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 UBR4 23352 genome.wustl.edu 37 1 19411101 19411101 + Missense_Mutation SNP C C T novel TCGA-FI-A2F8-01A-12D-A17D-09 TCGA-FI-A2F8-10B-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5eea6de-5e8e-41ca-930f-e7e48c855c36 6b354f12-59dd-455e-b313-1d655b72a30c NM_020765.2 -1 validated p.A4969T 1.000 58 0% 72 19.4% - - benign(0) tolerated(0.13) neutral(0.253) NULL HIST2H3D 653604 genome.wustl.edu 37 1 149785071 149785071 + Nonsense_Mutation SNP G G A novel TCGA-FI-A2F8-01A-12D-A17D-09 TCGA-FI-A2F8-10B-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5eea6de-5e8e-41ca-930f-e7e48c855c36 6b354f12-59dd-455e-b313-1d655b72a30c NM_001123375.1 -1 provisional p.Q56* 1.000 46 0% 85 10.6% - - - - - HMMSmart_SM00428,superfamily_Histone-fold NTRK1 4914 genome.wustl.edu 37 1 156849143 156849143 + Missense_Mutation SNP G G A novel TCGA-FI-A2F8-01A-12D-A17D-09 TCGA-FI-A2F8-10B-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5eea6de-5e8e-41ca-930f-e7e48c855c36 6b354f12-59dd-455e-b313-1d655b72a30c NM_002529.3 +1 reviewed p.D679N 1.000 20 0% 20 20% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,PatternScan_RECEPTOR_TYR_KIN_II,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) RYR2 6262 genome.wustl.edu 37 1 237813313 237813313 + Missense_Mutation SNP A A T novel TCGA-FI-A2F8-01A-12D-A17D-09 TCGA-FI-A2F8-10B-01D-A17D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5eea6de-5e8e-41ca-930f-e7e48c855c36 6b354f12-59dd-455e-b313-1d655b72a30c NM_001035.2 +1 reviewed p.H2550L 1.000 82 0% 73 20.5% - - possibly_damaging(0.935) - - NULL AHCTF1 25909 genome.wustl.edu 37 1 247013191 247013191 + Silent SNP C C T novel TCGA-FI-A2F8-01A-12D-A17D-09 TCGA-FI-A2F8-10B-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5eea6de-5e8e-41ca-930f-e7e48c855c36 6b354f12-59dd-455e-b313-1d655b72a30c NM_015446.4 -1 validated p.S2039 0.000 132 0% 148 35.1% - - - - - NULL OR11L1 391189 genome.wustl.edu 37 1 248004555 248004555 + Missense_Mutation SNP A A C novel TCGA-FI-A2F8-01A-12D-A17D-09 TCGA-FI-A2F8-10B-01D-A17D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5eea6de-5e8e-41ca-930f-e7e48c855c36 6b354f12-59dd-455e-b313-1d655b72a30c NM_001001959.1 -1 provisional p.L215R 0.002 58 0% 47 38.3% - - probably_damaging(0.991) deleterious(0.01) deleterious(0.850) HMMPfam_7tm_1,superfamily_SSF81321 TSN 7247 genome.wustl.edu 37 2 122522843 122522843 + Missense_Mutation SNP A A G novel TCGA-FI-A2F8-01A-12D-A17D-09 TCGA-FI-A2F8-10B-01D-A17D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5eea6de-5e8e-41ca-930f-e7e48c855c36 6b354f12-59dd-455e-b313-1d655b72a30c NM_004622.2 +1 reviewed p.D196G 1.000 33 0% 30 26.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Translin,superfamily_Translin DFNB59 494513 genome.wustl.edu 37 2 179325077 179325077 + Missense_Mutation SNP C C G novel TCGA-FI-A2F8-01A-12D-A17D-09 TCGA-FI-A2F8-10B-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5eea6de-5e8e-41ca-930f-e7e48c855c36 6b354f12-59dd-455e-b313-1d655b72a30c NM_001042702.3 +1 reviewed p.L224V 1.000 41 0% 77 37.7% - - benign(0) tolerated(0.28) neutral(0.032) HMMPfam_Gasdermin TTN 7273 genome.wustl.edu 37 2 179454237 179454237 + Missense_Mutation SNP A A G novel TCGA-FI-A2F8-01A-12D-A17D-09 TCGA-FI-A2F8-10B-01D-A17D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5eea6de-5e8e-41ca-930f-e7e48c855c36 6b354f12-59dd-455e-b313-1d655b72a30c ENST00000356127 -1 known p.Y18169H 1.000 57 0% 73 11% - - benign(0.049) - - HMMPfam_fn3,HMMSmart_SM00060 PLCL1 5334 genome.wustl.edu 37 2 198948617 198948617 + Missense_Mutation SNP C C A novel TCGA-FI-A2F8-01A-12D-A17D-09 TCGA-FI-A2F8-10B-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5eea6de-5e8e-41ca-930f-e7e48c855c36 