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 SLC9A1 6548 genome.wustl.edu 37 1 27427750 27427750 + Missense_Mutation SNP G G A novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_003047.3 -1 validated p.T685M 1.000 35 2.9% 30 53.3% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL THRAP3 9967 genome.wustl.edu 37 1 36759510 36759510 + Missense_Mutation SNP A A G novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_005119.3 +1 validated p.K697E 1.000 68 0% 98 67.3% - - probably_damaging(0.962) tolerated(0.24) neutral(0.443) NULL LRRC41 10489 genome.wustl.edu 37 1 46745931 46745931 + Missense_Mutation SNP G G T novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_006369.4 -1 validated p.F651L 1.000 41 0% 79 26.6% - - benign(0.195) deleterious(0) neutral(0.463) superfamily_RNI-like LOC100288209 100288209 genome.wustl.edu 37 1 55331027 55331027 + Missense_Mutation SNP G G C novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f XM_002342084.1 +1 model p.G236R 0.881 112 0% 118 25.4% - - - - - NULL COL11A1 1301 genome.wustl.edu 37 1 103345292 103345292 + Missense_Mutation SNP C C T novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_080629.2 -1 reviewed p.E1753K 1.000 84 0% 90 25.6% - - unknown(0) deleterious(0) - HMMPfam_COLFI,HMMSmart_COLFI COL11A1 1301 genome.wustl.edu 37 1 103488498 103488498 + Missense_Mutation SNP C C T novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_080629.2 -1 reviewed p.D361N 1.000 86 0% 76 22.4% - - unknown(0) tolerated(0.55) - NULL TRIM46 80128 genome.wustl.edu 37 1 155152380 155152380 + Missense_Mutation SNP G G C novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_025058.3 +1 validated p.D520H 0.998 12 0% 34 20.6% - - possibly_damaging(0.803) deleterious(0.04) deleterious(0.651) superfamily_Fibronectin type III KIRREL 55243 genome.wustl.edu 37 1 158058237 158058237 + Nonsense_Mutation SNP C C G novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_018240.5 +1 validated p.S346* 1.000 45 0% 51 17.6% - - - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin METTL11B 149281 genome.wustl.edu 37 1 170136781 170136781 + Silent SNP C C G novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_001136107.1 +1 validated p.L245 0.510 30 0% 44 22.7% - - - - - HMMPfam_DUF858,superfamily_SSF53335 KIAA1614 57710 genome.wustl.edu 37 1 180904388 180904388 + Missense_Mutation SNP C C T novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_020950.1 +1 validated p.S448L 0.966 5 0.000 10 0.700 - - possibly_damaging(0.946) deleterious(0.01) deleterious(0.796) NULL EDEM3 80267 genome.wustl.edu 37 1 184677468 184677468 + Nonsense_Mutation SNP G G C novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_025191.3 -1 validated p.S619* 1.000 44 2.3% 45 22.2% - - - - - NULL F13B 2165 genome.wustl.edu 37 1 197026245 197026245 + Missense_Mutation SNP C C T novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_001994.2 -1 reviewed p.G357R 0.993 62 0% 100 10% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Sushi,HMMSmart_CCP,superfamily_Complement_control_module IPO9 55705 genome.wustl.edu 37 1 201835979 201835979 + Missense_Mutation SNP G G A novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_018085.4 +1 validated p.V583M 1.000 78 0% 61 37.7% - - probably_damaging(0.968) deleterious(0.02) deleterious(0.793) superfamily_ARM repeat COLEC11 78989 genome.wustl.edu 37 2 3660907 3660907 + Missense_Mutation SNP C C T novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_024027.3 +1 validated p.A46V 0.909 28 0% 45 44.4% - - benign(0.022) tolerated(0.3) neutral(0.030) NULL NRXN1 9378 genome.wustl.edu 37 2 50280437 50280437 + Missense_Mutation SNP T T A novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_001135659.1 -1 reviewed p.K1407M 1.000 75 0% 97 18.6% - - benign(0.355) deleterious(0) deleterious(0.557) NULL C2orf81 388963 genome.wustl.edu 