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 MMEL1 79258 genome.wustl.edu 37 1 2538482 2538482 + Missense_Mutation SNP G G A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_033467.3 -1 reviewed p.P179S 1.000 64 0% 12 33.3% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) "HMMPfam_Peptidase_M13_N,superfamily_Metalloproteases (""zincins"") catalytic domain" CAMTA1 23261 genome.wustl.edu 37 1 7805981 7805981 + Missense_Mutation SNP G G A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_015215.1 +1 validated p.A1483T 0.427 123 0% 120 32.5% 0 - benign(0) tolerated(0.44) neutral(0.013) NULL PER3 8863 genome.wustl.edu 37 1 7887395 7887395 + Missense_Mutation SNP G G T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_016831.1 +1 reviewed p.Q794H 0.176 78 0% 112 31.2% 0 - possibly_damaging(0.928) deleterious(0) deleterious(0.820) NULL FBXO42 54455 genome.wustl.edu 37 1 16578103 16578103 + Missense_Mutation SNP C C T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_018994.1 -1 provisional p.G406S 1.000 86 0% 80 21.2% 9 22.2% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PADI2 11240 genome.wustl.edu 37 1 17401415 17401415 + Silent SNP C C T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_007365.2 -1 reviewed p.S495 0.009 103 0% 91 11% 0 - - - - HMMPfam_PAD,superfamily_SSF55909 ARHGEF10L 55160 genome.wustl.edu 37 1 17949605 17949605 + Missense_Mutation SNP G G A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_018125.3 +1 validated p.A379T 1.000 106 0% 34 32.4% 2 50% probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) ZNF436 80818 genome.wustl.edu 37 1 23689466 23689466 + Missense_Mutation SNP A A T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_001077195.1 -1 validated p.Y137N 0.195 179 0% 172 32.6% 0 - benign(0.157) tolerated(0.3) neutral(0.043) superfamily_SSF57667 ZNF642 339559 genome.wustl.edu 37 1 40945156 40945158 + In_Frame_Del DEL AGA AGA - novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 AGA AGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_198494.2 +1 validated p.E42in_frame_del 1.000:0.999:0.998 - - - - - - - - - NULL TTC39A 22996 genome.wustl.edu 37 1 51787810 51787810 + Silent SNP G G A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_001080494.2 -1 validated p.D8 0.969 77 0% 97 25.8% 0 - - - - NULL NRD1 4898 genome.wustl.edu 37 1 52285504 52285504 + Missense_Mutation SNP A A C novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_002525.2 -1 validated p.F488C 1.000 145 0% 343 31.5% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Peptidase_M16_C TMEM61 199964 genome.wustl.edu 37 1 55451893 55451893 + Missense_Mutation SNP C C T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_182532.1 +1 provisional p.P47S 0.002 55 0% 17 41.2% 1 0% probably_damaging(0.998) - - NULL SRSF11 9295 genome.wustl.edu 37 1 70703202 70703202 + Missense_Mutation SNP G G A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_004768.2 +1 reviewed p.A229T 1.000 239 0% 284 23.2% 9 44.4% unknown(0) tolerated(0.06) - NULL SASS6 163786 genome.wustl.edu 37 1 100572521 100572521 + Missense_Mutation SNP G G T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_194292.1 -1 validated p.A452D 1.000 186 0% 422 10.9% 0 - benign(0.174) tolerated(0.55) neutral(0.023) NULL SLC25A24 29957 genome.wustl.edu 37 1 108697692 108697692 + Silent SNP T T C novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_013386.3 -1 validated p.G245 1.000 188 0% 394 27.4% 0 - - - - superfamily_Mitochondrial carrier,HMMPfam_Mito_carr HIPK1 204851 genome.wustl.edu 37 1 114498189 114498189 + Missense_Mutation SNP C C A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_198268.1 +1 reviewed p.P442H 1.000 73 0% 285 28.8% 1 0% probably_damaging(0.995) deleterious(0.01) deleterious(0.863) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase FAM46C 54855 genome.wustl.edu 37 1 118165644 118165644 + Missense_Mutation SNP G G A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_017709.3 +1 validated p.V52I 1.000 85 0% 63 23.8% 1 100% benign(0.006) tolerated(0.51) neutral(0.009) HMMPfam_DUF1693 NOTCH2 4853 genome.wustl.edu 37 1 120462020 120462020 + Missense_Mutation SNP G G A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_024408.2 -1 reviewed p.A1899V 1.000 54 0% 49 12.2% 1 0% probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK BCL9 607 genome.wustl.edu 37 1 147092212 147092212 + Missense_Mutation SNP C C T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_004326.2 +1 reviewed p.R751C 0.024 42 0% 47 29.8% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL LINGO4 339398 genome.wustl.edu 37 1 151774961 151774961 + Missense_Mutation SNP C C A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_001004432.2 -1 provisional p.G74W 1.000 72 0% 41 36.6% 0 - probably_damaging(0.994) tolerated(0.14) deleterious(0.702) superfamily_SSF52058 PKLR 5313 genome.wustl.edu 37 1 155264136 155264136 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a ENST00000392414 -1 known p.W327* 1.000 207 0% 217 27.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PK,superfamily_Phosphoenolpyruvate/pyruvate domain RUSC1 23623 genome.wustl.edu 37 1 155296382 155296382 + Missense_Mutation SNP C C A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_001105203.1 +1 validated p.L625I 0.626 81 0% 44 29.5% 7 42.8% possibly_damaging(0.616) tolerated(0.47) neutral(0.226) HMMPfam_RUN,HMMSmart_SM00593 HSD17B7 51478 genome.wustl.edu 37 1 162762578 162762578 + Silent SNP T T C novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_016371.2 +1 validated p.A55 0.009 102 0% 85 23.5% 0 - - - - HMMPfam_adh_short,superfamily_NAD(P)-binding Rossmann-fold domains LMX1A 4009 genome.wustl.edu 37 1 165177316 165177316 + Silent SNP G G T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_177398.3 -1 validated p.T267 0.755 76 0% 49 32.7% 0 - - - - NULL TADA1 117143 genome.wustl.edu 37 1 166831633 166831633 + Missense_Mutation SNP T T C novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_053053.3 -1 validated p.Q116R 1.000 160 0% 153 34% 1 0% possibly_damaging(0.836) tolerated(0.17) neutral(0.379) NULL IGFN1 91156 genome.wustl.edu 37 1 201184186 201184186 + Missense_Mutation SNP C C T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a ENST00000451870 +1 known p.H510Y 0.851 62 0% 41 34.1% 0 - benign(0.017) deleterious(0.01) neutral(0.406) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin MFSD4 148808 genome.wustl.edu 37 1 205548878 205548878 + Splice_Site SNP G G A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_181644.4 +1 validated e2-1 1.000 256 0% 86 32.6% 0 - - - - - MARC2 54996 genome.wustl.edu 37 1 220936374 220936374 + Silent SNP C C T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_017898.3 +1 provisional p.G244 1.000 418 0% 448 19.4% 3 0% - - - HMMPfam_MOSC,superfamily_PK beta-barrel domain-like JMJD4 65094 genome.wustl.edu 37 1 227920657 227920657 + Missense_Mutation SNP C C G novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_023007.2 -1 validated p.Q344H 0.984 61 0% 15 33.3% 22 68.1% probably_damaging(0.988) tolerated(0.51) neutral(0.447) HMMSmart_SM00558,superfamily_Clavaminate synthase-like ABCB10 23456 genome.wustl.edu 37 1 229683352 229683352 + Missense_Mutation SNP A A T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_012089.2 -1 reviewed p.I272N 0.998 92 0% 124 16.9% 0 - probably_damaging(0.976) deleterious(0) deleterious(0.863) HMMPfam_ABC_membrane,superfamily_ABC_TM_1 PGBD2 267002 genome.wustl.edu 37 1 249211989 249211989 + Silent SNP C C T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_170725.2 +1 validated p.V402 0.161 75 0% 171 32.2% 1 100% - - - NULL COLEC11 78989 genome.wustl.edu 37 2 3691061 3691061 + Missense_Mutation SNP G G A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_024027.3 +1 validated p.R119H 0.921 45 0% 14 35.7% 2 0% probably_damaging(0.999) tolerated(0.12) deleterious(0.751) NULL LAPTM4A 9741 genome.wustl.edu 37 2 20234775 20234775 + Missense_Mutation SNP G G C novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_014713.4 -1 reviewed p.L161V 1.000 156 0% 463 28.5% 261 38.3% probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMPfam_Mtp ITSN2 50618 genome.wustl.edu 37 2 24432005 24432005 + Missense_Mutation SNP C C A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_006277.2 -1 reviewed p.R1520L 1.000 181 0% 272 24.3% 4 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_PH,HMMSmart_SM00233,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),superfamily_PH domain-like HADHB 3032 genome.wustl.edu 37 2 26496539 26496539 + Missense_Mutation SNP G G A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_000183.2 +1 reviewed p.S92N 0.010 165 0% 259 