6b354f12-59dd-455e-b313-1d655b72a30c NM_006226.3 +1 validated p.P28T 0.995 60 0% 38 15.8% - - benign(0.003) tolerated(0.35) neutral(0.021) HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 RUFY4 285180 genome.wustl.edu 37 2 218954538 218954538 + Frame_Shift_Del DEL A A - novel TCGA-FI-A2F8-01A-12D-A17D-09 TCGA-FI-A2F8-10B-01D-A17D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5eea6de-5e8e-41ca-930f-e7e48c855c36 6b354f12-59dd-455e-b313-1d655b72a30c ENST00000374155 +1 known p.H603fs 0.000 - - - - - - - - - NULL GIGYF2 26058 genome.wustl.edu 37 2 233712227 233712229 + In_Frame_Del DEL ACA ACA - rs58340018 TCGA-FI-A2F8-01A-12D-A17D-09 TCGA-FI-A2F8-10B-01D-A17D-09 ACA ACA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5eea6de-5e8e-41ca-930f-e7e48c855c36 6b354f12-59dd-455e-b313-1d655b72a30c NM_001103147.1 +1 reviewed p.Q1235in_frame_del 0.057:0.094:0.124 - - - - - - - - - NULL SATB1 6304 genome.wustl.edu 37 3 18390802 18390802 + Missense_Mutation SNP C C G novel TCGA-FI-A2F8-01A-12D-A17D-09 TCGA-FI-A2F8-10B-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5eea6de-5e8e-41ca-930f-e7e48c855c36 6b354f12-59dd-455e-b313-1d655b72a30c NM_001131010.1 -1 validated p.E718Q 0.998 80 0% 70 14.3% - - benign(0.026) deleterious(0.01) neutral(0.407) NULL VPRBP 9730 genome.wustl.edu 37 3 51458180 51458180 + Missense_Mutation SNP G G C novel TCGA-FI-A2F8-01A-12D-A17D-09 TCGA-FI-A2F8-10B-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5eea6de-5e8e-41ca-930f-e7e48c855c36 6b354f12-59dd-455e-b313-1d655b72a30c NM_014703.2 -1 validated p.I695M 1.000 46 0% 51 13.7% - - possibly_damaging(0.951) deleterious(0) deleterious(0.839) superfamily_ARM repeat IFT122 55764 genome.wustl.edu 37 3 129239079 129239079 + Missense_Mutation SNP C C T novel TCGA-FI-A2F8-01A-12D-A17D-09 TCGA-FI-A2F8-10B-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5eea6de-5e8e-41ca-930f-e7e48c855c36 6b354f12-59dd-455e-b313-1d655b72a30c NM_052985.2 +1 reviewed p.R1284C 1.000 41 0% 50 16% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL PPM1L 151742 genome.wustl.edu 37 3 160783197 160783197 + Missense_Mutation SNP C C A novel TCGA-FI-A2F8-01A-12D-A17D-09 TCGA-FI-A2F8-10B-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5eea6de-5e8e-41ca-930f-e7e48c855c36 6b354f12-59dd-455e-b313-1d655b72a30c NM_139245.2 +1 provisional p.T194K 0.993 59 0% 48 22.9% - - probably_damaging(0.98) deleterious(0) deleterious(0.869) HMMSmart_SM00331,HMMSmart_SM00332,superfamily_Protein serine/threonine phosphatase 2C catalytic domain,HMMPfam_PP2C RNF180 285671 genome.wustl.edu 37 5 63626180 63626181 + Frame_Shift_Ins INS - - CT novel TCGA-FI-A2F8-01A-12D-A17D-09 TCGA-FI-A2F8-10B-01D-A17D-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5eea6de-5e8e-41ca-930f-e7e48c855c36 6b354f12-59dd-455e-b313-1d655b72a30c NM_001113561.1 +1 validated p.A511fs 1.000:1.000 - - - - - - - - - NULL BDP1 55814 genome.wustl.edu 37 5 70805343 70805343 + Silent SNP G G A novel TCGA-FI-A2F8-01A-12D-A17D-09 TCGA-FI-A2F8-10B-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5eea6de-5e8e-41ca-930f-e7e48c855c36 6b354f12-59dd-455e-b313-1d655b72a30c NM_018429.2 +1 reviewed p.R808 0.628 36 0% 24 33.3% - - - - - NULL DMXL1 1657 genome.wustl.edu 37 5 118552679 118552679 + Silent SNP T T C novel TCGA-FI-A2F8-01A-12D-A17D-09 TCGA-FI-A2F8-10B-01D-A17D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5eea6de-5e8e-41ca-930f-e7e48c855c36 6b354f12-59dd-455e-b313-1d655b72a30c NM_005509.4 +1 validated p.N2649 1.000 92 0% 52 21.2% - - - - - superfamily_WD40 repeat-like HIST1H3B 8358 genome.wustl.edu 37 6 26032031 26032031 + Silent SNP C C T novel TCGA-FI-A2F8-01A-12D-A17D-09 