37 2 74642401 74642401 + Missense_Mutation SNP T T A novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_001145054.1 -1 predicted p.E274D 0.003 11 0% 30 40% - - probably_damaging(0.998) tolerated(0.06) deleterious(0.797) NULL POLE4 56655 genome.wustl.edu 37 2 75187231 75187231 + Splice_Site SNP G G T novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_019896.2 +1 validated e3-1 1.000 146 0% 181 42.5% - - - - - - BCL2L11 10018 genome.wustl.edu 37 2 111921771 111921772 + Frame_Shift_Ins INS - - A novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_138621.3 +1 reviewed p.R188fs 0.997:0.928 - - - - - - - - - NULL ZC3H6 376940 genome.wustl.edu 37 2 113089767 113089767 + Missense_Mutation SNP G G C novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_198581.2 +1 validated p.G1091A 0.871 31 0% 52 15.4% - - benign(0.183) tolerated(0.31) neutral(0.044) NULL PDE1A 5136 genome.wustl.edu 37 2 183011836 183011836 + Silent SNP A A T novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_005019.3 -1 validated p.A536 0.781 188 0% 201 21.9% - - - - - NULL DNAH7 56171 genome.wustl.edu 37 2 196737178 196737178 + Missense_Mutation SNP A A C novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_018897.2 -1 validated p.D2143E 0.007 37 0% 61 16.4% - - benign(0) tolerated(0.98) - superfamily_P-loop containing nucleoside triphosphate hydrolases ENSG00000247626 0 genome.wustl.edu 37 2 198572076 198572077 + RNA INS - - TTC rs34688524 byCluster;by1000genomes TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f ENST00000499940 -1 novel NULL 0.000:0.000 - - - - - - - - - - PDCD1 5133 genome.wustl.edu 37 2 242795082 242795082 + Missense_Mutation SNP C C T novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_005018.2 -1 reviewed p.V43M 0.000 43 0% 50 54% - - benign(0.006) tolerated(0.1) neutral(0.286) HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin SATB1 6304 genome.wustl.edu 37 3 18393678 18393678 + Missense_Mutation SNP A A C novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_001131010.1 -1 validated p.C529G 1.000 37 0% 21 19% - - probably_damaging(0.958) deleterious(0) deleterious(0.846) HMMPfam_CUT SCN10A 6336 genome.wustl.edu 37 3 38833561 38833561 + Silent SNP G G T novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_006514.2 -1 validated p.A123 1.000 45 0% 48 10.4% - - - - - superfamily_SSF81324 CADPS 8618 genome.wustl.edu 37 3 62503879 62503879 + Missense_Mutation SNP C C G novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_003716.3 -1 reviewed p.E780Q 1.000 101 0% 74 20.3% - - probably_damaging(0.996) tolerated(0.69) neutral(0.464) NULL A4GNT 51146 genome.wustl.edu 37 3 137843367 137843367 + Silent SNP G G A novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_016161.2 -1 reviewed p.F254 0.962 45 0% 70 25.7% - - - - - HMMPfam_Gb3_synth A4GNT 51146 genome.wustl.edu 37 3 137843368 137843368 + Missense_Mutation SNP A A T novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_016161.2 -1 reviewed p.F254Y 1.000 47 0% 71 22.5% - - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_Gb3_synth SLC25A36 55186 genome.wustl.edu 37 3 140695226 140695226 + Silent SNP G G C novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_001104647.1 +1 validated p.V289 1.000 84 0% 161 11.2% - - - - - superfamily_Mitochondrial carrier,HMMPfam_Mito_carr SHOX2 6474 genome.wustl.edu 37 3 157815966 157815966 + Silent SNP G G A novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_006884.3 -1 reviewed p.F282 1.000 31 0% 87 19.5% - - probably_damaging(0.999) tolerated(0.19) deleterious(0.540) NULL SLITRK3 22865 genome.wustl.edu 37 3 164906858 164906858 + Silent SNP A A G novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_014926.2 -1 validated p.G587 0.020 45 0% 73 16.4% - - - - - HMMSmart_LRRCT,superfamily_SSF52058 SERPINI1 5274 genome.wustl.edu 37 3 167507134 167507134 + Missense_Mutation