25.5% 15 53.3% benign(0.123) tolerated(0.26) neutral(0.044) HMMPfam_Thiolase_N,superfamily_Thiolase-like ALK 238 genome.wustl.edu 37 2 29432652 29432652 + Missense_Mutation SNP C C A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_004304.3 -1 reviewed p.R1279M 1.000 89 0% 72 11.1% 0 - 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) BIRC6 57448 genome.wustl.edu 37 2 32693581 32693581 + Missense_Mutation SNP G G A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_016252.3 +1 reviewed p.A1953T 1.000 136 0% 163 18.4% 1 100% probably_damaging(0.978) deleterious(0.05) deleterious(0.766) NULL SIX2 10736 genome.wustl.edu 37 2 45235818 45235818 + Silent SNP C C T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_016932.4 -1 reviewed p.A144 0.984 76 0% 21 42.9% 0 - - - - HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like FBXO11 80204 genome.wustl.edu 37 2 48066602 48066602 + Missense_Mutation SNP C C G rs139756043 by1000genomes TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_025133.3 -1 reviewed p.R49P 1.000 153 0% 183 20.2% 0 - probably_damaging(0.998) tolerated(0.11) deleterious(0.746) NULL ZNF638 27332 genome.wustl.edu 37 2 71615800 71615800 + Missense_Mutation SNP G G A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a ENST00000410075 +1 known p.A809T 0.049 42 0% 57 12.3% 3 0% possibly_damaging(0.792) deleterious(0.02) deleterious(0.680) NULL SFXN5 94097 genome.wustl.edu 37 2 73226096 73226096 + Nonsense_Mutation SNP G G C novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a ENST00000425259 -1 known p.S29* 1.000 144 0% 113 32.7% 0 - possibly_damaging(0.44) tolerated(0.09) neutral(0.440) HMMPfam_Mtc REEP1 65055 genome.wustl.edu 37 2 86481861 86481861 + Silent SNP G G A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_022912.2 -1 reviewed p.L87 1.000 173 0% 386 30.8% 1 100% - - - HMMPfam_TB2_DP1_HVA22 RNF103 7844 genome.wustl.edu 37 2 86831569 86831569 + Silent SNP G G A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_005667.2 -1 reviewed p.D485 1.000 82 0% 235 26.4% 15 46.6% - - - NULL RGPD3 653489 genome.wustl.edu 37 2 107049425 107049425 + Missense_Mutation SNP A A C novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_001144013.1 -1 validated p.L812R 1.000 403 1.2% 1120 20.6% 0 - probably_damaging(0.996) tolerated(0.35) deleterious(0.482) NULL GALNT3 2591 genome.wustl.edu 37 2 166616000 166616000 + Missense_Mutation SNP C C T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_004482.3 -1 reviewed p.A307T 1.000 149 0% 83 18.1% 1 0% benign(0) tolerated(0.09) neutral(0.296) HMMPfam_Glycos_transf_2,superfamily_Nucleotide-diphospho-sugar transferases DHRS9 10170 genome.wustl.edu 37 2 169939953 169939953 + Missense_Mutation SNP G G A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_001142270.1 +1 validated p.S143N 0.014 136 0% 315 30.5% 0 - benign(0) tolerated(0.35) neutral(0.021) HMMPfam_adh_short,superfamily_NAD(P)-binding Rossmann-fold domains ITGAV 3685 genome.wustl.edu 37 2 187511543 187511543 + Missense_Mutation SNP G G A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_002210.3 +1 reviewed p.M430I 1.000 180 0% 385 22.9% 2 100% benign(0.022) tolerated(0.61) neutral(0.005) HMMSmart_SM00191,superfamily_Integrin alpha N-terminal domain MFSD6 54842 genome.wustl.edu 37 2 191362204 191362204 + Missense_Mutation SNP G G A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_017694.3 +1 validated p.S644N 1.000 156 0% 260 27.3% 1 0% probably_damaging(0.978) tolerated(0.24) neutral(0.458) NULL DNAH7 56171 genome.wustl.edu 37 2 196774867 196774867 + Missense_Mutation SNP C C A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_018897.2 -1 validated p.A1330S 1.000 112 0% 132 27.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases ERBB4 2066 genome.wustl.edu 37 2 212289002 212289002 + Missense_Mutation SNP G G C novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_005235.2 -1 reviewed p.T915S 1.000 144 0% 224 35.3% 1 100% probably_damaging(0.997) tolerated(0.09) deleterious(0.762) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) SLC11A1 6556 genome.wustl.edu 37 2 219249962 219249962 + Silent SNP C C T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_000578.3 +1 reviewed p.G122 0.010 67 0% 38 23.7% 1 0% - - - HMMPfam_Nramp ATG16L1 55054 genome.wustl.edu 37 2 234198502 234198502 + Missense_Mutation SNP C C A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_030803.6 +1 validated p.H402Q 1.000 110 0% 102 32.4% 0 - unknown(0) deleterious(0.05) - HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 ITPR1 3708 genome.wustl.edu 37 3 4725385 4725385 + Missense_Mutation SNP C C A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_001099952.2 +1 reviewed p.S1125Y 1.000 140 0% 316 32% 1 0% possibly_damaging(0.629) tolerated(0.22) neutral(0.262) NULL PLCL2 23228 genome.wustl.edu 37 3 17052031 17052031 + Missense_Mutation SNP G G A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_015184.5 +1 validated p.G272D 1.000 65 0% 106 25.5% 0 - possibly_damaging(0.949) tolerated(0.1) deleterious(0.679) HMMPfam_efhand_like,superfamily_SSF47473 SCN5A 6331 genome.wustl.edu 37 3 38601874 38601874 + Missense_Mutation SNP C C T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_001099404.1 -1 reviewed p.V1337I 1.000 240 0% 267 24.7% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels CCR9 10803 genome.wustl.edu 37 3 45942506 45942506 + Missense_Mutation SNP T T G novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_031200.1 +1 reviewed p.C76G 1.000 308 0% 188 35.1% 0 - possibly_damaging(0.553) tolerated(0.31) neutral(0.215) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like LAMB2 3913 genome.wustl.edu 37 3 49161028 49161028 + Silent SNP C C T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_002292.3 -1 reviewed p.Q1278 0.952 75 0% 33 24.2% 16 37.5% - - - NULL CACNA2D3 55799 genome.wustl.edu 37 3 55043449 55043449 + Missense_Mutation SNP C C T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_018398.2 +1 reviewed p.H952Y 1.000 230 0% 299 30.1% 1 0% benign(0) tolerated(1) - NULL ROBO1 6091 genome.wustl.edu 37 3 78987928 78987929 + Frame_Shift_Del DEL CT CT - novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 CT CT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_002941.3 -1 reviewed p.R107fs 1.000:1.000 - - - - - - - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin MYLK 4638 genome.wustl.edu 37 3 123357009 123357009 + Missense_Mutation SNP T T A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_053025.3 -1 reviewed p.T1624S 1.000 85 0% 76 27.6% 2 50% benign(0.005) deleterious(0) neutral(0.445) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase COL6A5 256076 genome.wustl.edu 37 3 130110455 130110455 + Silent SNP A A G novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_153264.5 +1 validated p.A950 0.978 77 1.3% 166 27.7% 0 - - - - HMMPfam_VWA,HMMSmart_VWA,superfamily_SSF53300 PLSCR5 389158 genome.wustl.edu 37 3 146311731 146311731 + Silent SNP G G A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_001085420.1 -1 validated p.C143 1.000 105 0% 144 31.2% 0 - - - - HMMPfam_Scramblase IFT80 57560 genome.wustl.edu 37 3 160083920 160083920 + Missense_Mutation SNP C C T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_020800.1 -1 validated p.A154T 1.000 103 0% 456 28.3% 0 - benign(0.01) tolerated(0.56) neutral(0.007) HMMSmart_WD40,superfamily_WD40_like SLC7A14 57709 genome.wustl.edu 37 3 170198391 170198391 + Silent SNP C C T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_020949.2 -1 validated p.A560 0.004 185 0% 118 32.2% 0 - - - - NULL PIK3CA 5290 genome.wustl.edu 37 3 178916890 178916890 + Missense_Mutation SNP C C T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_006218.2 +1 reviewed p.R93W 1.000 62 0% 156 28.