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 PUSL1 126789 genome.wustl.edu 37 1 1245114 1245116 + In_Frame_Del DEL ACG ACG - novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 ACG ACG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_153339.1 +1 provisional p.D177in_frame_del 0.645:0.628:0.734 - - - - - - - - - HMMPfam_PseudoU_synth_1,superfamily_Pseudouridine synthase PRDM16 63976 genome.wustl.edu 37 1 3334391 3334391 + Splice_Site SNP G G T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_022114.3 +1 reviewed e11-1 1.000 69 0% 50 10% 0 - - - - - ARHGEF16 27237 genome.wustl.edu 37 1 3386075 3386075 + Missense_Mutation SNP A A G novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_014448.3 +1 reviewed p.K314E 0.002 95 0% 86 26.7% 5 20% benign(0) tolerated(1) - HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) CHD5 26038 genome.wustl.edu 37 1 6219478 6219480 + In_Frame_Del DEL TTC TTC - novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 TTC TTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_015557.1 -1 provisional p.K102in_frame_del 1.000:1.000:1.000 - - - - - - - - - NULL RPL22 6146 ucsc.edu 37 1 6257785 6257785 + Frame_Shift_Del DEL T - - novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_000983.3 -1 reviewed p.K15fs 1 - - - - - - - - - HMMPfam_Ribosomal_L22e SLC45A1 50651 genome.wustl.edu 37 1 8385362 8385362 + Missense_Mutation SNP C C A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_001080397.1 +1 provisional p.F134L 1.000 335 0.3% 297 33.7% 0 - benign(0.114) tolerated(0.25) neutral(0.046) HMMPfam_MFS_1,superfamily_MFS general substrate transporter TMEM51 55092 genome.wustl.edu 37 1 15545972 15545972 + Silent SNP G G A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_001136216.1 +1 validated p.T165 0.043 90 0% 83 12% 16 18.7% - - - NULL RAP1GAP 5909 genome.wustl.edu 37 1 21936748 21936748 + Silent SNP G G A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_001145658.1 -1 validated p.I352 1.000 31 0% 38 18.4% 7 14.2% - - - HMMPfam_Rap_GAP,superfamily_Rap/Ran-GAP (Pfam 02145) STIL 6491 genome.wustl.edu 37 1 47761497 47761497 + Missense_Mutation SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_001048166.1 -1 reviewed p.R242H 1.000 244 0% 254 12.6% 0 - probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL TTC39A 22996 genome.wustl.edu 37 1 51778523 51778523 + Missense_Mutation SNP G G A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_001144832.1 -1 validated p.A84V 1.000 161 0% 161 13% 2 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Deme6 ZFYVE9 9372 genome.wustl.edu 37 1 52704103 52704103 + Silent SNP T T C novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_004799.2 +1 reviewed p.P338 0.965 90 0% 83 28.9% 1 100% - - - NULL SSX2IP 117178 genome.wustl.edu 37 1 85113146 85113146 + Silent SNP A A G novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_014021.3 -1 reviewed p.N605 0.000 300 0% 312 17.3% 10 30% - - - NULL EPHX4 253152 genome.wustl.edu 37 1 92518203 92518203 + Missense_Mutation SNP G G A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_173567.4 +1 validated p.R282Q 1.000 198 0.5% 148 59.5% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Abhydrolase_1,superfamily_SSF53474 LIX1L 128077 genome.wustl.edu 37 1 145497468 145497468 + Missense_Mutation SNP A A C novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_153713.1 +1 provisional p.K225Q 1.000 110 0% 113 35.4% 1 0% possibly_damaging(0.926) deleterious(0.01) deleterious(0.780) NULL FCGR1A 2209 genome.wustl.edu 37 1 149761868 149761868 + Missense_Mutation SNP G G A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_000566.3 +1 reviewed p.S273N 0.995 141 0% 137 22.6% 12 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00409,superfamily_Immunoglobulin BCAN 63827 genome.wustl.edu 37 1 156622041 156622041 + Missense_Mutation SNP A A T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_021948.3 +1 validated p.E433D 0.911 70 0% 93 20.4% 0 - possibly_damaging(0.902) tolerated(0.11) deleterious(0.629) NULL KIRREL 55243 genome.wustl.edu 37 1 158057861 158057861 + Missense_Mutation SNP A A G novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_018240.5 +1 validated p.Y278C 1.000 114 0% 89 30.3% 0 - probably_damaging(0.966) deleterious(0.02) deleterious(0.791) HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin LAMC1 3915 genome.wustl.edu 37 1 183090976 183090976 + Missense_Mutation SNP G G T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_002293.3 +1 reviewed p.M703I 0.133 403 0.2% 330 31.5% 2 0% benign(0) deleterious(0.02) neutral(0.383) PatternScan_EGF_LAM_1,superfamily_Grow_fac_recept,PatternScan_EGF_2 KDM5B 10765 genome.wustl.edu 37 1 202710776 202710776 + Silent SNP C C A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_006618.3 -1 validated p.A888 0.017 123 0% 127 34.6% 4 0% - - - HMMPfam_PLU-1 NFASC 23114 genome.wustl.edu 37 1 