TCGA-FI-A2F8-10B-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5eea6de-5e8e-41ca-930f-e7e48c855c36 6b354f12-59dd-455e-b313-1d655b72a30c NM_003537.3 -1 reviewed p.Q86 1.000 46 0% 37 27% - - - - - HMMSmart_SM00428,HMMPfam_Histone,superfamily_Histone-fold IBTK 25998 genome.wustl.edu 37 6 82924048 82924048 + Missense_Mutation SNP G G C novel TCGA-FI-A2F8-01A-12D-A17D-09 TCGA-FI-A2F8-10B-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5eea6de-5e8e-41ca-930f-e7e48c855c36 6b354f12-59dd-455e-b313-1d655b72a30c NM_015525.2 -1 reviewed p.S700R 0.330 90 0% 100 30% - - benign(0.246) tolerated(0.45) neutral(0.037) HMMSmart_SM00225 MDN1 23195 genome.wustl.edu 37 6 90371820 90371820 + Missense_Mutation SNP C C G novel TCGA-FI-A2F8-01A-12D-A17D-09 TCGA-FI-A2F8-10B-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5eea6de-5e8e-41ca-930f-e7e48c855c36 6b354f12-59dd-455e-b313-1d655b72a30c NM_014611.1 -1 provisional p.E4851Q 1.000 191 0% 294 15.6% - - probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL METTL24 728464 genome.wustl.edu 37 6 110567215 110567215 + Missense_Mutation SNP C C G novel TCGA-FI-A2F8-01A-12D-A17D-09 TCGA-FI-A2F8-10B-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5eea6de-5e8e-41ca-930f-e7e48c855c36 6b354f12-59dd-455e-b313-1d655b72a30c NM_001123364.1 -1 inferred p.L345F 1.000 87 0% 86 20.9% - - probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL POU6F2 11281 genome.wustl.edu 37 7 39504198 39504198 + Silent SNP G G A novel TCGA-FI-A2F8-01A-12D-A17D-09 TCGA-FI-A2F8-10B-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5eea6de-5e8e-41ca-930f-e7e48c855c36 6b354f12-59dd-455e-b313-1d655b72a30c NM_007252.3 +1 reviewed p.K663 1.000 31 0% 27 22.2% - - - - - HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like IQUB 154865 genome.wustl.edu 37 7 123143077 123143077 + Missense_Mutation SNP A A G novel TCGA-FI-A2F8-01A-12D-A17D-09 TCGA-FI-A2F8-10B-01D-A17D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5eea6de-5e8e-41ca-930f-e7e48c855c36 6b354f12-59dd-455e-b313-1d655b72a30c NM_178827.4 -1 validated p.V263A 0.927 68 0% 62 40.3% - - benign(0.03) tolerated(0.74) neutral(0.003) NULL TMEM213 155006 genome.wustl.edu 37 7 138487764 138487764 + Missense_Mutation SNP G G A novel TCGA-FI-A2F8-01A-12D-A17D-09 TCGA-FI-A2F8-10B-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5eea6de-5e8e-41ca-930f-e7e48c855c36 6b354f12-59dd-455e-b313-1d655b72a30c NM_001085429.1 +1 validated p.D92N 0.987 23 0% 40 15% - - possibly_damaging(0.507) deleterious(0) deleterious(0.614) NULL CSMD1 64478 genome.wustl.edu 37 8 2813247 2813247 + Silent SNP C C G novel TCGA-FI-A2F8-01A-12D-A17D-09 TCGA-FI-A2F8-10B-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5eea6de-5e8e-41ca-930f-e7e48c855c36 6b354f12-59dd-455e-b313-1d655b72a30c NM_033225.5 -1 validated p.V3287 0.995 55 0% 96 29.2% - - - - - HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain LONRF1 91694 genome.wustl.edu 37 8 12580661 12580661 + Silent SNP G G T novel TCGA-FI-A2F8-01A-12D-A17D-09 TCGA-FI-A2F8-10B-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5eea6de-5e8e-41ca-930f-e7e48c855c36 6b354f12-59dd-455e-b313-1d655b72a30c NM_152271.3 -1 provisional p.R756 0.998 44 0% 32 50% - - - - - HMMPfam_LON,HMMSmart_SM00464 TGFBR1 7046 genome.wustl.edu 37 9 101891138 101891138 + Silent SNP G G A novel TCGA-FI-A2F8-01A-12D-A17D-09 TCGA-FI-A2F8-10B-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5eea6de-5e8e-41ca-930f-e7e48c855c36 6b354f12-59dd-455e-b313-1d655b72a30c NM_004612.2 +1 reviewed p.A33 0.884 28 0% 26 23.1% - - - - - superfamily_Snake toxin-like ZDHHC12 84885 genome.wustl.edu 37 9 131484864 131484864 + Silent SNP C C T novel TCGA-FI-A2F8-01A-12D-A17D-09 