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PI3K_p85B,HMMSmart_PI3K_p85B PIK3CA 5290 genome.wustl.edu 37 3 178922363 178922363 + Missense_Mutation SNP T T C novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_006218.2 +1 reviewed p.C378R 1.000 220 0% 243 27.6% 0 - probably_damaging(0.964) tolerated(0.35) neutral(0.427) HMMSmart_C2,HMMPfam_PI3K_C2,HMMSmart_PI3K_C2,superfamily_C2_CaLB IL1RAP 3556 genome.wustl.edu 37 3 190363532 190363534 + In_Frame_Del DEL GAA GAA - novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 GAA GAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_002182.3 +1 reviewed p.E419in_frame_del 1.000:1.000:1.000 - - - - - - - - - HMMPfam_TIR,HMMSmart_SM00255,superfamily_Toll/Interleukin receptor TIR domain LOC650293 650293 genome.wustl.edu 37 4 8951675 8951675 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_001040071.1 +1 provisional p.Q67* 0.617 140 0.7% 158 32.9% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 DHX15 1665 genome.wustl.edu 37 4 24572455 24572455 + Missense_Mutation SNP C C A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_001358.2 -1 reviewed p.V175L 1.000 260 0% 343 28.3% 7 85.7% benign(0) tolerated(1) - HMMSmart_AAA,HMMSmart_DEXDc,superfamily_SSF52540 UGT2B7 7364 genome.wustl.edu 37 4 69962466 69962466 + Silent SNP T T C novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_001074.2 +1 validated p.I76 0.000 77 0% 183 30.1% 0 - - - - HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase METAP1 23173 genome.wustl.edu 37 4 99982307 99982307 + Missense_Mutation SNP G G C novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_015143.2 +1 validated p.G334R 1.000 92 0% 105 38.1% 9 44.4% benign(0.005) tolerated(0.06) neutral(0.323) HMMPfam_Peptidase_M24,superfamily_Creatinase/aminopeptidase RG9MTD2 93587 genome.wustl.edu 37 4 100475082 100475082 + Missense_Mutation SNP T T C novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_001134665.1 -1 validated p.I169V 0.974 273 0% 358 24% 5 20% benign(0.008) tolerated(0.52) neutral(0.009) HMMPfam_tRNA_m1G_MT EMCN 51705 genome.wustl.edu 37 4 101396250 101396250 + Missense_Mutation SNP T T A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_016242.3 -1 validated p.E68D 0.000 93 0% 446 27.4% 1 0% possibly_damaging(0.568) deleterious(0) deleterious(0.639) HMMPfam_Endomucin ALPK1 80216 genome.wustl.edu 37 4 113353163 113353163 + Silent SNP C C A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_001102406.1 +1 validated p.S820 0.002 82 0% 72 29.2% 4 100% - - - NULL SEC24D 9871 genome.wustl.edu 37 4 119666150 119666150 + Silent SNP C C T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_014822.2 -1 reviewed p.G591 0.909 220 0% 343 25.1% 3 66.6% - - - HMMPfam_Sec23_trunk,superfamily_vWA-like FAT4 79633 genome.wustl.edu 37 4 126412283 126412283 + Missense_Mutation SNP G G A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_024582.4 +1 validated p.R4769H 1.000 53 0% 40 22.5% 0 - probably_damaging(1) tolerated(0.13) deleterious(0.752) NULL PCDH10 57575 genome.wustl.edu 37 4 134072054 134072054 + Silent SNP C C T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_032961.1 +1 reviewed p.P253 1.000 95 0% 60 30% 0 - - - - superfamily_Cadherin-like GAB1 2549 genome.wustl.edu 37 4 144354723 144354723 + Silent SNP C C A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a ENST00000512843 +1 known p.P27H 0.104 237 0% 439 25.7% 0 - - - - NULL TRIM60 166655 genome.wustl.edu 37 4 165961438 165961438 + Missense_Mutation SNP C C T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_152620.2 +1 reviewed p.R72C 0.000 202 0% 169 27.8% 0 - benign(0.017) deleterious(0.01) neutral(0.406) superfamily_SSF57850 SORBS2 8470 genome.wustl.edu 37 4 186545502 186545502 + Missense_Mutation SNP C C T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_021069.4 -1 reviewed p.G357S 0.989 121 0% 98 35.7% 0 - probably_damaging(1) tolerated(0.19) deleterious(0.549) NULL PAPD7 11044 genome.wustl.edu 37 5 6748668 6748668 + Silent SNP G G A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_006999.4 +1 reviewed p.P267 0.319 191 0% 97 34% 0 - - - - NULL TSSK1B 83942 genome.wustl.edu 37 5 112770528 112770528 + Silent SNP G G A rs192415501 by1000genomes TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_032028.3 -1 validated p.D3 0.988 38 0% 32 15.6% 0 - - - - NULL ADAMTS19 171019 genome.wustl.edu 37 5 129070631 129070631 + Missense_Mutation SNP A A G novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_133638.3 +1 reviewed p.I1101V 0.998 89 0% 193 29% 0 - benign(0.002) tolerated(1) - HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat,PatternScan_ZINC_FINGER_C2H2_1 P4HA2 8974 genome.wustl.edu 37 5 131533962 131533962 + Silent SNP A A G novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_001142599.1 -1 reviewed p.N436 0.932 313 0% 292 32.5% 11 54.5% - - - HMMPfam_2OG-FeII_Oxy,HMMSmart_SM00702 PCDHA11 56138 genome.wustl.edu 37 5 140250670 140250670 + Missense_Mutation SNP C C T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_018902.3 +1 reviewed p.T661M 0.998 42 0% 15 40% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHA13 56136 genome.wustl.edu 37 5 140263587 140263587 + Silent SNP C C T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_018904.2 +1 reviewed p.S578 0.648 60 0% 28 28.6% 0 - - - - superfamily_Cadherin-like PCDHB8 56128 genome.wustl.edu 37 5 140559246 140559246 + Missense_Mutation SNP G G A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_019120.2 +1 reviewed p.S544N 1.000 96 0% 42 31% 1 0% possibly_damaging(0.584) deleterious(0.03) deleterious(0.566) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin LARS 51520 genome.wustl.edu 37 5 145522644 145522644 + Silent SNP C C T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_020117.9 -1 reviewed p.P627 0.000 40 0% 121 32.2% 11 72.7% - - - superfamily_Nucleotidylyl transferase RBM22 55696 genome.wustl.edu 37 5 150080022 150080022 + Missense_Mutation SNP T T G novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_018047.2 -1 reviewed p.N31T 1.000 210 0% 168 29.8% 5 60% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL GLRA1 2741 genome.wustl.edu 37 5 151208549 151208549 + Missense_Mutation SNP G G A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_000171.3 -1 reviewed p.A331V 0.992 80 0% 76 36.8% 0 - probably_damaging(0.998) tolerated(1) deleterious(0.474) HMMPfam_Neur_chan_memb,superfamily_Neurotransmitter-gated ion-channel transmembrane pore SOX30 11063 genome.wustl.edu 37 5 157065492 157065492 + Silent SNP G G A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_178424.1 -1 reviewed p.S542 0.104 96 0% 173 35.3% 0 - - - - NULL SLU7 10569 genome.wustl.edu 37 5 159842139 159842139 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_006425.4 -1 reviewed p.E55* 1.000 268 0% 697 28.8% 1 0% - - - NULL GABRP 2568 genome.wustl.edu 37 5 170236617 170236617 + Missense_Mutation SNP G G A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_014211.2 +1 reviewed p.R293H 1.000 412 0% 339 28.9% 5 20% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Neur_chan_memb,superfamily_Neurotransmitter-gated ion-channel transmembrane pore C5orf25 375484 genome.wustl.edu 37 5 175717103 175717104 + In_Frame_Ins INS - - AGG novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a ENST00000420396 +1 known p.174in_frame_insR 0.055:0.033 - - - - - - - - - NULL C5orf25 375484 genome.wustl.edu 37 5 175717343 175717343 + Silent SNP G G A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a ENST00000420396 +1 known p.R253 0.035 308 0% 388 34.3% 1 100% - - - NULL DOK3 79930 genome.wustl.edu 37 5 176936498 176936498 + Missense_Mutation SNP T T C novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_024872.2 -1 validated p.Q71R 1.000 116 0% 32 34.4% 3 0% probably_damaging(0.955) deleterious(0.04) deleterious(0.748) HMMPfam_PH,HMMSmart_SM00233 HNRNPH1 3187 genome.wustl.edu 37 5 179045279 179045279 + Missense_Mutation SNP A A C novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_005520.2 -1 reviewed p.H194Q 0.993 202 0% 87 25.3% 30 6.6% benign(0.039) tolerated(0.1) neutral(0.288) superfamily_RNA-binding domain RBD KIF13A 63971 genome.wustl.edu 37 6 17800268 17800268 + Missense_Mutation SNP G G A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_022113.4 -1 validated p.S844L 1.000 177 0% 168 29.8% 0 - probably_damaging(0.973) deleterious(0.03) deleterious(0.779) NULL DDR1 780 genome.wustl.edu 37 6 30860113 30860113 + Missense_Mutation SNP C C A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_013994.2 +1 reviewed p.P298H 1.000 138 0% 198 29.8% 9 33.3% probably_damaging(0.97) deleterious(0.01) deleterious(0.818) NULL BYSL 705 genome.wustl.edu 37 6 41900317 41900317 + Missense_Mutation SNP A A G novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_004053.3 +1 reviewed p.D396G 0.998 85 0% 44 34.1% 17 35.2% benign(0.004) deleterious(0) neutral(0.445) HMMPfam_Bystin RCAN2 10231 genome.wustl.edu 37 6 46214543 46214543 + Silent SNP G G A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_005822.2 -1 validated p.N125 0.167 133 0% 102 12.7% 4 0% - - - HMMPfam_Calcipressin TDRD6 221400 genome.wustl.edu 37 6 46660536 46660536 + Missense_Mutation SNP G G T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_001010870.2 +1 validated p.Q1557H 0.000 169 0% 298 27.2% 0 - benign(0.002) tolerated(0.23) neutral(0.042) HMMPfam_TUDOR TDRD6 221400 genome.wustl.edu 37 6 46661434 46661434 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_001010870.2 +1 validated p.Q1857* 0.452 21 0% 67 32.8% 0 - - - - NULL DST 667 genome.wustl.edu 37 6 56472914 56472914 + Missense_Mutation SNP G G