204948153 204948153 + Missense_Mutation SNP G G A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_015090.3 +1 reviewed p.R641Q 0.980 26 0% 27 25.9% 0 - benign(0.121) tolerated(0.37) neutral(0.028) HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like,superfamily_SSF48726 USH2A 7399 genome.wustl.edu 37 1 216019173 216019173 + Silent SNP G G A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_206933.2 -1 reviewed p.C3016 0.002 203 0% 145 23.4% 0 - - - - NULL TRIM67 440730 genome.wustl.edu 37 1 231349681 231349681 + Silent SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_001004342.3 +1 validated p.D748 0.451 89 0% 81 39.5% 0 - - - - HMMPfam_SPRY,superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00449 LYST 1130 genome.wustl.edu 37 1 235956908 235956908 + Silent SNP G G A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_000081.2 -1 reviewed p.C1337 1.000 219 0% 188 36.7% 0 - - - - NULL OR2B11 127623 genome.wustl.edu 37 1 247614947 247614947 + Missense_Mutation SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_001004492.1 -1 provisional p.C113Y 0.000 72 0% 61 34.4% 0 - probably_damaging(0.986) deleterious(0.01) deleterious(0.840) HMMPfam_7tm_1,superfamily_SSF81321 OR2T12 127064 genome.wustl.edu 37 1 248458625 248458625 + Missense_Mutation SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_001004692.1 -1 provisional p.G86R 0.007 186 0% 171 26.9% 0 - possibly_damaging(0.951) tolerated(0.06) deleterious(0.717) HMMPfam_7tm_1,superfamily_SSF81321 APOB 338 genome.wustl.edu 37 2 21228846 21228846 + Missense_Mutation SNP T T C novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_000384.2 -1 reviewed p.R3632G 0.203 171 0% 123 37.4% 0 - benign(0.059) - - NULL KLHL29 114818 genome.wustl.edu 37 2 23865262 23865262 + Missense_Mutation SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b ENST00000486442 +1 known p.A161V 1.000 28 0% 26 34.6% 0 - benign(0.004) deleterious(0) neutral(0.445) NULL GPR113 165082 genome.wustl.edu 37 2 26532957 26532957 + Missense_Mutation SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_001145168.1 -1 validated p.R1032H 0.008 130 0% 87 16.1% 0 - benign(0.046) tolerated(0.17) neutral(0.061) NULL GPR113 165082 genome.wustl.edu 37 2 26537311 26537311 + Missense_Mutation SNP G G A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_001145168.1 -1 validated p.A368V 0.054 116 0% 117 32.5% 0 - benign(0.001) tolerated(0.44) neutral(0.013) NULL THADA 63892 genome.wustl.edu 37 2 43520117 43520117 + Silent SNP T T C novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_001083953.1 -1 validated p.S1558 0.181 81 0% 90 18.9% 9 0% - - - NULL KANSL3 55683 genome.wustl.edu 37 2 97275253 97275253 + Missense_Mutation SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_001115016.1 -1 validated p.V456M 1.000 712 0% 543 11.2% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_SSF53474 HS6ST1 9394 genome.wustl.edu 37 2 129025860 129025860 + Missense_Mutation SNP C C T rs147436494 by1000genomes TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_004807.2 -1 reviewed p.R371H 1.000 30 3.3% 25 24% 4 0% probably_damaging(0.999) tolerated(0.06) deleterious(0.813) HMMPfam_HS6ST TUBA3E 112714 genome.wustl.edu 37 2 130951559 130951559 + Silent SNP G G A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_207312.2 -1 validated p.L286 1.000 228 0% 193 21.8% 0 - - - - superfamily_Tub_FtsZ_C,HMMPfam_Tubulin_C LOC100127989 100127989 genome.wustl.edu 37 2 132294420 132294420 + Missense_Mutation SNP A A G novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b XM_001724172.1 -1 model p.I78T 1.000 76 1.3% 72 15.3% 0 - - - - NULL BAZ2B 29994 genome.wustl.edu 37 2 160206389 160206389 + Nonsense_Mutation SNP G G A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_013450.2 -1 validated p.R1565* 0.996 213 0% 218 17% 0 - - - - NULL XIRP2 129446 genome.wustl.edu 37 2 168067298 168067298 + Missense_Mutation SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_152381.4 +1 validated p.R206W 0.000 119 0% 111 38.7% 0 - benign(0) deleterious(0.04) neutral(0.349) NULL XIRP2 129446 genome.wustl.edu 37 2 168115175 168115177 + In_Frame_Del DEL AAT AAT - novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 AAT AAT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_001079810.2 +1 validated p.N710in_frame_del 1.000:1.000:1.000 - - - - - - - - - NULL MYO3B 140469 genome.wustl.edu 37 2 171258202 171258202 + Nonsense_Mutation SNP G G A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b ENST00000317915 +1 known p.W709* 1.000 53 0% 56 33.9% 0 - - - - HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases RAPGEF4 11069 genome.wustl.edu 37 2 173883403 173883403 + Silent SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_007023.3 +1 validated p.C676 1.000 294 0% 218 30.7% 0 - - - - HMMPfam_RA,superfamily_Ras GEF OSBPL6 114880 genome.wustl.edu 37 2 179226510 179226510 + Nonsense_Mutation SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_145739.1 +1 reviewed p.Q423* 0.996 157 0% 140 20.7% 0 - - - - NULL TTN 7273 genome.wustl.edu 37 2 179643956 179643956 + Missense_Mutation SNP C C A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_133379.3 -1 reviewed p.K1321N 1.000 146 0.7% 100 36% 0 - benign(0.29) - - HMMSmart_IGc2,HMMPfam_I-set,superfamily_SSF48726 CCDC150 284992 genome.wustl.edu 37 2 197590730 197590730 + Silent SNP A A G novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_001080539.1 +1 provisional p.A821 0.942 135 0% 144 35.4% 0 - - - - NULL ALS2CR11 151254 genome.wustl.edu 37 2 202430506 202430506 + Missense_Mutation SNP G G C novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_152525.5 -1 validated p.S308C 0.000 217 0% 218 27.1% 0 - possibly_damaging(0.945) deleterious(0.05) deleterious(0.735) NULL ACADL 33 genome.wustl.edu 37 2 211085422 211085422 + Missense_Mutation SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_001608.3 -1 reviewed p.R61Q 1.000 365 0.3% 288 18.1% 0 - probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_Acyl-CoA_dh_N,superfamily_AcylCoA_dehyd_NM FN1 2335 genome.wustl.edu 37 2 216288935 216288935 + Missense_Mutation SNP G G T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_212482.1 -1 reviewed p.L384I 1.000 114 0% 96 31.2% 1 0% benign(0.076) deleterious(0) neutral(0.450) HMMPfam_fn2,HMMSmart_SM00059,PatternScan_FN2_1,superfamily_Kringle-like UGT1A1 54658 genome.wustl.edu 37 2 234669256 234669256 + Missense_Mutation SNP G G A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_000463.2 +1 reviewed p.R108H 0.000 156 0% 132 29.5% 0 - possibly_damaging(0.939) tolerated(0.12) deleterious(0.645) HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase ITPR1 3708 genome.wustl.edu 37 3 4824380 4824380 + Silent SNP G G A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_001099952.2 +1 reviewed p.A2107 0.783 179 0% 164 32.9% 0 - - - - NULL C3orf32 51066 genome.wustl.edu 37 3 8672579 8672579 + Missense_Mutation SNP G G T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_015931.1 -1 predicted p.P124H 0.994 162 0% 112 18.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL CPNE9 151835 genome.wustl.edu 37 3 9760283 9760283 + Missense_Mutation SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_153635.2 +1 validated p.A413V 1.000 179 0% 170 17.6% 0 - probably_damaging(0.973) deleterious(0) deleterious(0.859) HMMSmart_VWA,HMMPfam_Copine,superfamily_SSF53300 CAND2 23066 genome.wustl.edu 37 3 12861680 12861680 + Missense_Mutation SNP G G A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_012298.2 +1 validated p.A921T 0.998 365 0.3% 296 30.4% 0 - possibly_damaging(0.688) deleterious(0.01) deleterious(0.651) superfamily_ARM-type_fold IQSEC1 9922 genome.wustl.edu 37 3 12942646 12942646 + Missense_Mutation SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b ENST00000435445 -1 known p.G1061S 0.002 12 0% 12 41.7% 0 - unknown(0) - - NULL LIMD1 8994 genome.wustl.edu 37 3 45636431 45636431 + Missense_Mutation SNP G G C novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_014240.2 +1 validated p.M20I 1.000 79 0% 95 29.5% 2 100% benign(0.029) deleterious(0) neutral(0.446) NULL LTF 4057 genome.wustl.edu 37 3 46497857 46497857 + Missense_Mutation SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_002343.2 -1 reviewed p.G80D 0.155 114 0% 119 13.4% 13 0% possibly_damaging(0.532) deleterious(0) deleterious(0.625) HMMPfam_Transferrin,HMMSmart_TR_FER,superfamily_SSF53850 DHX30 22907 genome.wustl.edu 37 3 47887785 47887785 + Missense_Mutation SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_138615.2 +1 reviewed p.A408V 0.017 37 0% 42 33.3% 6 33.3% benign(0.03) tolerated(0.08) neutral(0.301) NULL CELSR3 1951 genome.wustl.edu 37 3 48697842 48697842 + Silent SNP G G T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_001407.2 -1 reviewed p.V742 0.995 43 0% 36 36.1% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like FHIT 2272 genome.wustl.edu 37 3 59737980 59737980 + Missense_Mutation SNP G G A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_002012.2 -1 reviewed p.A139V 0.948 68 0% 47 21.3% 15 13.3% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_HIT-like GOLGB1 2804 genome.wustl.edu 37 3 121413318 121413318 + Silent SNP G G A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_004487.3 -1 validated p.L2013 0.998 409 0% 281 17.4% 8 0% - - - superfamily_Prefoldin GATA2 2624 genome.wustl.edu 37 3 128199957 128199957 + Missense_Mutation SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_001145661.1 -1 reviewed p.G450R 0.998 119 0% 125 15.2% 15 13.3% probably_damaging(0.997) deleterious(0.02) deleterious(0.849) NULL ANKUB1 389161 genome.wustl.edu 37 3 149485656 149485656 + Silent SNP G G A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_001144960.1 -1 predicted p.L265 0.980 129 0% 140 16.4% 2 0% - - - HMMSmart_SM00248,superfamily_Ankyrin