192 0.017 153 0% 132 32.6% 2 100% - - - NULL LOC729275 729275 genome.wustl.edu 37 X 48434097 48434097 + RNA SNP G G A novel TCGA-D1-A16O-01A-11D-A12J-09 TCGA-D1-A16O-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8ab825e7-cc0c-4c63-ad5e-ca073d32eaa1 f161d1aa-794b-4faa-a60e-4d2b680f4578 XR_078586.1 -1 model NULL 0.011 44 0% 92 43.5% 15 0% - - - -