SNP G G A novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_001122752.1 +1 reviewed p.R73H 1.000 58 0% 74 35.1% - - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Serpin,HMMSmart_SM00093,superfamily_Serpins PIK3CA 5290 genome.wustl.edu 37 3 178952030 178952030 + Missense_Mutation SNP G G C novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_006218.2 +1 reviewed p.D1029H 1.000 38 0% 102 20.6% - - benign(0.199) tolerated(0.07) neutral(0.338) HMMSmart_PI3Kc,superfamily_Kinase_like LOC100287782 100287782 genome.wustl.edu 37 4 99877753 99877755 + In_Frame_Del DEL AAA AAA - novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 AAA AAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f XM_002342458.1 +1 model p.K79in_frame_del 0.064:0.068:0.071 - - - - - - - - - NULL TET2 54790 genome.wustl.edu 37 4 106157436 106157436 + Silent SNP T T C novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_001127208.1 +1 validated p.T779 0.164 34 0% 22 50% - - - - - NULL SLC6A3 6531 genome.wustl.edu 37 5 1411433 1411433 + Silent SNP G G T novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_001044.4 -1 reviewed p.I398 0.918 20 0% 19 52.6% - - - - - HMMPfam_SNF PIK3R1 5295 genome.wustl.edu 37 5 67589168 67589168 + Nonsense_Mutation SNP C C T novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_181523.1 +1 reviewed p.R386* 1.000 49 0% 92 64.1% - - - - - HMMPfam_SH2,HMMSmart_SM00252,superfamily_SH2 domain CHD1 1105 genome.wustl.edu 37 5 98204273 98204273 + Missense_Mutation SNP G G A novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_001270.2 -1 reviewed p.H1392Y 1.000 109 0% 98 33.7% - - benign(0.068) deleterious(0.01) neutral(0.410) NULL PRPF4B 8899 genome.wustl.edu 37 6 4049306 4049306 + Silent SNP C C G novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_003913.4 +1 reviewed p.L664 1.000 60 0% 96 28.1% - - - - - NULL ELOVL2 54898 genome.wustl.edu 37 6 10989938 10989938 + Missense_Mutation SNP G G C novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_017770.3 -1 validated p.Q255E 1.000 38 0% 43 18.6% - - possibly_damaging(0.568) deleterious(0.01) deleterious(0.600) HMMPfam_ELO MAS1L 116511 genome.wustl.edu 37 6 29454784 29454784 + Missense_Mutation SNP A A C novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_052967.1 -1 provisional p.I299S 0.000 23 0% 40 52.5% - - benign(0.019) tolerated(0.76) neutral(0.002) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ITPR3 3710 genome.wustl.edu 37 6 33660630 33660630 + Silent SNP G G A novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_002224.2 +1 validated p.Q2528 1.000 76 0% 125 20% - - - - - NULL EYS 346007 genome.wustl.edu 37 6 65300140 65300140 + Missense_Mutation SNP C C A novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_001142800.1 -1 reviewed p.A1874S 0.000 47 0% 83 20.5% - - possibly_damaging(0.753) - - superfamily_Concanavalin A-like lectins/glucanases NDUFAF4 29078 genome.wustl.edu 37 6 97339248 97339248 + Missense_Mutation SNP C C T novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_014165.3 -1 reviewed p.C87Y 0.000 46 0% 74 35.1% - - benign(0.03) tolerated(0.17) neutral(0.060) HMMPfam_UPF0240 MCHR2 84539 genome.wustl.edu 37 6 100368978 100368978 + Silent SNP A A G novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_001040179.1 -1 validated p.G287 0.918 79 0% 127 13.4% - - - - - HMMPfam_7tm_1,superfamily_SSF81321 CEP57L1 285753 genome.wustl.edu 37 6 109475077 109475077 + Silent SNP G G A novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_001083535.1 +1 validated p.L168 0.571 35 0% 56 25% - - - - - HMMPfam_DUF1167 CEP57L1 285753 genome.wustl.edu 37 6 109481786 109481786 + Missense_Mutation SNP A A T novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_001083535.1 +1 validated p.E343V 1.000 22 0% 45 26.7% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_DUF1167 MICAL1 64780 