repeat IGSF10 285313 genome.wustl.edu 37 3 151164292 151164292 + Silent SNP G G A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_178822.4 -1 validated p.N1159 0.000 305 0% 302 33.1% 0 - - - - NULL MFSD1 64747 genome.wustl.edu 37 3 158519835 158519835 + Missense_Mutation SNP G G A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b ENST00000415822 +1 known p.S14N 0.034 27 0% 16 37.5% 0 - benign(0) - - NULL WDR49 151790 genome.wustl.edu 37 3 167293741 167293741 + Missense_Mutation SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_178824.3 -1 provisional p.V151I 0.987 181 0% 180 18.9% 3 33.3% benign(0.287) tolerated(0.48) neutral(0.099) HMMSmart_SM00320,superfamily_WD40 repeat-like LRRIQ4 344657 genome.wustl.edu 37 3 169540030 169540032 + In_Frame_Del DEL CTC CTC - novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_001080460.1 +1 provisional p.S110in_frame_del 0.000:0.000:0.000 - - - - - - - - - superfamily_SSF52058 ACTL6A 86 genome.wustl.edu 37 3 179304362 179304362 + Missense_Mutation SNP A A T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_004301.3 +1 reviewed p.N384I 1.000 248 0% 253 37.2% 38 31.5% benign(0.215) deleterious(0.01) neutral(0.427) HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain TRA2B 6434 genome.wustl.edu 37 3 185639878 185639878 + Missense_Mutation SNP G G A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_004593.2 -1 validated p.R187C 1.000 400 0.3% 430 27% 29 20.6% probably_damaging(0.982) deleterious(0) deleterious(0.871) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD DGKG 1608 genome.wustl.edu 37 3 185867951 185867951 + Silent SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_001346.2 -1 reviewed p.A768 0.954 177 0% 184 34.2% 0 - - - - NULL BCL6 604 genome.wustl.edu 37 3 187442758 187442758 + Nonsense_Mutation SNP G G A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_001130845.1 -1 reviewed p.R650* 1.000 186 0% 125 16% 8 0% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers MFSD10 10227 genome.wustl.edu 37 4 2934096 2934096 + Missense_Mutation SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b ENST00000503596 -1 known p.R191H 0.969 55 0% 35 31.4% 71 49.2% unknown(0) - - NULL BST1 683 genome.wustl.edu 37 4 15704840 15704840 + Silent SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_004334.2 +1 validated p.L25 0.002 6 0.000 6 0.833 0 - - - - NULL LCORL 254251 genome.wustl.edu 37 4 17886221 17886223 + In_Frame_Del DEL GAA GAA - novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 GAA GAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b ENST00000382226 -1 known p.L310in_frame_del 1.000:1.000:1.000 - - - - - - - - - NULL PACRGL 133015 genome.wustl.edu 37 4 20715115 20715115 + Missense_Mutation SNP G G A rs183601092 by1000genomes TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_145048.3 +1 validated p.V188I 0.011 433 0% 419 17.2% 6 0% benign(0.001) tolerated(0.37) neutral(0.019) HMMPfam_ParcG TBC1D1 23216 genome.wustl.edu 37 4 38029475 38029475 + Missense_Mutation SNP A A G novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_015173.2 +1 validated p.Q426R 1.000 186 0% 168 10.1% 3 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL GABRB1 2560 genome.wustl.edu 37 4 47405721 47405721 + Silent SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_000812.3 +1 reviewed p.V276 0.139 283 0% 245 34.3% 0 - - - - HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM ADAMTS3 9508 genome.wustl.edu 37 4 73149115 73149115 + Missense_Mutation SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_014243.1 -1 reviewed p.R1119K 0.124 202 0% 196 11.7% 0 - benign(0.059) deleterious(0) neutral(0.449) NULL NAP1L5 266812 genome.wustl.edu 37 4 89618520 89618520 + Missense_Mutation SNP C C A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_153757.2 -1 validated p.G129V 0.950 223 0.4% 189 16.4% 1 0% probably_damaging(0.979) tolerated(0.08) deleterious(0.722) HMMPfam_NAP ENPEP 2028 genome.wustl.edu 37 4 111397775 111397775 + Missense_Mutation SNP G G T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_001977.3 +1 validated p.G69C 0.005 132 0% 144 17.4% 1 0% benign(0.159) deleterious(0.04) neutral(0.363) NULL FAT4 79633 genome.wustl.edu 37 4 126240668 126240668 + Silent SNP C C A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_024582.4 +1 validated p.T1034 0.995 147 0% 94 37.2% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like FAM160A1 729830 genome.wustl.edu 37 4 152507836 152507836 + Missense_Mutation SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_001109977.1 +1 predicted p.T259I 0.997 178 0% 154 14.9% 0 - probably_damaging(1) tolerated(0.07) deleterious(0.819) HMMPfam_RAI16-like RNF175 285533 genome.wustl.edu 37 4 154631573 154631573 + Missense_Mutation SNP G G T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_173662.2 -1 validated p.P312H 1.000 205 0.5% 235 16.2% 6 