TCGA-FI-A2F8-10B-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5eea6de-5e8e-41ca-930f-e7e48c855c36 6b354f12-59dd-455e-b313-1d655b72a30c ENST00000406904 -1 known p.P85 0.206 16 0% 24 45.8% - - - - - NULL ANK3 288 genome.wustl.edu 37 10 61828434 61828434 + Missense_Mutation SNP C C T novel TCGA-FI-A2F8-01A-12D-A17D-09 TCGA-FI-A2F8-10B-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5eea6de-5e8e-41ca-930f-e7e48c855c36 6b354f12-59dd-455e-b313-1d655b72a30c NM_020987.2 -1 reviewed p.E4069K 1.000 88 0% 103 13.6% - - benign(0.004) - - NULL ANK3 288 genome.wustl.edu 37 10 61832731 61832731 + Silent SNP C C T novel TCGA-FI-A2F8-01A-12D-A17D-09 TCGA-FI-A2F8-10B-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5eea6de-5e8e-41ca-930f-e7e48c855c36 6b354f12-59dd-455e-b313-1d655b72a30c NM_020987.2 -1 reviewed p.L2636 0.023 35 0% 49 14.3% - - - - - NULL ZNF365 22891 genome.wustl.edu 37 10 64136210 64136210 + Missense_Mutation SNP G G T novel TCGA-FI-A2F8-01A-12D-A17D-09 TCGA-FI-A2F8-10B-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5eea6de-5e8e-41ca-930f-e7e48c855c36 6b354f12-59dd-455e-b313-1d655b72a30c NM_199451.2 +1 reviewed p.Q86H 0.000 50 0% 50 34% - - benign(0.075) tolerated(0.13) neutral(0.258) NULL FAM149B1 317662 genome.wustl.edu 37 10 74968500 74968500 + Silent SNP A A G novel TCGA-FI-A2F8-01A-12D-A17D-09 TCGA-FI-A2F8-10B-01D-A17D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5eea6de-5e8e-41ca-930f-e7e48c855c36 6b354f12-59dd-455e-b313-1d655b72a30c ENST00000372955 +1 known p.Q163R 0.042 59 0% 53 26.4% - - - - - NULL CPEB3 22849 genome.wustl.edu 37 10 93870875 93870875 + Missense_Mutation SNP T T G novel TCGA-FI-A2F8-01A-12D-A17D-09 TCGA-FI-A2F8-10B-01D-A17D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5eea6de-5e8e-41ca-930f-e7e48c855c36 6b354f12-59dd-455e-b313-1d655b72a30c NM_014912.4 -1 validated p.K510N 1.000 40 0% 24 16.7% - - probably_damaging(0.969) tolerated(0.08) deleterious(0.712) HMMSmart_SM00360 GBF1 8729 genome.wustl.edu 37 10 104140884 104140884 + Missense_Mutation SNP A A G novel TCGA-FI-A2F8-01A-12D-A17D-09 TCGA-FI-A2F8-10B-01D-A17D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5eea6de-5e8e-41ca-930f-e7e48c855c36 6b354f12-59dd-455e-b313-1d655b72a30c NM_004193.1 +1 provisional p.D1724G 1.000 25 0% 26 15.4% - - benign(0.01) tolerated(0.37) neutral(0.019) NULL GPAM 57678 genome.wustl.edu 37 10 113928680 113928680 + Silent SNP G G A novel TCGA-FI-A2F8-01A-12D-A17D-09 TCGA-FI-A2F8-10B-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5eea6de-5e8e-41ca-930f-e7e48c855c36 6b354f12-59dd-455e-b313-1d655b72a30c NM_020918.4 -1 validated p.F275 1.000 53 0% 42 14.3% - - - - - HMMPfam_Acyltransferase,HMMSmart_PlsC,superfamily_SSF69593 GPAM 57678 genome.wustl.edu 37 10 113932005 113932005 + Silent SNP G G A novel TCGA-FI-A2F8-01A-12D-A17D-09 TCGA-FI-A2F8-10B-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5eea6de-5e8e-41ca-930f-e7e48c855c36 6b354f12-59dd-455e-b313-1d655b72a30c NM_020918.4 -1 validated p.L243 1.000 59 0% 66 12.1% - - - - - HMMPfam_Acyltransferase,HMMSmart_PlsC,superfamily_SSF69593 GPAM 57678 genome.wustl.edu 37 10 113935425 113935425 + Nonsense_Mutation SNP G G A novel TCGA-FI-A2F8-01A-12D-A17D-09 TCGA-FI-A2F8-10B-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5eea6de-5e8e-41ca-930f-e7e48c855c36 6b354f12-59dd-455e-b313-1d655b72a30c NM_020918.4 -1 validated p.Q116* 1.000 65 0% 87 11.5% - - - - - NULL GAS2 2620 genome.wustl.edu 37 11 22707273 22707273 + Missense_Mutation SNP C C G novel TCGA-FI-A2F8-01A-12D-A17D-09 TCGA-FI-A2F8-10B-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5eea6de-5e8e-41ca-930f-e7e48c855c36 6b354f12-59dd-455e-b313-1d655b72a30c NM_001143830.1 +1 reviewed p.Q69E 1.000 61 0% 64 15.6% - - benign(0.018) deleterious(0.02) neutral(0.384) HMMPfam_CH,HMMSmart_SM00033,superfamily_Calponin-homology domain CH-domain RAG1 5896 genome.wustl.edu 37 11 36597771 36597771 + Missense_Mutation SNP C C T novel TCGA-FI-A2F8-01A-12D-A17D-09 TCGA-FI-A2F8-10B-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5eea6de-5e8e-41ca-930f-e7e48c855c36 6b354f12-59dd-455e-b313-1d655b72a30c NM_000448.2 +1 reviewed p.R973C 1.000 46 0% 47 31.