genome.wustl.edu 37 6 109770546 109770546 + Missense_Mutation SNP T T A novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f ENST00000368957 -1 known p.Q10L 0.000 54 0% 91 11% - - unknown(0) deleterious(0.02) - NULL AIG1 51390 genome.wustl.edu 37 6 143382168 143382168 + Nonsense_Mutation SNP G G T novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_016108.2 +1 validated p.G36* 1.000 33 0% 33 12.1% - - - - - HMMPfam_Far-17a_AIG1 C6orf97 80129 genome.wustl.edu 37 6 151869514 151869514 + Missense_Mutation SNP G G C novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_025059.3 +1 validated p.E222Q 1.000 38 0% 60 13.3% - - probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL FAM120B 84498 genome.wustl.edu 37 6 170657283 170657283 + Missense_Mutation SNP G G C novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_032448.1 +1 provisional p.E688Q 0.135 37 0% 53 18.9% - - benign(0.139) tolerated(0.16) neutral(0.071) NULL ABCA13 154664 genome.wustl.edu 37 7 48312404 48312404 + Silent SNP C C T novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_152701.3 +1 reviewed p.F1047 0.002 49 0% 27 29.6% - - - - - NULL SUMF2 25870 genome.wustl.edu 37 7 56142373 56142373 + Missense_Mutation SNP G G T novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_001130069.1 +1 reviewed p.G179V 1.000 27 0% 30 23.3% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_DUF323,superfamily_C-type lectin-like ABCB1 5243 genome.wustl.edu 37 7 87175214 87175214 + Missense_Mutation SNP C C G novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_000927.3 -1 reviewed p.E618Q 0.047 44 0% 85 24.7% - - benign(0) tolerated(0.29) neutral(0.029) superfamily_P-loop containing nucleoside triphosphate hydrolases MUC17 140453 genome.wustl.edu 37 7 100693797 100693797 + Missense_Mutation SNP T T G novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_001040105.1 +1 provisional p.L4252R 0.160 85 0% 155 48.4% - - unknown(0) - - HMMPfam_SEA,HMMSmart_SM00200,superfamily_SEA domain CFTR 1080 genome.wustl.edu 37 7 117251833 117251833 + Missense_Mutation SNP C C T novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_000492.3 +1 reviewed p.A1113V 0.997 65 1.5% 43 32.6% - - benign(0) tolerated(1) - HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain MKRN1 23608 genome.wustl.edu 37 7 140171699 140171699 + Frame_Shift_Del DEL A A - novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_013446.3 -1 validated p.Y100fs 1.000 - - - - - - - - - HMMPfam_zf-CCCH,HMMSmart_SM00356,superfamily_CCCH zinc finger MGAM 8972 genome.wustl.edu 37 7 141786519 141786520 + Splice_Site INS - - A novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f ENST00000475668 +1 known e56+2 1.000:0.986 - - - - - - - - - - MYOM2 9172 genome.wustl.edu 37 8 2071148 2071148 + Silent SNP C C T novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_003970.2 +1 validated p.T1159 0.002 43 0% 35 25.7% - - - - - HMMPfam_ig,superfamily_SSF48726 ENSG00000215179 0 genome.wustl.edu 37 8 47885929 47885929 + Missense_Mutation SNP C C A novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f ENST00000399732 -1 known p.A102S 1.000 30 0% 37 18.9% - - - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase CNBD1 168975 genome.wustl.edu 37 8 88296921 88296921 + Missense_Mutation SNP A A T novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_173538.2 +1 provisional p.T263S 0.685 53 0% 73 21.9% - - probably_damaging(0.991) tolerated(0.49) neutral(0.455) superfamily_cNMP_binding CSMD3 114788 genome.wustl.edu 37 8 113308194 113308194 + Missense_Mutation SNP C C A novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_198123.1 -1 validated p.V2828F 1.000 56 1.8% 58 48.3% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain ENSG00000247396 0 genome.wustl.edu 37 8 143744423 143744426 + RNA DEL AGGT AGGT - rs67286341 byCluster;by1000genomes TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 