33.3% probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL SFRP2 6423 genome.wustl.edu 37 4 154709612 154709612 + Missense_Mutation SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_003013.2 -1 reviewed p.A126T 1.000 99 0% 84 40.5% 0 - benign(0.094) tolerated(0.52) neutral(0.015) superfamily_Frizzled cysteine-rich domain,HMMPfam_Fz,HMMSmart_SM00063 RXFP1 59350 genome.wustl.edu 37 4 159573021 159573021 + Missense_Mutation SNP G G T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_021634.2 +1 provisional p.W696C 0.999 209 0% 166 38.6% 7 71.4% probably_damaging(0.987) deleterious(0) deleterious(0.881) superfamily_Family A G protein-coupled receptor-like LPCAT1 79888 genome.wustl.edu 37 5 1463948 1463948 + Missense_Mutation SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_024830.3 -1 validated p.D475N 0.991 136 0% 140 42.1% 0 - possibly_damaging(0.707) tolerated(0.27) neutral(0.288) HMMSmart_EFh,superfamily_SSF47473 DHX29 54505 genome.wustl.edu 37 5 54557246 54557248 + In_Frame_Del DEL CTT CTT - novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_019030.2 -1 validated p.E1303in_frame_del 1.000:1.000:1.000 - - - - - - - - - NULL IPO11 51194 genome.wustl.edu 37 5 61826566 61826566 + Silent SNP T T C novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_001134779.1 +1 validated p.I721 0.995 463 0% 413 14.3% 0 - - - - superfamily_ARM repeat RASA1 5921 genome.wustl.edu 37 5 86627310 86627310 + Missense_Mutation SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_002890.1 +1 reviewed p.H229Y 1.000 407 0% 337 31.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SH2,HMMSmart_SM00252,superfamily_SH2 domain APC 324 genome.wustl.edu 37 5 112163652 112163652 + Silent SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_000038.4 +1 reviewed p.C525 1.000 302 0% 302 14.2% 1 0% - - - HMMPfam_Arm,HMMSmart_SM00185,superfamily_ARM repeat APC 324 genome.wustl.edu 37 5 112179627 112179627 + Missense_Mutation SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_000038.4 +1 reviewed p.A2779V 1.000 129 0% 110 15.5% 7 0% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_EB1_binding GDF9 2661 genome.wustl.edu 37 5 132200035 132200035 + Missense_Mutation SNP G G A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_005260.3 -1 reviewed p.A64V 0.951 166 0% 161 32.3% 1 100% benign(0.011) tolerated(0.06) neutral(0.323) NULL SLC23A1 9963 genome.wustl.edu 37 5 138713985 138713985 + Missense_Mutation SNP G G C novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_152685.3 -1 reviewed p.T416S 0.446 65 0% 56 30.4% 5 20% benign(0.032) deleterious(0.04) neutral(0.350) HMMPfam_Xan_ur_permease PCDHGB1 56104 genome.wustl.edu 37 5 140731618 140731618 + Silent SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_018922.2 +1 reviewed p.N597 0.975 28 0% 24 29.2% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like CAMK2A 815 genome.wustl.edu 37 5 149610868 149610868 + Missense_Mutation SNP G G A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_015981.3 -1 reviewed p.T381M 1.000 151 0% 132 22% 0 - probably_damaging(0.983) deleterious(0) deleterious(0.873) superfamily_Protein kinase-like (PK-like),HMMPfam_CaMKII_AD CCNJL 79616 genome.wustl.edu 37 5 159707673 159707673 + Missense_Mutation SNP T T C novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_024565.5 -1 validated p.T47A 1.000 49 0% 69 15.9% 0 - benign(0.019) tolerated(1) neutral(0.001) HMMSmart_SM00385,HMMPfam_Cyclin_N,superfamily_Cyclin-like ATP10B 23120 genome.wustl.edu 37 5 159996612 159996612 + Missense_Mutation SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_025153.2 -1 validated p.V1277I 0.327 157 0% 154 37.7% 0 - possibly_damaging(0.592) tolerated(0.1) deleterious(0.491) NULL HMMR 3161 genome.wustl.edu 37 5 162902651 162902651 + Missense_Mutation SNP T T C novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_001142556.1 +1 reviewed p.L414S 0.071 278 0.4% 209 32.1% 0 - probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL RANBP17 64901 genome.wustl.edu 37 5 170319411 170319411 + Missense_Mutation SNP G G A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_022897.2 +1 provisional p.V93M 1.000 263 0.4% 231 31.2% 0 - possibly_damaging(0.455) deleterious(0) deleterious(0.594) HMMPfam_IBN_N,superfamily_ARM repeat GNB2L1 10399 genome.wustl.edu 37 5 180665102 180665102 + Silent SNP G G T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b ENST00000507756 -1 known p.S189Y 1.000 127 0% 152 35.5% 4272 44.6% - - - HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 GPLD1 2822 genome.wustl.edu 37 6 24437437 24437437 + Missense_Mutation SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_001503.2 -1 reviewed p.A701T 0.000 101 0% 124 37.1% 0 - benign(0) tolerated(1) - superfamily_Integrin alpha N-terminal domain DNAH8 1769 genome.wustl.edu 37 6 38877486 38877486 + Missense_Mutation SNP A A G novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_001371.2 +1 validated p.M3019V 0.199 167 0% 185 38.9% 0 - benign(0) tolerated(0.51) neutral(0.009) superfamily_P-loop containing nucleoside triphosphate hydrolases TDRD6 221400 genome.wustl.edu 37 6 46657424 46657425 + Frame_Shift_Del DEL TG TG - novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 TG TG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_001010870.2 +1 validated p.C521fs 0.987:0.950 - - - - - - - - - HMMPfam_TUDOR DPPA5 340168 genome.wustl.edu 37 6 74063670 74063670 + Silent SNP G G T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_001025290.1 -1 provisional p.T66 0.384 39 0% 44 34.1% 0 - - - - superfamily_SSF54791 FILIP1 27145 genome.wustl.edu 37 6 76022259 76022259 + Missense_Mutation SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_015687.2 -1 validated p.V1097M 0.011 130 0.8% 146 21.2% 2 0% benign(0.296) tolerated(0.09) neutral(0.388) NULL NCOA7 135112 genome.wustl.edu 37 6 126203642 126203642 + Missense_Mutation SNP A A G novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_181782.3 +1 validated p.E215G 1.000 138 0% 147 37.4% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL MED23 9439 genome.wustl.edu 37 6 131948559 131948559 + Nonsense_Mutation SNP G G A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_004830.2 -1 reviewed p.Q46* 1.000 215 0% 199 29.6% 1 0% - - - NULL ADGB 79747 genome.wustl.edu 37 6 147055153 147055153 + Silent SNP A A G novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_024694.3 +1 provisional p.K927 0.982 253 0% 270 17.8% 0 - - - - HMMPfam_IQ TIAM2 26230 genome.wustl.edu 37 6 155451422 155451422 + Silent SNP C C A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_012454.3 +1 reviewed p.S355 0.999 116 0.9% 94 29.8% 0 - - - - NULL DLL1 28514 genome.wustl.edu 37 6 170592538 170592538 + Missense_Mutation SNP G G A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_005618.3 -1 reviewed p.T610M 0.994 336 0% 278 10.4% 4 0% probably_damaging(0.999) tolerated(0.05) deleterious(0.836) NULL SDK1 221935 genome.wustl.edu 37 7 4014109 4014109 + Silent SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_152744.3 +1 validated p.I642 0.998 176 0% 169 14.2% 1 0% - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin TBX20 57057 genome.wustl.edu 37 7 35288447 35288447 + Missense_Mutation SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_001077653.2 -1 reviewed p.M129I 1.000 74 0% 66 30.3% 0 - possibly_damaging(0.642) deleterious(0) deleterious(0.669) HMMPfam_T-box,HMMSmart_TBOX,superfamily_P53_like_DNA_bnd PKD1L1 168507 genome.wustl.edu 37 7 47933563 47933563 + Missense_Mutation SNP G G A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_138295.2 -1 reviewed p.H789Y 0.987 58 0% 77 18.2% 0 - possibly_damaging(0.915) tolerated(0.35) neutral(0.387) HMMPfam_REJ ELN 2006 genome.wustl.edu 37 7 73458249 73458249 + Silent SNP A A G novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_000501.2 +1 reviewed p.P156 0.997 150 0.7% 175 21.7% 1 0% - - - NULL LAT2 7462 genome.wustl.edu 37 7 73639055 73639055 + Missense_Mutation SNP G G C novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_014146.3 +1 reviewed p.A239P 0.012 26 0% 39 12.8% 3 0% probably_damaging(0.981) deleterious(0) deleterious(0.870) NULL LMTK2 22853 genome.wustl.edu 37 7 97816231 97816231 + Missense_Mutation SNP C C G novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_014916.3 +1 reviewed p.R307G 0.999 249 0% 189 30.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) TRRAP 8295 genome.wustl.edu 37 7 98575901 98575901 + Missense_Mutation SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_003496.2 +1 validated p.P2793L 1.000 209 0% 201 34.8% 2 50% benign(0.001) tolerated(0.62) neutral(0.004) superfamily_ARM repeat,superfamily_Protein prenylyltransferase LAMB1 3912 genome.wustl.edu 37 7 107605115 107605115 + Missense_Mutation SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_002291.2 -1 reviewed p.G527D 1.000 168 0% 158 20.9% 6 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Laminin_EGF,HMMSmart_SM00180,superfamily_EGF/Laminin CADPS2 93664 genome.wustl.edu 37 7 122120908 122120908 + Missense_Mutation SNP T T C novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_017954.10 -1 reviewed p.K620R 1.000 240 0% 197 28.9% 0 - benign(0) tolerated(0.83) neutral(0.001) NULL HIPK2 28996 genome.wustl.edu 37 7 139299155 139299155 + Missense_Mutation SNP A A C novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b ENST00000263551 -1 known p.S623A 1.000 230 0.4% 194 13.9% 4 0% benign(0.001) tolerated(0.39) neutral(0.016) NULL EPHA1 2041 genome.wustl.edu 37 7 143088764 143088764 + Missense_Mutation SNP A A T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_005232.4 -1 reviewed p.F934Y 1.000 51 0% 37 24.3% 37 43.2% probably_damaging(0.955) deleterious(0.01) deleterious(0.804) HMMPfam_SAM_1,HMMSmart_SM00454,superfamily_SAM/Pointed domain SLC4A2 6522 genome.wustl.edu 