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL SPTBN2 6712 genome.wustl.edu 37 11 66453509 66453509 + Missense_Mutation SNP C C T novel TCGA-FI-A2F8-01A-12D-A17D-09 TCGA-FI-A2F8-10B-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5eea6de-5e8e-41ca-930f-e7e48c855c36 6b354f12-59dd-455e-b313-1d655b72a30c NM_006946.2 -1 reviewed p.E2336K 1.000 9 0.000 10 0.800 - - benign(0.097) tolerated(0.9) neutral(0.007) NULL C2CD3 26005 genome.wustl.edu 37 11 73748713 73748713 + Silent SNP C C T novel TCGA-FI-A2F8-01A-12D-A17D-09 TCGA-FI-A2F8-10B-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5eea6de-5e8e-41ca-930f-e7e48c855c36 6b354f12-59dd-455e-b313-1d655b72a30c NM_015531.4 -1 validated p.Q1897 0.780 41 0% 63 14.3% - - - - - NULL AASDHPPT 60496 genome.wustl.edu 37 11 105961379 105961379 + Missense_Mutation SNP C C G novel TCGA-FI-A2F8-01A-12D-A17D-09 TCGA-FI-A2F8-10B-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5eea6de-5e8e-41ca-930f-e7e48c855c36 6b354f12-59dd-455e-b313-1d655b72a30c NM_015423.2 +1 reviewed p.Q169E 1.000 91 0% 91 34.1% - - probably_damaging(0.996) deleterious(0.02) deleterious(0.845) HMMPfam_ACPS,superfamily_4-PPT_transf OR10G9 219870 genome.wustl.edu 37 11 123894588 123894588 + Missense_Mutation SNP G G T novel TCGA-FI-A2F8-01A-12D-A17D-09 TCGA-FI-A2F8-10B-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5eea6de-5e8e-41ca-930f-e7e48c855c36 6b354f12-59dd-455e-b313-1d655b72a30c NM_001001953.1 +1 provisional p.R290I 1.000 71 0% 108 25% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF81321 C1S 716 genome.wustl.edu 37 12 7177397 7177397 + Silent SNP C C G novel TCGA-FI-A2F8-01A-12D-A17D-09 TCGA-FI-A2F8-10B-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5eea6de-5e8e-41ca-930f-e7e48c855c36 6b354f12-59dd-455e-b313-1d655b72a30c NM_001734.3 +1 reviewed p.L503 0.013 28 0% 30 20% - - - - - HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys ABCC9 10060 genome.wustl.edu 37 12 21997468 21997468 + Silent SNP G G A novel TCGA-FI-A2F8-01A-12D-A17D-09 TCGA-FI-A2F8-10B-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5eea6de-5e8e-41ca-930f-e7e48c855c36 6b354f12-59dd-455e-b313-1d655b72a30c NM_005691.2 -1 reviewed p.P1088 0.911 40 0% 39 23.1% - - - - - HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain STAC3 246329 genome.wustl.edu 37 12 57642907 57642907 + Missense_Mutation SNP A A G novel TCGA-FI-A2F8-01A-12D-A17D-09 TCGA-FI-A2F8-10B-01D-A17D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5eea6de-5e8e-41ca-930f-e7e48c855c36 6b354f12-59dd-455e-b313-1d655b72a30c NM_145064.1 -1 provisional p.L84P 0.986 39 0% 53 34% - - benign(0) tolerated(0.1) neutral(0.286) superfamily_Cysteine-rich domain ZFC3H1 196441 genome.wustl.edu 37 12 72028005 72028005 + Missense_Mutation SNP C C G novel TCGA-FI-A2F8-01A-12D-A17D-09 TCGA-FI-A2F8-10B-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5eea6de-5e8e-41ca-930f-e7e48c855c36 6b354f12-59dd-455e-b313-1d655b72a30c NM_144982.4 -1 validated p.D814H 1.000 107 0% 261 39.5% - - probably_damaging(0.962) deleterious(0.01) deleterious(0.810) NULL LOC643677 643677 genome.wustl.edu 37 13 103385317 103385317 + Missense_Mutation SNP C C A novel TCGA-FI-A2F8-01A-12D-A17D-09 TCGA-FI-A2F8-10B-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5eea6de-5e8e-41ca-930f-e7e48c855c36 