AGGT AGGT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f ENST00000501891 +1 known NULL 0.002:0.001:0.000:0.000 - - - - - - - - - - RANBP6 26953 genome.wustl.edu 37 9 6015454 6015454 + Missense_Mutation SNP A A G novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_012416.2 -1 validated p.F52L 0.999 35 0% 55 43.6% - - benign(0) tolerated(1) - superfamily_ARM-type_fold NCBP1 4686 genome.wustl.edu 37 9 100405549 100405549 + Missense_Mutation SNP G G T novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_002486.4 +1 reviewed p.R96S 0.996 89 0% 68 50% - - benign(0.213) deleterious(0) neutral(0.466) HMMPfam_MIF4G,HMMSmart_MIF4G,superfamily_ARM-type_fold GATA3 2625 genome.wustl.edu 37 10 8100514 8100514 + Missense_Mutation SNP C C T novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_001002295.1 +1 reviewed p.P163L 1.000 9 0.000 13 0.308 - - probably_damaging(0.984) deleterious(0) deleterious(0.875) NULL MYO3A 53904 genome.wustl.edu 37 10 26443722 26443722 + Missense_Mutation SNP G G A novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_017433.4 +1 reviewed p.M921I 1.000 62 0% 85 21.2% - - benign(0.114) tolerated(0.16) neutral(0.068) HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 USP54 159195 genome.wustl.edu 37 10 75299314 75299314 + Missense_Mutation SNP G G C novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_152586.3 -1 provisional p.S288C 1.000 60 0% 65 35.4% - - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) superfamily_Cysteine proteinases KCNMA1 3778 genome.wustl.edu 37 10 78709029 78709029 + Silent SNP C C A novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f ENST00000372403 -1 known p.W753L 1.000 41 0% 39 48.7% - - - - - NULL FAM190B 54462 genome.wustl.edu 37 10 86185535 86185535 + Missense_Mutation SNP G G C novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_018999.2 +1 validated p.R585P 0.993 83 0% 57 15.8% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL C10orf28 27291 genome.wustl.edu 37 10 99968654 99968654 + Silent SNP C C T novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_014472.4 +1 validated p.S261 0.003 57 0% 72 19.4% - - - - - NULL API5 8539 genome.wustl.edu 37 11 43357459 43357459 + Silent SNP T T A novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_001142930.1 +1 validated p.S469 0.784 71 0% 90 32.2% - - - - - HMMPfam_API5,superfamily_ARM-type_fold OR5D18 219438 genome.wustl.edu 37 11 55587273 55587273 + Silent SNP G G T novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_001001952.1 +1 provisional p.L56 0.275 126 0% 152 22.4% - - - - - HMMPfam_7tm_1,superfamily_SSF81321 NRXN2 9379 genome.wustl.edu 37 11 64428459 64428459 + Missense_Mutation SNP G G A novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_015080.2 -1 reviewed p.R651W 0.320 12 0% 21 28.6% - - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 ARHGEF17 9828 genome.wustl.edu 37 11 73020375 73020376 + In_Frame_Ins INS - - CTC rs79815384 TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_014786.3 +1 validated p.235in_frame_insS 0.998:1.000 - - - - - - - - - NULL PGM2L1 283209 genome.wustl.edu 37 11 74058192 74058192 + Splice_Site SNP C C A novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_173582.3 -1 validated e7+1 1.000 44 2.3% 65 30.8% - - - - - - PICALM 8301 genome.wustl.edu 37 11 85701336 85701336 + Silent SNP T T C novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_007166.2 -1 validated p.V455 1.000 72 0% 67 22.4% - - - - - NULL RNF214 257160 genome.wustl.edu 37 11 117153160 117153160 + Missense_Mutation SNP C C G novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_001077239.1 +1 validated p.R585G 1.000 89 0% 103 30.1% - - probably_damaging(1) tolerated(0.17) deleterious(0.559) NULL ABCG4 64137 genome.wustl.edu 37 11 119027126 119027126 + Missense_Mutation SNP C C G novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_001142505.1 +1 reviewed p.H258Q 1.000 25 0% 45 24.