A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a ENST00000370769 -1 known p.S1960F 0.966 59 0% 145 11% 0 - probably_damaging(0.992) deleterious(0) deleterious(0.892) NULL KLHL32 114792 genome.wustl.edu 37 6 97561929 97561929 + Missense_Mutation SNP G G A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_052904.3 +1 validated p.E300K 1.000 108 0% 110 25.5% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMSmart_SM00612,superfamily_Galactose oxidase central domain MMS22L 253714 genome.wustl.edu 37 6 97626329 97626329 + Missense_Mutation SNP C C T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_198468.2 -1 predicted p.R890Q 0.002 43 0% 312 29.2% 0 - benign(0.006) tolerated(0.62) neutral(0.004) NULL LAMA2 3908 genome.wustl.edu 37 6 129802584 129802584 + Missense_Mutation SNP G G T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_000426.3 +1 reviewed p.Q2583H 1.000 203 0% 201 31.8% 0 - benign(0.056) tolerated(0.15) neutral(0.244) HMMSmart_LamG,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_1 TAB2 23118 genome.wustl.edu 37 6 149699331 149699331 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_015093.4 +1 reviewed p.G94* 1.000 119 0% 383 26.4% 1 0% - - - NULL MTRF1L 54516 genome.wustl.edu 37 6 153316347 153316347 + Missense_Mutation SNP T T C novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_019041.5 -1 validated p.I149M 0.987 110 0% 256 23.8% 5 60% benign(0) tolerated(0.39) neutral(0.016) HMMPfam_PCRF,superfamily_Release factor (Pfam 00472) RSPH10B2 728194 genome.wustl.edu 37 7 6838057 6838057 + Silent SNP A A G novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_001099697.1 +1 provisional p.T832 0.002 575 0% 628 22.8% 3 33.3% - - - NULL POU6F2 11281 genome.wustl.edu 37 7 39379596 39379596 + Silent SNP G G A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_007252.3 +1 reviewed p.T289 0.983 292 0% 152 28.9% 0 - - - - NULL ENSG00000249078 0 genome.wustl.edu 37 7 39894635 39894635 + RNA SNP C C A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a ENST00000507268 +1 known NULL 0.423 87 0% 191 11% 0 - - - - - PKD1L1 168507 genome.wustl.edu 37 7 47870859 47870859 + Silent SNP G G A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_138295.2 -1 reviewed p.T2143 0.000 80 0% 70 31.4% 0 - - - - NULL ELN 2006 genome.wustl.edu 37 7 73477974 73477974 + Missense_Mutation SNP G G A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_000501.2 +1 reviewed p.G648R 0.008 259 0% 157 26.8% 12 16.6% unknown(0) deleterious(0) - NULL GTF2IRD2 84163 genome.wustl.edu 37 7 74211478 74211478 + Silent SNP C C T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_173537.2 -1 validated p.L791 0.986 152 0% 190 20% 3 33.3% - - - NULL FBXO24 26261 genome.wustl.edu 37 7 100189494 100189494 + Missense_Mutation SNP G G A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_033506.2 +1 reviewed p.R176H 1.000 70 0% 90 41.1% 0 - probably_damaging(0.995) tolerated(0.34) deleterious(0.481) NULL PPP1R3A 5506 genome.wustl.edu 37 7 113518928 113518928 + Missense_Mutation SNP G G A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_002711.3 -1 reviewed p.T740I 1.000 155 0% 346 28.6% 0 - possibly_damaging(0.937) deleterious(0) deleterious(0.828) NULL GCC1 79571 genome.wustl.edu 37 7 127222557 127222557 + Silent SNP A A G novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_024523.5 -1 reviewed p.S613 0.182 120 0% 57 21.1% 2 50% - - - NULL CPA5 93979 genome.wustl.edu 37 7 129986088 129986088 + Splice_Site DEL G G - rs139621108 byCluster;by1000genomes TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_001127441.1 +1 validated e0+2 0.002 - - - - - - - - - - TBXAS1 6916 genome.wustl.edu 37 7 139661818 139661818 + Missense_Mutation SNP C C T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_001061.4 +1 reviewed p.T308I 0.000 193 0% 138 44.2% 11 9% benign(0.001) deleterious(0.04) neutral(0.349) HMMPfam_p450,superfamily_Cytochrome P450 CNTNAP2 26047 genome.wustl.edu 37 7 146829371 146829371 + Missense_Mutation SNP C C T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_014141.5 +1 reviewed p.T373M 0.995 125 0% 230 30.4% 0 - probably_damaging(0.996) tolerated(0.22) deleterious(0.504) superfamily_Concanavalin A-like lectins/glucanases HMBOX1 79618 genome.wustl.edu 37 8 28908596 28908596 + Missense_Mutation SNP C C T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_001135726.1 +1 validated p.A396V 1.000 224 0% 407 14.5% 0 - probably_damaging(0.989) deleterious(0.01) deleterious(0.845) NULL PLAT 5327 genome.wustl.edu 37 8 42038072 42038072 + Missense_Mutation SNP G G T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_000930.3 -1 reviewed p.L341M 0.874 65 0% 40 32.5% 7 0% possibly_damaging(0.83) deleterious(0.04) deleterious(0.664) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases POLB 5423 genome.wustl.edu 37 8 42196187 42196187 + Silent SNP C C T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_002690.1 +1 provisional p.I15 1.000 53 0% 61 24.6% 1 0% - - - HMMSmart_POLXc,superfamily_DNApol_B_N_like SLC20A2 6575 genome.wustl.edu 37 8 42287686 42287686 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_006749.3 -1 provisional p.W535* 1.000 100 0% 51 29.4% 0 - - - - HMMPfam_PHO4 TRPA1 8989 genome.wustl.edu 37 8 72946576 72946576 + Missense_Mutation SNP C C A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_007332.2 -1 reviewed p.E864D 0.998 41 0% 324 11.7% 0 - benign(0.085) tolerated(0.23) neutral(0.048) HMMPfam_Ion_trans TMEM67 91147 genome.wustl.edu 37 8 94800076 94800076 + Missense_Mutation SNP C C T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_153704.5 +1 reviewed p.H473Y 0.101 198 0% 426 30.5% 3 0% unknown(0) tolerated(0.11) - HMMPfam_Meckelin UBR5 51366 genome.wustl.edu 37 8 103284802 103284802 + Missense_Mutation SNP G G A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_015902.4 -1 reviewed p.P2310S 1.000 203 0% 337 24.3% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) superfamily_HECT MTSS1 9788 genome.wustl.edu 37 8 125580658 125580658 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_014751.4 -1 validated p.R194* 1.000 89 0% 133 22.6% 1 100% - - - HMMPfam_IMD KANK1 23189 genome.wustl.edu 37 9 738311 738311 + Silent SNP C C T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_015158.2 +1 reviewed p.H1120 0.983 132 0.8% 98 25.5% 0 - - - - superfamily_ANK IFNA14 3448 genome.wustl.edu 37 9 21239377 21239377 + Silent SNP C C T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_002172.2 -1 validated p.R186 0.000 285 0% 539 28.4% 0 - - - - HMMPfam_Interferon,superfamily_4_helix_cytokine C9orf72 203228 genome.wustl.edu 37 9 27560281 27560291 + Frame_Shift_Del DEL AGTGTGAGCTG AGTGTGAGCTG - rs147034723 by1000genomes TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 AGTGTGAGCTG AGTGTGAGCTG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_018325.2 -1 validated p.S225fs 1.000:1.000:1.000:1.000:0.990:1.000:1.000:1.000:1.000:1.000:1.000 - - - - - - - - - NULL TMEM215 401498 genome.wustl.edu 37 9 32784431 32784431 + Missense_Mutation SNP C C T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_212558.2 +1 validated p.R84W 0.999 61 0% 51 21.6% 0 - probably_damaging(0.966) deleterious(0) deleterious(0.853) NULL CCIN 881 genome.wustl.edu 37 9 36170340 36170340 + Missense_Mutation SNP G G A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_005893.2 +1 reviewed p.V281M 0.987 26 0% 25 28% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMSmart_SM00612,superfamily_Galactose oxidase central domain PAX5 5079 genome.wustl.edu 37 9 36840595 36840595 + Missense_Mutation SNP C C T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_016734.1 -1 reviewed p.A380T 0.999 65 0% 45 26.7% 1 0% unknown(0) deleterious(0.01) - NULL PAX5 5079 genome.wustl.edu 37 9 36966555 36966555 + Missense_Mutation SNP C C G novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_016734.1 -1 reviewed p.K257N 1.000 240 0% 46 32.6% 0 - benign(0.304) deleterious(0) deleterious(0.539) NULL PRUNE2 158471 genome.wustl.edu 37 9 79461497 79461497 + Missense_Mutation SNP C C T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_015225.2 -1 validated p.V148M 1.000 108 0% 144 34% 0 - probably_damaging(0.999) tolerated(0.07) deleterious(0.809) superfamily_SSF64182 NAA35 60560 genome.wustl.edu 37 9 88628663 88628663 + Silent SNP C C G novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_024635.3 +1 validated p.T473 0.992 134 0% 132 34.1% 5 60% - - - NULL FAM22F 54754 genome.wustl.edu 37 9 97087950 97087950 + Missense_Mutation SNP G G T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_017561.1 -1 validated p.P95T 0.001 52 0% 21 23.8% 0 - benign(0.045) tolerated(0.4) neutral(0.018) NULL ANKS6 203286 genome.wustl.edu 37 9 