6b354f12-59dd-455e-b313-1d655b72a30c XM_002344085.1 -1 model p.E5758D 0.000 66 0% 63 17.5% - - unknown(0) - - NULL LOC643677 643677 genome.wustl.edu 37 13 103402017 103402017 + Missense_Mutation SNP C C T novel TCGA-FI-A2F8-01A-12D-A17D-09 TCGA-FI-A2F8-10B-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5eea6de-5e8e-41ca-930f-e7e48c855c36 6b354f12-59dd-455e-b313-1d655b72a30c XM_002344085.1 -1 model p.E273K 0.015 46 0% 46 30.4% - - - - - NULL EAPP 55837 genome.wustl.edu 37 14 34993960 34993960 + Missense_Mutation SNP C C G novel TCGA-FI-A2F8-01A-12D-A17D-09 TCGA-FI-A2F8-10B-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5eea6de-5e8e-41ca-930f-e7e48c855c36 6b354f12-59dd-455e-b313-1d655b72a30c NM_018453.3 -1 reviewed p.S175T 1.000 64 0% 60 46.7% - - probably_damaging(1) tolerated(0.14) deleterious(0.750) HMMPfam_Eapp_C RYR3 6263 genome.wustl.edu 37 15 33916136 33916136 + Missense_Mutation SNP G G A novel TCGA-FI-A2F8-01A-12D-A17D-09 TCGA-FI-A2F8-10B-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5eea6de-5e8e-41ca-930f-e7e48c855c36 6b354f12-59dd-455e-b313-1d655b72a30c NM_001036.3 +1 validated p.R829H 1.000 44 0% 46 21.7% - - benign(0.192) - - NULL SNX29 92017 genome.wustl.edu 37 16 12121198 12121198 + Missense_Mutation SNP G G C novel TCGA-FI-A2F8-01A-12D-A17D-09 TCGA-FI-A2F8-10B-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5eea6de-5e8e-41ca-930f-e7e48c855c36 6b354f12-59dd-455e-b313-1d655b72a30c NM_032167.2 +1 validated p.Q48H 1.000 51 0% 39 17.9% - - probably_damaging(0.996) tolerated(0.12) deleterious(0.722) HMMPfam_RUN PRKCB 5579 genome.wustl.edu 37 16 24183642 24183642 + Missense_Mutation SNP C C T novel TCGA-FI-A2F8-01A-12D-A17D-09 TCGA-FI-A2F8-10B-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5eea6de-5e8e-41ca-930f-e7e48c855c36 6b354f12-59dd-455e-b313-1d655b72a30c NM_002738.6 +1 reviewed p.H431Y 1.000 63 0% 72 25% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase LPCAT2 54947 genome.wustl.edu 37 16 55559537 55559537 + Missense_Mutation SNP C C T novel TCGA-FI-A2F8-01A-12D-A17D-09 TCGA-FI-A2F8-10B-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5eea6de-5e8e-41ca-930f-e7e48c855c36 6b354f12-59dd-455e-b313-1d655b72a30c NM_017839.4 +1 reviewed p.H97Y 0.303 69 0% 77 24.7% - - benign(0.087) deleterious(0.04) neutral(0.355) superfamily_Glycerol-3-phosphate (1)-acyltransferase TP53 7157 genome.wustl.edu 37 17 7577559 7577559 + Missense_Mutation SNP G G A novel TCGA-FI-A2F8-01A-12D-A17D-09 TCGA-FI-A2F8-10B-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5eea6de-5e8e-41ca-930f-e7e48c855c36 6b354f12-59dd-455e-b313-1d655b72a30c NM_000546.4 -1 reviewed p.S241F 1.000 51 0% 45 55.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53 COX10 1352 genome.wustl.edu 37 17 13980228 13980228 + Missense_Mutation SNP G G C novel TCGA-FI-A2F8-01A-12D-A17D-09 TCGA-FI-A2F8-10B-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5eea6de-5e8e-41ca-930f-e7e48c855c36 6b354f12-59dd-455e-b313-1d655b72a30c NM_001303.3 +1 reviewed p.L118F 0.000 68 0% 40 22.5% - - possibly_damaging(0.791) tolerated(0.18) neutral(0.352) NULL PGAP3 93210 genome.wustl.edu 37 17 37840943 37840943 + Silent SNP G G A novel TCGA-FI-A2F8-01A-12D-A17D-09 TCGA-FI-A2F8-10B-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5eea6de-5e8e-41ca-930f-e7e48c855c36 6b354f12-59dd-455e-b313-1d655b72a30c NM_033419.3 -1 validated p.L113 0.999 20 0% 120 92.5% - - - - - HMMPfam_Per1 SMURF2 64750 genome.wustl.edu 37 17 62547721 62547721 + Missense_Mutation SNP A A G novel TCGA-FI-A2F8-01A-12D-A17D-09 TCGA-FI-A2F8-10B-01D-A17D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5eea6de-5e8e-41ca-930f-e7e48c855c36 6b354f12-59dd-455e-b313-1d655b72a30c NM_022739.3 -1 validated p.F617S 1.000 49 0% 66 24.