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases BSX 390259 genome.wustl.edu 37 11 122852120 122852120 + Nonsense_Mutation SNP G G T novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_001098169.1 -1 validated p.S87* 1.000 35 0% 36 25% - - - - - NULL ACSM4 341392 genome.wustl.edu 37 12 7475888 7475888 + Missense_Mutation SNP G G A novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_001080454.1 +1 provisional p.G395E 0.960 41 0% 55 14.5% - - benign(0.102) deleterious(0.01) neutral(0.414) HMMPfam_AMP-binding,superfamily_SSF56801 KRT71 112802 genome.wustl.edu 37 12 52940176 52940176 + Missense_Mutation SNP C C G novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_033448.2 -1 reviewed p.E407Q 1.000 40 0% 72 13.9% - - probably_damaging(0.999) deleterious(0.04) deleterious(0.839) HMMPfam_Filament ESYT1 23344 genome.wustl.edu 37 12 56522418 56522418 + Silent SNP G G T novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_015292.2 +1 validated p.A105 1.000 70 0% 167 18.6% - - - - - NULL KIF5A 3798 genome.wustl.edu 37 12 57957944 57957944 + Missense_Mutation SNP C C A novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_004984.2 +1 reviewed p.D115E 1.000 37 0% 50 16% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases FGD6 55785 genome.wustl.edu 37 12 95603360 95603360 + Missense_Mutation SNP C C A novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_018351.3 -1 validated p.W567L 1.000 28 0% 30 20% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL TMEM132D 121256 genome.wustl.edu 37 12 129559256 129559256 + Missense_Mutation SNP C C A novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_133448.2 -1 validated p.V822F 0.000 116 0% 119 10.9% - - benign(0) tolerated(0.71) neutral(0.002) NULL OR4K1 79544 genome.wustl.edu 37 14 20404069 20404069 + Frame_Shift_Del DEL C C - novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_001004063.2 +1 validated p.V83fs 0.978 - - - - - - - - - HMMPfam_7tm_1,superfamily_SSF81321 ENSG00000197358 0 genome.wustl.edu 37 14 28734134 28734134 + Missense_Mutation SNP A A T novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f ENST00000355069 +1 known p.K125N 1.000 75 0% 65 30.8% - - - - - HMMPfam_BNIP3 IGHV4-28 28400 genome.wustl.edu 37 14 106780546 106780546 + Silent SNP G G A novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f ENST00000390612 -1 known p.T106 0.005 98 0% 83 79.5% - - - - - HMMSmart_IGv,HMMPfam_V-set,superfamily_SSF48726 INO80 54617 genome.wustl.edu 37 15 41388499 41388499 + Missense_Mutation SNP C C G novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_017553.1 -1 reviewed p.E4Q 1.000 32 0% 44 27.3% - - benign(0.037) tolerated(0.24) neutral(0.040) NULL MGA 23269 genome.wustl.edu 37 15 42052641 42052641 + Nonsense_Mutation SNP G G T novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_001080541.2 +1 validated p.E2487* 1.000 67 0% 48 31.2% - - - - - HMMPfam_HLH,HMMSmart_SM00353,superfamily_HLH helix-loop-helix DNA-binding domain CASC4 113201 genome.wustl.edu 37 15 44671917 44671917 + Missense_Mutation SNP C C G novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_138423.2 +1 reviewed p.Q278E 0.999 78 0% 58 46.6% - - benign(0.001) tolerated(0.86) neutral(0.001) NULL CILP 8483 genome.wustl.edu 37 15 65496643 65496643 + Silent SNP C C A novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_003613.3 -1 reviewed p.L294 0.026 52 0% 53 34% - - - - - NULL HEXA 3073 genome.wustl.edu 37 15 72668071 72668071 + Silent SNP A A C novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_000520.4 -1 reviewed p.P81 0.000 11 0% 30 26.7% - - - - - HMMPfam_Glyco_hydro_20b,superfamily_beta-N-acetylhexosaminidase-like domain LOC81691 81691 genome.wustl.edu 37 16 20818409 20818409 + Missense_Mutation SNP C C A novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_030941.2 +1 validated p.A45D 0.350 19 0% 22 40.9% - - possibly_damaging(0.952) deleterious(0.01) deleterious(0.801) NULL KIAA0556 23247 genome.wustl.edu 37 16 27751970 27751970 + Missense_Mutation SNP G G C novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_015202.2 +1 validated p.W784C 0.000 20 0% 16 43.8% - - possibly_damaging(0.7) tolerated(0.06) deleterious(0.574) NULL DPEP3 64180 genome.wustl.edu 37 16 68012239 68012239 + Missense_Mutation SNP G G A novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_022357.3 -1 reviewed p.S231F 0.998 42 0% 36 44.4% - - possibly_damaging(0.95) deleterious(0) deleterious(0.838) PatternScan_RENAL_DIPEPTIDASE_1,HMMPfam_Peptidase_M19,superfamily_Metallo-dependent hydrolases CD68 968 genome.wustl.edu 37 17 7483303 7483303 + Silent SNP G G A novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_001251.2 +1 reviewed p.T75 0.000 248 0.4% 221 14.5% - - - - - HMMPfam_Lamp TP53 7157 genome.wustl.edu 37 17 7577107 7577108 + In_Frame_Ins INS - - CAG novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_000546.4 -1 reviewed p.278in_frame_insC 1.000:1.000 - - - - - - - - - superfamily_p53-like transcription factors,HMMPfam_P53 ZNF286A 57335 genome.wustl.edu 37 17 15620117 15620117 + Missense_Mutation SNP A A G novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_001130842.1 +1 validated p.D360G 0.986 70 0% 71 28.2% - - possibly_damaging(0.94) tolerated(1) neutral(0.385) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 WSB1 26118 genome.wustl.edu 37 17 25639260 25639260 + Silent SNP T T C novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_015626.8 +1 reviewed p.F377 1.000 45 0% 55 20% - - - - - HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 ENSG00000174093 0 genome.wustl.edu 37 17 36361714 36361715 + Frame_Shift_Del DEL CT CT - novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 CT CT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f ENST00000312412 -1 known p.R210fs 1.000:0.999 - - - - - - - - - HMMPfam_Peptidase_M1,superfamily_Leukotriene A4 hydrolase N-terminal domain KAT2A 2648 genome.wustl.edu 37 17 40266089 40266089 + Missense_Mutation SNP G G A novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_021078.2 -1 validated p.A750V 1.000 28 0% 28 89.3% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Bromodomain,HMMSmart_SM00297,superfamily_Bromodomain,PatternScan_BROMODOMAIN_1 MLX 6945 genome.wustl.edu 37 17 40723571 40723571 + Missense_Mutation SNP C C T novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_170607.2 +1 reviewed p.R283W 0.697 64 1.6% 63 31.7% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_Bet v1-like RNF43 54894 genome.wustl.edu 37 17 56440645 56440645 + Silent SNP G G A novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_017763.4 -1 validated p.P191 1.000 84 0% 60 25% - - - - - NULL ANKRD30B 374860 genome.wustl.edu 37 18 14842916 14842916 + Missense_Mutation SNP C C T novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_001145029.1 +1 validated p.H915Y 0.001 328 0% 310 12.3% - - benign(0.149) tolerated(0.14) neutral(0.263) NULL FBXO15 201456 genome.wustl.edu 37 18 71803101 71803101 + Silent SNP T T G novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_001142958.1 -1 reviewed p.G76 0.812 33 0% 56 32.1% - - - - - HMMPfam_F-box,superfamily_SSF81383 CACNA1A 773 genome.wustl.edu 37 19 13365977 13365977 + Missense_Mutation SNP C C T novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_001127222.1 -1 reviewed p.V1563M 1.000 70 0% 75 49.3% - - benign(0.425) deleterious(0.02) deleterious(0.521) superfamily_Voltage-gated potassium channels LOC400682 400682 genome.wustl.edu 37 19 21838338 21838338 + Silent SNP A A G novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f XM_001726878.1 +1 model p.E21 0.111 45 0% 48 14.6% - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ARHGAP35 