101546299 101546299 + Missense_Mutation SNP C C T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_173551.3 -1 provisional p.A350T 0.988 72 0% 41 41.5% 9 77.7% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat TTLL11 158135 genome.wustl.edu 37 9 124736324 124736324 + Missense_Mutation SNP C C T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_001139442.1 -1 validated p.R572H 1.000 145 0% 236 34.3% 0 - probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_TTL GAPVD1 26130 genome.wustl.edu 37 9 128094339 128094339 + Missense_Mutation SNP G G A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_015635.2 +1 validated p.G770S 1.000 115 0% 167 24.6% 0 - probably_damaging(0.999) tolerated(0.21) deleterious(0.534) NULL ENG 2022 genome.wustl.edu 37 9 130587079 130587079 + Missense_Mutation SNP C C T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_001114753.1 -1 reviewed p.G331S 0.914 76 0% 31 19.4% 44 0% probably_damaging(0.998) tolerated(0.17) deleterious(0.533) NULL CELF2 10659 genome.wustl.edu 37 10 11299756 11299756 + Silent SNP C C T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_006561.3 +1 reviewed p.N153 1.000 169 0% 131 31.3% 2 0% - - - HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD PARD3 56288 genome.wustl.edu 37 10 34648198 34648198 + Missense_Mutation SNP T T A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_019619.3 -1 validated p.E648D 1.000 257 0% 496 27.2% 6 50% benign(0.003) tolerated(0.15) neutral(0.241) HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like KAT6B 23522 genome.wustl.edu 37 10 76788343 76788343 + Missense_Mutation SNP G G A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_012330.2 +1 validated p.R1254H 0.876 88 0% 240 30.4% 0 - benign(0.074) deleterious(0) neutral(0.450) NULL PTEN 5728 genome.wustl.edu 37 10 89692905 89692905 + Missense_Mutation SNP G G A rs121913292 TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a ENST00000371953 +1 known p.R130Q 1.000 180 0% 305 43.3% 19 52.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DSPc,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II MYOF 26509 genome.wustl.edu 37 10 95115443 95115443 + Silent SNP C C T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_013451.3 -1 reviewed p.K1115 0.987 136 0% 165 30.3% 4 25% - - - superfamily_C2 domain (Calcium/lipid-binding domain CaLB) PLCE1 51196 genome.wustl.edu 37 10 95930957 95930957 + Missense_Mutation SNP G G A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_016341.3 +1 reviewed p.V505M 1.000 107 0% 181 30.9% 0 - benign(0) tolerated(1) - superfamily_Ras GEF PPRC1 23082 genome.wustl.edu 37 10 103899009 103899009 + Silent SNP A A G novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_015062.3 +1 reviewed p.E248 0.311 112 0% 90 32.2% 0 - - - - NULL TRIM8 81603 genome.wustl.edu 37 10 104416807 104416807 + Missense_Mutation SNP C C G novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_030912.2 +1 validated p.A451G 1.000 23 0% 20 50% 43 34.8% benign(0.029) deleterious(0) neutral(0.446) NULL PNLIPRP2 5408 genome.wustl.edu 37 10 118386478 118386478 + Missense_Mutation SNP C C T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_005396.4 +1 validated p.R146W 0.991 237 0% 143 23.1% 0 - probably_damaging(0.962) deleterious(0.03) deleterious(0.770) NULL DOCK1 1793 genome.wustl.edu 37 10 128788756 128788756 + Missense_Mutation SNP T T C novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a ENST00000398025 +1 known p.M121T 1.000 221 0% 339 27.4% 0 - possibly_damaging(0.935) tolerated(0.11) deleterious(0.652) NULL OR10A5 144124 genome.wustl.edu 37 11 6867852 6867852 + Silent SNP A A G novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_178168.1 +1 provisional p.R313 0.939 65 0% 60 25% 0 - - - - NULL TUB 7275 genome.wustl.edu 37 11 8115602 8115602 + Missense_Mutation SNP C C T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_003320.4 +1 reviewed p.A143V 1.000 98 0% 32 21.9% 0 - benign(0.008) tolerated(0.05) neutral(0.345) NULL STK33 65975 genome.wustl.edu 37 11 8494768 8494768 + Missense_Mutation SNP C C T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_030906.2 -1 validated p.G94D 0.007 186 0% 304 19.7% 3 100% benign(0.06) deleterious(0.02) neutral(0.387) superfamily_Protein kinase-like (PK-like) GALNTL4 374378 genome.wustl.edu 37 11 11354297 11354297 + Frame_Shift_Del DEL G G - novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_198516.2 -1 validated p.L454fs 1.000 - - - - - - - - - superfamily_Nucleotide-diphospho-sugar transferases FIBIN 387758 genome.wustl.edu 37 11 27016595 27016595 + Missense_Mutation SNP G G T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_203371.1 +1 validated p.K174N 1.000 73 0% 56 21.4% 0 - possibly_damaging(0.733) deleterious(0.02) deleterious(0.651) NULL PHF21A 51317 genome.wustl.edu 37 11 45987009 45987009 + Missense_Mutation SNP C C T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_001101802.1 -1 validated p.V284I 1.000 248 0% 434 27% 1 0% probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL OR10Q1 219960 genome.wustl.edu 37 11 57995923 57995923 + Missense_Mutation SNP C C T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_001004471.2 -1 validated p.R142H 0.000 105 0% 130 28.5% 0 - possibly_damaging(0.888) tolerated(0.31) neutral(0.374) HMMPfam_7tm_1,superfamily_SSF81321 PLCB3 5331 genome.wustl.edu 37 11 64031499 64031499 + Missense_Mutation SNP C C T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_000932.2 +1 reviewed p.A856V 0.999 73 0% 24 20.8% 4 0% possibly_damaging(0.6) tolerated(0.88) neutral(0.207) NULL RBM14 10432 genome.wustl.edu 37 11 66393038 66393038 + Missense_Mutation SNP G G A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_006328.3 +1 validated p.G564E 1.000 35 0% 16 43.8% 17 58.8% unknown(0) deleterious(0.01) - NULL POLD3 10714 genome.wustl.edu 37 11 74329633 74329633 + Silent SNP C C A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_006591.1 +1 validated p.S148 0.090 113 0% 179 12.8% 2 0% - - - HMMPfam_CDC27 CNTN5 53942 genome.wustl.edu 37 11 99932018 99932018 + Missense_Mutation SNP C C T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_014361.2 +1 reviewed p.A352V 0.980 138 0% 192 34.9% 0 - possibly_damaging(0.919) deleterious(0.02) deleterious(0.752) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin SIK3 23387 genome.wustl.edu 37 11 116729114 116729114 + Missense_Mutation SNP G G A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_025164.3 -1 validated p.P917S 1.000 309 0% 156 12.2% 4 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PCSK7 9159 genome.wustl.edu 37 11 117095427 117095427 + Missense_Mutation SNP T T C novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_004716.2 -1 reviewed p.Q302R 1.000 154 0% 65 21.5% 3 0% possibly_damaging(0.926) tolerated(0.63) neutral(0.378) HMMPfam_Peptidase_S8,superfamily_Pept_S8_S53 EFCAB4B 84766 genome.wustl.edu 37 12 3736873 3736873 + Splice_Site SNP C C A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_001144958.1 -1 validated e13-1 1.000 119 0% 44 25% 0 - - - - - C1R 715 genome.wustl.edu 37 12 7188477 7188477 + Missense_Mutation SNP C C A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a ENST00000290575 -1 known p.G507C 0.995 79 0% 61 23% 87 18.3% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases CD163 9332 genome.wustl.edu 37 12 7647795 7647795 + Missense_Mutation SNP G G C novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_004244.4 -1 validated p.N434K 0.001 299 0.3% 397 33.8% 4 0% benign(0.121) tolerated(0.16) neutral(0.069) HMMPfam_SRCR,HMMSmart_SM00202,superfamily_SRCR-like PDE3A 5139 genome.wustl.edu 37 12 20523070 20523070 + Silent SNP G G A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_000921.3 +1 validated p.P284 0.999 14 0.000 7 0.571 0 - - - - NULL LDHB 3945 genome.wustl.edu 37 12 21797024 21797024 + Missense_Mutation SNP T T C novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_002300.6 -1 reviewed p.N89S 1.000 87 0% 69 21.7% 275 36.7% benign(0.189) deleterious(0.03) neutral(0.382) HMMPfam_Ldh_1_N,superfamily_NAD(P)-binding Rossmann-fold domains TUBA1A 7846 genome.wustl.edu 37 12 49579083 49579083 + Missense_Mutation SNP T T A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_006009.2 -1 reviewed p.N356Y 1.000 152 0.7% 147 32.7% 1061 22.7% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Tubulin C-terminal domain-like,HMMPfam_Tubulin_C TUBA1C 84790 genome.wustl.edu 37 12 49666705 49666705 + Missense_Mutation SNP A A G novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_032704.3 +1 provisional p.T349A 1.000 136 0% 123 28.5% 589 48.5% benign(0.296) deleterious(0) deleterious(0.536) superfamily_Tub_FtsZ_C,HMMPfam_Tubulin_C KRT81 3887 