37 7 150765087 150765087 + Missense_Mutation SNP G G A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_003040.3 +1 validated p.V365M 1.000 70 0% 39 46.2% 5 40% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_Band_3_cyto,superfamily_Phoshotransferase/anion transport protein UBE3C 9690 genome.wustl.edu 37 7 157060444 157060444 + Missense_Mutation SNP A A G novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_014671.2 +1 validated p.S1083G 1.000 170 0% 140 32.9% 8 37.5% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_HECT,HMMSmart_SM00119 NCAPG2 54892 genome.wustl.edu 37 7 158476040 158476040 + Silent SNP G G A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b ENST00000441982 -1 known p.T94M 0.200 163 0% 161 33.5% 1 100% - - - NULL DLGAP2 9228 genome.wustl.edu 37 8 1645418 1645418 + Missense_Mutation SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_004745.3 +1 reviewed p.R888W 1.000 23 0% 24 29.2% 0 - probably_damaging(0.988) deleterious(0) deleterious(0.882) HMMPfam_GKAP KIAA1456 57604 genome.wustl.edu 37 8 12878653 12878653 + Missense_Mutation SNP C C A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_020844.2 +1 validated p.D155E 0.972 122 0% 114 12.3% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_S-adenosyl-L-methionine-dependent methyltransferases DLC1 10395 genome.wustl.edu 37 8 12957996 12957996 + Missense_Mutation SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_182643.2 -1 reviewed p.R617Q 0.997 35 0% 30 33.3% 0 - benign(0.117) tolerated(0.48) neutral(0.020) NULL CDCA2 157313 genome.wustl.edu 37 8 25364162 25364162 + Silent SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_152562.2 +1 validated p.C660 0.001 59 0% 51 27.5% 3 0% - - - NULL ADRA1A 148 genome.wustl.edu 37 8 26722358 26722358 + Silent SNP A A G novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_033303.3 -1 reviewed p.G43 0.963 158 0% 146 31.5% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 MTFR1 9650 genome.wustl.edu 37 8 66619444 66619444 + Silent SNP A A G novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_014637.3 +1 reviewed p.L239 0.983 124 0% 124 18.5% 3 33.3% - - - HMMPfam_DUF729 KCNB2 9312 genome.wustl.edu 37 8 73480055 73480055 + Missense_Mutation SNP G G A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_004770.2 +1 reviewed p.R29Q 0.998 84 0% 84 34.5% 0 - benign(0.396) tolerated(0.06) neutral(0.450) NULL ZFHX4 79776 genome.wustl.edu 37 8 77767476 77767476 + Missense_Mutation SNP T T A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_024721.4 +1 validated p.F2728L 0.264 95 0% 73 32.9% 0 - benign(0.019) - - NULL RALYL 138046 genome.wustl.edu 37 8 85441646 85441646 + Silent SNP G G A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_001100391.1 +1 validated p.T43 0.970 146 0% 183 30.6% 0 - - - - HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD SLC7A13 157724 genome.wustl.edu 37 8 87226684 87226684 + Silent SNP T T C novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_138817.2 -1 validated p.Q457 0.201 281 0% 237 16% 0 - - - - NULL PLEKHF2 79666 genome.wustl.edu 37 8 96166622 96166622 + Missense_Mutation SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_024613.3 +1 validated p.T117M 1.000 154 0% 118 34.7% 2 50% possibly_damaging(0.857) tolerated(0.06) deleterious(0.653) HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 SAMD12 401474 genome.wustl.edu 37 8 119452147 119452147 + Silent SNP G G T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_207506.2 -1 validated p.V82 1.000 222 0% 205 18.5% 0 - - - - HMMSmart_SAM,superfamily_SAM_homology,HMMPfam_SAM_2 KCNQ3 3786 genome.wustl.edu 37 8 133186491 133186491 + Missense_Mutation SNP G G A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_004519.2 -1 reviewed p.P347S 1.000 108 0% 99 37.4% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Ion_trans,superfamily_SSF81324 COL22A1 169044 genome.wustl.edu 37 8 139618624 139618624 + Silent SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b ENST00000341807 -1 known p.G597R 1.000 111 0% 103 13.6% 1 0% - - - HMMPfam_Collagen KIAA1797 54914 genome.wustl.edu 37 9 20946762 20946762 + Silent SNP T T C novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_017794.3 +1 validated p.A1206 0.003 440 0% 423 15.1% 1 0% - - - superfamily_ARM-type_fold TEK 7010 genome.wustl.edu 37 9 27212761 27212761 + Missense_Mutation SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_000459.3 +1 reviewed p.R915C 1.000 68 0% 56 17.9% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like TAF1L 138474 genome.wustl.edu 37 9 32634873 32634873 + Missense_Mutation SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_153809.2 -1 provisional p.M235I 1.000 299 0.3% 217 16.1% 0 - possibly_damaging(0.916) deleterious(0.04) deleterious(0.716) NULL KIAA1161 57462 genome.wustl.edu 37 9 34372729 34372729 + Silent SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b