2909 genome.wustl.edu 37 19 47424909 47424910 + Frame_Shift_Ins INS - - A novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_004491.4 +1 reviewed p.Y993fs 0.934:0.912 - - - - - - - - - NULL TMEM86B 255043 genome.wustl.edu 37 19 55738885 55738885 + Silent SNP G G A novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_173804.4 -1 validated p.F115 0.139 18 0% 13 61.5% - - - - - HMMPfam_YhhN C20orf118 140711 genome.wustl.edu 37 20 35517720 35517720 + Silent SNP C C T novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_080628.1 +1 predicted p.F193 1.000 23 0% 36 33.3% - - - - - HMMPfam_TLD,HMMSmart_TLDc PRPF6 24148 genome.wustl.edu 37 20 62659905 62659905 + Missense_Mutation SNP A A C novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_012469.3 +1 reviewed p.Q805P 1.000 26 0% 42 16.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_HAT,superfamily_SSF48452 ATP6V1E1 529 genome.wustl.edu 37 22 18095626 18095626 + Missense_Mutation SNP C C T novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_001696.3 -1 reviewed p.M76I 1.000 65 0% 116 13.8% - - benign(0.017) deleterious(0.03) neutral(0.365) HMMPfam_vATP-synt_E ENSG00000212884 0 genome.wustl.edu 37 GL000205.1 117769 117769 + Silent SNP C C A novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f ENST00000391571 +1 known p.R134 NULL 34 0% 33 24.2% - - - - - NULL PLP2 5355 genome.wustl.edu 37 X 49031029 49031029 + Missense_Mutation SNP G G C novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_002668.2 +1 reviewed p.D149H 1.000 179 0% 208 23.6% - - benign(0.001) deleterious(0.01) neutral(0.406) NULL FGD1 2245 genome.wustl.edu 37 X 54496764 54496764 + Silent SNP G G T novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_004463.2 -1 reviewed p.S262 0.995 38 0% 54 42.6% - - - - - NULL GNL3L 54552 genome.wustl.edu 37 X 54574747 54574747 + Missense_Mutation SNP T T C novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_019067.5 +1 reviewed p.V239A 0.974 64 0% 87 20.7% - - possibly_damaging(0.624) deleterious(0.01) deleterious(0.623) superfamily_SSF52540 TSPAN6 7105 genome.wustl.edu 37 X 99890695 99890695 + Missense_Mutation SNP G G C novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_003270.2 -1 reviewed p.L46V 1.000 33 0% 46 37% - - possibly_damaging(0.521) deleterious(0.02) deleterious(0.558) HMMPfam_Tetraspannin ARMCX3 51566 genome.wustl.edu 37 X 100880268 100880268 + Frame_Shift_Del DEL G G - novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_016607.3 +1 reviewed p.A101fs 0.049 - - - - - - - - - superfamily_ARM-type_fold GPRASP1 9737 genome.wustl.edu 37 X 101911725 101911725 + Missense_Mutation SNP G G C novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_001099410.1 +1 reviewed p.E962Q 0.893 72 0% 119 26.1% - - probably_damaging(0.998) tolerated(0.09) deleterious(0.771) NULL TMEM164 84187 genome.wustl.edu 37 X 109247077 109247077 + Silent SNP G G T novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_032227.3 +1 validated p.G25 1.000 29 0% 47 14.9% - - - - - NULL LUZP4 51213 genome.wustl.edu 37 X 114541134 114541134 + Missense_Mutation SNP G G C novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_016383.3 +1 validated p.G236A 0.000 64 1.6% 98 38.8% - - benign(0.05) tolerated(0.15) neutral(0.244) NULL ARHGEF6 9459 genome.wustl.edu 37 X 135757256 135757256 + Splice_Site SNP C C A novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_004840.2 -1 reviewed e19-1 1.000 70 0% 88 28.4% - - - - - - ARHGAP4 393 genome.wustl.edu 37 X 153187214 153187214 + Missense_Mutation SNP C C T novel TCGA-AJ-A23M-01A-11D-A159-09 TCGA-AJ-A23M-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4616fa8c-b332-46fa-aaa6-b8407a746325 f454293a-1af4-4483-bd92-ce855cb2ad1f NM_001666.4 -1 reviewed p.G39D 0.930 7 0.000 13 0.308 - - probably_damaging(0.999) tolerated(0.2) deleterious(0.539) HMMPfam_FCH,HMMSmart_FCH