genome.wustl.edu 37 12 52681499 52681499 + Missense_Mutation SNP C C T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_002281.3 -1 reviewed p.E303K 1.000 252 0% 130 26.2% 1 0% probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_Filament STAT6 6778 genome.wustl.edu 37 12 57500011 57500011 + Missense_Mutation SNP C C T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_003153.4 -1 reviewed p.A215T 0.605 95 0% 60 45% 1 0% benign(0) tolerated(0.37) neutral(0.019) HMMPfam_STAT_alpha,superfamily_STAT PTPRB 5787 genome.wustl.edu 37 12 71029613 71029613 + Missense_Mutation SNP C C T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_001109754.1 -1 reviewed p.D97N 0.950 137 0% 210 12.9% 0 - benign(0.008) tolerated(0.11) neutral(0.272) superfamily_Ricin B-like lectins MYF5 4617 genome.wustl.edu 37 12 81111315 81111315 + Missense_Mutation SNP G G T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_005593.2 +1 validated p.S158I 1.000 52 0% 36 27.8% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_HLH_basic C12orf12 196477 genome.wustl.edu 37 12 91347791 91347791 + Silent SNP G G T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_152638.2 -1 predicted p.T243 0.013 224 0% 115 25.2% 0 - - - - NULL ANKRD13A 88455 genome.wustl.edu 37 12 110449906 110449906 + Missense_Mutation SNP G G A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_033121.1 +1 validated p.A65T 1.000 124 0.8% 190 25.8% 1 100% possibly_damaging(0.943) tolerated(0.06) deleterious(0.710) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat HIP1R 9026 genome.wustl.edu 37 12 123341055 123341055 + Missense_Mutation SNP C C T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_003959.1 +1 validated p.A493V 1.000 167 0% 34 23.5% 9 11.1% benign(0.003) tolerated(0.07) neutral(0.319) NULL MPHOSPH9 10198 genome.wustl.edu 37 12 123645772 123645772 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_022782.2 -1 validated p.Q946* 0.003 134 0% 169 27.2% 4 0% - - - NULL EP400 57634 genome.wustl.edu 37 12 132512732 132512732 + Silent SNP G G A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_015409.3 +1 validated p.E1759 0.975 157 0% 58 29.3% 1 100% - - - NULL DIS3 22894 genome.wustl.edu 37 13 73336070 73336070 + Missense_Mutation SNP G G T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_014953.3 -1 validated p.P778H 1.000 69 0% 157 25.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RNB,PatternScan_RIBONUCLEASE_II OR4K13 390433 genome.wustl.edu 37 14 20502592 20502592 + Missense_Mutation SNP C C T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_001004714.1 -1 provisional p.G109E 0.001 77 0% 186 27.4% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_7tm_1,superfamily_SSF81321 OR10G2 26534 genome.wustl.edu 37 14 22102389 22102389 + Missense_Mutation SNP T T C novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_001005466.1 -1 validated p.T204A 0.999 145 0% 132 29.5% 0 - possibly_damaging(0.936) deleterious(0.01) deleterious(0.787) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like BAZ1A 11177 genome.wustl.edu 37 14 35272178 35272178 + Missense_Mutation SNP G G A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_013448.2 -1 validated p.T248M 1.000 176 0% 246 11.8% 0 - probably_damaging(0.982) deleterious(0.04) deleterious(0.775) NULL PNN 5411 genome.wustl.edu 37 14 39650749 39650749 + Silent SNP T T C novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_002687.3 +1 validated p.S612 0.942 257 0% 335 31.3% 13 7.6% - - - NULL MAX 4149 genome.wustl.edu 37 14 65560514 65560514 + Missense_Mutation SNP T T C novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_002382.3 -1 reviewed p.H28R 1.000 246 0% 287 28.2% 29 34.4% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_HLH,superfamily_HLH helix-loop-helix DNA-binding domain MLH3 27030 genome.wustl.edu 37 14 75513702 75513703 + Frame_Shift_Del DEL TC TC - novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 TC TC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_001040108.1 -1 reviewed p.E886fs 0.807:0.851 - - - - - - - - - NULL TTC7B 145567 genome.wustl.edu 37 14 91123605 91123605 + Missense_Mutation SNP C C A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_001010854.1 -1 provisional p.K418N 1.000 130 0% 70 32.9% 3 0% benign(0.424) tolerated(0.36) neutral(0.158) HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like ZFYVE21 79038 genome.wustl.edu 37 14 104195253 104195253 + Missense_Mutation SNP T T A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_024071.2 +1 provisional p.F123I 1.000 160 0% 55 27.3% 27 44.4% probably_damaging(1) deleterious(0) deleterious(0.945) NULL IGHG3 3502 genome.wustl.edu 37 14 106237717 106237717 + Missense_Mutation SNP G G T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a ENST00000390550 -1 known p.S9Y 0.997 126 0% 216 25.5% 31 0% possibly_damaging(0.881) deleterious(0.01) deleterious(0.749) superfamily_Immunoglobulin GJD2 57369 genome.wustl.edu 37 15 35044792 35044792 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_020660.1 -1 provisional p.R285* 1.000 153 0% 80 28.7% 0 - - - - NULL ITGA11 22801 genome.wustl.edu 37 15 68643629 68643629 + Silent SNP G G A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_001004439.1 -1 reviewed p.S287 0.996 381 0% 205 26.3% 1 0% - - - HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like,superfamily_Integrin alpha N-terminal domain PKM2 5315 genome.wustl.edu 37 15 72492940 72492940 + Missense_Mutation SNP C C T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_002654.3 -1 reviewed p.R455Q 1.000 79 0% 24 25% 1226 45.2% probably_damaging(0.998) deleterious(0.02) deleterious(0.857) HMMPfam_PK_C,superfamily_PK C-terminal domain-like SEMA7A 8482 genome.wustl.edu 37 15 74707019 74707019 + Missense_Mutation SNP G G A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_003612.3 -1 reviewed p.A388V 0.014 112 0% 37 13.5% 0 - benign(0.001) tolerated(0.62) neutral(0.004) HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema SGK269 79834 genome.wustl.edu 37 15 77407169 77407169 + Missense_Mutation SNP G G A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_024776.2 -1 validated p.L1524F 1.000 62 0% 75 30.7% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like ALPK3 57538 genome.wustl.edu 37 15 85405913 85405913 + Missense_Mutation SNP G G A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_020778.4 +1 validated p.A1595T 1.000 112 0% 122 15.6% 2 50% probably_damaging(0.969) deleterious(0.01) deleterious(0.817) HMMPfam_Alpha_kinase,superfamily_Protein kinase-like (PK-like) IFT140 9742 genome.wustl.edu 37 16 1573848 1573848 + Missense_Mutation SNP G G T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_014714.3 -1 validated p.A1084E 1.000 107 0% 26 38.5% 11 81.8% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_TPR-like SRRM2 23524 genome.wustl.edu 37 16 2816392 2816392 + Missense_Mutation SNP C C T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_016333.3 +1 validated p.R1955C 0.975 45 0% 60 28.3% 6 33.3% unknown(0) - - NULL PRSS41 360226 genome.wustl.edu 37 16 2849425 2849425 + Silent SNP C C A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_001135086.1 +1 provisional p.R145 0.048 219 0% 76 32.9% 0 - - - - HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys ABCC6P1 653190 genome.wustl.edu 37 16 18591616 18591616 + RNA SNP G G T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NR_003569.1 +1 provisional NULL 0.936 113 0% 137 8.8% 0 - benign(0.103) tolerated(0.83) neutral(0.009) - ACSM3 6296 genome.wustl.edu 37 16 20796428 20796428 + Missense_Mutation SNP C C T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_005622.3 +1 validated p.T381M 1.000 89 0% 133 27.1% 36 38.8% probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like METTL9 51108 genome.wustl.edu 37 16 21666672 21666672 + Silent SNP A A G novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_016025.3 +1 validated p.R292 0.999 152 0% 256 32.4% 125 40% - - - HMMPfam_DREV,superfamily_S-adenosyl-L-methionine-dependent methyltransferases USP31 57478 genome.wustl.edu 37 16 23119456 23119456 + Missense_Mutation SNP C C T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_020718.3 -1 validated p.D228N 1.000 166 0% 105 30.