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HECT,HMMSmart_HECTc,superfamily_HECT C18orf34 374864 genome.wustl.edu 37 18 30825253 30825253 + Missense_Mutation SNP C C G novel TCGA-FI-A2F8-01A-12D-A17D-09 TCGA-FI-A2F8-10B-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5eea6de-5e8e-41ca-930f-e7e48c855c36 6b354f12-59dd-455e-b313-1d655b72a30c NM_001105528.1 -1 validated p.D517H 0.110 133 0% 161 20.5% - - possibly_damaging(0.926) deleterious(0.01) deleterious(0.780) NULL ASXL3 80816 genome.wustl.edu 37 18 31324893 31324893 + Missense_Mutation SNP C C T novel TCGA-FI-A2F8-01A-12D-A17D-09 TCGA-FI-A2F8-10B-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5eea6de-5e8e-41ca-930f-e7e48c855c36 6b354f12-59dd-455e-b313-1d655b72a30c NM_030632.1 +1 provisional p.P1694L 0.046 36 0% 33 72.7% - - benign(0.395) deleterious(0) deleterious(0.572) NULL CDH19 28513 genome.wustl.edu 37 18 64239332 64239332 + Missense_Mutation SNP G G A novel TCGA-FI-A2F8-01A-12D-A17D-09 TCGA-FI-A2F8-10B-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5eea6de-5e8e-41ca-930f-e7e48c855c36 6b354f12-59dd-455e-b313-1d655b72a30c NM_021153.2 -1 reviewed p.S37F 0.006 96 0% 81 13.6% - - benign(0) deleterious(0.01) neutral(0.406) NULL PDE4A 5141 genome.wustl.edu 37 19 10577915 10577915 + Missense_Mutation SNP C C T novel TCGA-FI-A2F8-01A-12D-A17D-09 TCGA-FI-A2F8-10B-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5eea6de-5e8e-41ca-930f-e7e48c855c36 6b354f12-59dd-455e-b313-1d655b72a30c NM_001111307.1 +1 validated p.S760L 0.000 44 0% 51 15.7% - - benign(0) tolerated(0.07) neutral(0.319) NULL JAK3 3718 genome.wustl.edu 37 19 17941385 17941385 + Nonsense_Mutation SNP G G C novel TCGA-FI-A2F8-01A-12D-A17D-09 TCGA-FI-A2F8-10B-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5eea6de-5e8e-41ca-930f-e7e48c855c36 6b354f12-59dd-455e-b313-1d655b72a30c NM_000215.3 -1 reviewed p.S1008* 0.984 19 0% 42 16.7% - - - - - HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) FOXA2 3170 genome.wustl.edu 37 20 22563211 22563211 + Missense_Mutation SNP G G T novel TCGA-FI-A2F8-01A-12D-A17D-09 TCGA-FI-A2F8-10B-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5eea6de-5e8e-41ca-930f-e7e48c855c36 6b354f12-59dd-455e-b313-1d655b72a30c NM_021784.4 -1 reviewed p.F223L 1.000 31 0% 29 51.7% - - probably_damaging(0.993) deleterious(0) deleterious(0.895) HMMPfam_Fork_head,HMMSmart_FH,superfamily_SSF46785 FOXA2 3170 genome.wustl.edu 37 20 22563212 22563212 + Missense_Mutation SNP A A T novel TCGA-FI-A2F8-01A-12D-A17D-09 TCGA-FI-A2F8-10B-01D-A17D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5eea6de-5e8e-41ca-930f-e7e48c855c36 6b354f12-59dd-455e-b313-1d655b72a30c NM_021784.4 -1 reviewed p.F223Y 1.000 32 0% 28 53.6% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Fork_head,HMMSmart_FH,superfamily_SSF46785 RBPJL 11317 genome.wustl.edu 37 20 43940952 43940952 + Frame_Shift_Del DEL G G - novel TCGA-FI-A2F8-01A-12D-A17D-09 TCGA-FI-A2F8-10B-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5eea6de-5e8e-41ca-930f-e7e48c855c36 6b354f12-59dd-455e-b313-1d655b72a30c NM_014276.2 +1 reviewed p.E180fs 1.000 - - - - - - - - - superfamily_P53_like_DNA_bnd,HMMPfam_LAG1-DNAbind CTSZ 1522 genome.wustl.edu 37 20 57571799 57571799 + Silent SNP T T C novel TCGA-FI-A2F8-01A-12D-A17D-09 TCGA-FI-A2F8-10B-01D-A17D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5eea6de-5e8e-41ca-930f-e7e48c855c36 6b354f12-59dd-455e-b313-1d655b72a30c NM_001336.3 -1 reviewed p.E232 0.851 45 0% 33 21.2% - - - - - HMMPfam_Peptidase_C1,HMMSmart_SM00645,superfamily_Cysteine proteinases DIP2A 23181 genome.wustl.edu 37 21 47974506 47974506 + Missense_Mutation SNP C C T novel TCGA-FI-A2F8-01A-12D-A17D-09 