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_UCH,superfamily_Cysteine proteinases ZKSCAN2 342357 genome.wustl.edu 37 16 25251498 25251500 + In_Frame_Del DEL ATA ATA - novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 ATA ATA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_001012981.4 -1 validated p.I848in_frame_del 0.874:0.784:0.000 - - - - - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ENSG00000196347 0 genome.wustl.edu 37 16 28711619 28711619 + Missense_Mutation SNP G G A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a ENST00000357418 -1 known p.R194C 0.741 49 0% 33 27.3% 0 - - - - NULL ASPHD1 253982 genome.wustl.edu 37 16 29912897 29912897 + Missense_Mutation SNP C C T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_181718.3 +1 validated p.P202L 1.000 68 0% 36 25% 1 0% probably_damaging(0.969) deleterious(0.01) deleterious(0.817) NULL FAM65A 79567 genome.wustl.edu 37 16 67575992 67575992 + Missense_Mutation SNP C C A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_024519.2 +1 validated p.P435T 0.980 44 0% 54 29.6% 4 0% probably_damaging(0.982) deleterious(0) deleterious(0.871) NULL ENSG00000248612 0 genome.wustl.edu 37 16 84495583 84495583 + RNA SNP T T A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a ENST00000508094 -1 known NULL 0.000 155 0% 77 29.9% 0 - - - - - TUBB3 10381 genome.wustl.edu 37 16 90001763 90001763 + Missense_Mutation SNP G G A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_006086.2 +1 validated p.A302T 1.000 101 0% 27 18.5% 75 36% possibly_damaging(0.685) deleterious(0) deleterious(0.689) superfamily_Tubulin C-terminal domain-like,HMMPfam_Tubulin_C ABR 29 genome.wustl.edu 37 17 973313 973313 + Missense_Mutation SNP C C A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_021962.2 -1 reviewed p.K304N 1.000 57 0% 25 28% 0 - probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like GSG2 83903 genome.wustl.edu 37 17 3629017 3629017 + Silent SNP C C T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_031965.2 +1 validated p.D596 0.093 134 0% 146 23.3% 0 - - - - HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) C17orf74 201243 genome.wustl.edu 37 17 7330550 7330550 + Missense_Mutation SNP C C T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_175734.4 +1 validated p.R414W 0.000 116 0% 53 35.8% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL WRAP53 55135 genome.wustl.edu 37 17 7606399 7606399 + Missense_Mutation SNP C C T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_018081.2 +1 validated p.P453S 0.864 60 0% 55 40% 78 28.2% probably_damaging(0.969) tolerated(0.58) neutral(0.416) superfamily_WD40_like FLII 2314 genome.wustl.edu 37 17 18150566 18150566 + Missense_Mutation SNP G G A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_002018.2 -1 reviewed p.R865C 1.000 41 0% 16 31.2% 24 29.1% probably_damaging(0.959) deleterious(0.01) deleterious(0.808) NULL FZD2 2535 genome.wustl.edu 37 17 42635354 42635354 + Missense_Mutation SNP T T C novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_001466.2 +1 reviewed p.C100R 1.000 68 0% 28 21.4% 5 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Frizzled_Cys-rich,HMMPfam_Fz,HMMSmart_FRI UBE2Z 65264 genome.wustl.edu 37 17 47000242 47000242 + Silent SNP C C T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_023079.3 +1 validated p.Y279 0.982 197 0% 206 32.5% 3 0% - - - NULL COL1A1 1277 genome.wustl.edu 37 17 48267071 48267071 + Missense_Mutation SNP G G A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_000088.3 -1 reviewed p.A879V 1.000 119 0% 48 27.1% 86 1.1% unknown(0) deleterious(0.04) - HMMPfam_Collagen LUC7L3 51747 genome.wustl.edu 37 17 48823115 48823115 + Missense_Mutation SNP G G A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_006107.3 +1 reviewed p.R243H 1.000 82 0% 233 33.9% 19 42.1% unknown(0) deleterious(0.01) - HMMPfam_LUC7 AKAP1 8165 genome.wustl.edu 37 17 55182885 55182885 + Silent SNP C C T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_003488.3 +1 reviewed p.L20 0.353 172 0% 54 42.6% 1 0% - - - NULL TEX14 56155 genome.wustl.edu 37 17 56694953 56694953 + Silent SNP C C T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_198393.2 -1 reviewed p.L194 0.007 85 0% 135 32.6% 0 - - - - NULL DHX40 79665 genome.wustl.edu 37 17 57676190 57676190 + Missense_Mutation SNP A A G novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_024612.4 +1 reviewed p.I559V 0.990 197 0% 373 23.3% 5 20% benign(0) tolerated(1) - NULL LRRC37A3 374819 genome.wustl.edu 37 17 62856332 62856332 + Missense_Mutation SNP C C T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_199340.2 -1 provisional p.R1311H 0.002 406 0% 711 29.4% 1 0% possibly_damaging(0.865) deleterious(0) deleterious(0.780) NULL AXIN2 8313 genome.wustl.edu 37 17 63554382 63554382 + Missense_Mutation SNP C C A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_004655.3 -1 reviewed p.Q119H 1.000 268 0% 150 29.3% 0 - probably_damaging(0.998) deleterious(0.02) deleterious(0.857) HMMPfam_RGS,HMMSmart_SM00315,superfamily_Regulator of G-protein signaling RGS EVPL 2125 genome.wustl.edu 37 17 74007958 74007958 + Silent SNP A A G novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_001988.2 -1 validated p.Y821 0.997 71 0% 67 29.9% 6 66.6% - - - superfamily_Spectrin repeat CDH2 1000 genome.wustl.edu 37 18 25565014 25565014 + Missense_Mutation SNP A A T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_001792.3 -1 reviewed p.L720H 1.000 142 0% 152 35.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL NARS 4677 genome.wustl.edu 37 18 55282946 55282946 + Missense_Mutation SNP C C T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_004539.3 -1 validated p.R90Q 0.973 401 0% 738 26.7% 10 50% benign(0.301) tolerated(0.37) neutral(0.112) NULL SEC11C 90701 genome.wustl.edu 37 18 56823019 56823019 + Silent SNP C C T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_033280.2 +1 provisional p.D149 0.876 124 0% 343 27.1% 147 35.3% - - - superfamily_LexA/Signal peptidase CPLX4 339302 genome.wustl.edu 37 18 56985553 56985553 + Missense_Mutation SNP A A G novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_181654.3 -1 reviewed p.Y48H 1.000 304 0% 695 25.2% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL STAP2 55620 genome.wustl.edu 37 19 4327200 4327200 + Silent SNP G G A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_017720.2 -1 reviewed p.A228 0.001 129 0% 140 26.4% 105 41.9% - - - superfamily_SH2 domain VAV1 7409 genome.wustl.edu 37 19 6828647 6828647 + Silent SNP C C T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_005428.2 +1 reviewed p.C369 0.994 62 0% 58 25.9% 3 0% - - - HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_DH-domain EMR1 2015 genome.wustl.edu 37 19 6926594 6926594 + Missense_Mutation SNP G G A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_001974.3 +1 reviewed p.G735D 0.910 236 0.4% 357 12% 1 0% probably_damaging(0.97) tolerated(0.83) neutral(0.413) HMMPfam_7tm_2,superfamily_Family A G protein-coupled receptor-like SMARCA4 6597 genome.wustl.edu 37 19 11106978 11106978 + Silent SNP G G T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_001128849.1 +1 reviewed p.V561 1.000 100 0% 168 36.3% 9 11.1% - - - superfamily_SSF52540 MAST1 22983 genome.wustl.edu 37 19 12984586 12984586 + Silent SNP G G A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_014975.2 +1 validated p.S1205 0.777 22 0% 21 38.1% 0 - - - - NULL ENSG00000225607 0 genome.wustl.edu 37 19 15882852 15882852 + Missense_Mutation SNP C C A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a ENST00000412610 -1 known p.C166F 1.000 150 0% 73 28.8% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_p450,superfamily_Cytochrome P450 TPM4 7171 genome.wustl.edu 37 19 16178515 16178515 + Silent SNP G G A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_001145160.1 +1 reviewed p.A27 0.219 131 0% 198 29.3% 0 - - - - NULL FAM125A 93343 genome.wustl.edu 37 19 17531144 17531144 + Missense_Mutation SNP C C A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_138401.2 +1 provisional p.A38E 0.793 43 0% 29 41.4% 11 18.1% benign(0.091) tolerated(0.5) neutral(0.017) HMMPfam_DUF2464 GGN 199720 genome.wustl.edu 37 19 38876836 38876836 + Missense_Mutation SNP C C T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_152657.3 -1 reviewed p.A356T 0.701 25 0% 23 17.4% 0 - possibly_damaging(0.484) tolerated(0.06) deleterious(0.483) NULL ZNF649 65251 genome.wustl.edu 37 19 52394505 52394505 + Missense_Mutation SNP C C T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_023074.3 -1 validated p.C295Y 1.000 250 0.4% 333 27.9% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 LILRB2 10288 genome.wustl.edu 37 19 54783330 54783330 + Silent SNP C C T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_005874.3 -1 reviewed p.S176 0.000 280 0% 122 22.1% 1 0% - - - HMMPfam_ig,superfamily_Immunoglobulin ZSCAN18 65982 genome.wustl.edu 37 19 58596336 58596336 + Missense_Mutation SNP C C T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_001145542.1 -1 validated p.E473K 0.072 38 0.000 7 0.714 17 52.9% probably_damaging(0.967) deleterious(0.05) deleterious(0.754) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 PCNA 5111 genome.wustl.edu 37 20 5100391 5100391 + Silent SNP T T C novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_002592.2 -1 reviewed p.A18 0.000 66 0% 36 27.8% 23 30.4% - - - HMMPfam_PCNA_N,superfamily_DNA clamp BMP2 650 genome.wustl.edu 37 20 6750798 6750798 + Silent SNP C C T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_001200.2 +1 reviewed p.L9 1.000 39 0% 11 36.4% 0 - - - - NULL RIN2 54453 genome.wustl.edu 37 20 19870220 19870220 + Missense_Mutation SNP C C T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a ENST00000255006 +1 known p.A41V 0.000 55 0% 74 32.4% 2 50% benign(0.367) deleterious(0) deleterious(0.561) NULL NANP 140838 genome.wustl.edu 37 20 25596776 25596776 + Missense_Mutation SNP C C T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_152667.2 -1 validated p.G178R 0.731 142 0% 176 12.5% 2 0% benign(0.37) tolerated(0.07) neutral(0.436) HMMPfam_Hydrolase,superfamily_HAD-like PPP1R16B 26051 genome.wustl.edu 37 20 37546819 37546819 + Missense_Mutation SNP C C A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_015568.2 +1 reviewed p.P405H 0.983 58 0% 32 34.4% 0 - possibly_damaging(0.46) tolerated(0.13) neutral(0.403) NULL TIAM1 7074 genome.wustl.edu 37 21 32519250 32519250 + Silent SNP G G A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_003253.2 -1 validated p.C1146 0.957 177 0% 234 26.5% 0 - - - - HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_DH-domain TTC3 7267 genome.wustl.edu 37 21 38538385 38538385 + Missense_Mutation SNP G G A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_001001894.1 +1 validated p.R1290Q 0.000 62 0% 76 34.2% 1 0% benign(0) tolerated(0.16) neutral(0.059) superfamily_Spectrin,superfamily_SSF48452 TTC3 7267 genome.wustl.edu 37 21 38573792 38573792 + Missense_Mutation SNP C C T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_001001894.1 +1 validated p.R1999C 0.000 51 0% 48 10.4% 24 25% benign(0) tolerated(0.05) neutral(0.345) NULL BACE2 25825 genome.wustl.edu 37 21 42613751 42613751 + Silent SNP A A C novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_012105.3 +1 reviewed p.S208 0.715 150 0% 141 28.4% 23 43.4% - - - HMMPfam_Asp,superfamily_Acid proteases SLC7A4 6545 genome.wustl.edu 37 22 21385999 21385999 + Missense_Mutation SNP G G A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_004173.2 -1 validated p.R35C 0.994 39 0% 14 28.6% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL PPM1F 9647 genome.wustl.edu 37 22 22280024 22280024 + Silent SNP C C T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_014634.2 -1 reviewed p.A301 0.993 59 0% 14 50% 4 0% - - - HMMSmart_PP2C_SIG,HMMSmart_PP2Cc,superfamily_PP2C-related,HMMPfam_PP2C SF3A1 10291 genome.wustl.edu 37 22 30742337 30742337 + Silent SNP C C T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_005877.4 -1 reviewed p.Q119 1.000 153 0% 124 37.1% 6 0% - - - NULL MTFP1 51537 genome.wustl.edu 37 22 30823266 30823266 + Missense_Mutation SNP C C T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_016498.3 +1 validated p.R102C 1.000 127 0% 35 22.9% 39 38.4% probably_damaging(1) deleterious(0.05) deleterious(0.845) HMMPfam_MTP18 NCF4 4689 genome.wustl.edu 37 22 37272100 37272100 + Missense_Mutation SNP G G A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_013416.3 +1 validated p.A345T 1.000 79 0% 104 17.3% 21 0% possibly_damaging(0.568) deleterious(0) deleterious(0.639) NULL MEI1 150365 genome.wustl.edu 37 22 42141067 42141067 + Missense_Mutation SNP A A G novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_152513.3 +1 validated p.R513G 1.000 129 0% 106 33% 0 - probably_damaging(0.995) tolerated(0.17) deleterious(0.516) superfamily_ARM repeat MCAT 27349 genome.wustl.edu 37 22 43529407 43529407 + Missense_Mutation SNP C C T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_173467.4 -1 reviewed p.R272H 0.986 83 0% 44 27.3% 47 46.8% probably_damaging(0.955) tolerated(0.1) deleterious(0.685) HMMPfam_Acyl_transf_1,superfamily_FabD/lysophospholipase-like XG 7499 genome.wustl.edu 37 X 2712609 2712609 + Missense_Mutation SNP G G A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_001141919.1 +1 reviewed p.R96H 0.127 78 0% 38 34.2% 18 11.1% possibly_damaging(0.923) deleterious(0) deleterious(0.817) NULL SH3KBP1 30011 genome.wustl.edu 37 X 19725011 19725011 + Missense_Mutation SNP C C A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_031892.2 -1 reviewed p.E126D 1.000 139 0% 164 26.2% 4 0% probably_damaging(0.988) tolerated(0.67) neutral(0.440) HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain MAGEB6 158809 genome.wustl.edu 37 X 26212948 26212948 + Missense_Mutation SNP C C T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_173523.2 +1 reviewed p.R329W 0.000 377 0% 529 25.7% 0 - benign(0.397) deleterious(0.04) deleterious(0.476) HMMPfam_MAGE DMD 1756 genome.wustl.edu 37 X 32430325 32430325 + Missense_Mutation SNP A A G novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_004011.3 -1 reviewed p.M1T 0.000 126 0% 286 33.9% 0 - unknown(0) - - NULL CASK 8573 genome.wustl.edu 37 X 41419026 41419026 + Missense_Mutation SNP C C A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a ENST00000378154 -1 known p.M581I 0.954 160 0% 180 32.8% 0 - benign(0.014) tolerated(0.33) neutral(0.025) NULL PORCN 64840 genome.wustl.edu 37 X 48374136 48374136 + Silent SNP C C T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_203475.1 +1 reviewed p.T326 1.000 126 0% 139 35.3% 30 0% - - - HMMPfam_MBOAT PPP1R3F 89801 genome.wustl.edu 37 X 49127168 49127168 + Missense_Mutation SNP G G A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_033215.4 +1 reviewed p.R279H 0.933 27 0% 11 54.5% 6 50% probably_damaging(0.995) deleterious(0.02) deleterious(0.841) HMMPfam_CBM_21 SPIN2B 474343 genome.wustl.edu 37 X 57146627 57146627 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_001006681.1 -1 validated p.E146* 1.000 449 0% 834 25.4% 4 25% - - - HMMPfam_Spin-Ssty ZXDA 7789 genome.wustl.edu 37 X 57935854 57935854 + Missense_Mutation SNP G G A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_007156.4 -1 reviewed p.A334V 0.000 129 0% 60 23.3% 0 - benign(0) tolerated(1) - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 SNX12 29934 genome.wustl.edu 37 X 70280889 70280889 + Missense_Mutation SNP C C T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_013346.2 -1 reviewed p.V156I 1.000 201 0% 130 23.8% 9 0% benign(0) tolerated(0.33) neutral(0.024) NULL ZMYM3 9203 genome.wustl.edu 37 X 70468326 70468326 + Missense_Mutation SNP T T C novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_005096.3 -1 reviewed p.S596G 1.000 82 0% 81 32.1% 0 - benign(0.001) tolerated(0.24) neutral(0.037) HMMPfam_zf-FCS,HMMSmart_SM00746 TAF1 6872 genome.wustl.edu 37 X 70608189 70608189 + Missense_Mutation SNP C C T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_004606.3 +1 reviewed p.R864W 1.000 74 0% 169 34.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL DACH2 117154 genome.wustl.edu 37 X 85994753 85994753 + Missense_Mutation SNP C C T novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_053281.3 +1 reviewed p.R370W 0.994 198 0% 281 34.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL GPRASP2 114928 genome.wustl.edu 37 X 101970997 101970997 + Missense_Mutation SNP G G C novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_001004051.2 +1 reviewed p.E400D 0.772 105 0% 133 34.6% 0 - probably_damaging(0.991) deleterious(0.04) deleterious(0.793) NULL HTR2C 3358 genome.wustl.edu 37 X 114082591 114082591 + Silent SNP T T C novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_000868.2 +1 reviewed p.Y125 0.187 306 0% 698 32.1% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 RNF113A 7737 genome.wustl.edu 37 X 119005193 119005193 + Silent SNP G G A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_006978.2 -1 reviewed p.R128 0.598 199 0% 107 33.6% 13 0% - - - NULL RHOXF2 84528 genome.wustl.edu 37 X 119293163 119293163 + Missense_Mutation SNP G G A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_032498.1 +1 provisional p.D108N 0.000 176 0% 119 18.5% 0 - possibly_damaging(0.802) tolerated(0.56) neutral(0.308) NULL MAGEA3 4102 genome.wustl.edu 37 X 151935504 151935504 + Silent SNP G G A novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_005362.3 -1 reviewed p.I221 0.007 360 0% 256 30.5% 0 - - - - HMMPfam_MAGE ZNF185 7739 genome.wustl.edu 37 X 152128422 152128423 + Frame_Shift_Del DEL GA GA - novel TCGA-B5-A0K2-01A-12W-A10C-09 TCGA-B5-A0K2-10A-01D-A10B-09 GA GA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 405a4170-41af-40c8-9f3a-41169507c11a 858eace7-7a6a-4314-92c1-10a203f4858a NM_007150.3 +1 reviewed p.S531fs 0.000:0.000 - - - - - - - - - NULL