TCGA-FI-A2F8-10B-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5eea6de-5e8e-41ca-930f-e7e48c855c36 6b354f12-59dd-455e-b313-1d655b72a30c NM_015151.3 +1 reviewed p.A1058V 0.981 41 0% 39 51.3% - - possibly_damaging(0.818) deleterious(0) deleterious(0.754) HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like CLTCL1 8218 genome.wustl.edu 37 22 19213795 19213795 + Missense_Mutation SNP C C T novel TCGA-FI-A2F8-01A-12D-A17D-09 TCGA-FI-A2F8-10B-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5eea6de-5e8e-41ca-930f-e7e48c855c36 6b354f12-59dd-455e-b313-1d655b72a30c NM_007098.3 -1 reviewed p.D632N 1.000 67 0% 110 12.7% - - probably_damaging(1) tolerated(0.15) deleterious(0.741) HMMPfam_Clathrin,HMMSmart_SM00299,superfamily_ARM repeat ZDHHC8 29801 genome.wustl.edu 37 22 20130885 20130885 + Missense_Mutation SNP G G A rs145467798 by1000genomes TCGA-FI-A2F8-01A-12D-A17D-09 TCGA-FI-A2F8-10B-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5eea6de-5e8e-41ca-930f-e7e48c855c36 6b354f12-59dd-455e-b313-1d655b72a30c NM_013373.3 +1 reviewed p.V578I 0.997 10 0% 23 26.1% - - possibly_damaging(0.865) tolerated(0.42) neutral(0.349) NULL TTC28 23331 genome.wustl.edu 37 22 28378362 28378362 + Silent SNP G G A novel TCGA-FI-A2F8-01A-12D-A17D-09 TCGA-FI-A2F8-10B-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5eea6de-5e8e-41ca-930f-e7e48c855c36 6b354f12-59dd-455e-b313-1d655b72a30c NM_001145418.1 -1 validated p.N2431 0.958 29 3.4% 54 18.5% - - - - - NULL EFNB1 1947 genome.wustl.edu 37 X 68060356 68060356 + Silent SNP C C T novel TCGA-FI-A2F8-01A-12D-A17D-09 TCGA-FI-A2F8-10B-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5eea6de-5e8e-41ca-930f-e7e48c855c36 6b354f12-59dd-455e-b313-1d655b72a30c NM_004429.4 +1 reviewed p.S300 0.983 28 0% 23 21.7% - - - - - NULL ODZ1 10178 genome.wustl.edu 37 X 123554349 123554349 + Silent SNP A A C novel TCGA-FI-A2F8-01A-12D-A17D-09 TCGA-FI-A2F8-10B-01D-A17D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5eea6de-5e8e-41ca-930f-e7e48c855c36 6b354f12-59dd-455e-b313-1d655b72a30c NM_014253.3 -1 reviewed p.R1591 0.728 49 0% 43 14% - - - - - HMMPfam_RHS_repeat,superfamily_N2O_reductase_N ZNF280C 55609 genome.wustl.edu 37 X 129370209 129370209 + Missense_Mutation SNP A A T novel TCGA-FI-A2F8-01A-12D-A17D-09 TCGA-FI-A2F8-10B-01D-A17D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5eea6de-5e8e-41ca-930f-e7e48c855c36 6b354f12-59dd-455e-b313-1d655b72a30c NM_017666.4 -1 validated p.D250E 1.000 44 0% 62 12.9% - - benign(0.018) tolerated(0.9) neutral(0.001) HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ATP11C 286410 genome.wustl.edu 37 X 138820120 138820120 + Missense_Mutation SNP C C G novel TCGA-FI-A2F8-01A-12D-A17D-09 TCGA-FI-A2F8-10B-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5eea6de-5e8e-41ca-930f-e7e48c855c36 6b354f12-59dd-455e-b313-1d655b72a30c NM_173694.4 -1 validated p.E1084D 1.000 46 0% 39 12.8% - - benign(0.038) tolerated(1) neutral(0.002) NULL ATP11C 286410 genome.wustl.edu 37 X 138884420 138884420 + Missense_Mutation SNP C C T novel TCGA-FI-A2F8-01A-12D-A17D-09 TCGA-FI-A2F8-10B-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5eea6de-5e8e-41ca-930f-e7e48c855c36 6b354f12-59dd-455e-b313-1d655b72a30c NM_173694.4 -1 validated p.E215K 1.000 132 0% 143 14% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_Calcium ATPase transduction domain A MAMLD1 10046 genome.wustl.edu 37 X 149639325 149639327 + In_Frame_Del DEL CAG CAG - novel TCGA-FI-A2F8-01A-12D-A17D-09 TCGA-FI-A2F8-10B-01D-A17D-09 CAG CAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5eea6de-5e8e-41ca-930f-e7e48c855c36 6b354f12-59dd-455e-b313-1d655b72a30c NM_005491.3 +1 reviewed p.Q497in_frame_del 0.006:0.000:0.000 - - - - - - - - - NULL