ENST00000297625 -1 known p.A37 0.006 93 0% 102 13.7% 0 - - - - NULL CNTNAP3 79937 genome.wustl.edu 37 9 39088452 39088452 + Missense_Mutation SNP T T C novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_033655.3 -1 reviewed p.E1063G 0.993 244 0.4% 212 25.9% 0 - benign(0.422) tolerated(0.07) neutral(0.456) HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 TJP2 9414 genome.wustl.edu 37 9 71844136 71844136 + Missense_Mutation SNP G G A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_004817.3 +1 reviewed p.R497H 0.994 606 0% 527 16.7% 3 66.6% possibly_damaging(0.87) tolerated(0.13) deleterious(0.591) superfamily_PDZ domain-like TMC1 117531 genome.wustl.edu 37 9 75441850 75441850 + Missense_Mutation SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_138691.2 +1 reviewed p.A690V 0.743 504 0% 315 33% 4 50% benign(0.039) tolerated(0.36) neutral(0.022) NULL NTRK2 4915 genome.wustl.edu 37 9 87636328 87636328 + Silent SNP G G A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_006180.3 +1 reviewed p.P831 0.000 164 0% 101 21.8% 0 - - - - superfamily_Kinase_like OMD 4958 genome.wustl.edu 37 9 95177651 95177651 + Missense_Mutation SNP A A G novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_005014.2 -1 validated p.I350T 1.000 563 0% 519 34.1% 0 - benign(0.043) tolerated(0.17) neutral(0.061) superfamily_L domain-like NCBP1 4686 genome.wustl.edu 37 9 100405586 100405587 + Frame_Shift_Ins INS - - T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_002486.4 +1 reviewed p.R110fs 1.000:1.000 - - - - - - - - - HMMPfam_MIF4G,HMMSmart_MIF4G,superfamily_ARM-type_fold COL15A1 1306 genome.wustl.edu 37 9 101804353 101804353 + Silent SNP T T G novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_001855.3 +1 reviewed p.T846 0.988 185 0% 169 16% 7 0% - - - HMMPfam_Collagen GRIN3A 116443 genome.wustl.edu 37 9 104449173 104449173 + Missense_Mutation SNP G G A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_133445.2 -1 reviewed p.R337W 0.998 199 0% 190 18.9% 0 - possibly_damaging(0.952) tolerated(0.19) neutral(0.445) superfamily_SSF53822 ABCA1 19 genome.wustl.edu 37 9 107547723 107547723 + Missense_Mutation SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_005502.2 -1 reviewed p.R2200Q 1.000 326 0% 306 18.3% 0 - benign(0.149) tolerated(0.57) neutral(0.019) NULL IKBKAP 8518 genome.wustl.edu 37 9 111659470 111659470 + Missense_Mutation SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_003640.3 -1 reviewed p.C820Y 1.000 245 0% 257 16.3% 4 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_IKI3 DFNB31 25861 genome.wustl.edu 37 9 117186676 117186676 + Missense_Mutation SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_015404.3 -1 reviewed p.G452S 0.901 56 0% 59 37.3% 3 33.3% benign(0.037) deleterious(0) neutral(0.447) NULL PSMD5 5711 genome.wustl.edu 37 9 123586788 123586788 + Missense_Mutation SNP C C A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_005047.2 -1 reviewed p.Q330H 1.000 141 0% 121 31.4% 7 42.8% probably_damaging(0.991) tolerated(0.53) neutral(0.452) superfamily_ARM-type_fold,HMMPfam_Proteasom_PSMB SET 6418 genome.wustl.edu 37 9 131446266 131446266 + Missense_Mutation SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_001122821.1 +1 validated p.A31V 0.000 104 0% 119 18.5% 8 12.5% benign(0) tolerated(0.29) neutral(0.029) NULL CRAT 1384 genome.wustl.edu 37 9 131864771 131864773 + In_Frame_Del DEL AGG AGG - novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 AGG AGG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_000755.3 -1 reviewed p.S179in_frame_del 1.000:1.000:1.000 - - - - - - - - - HMMPfam_Carn_acyltransf,superfamily_CoA-dependent acyltransferases GPR158 57512 genome.wustl.edu 37 10 25883268 25883268 + Missense_Mutation SNP A A G novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_020752.2 +1 validated p.Y647C 1.000 508 0% 445 14.8% 0 - benign(0.002) deleterious(0.03) neutral(0.364) HMMPfam_7tm_3 WDFY4 57705 genome.wustl.edu 37 10 50025297 50025297 + Missense_Mutation SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_020945.1 +1 validated p.A1783V 0.967 44 0% 34 35.3% 0 - benign(0.002) tolerated(0.35) neutral(0.021) NULL ANXA7 310 genome.wustl.edu 37 10 75158114 75158114 + Silent SNP A A C novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_004034.2 -1 reviewed p.P28 0.298 57 0% 65 32.3% 10 10% - - - NULL SH2D4B 387694 genome.wustl.edu 37 10 82331325 82331325 + Missense_Mutation SNP G G T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_207372.2 +1 validated p.E162D 0.994 65 0% 63 39.7% 0 - probably_damaging(0.973) tolerated(0.25) neutral(0.452) NULL PTEN 5728 genome.wustl.edu 37 10 89692792 89692792 + Missense_Mutation SNP C C G novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b ENST00000371953 +1 known p.D92E 1.000 399 0% 324 29.6% 11 18.1% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II PTEN 5728 genome.wustl.edu 37 10 89720805 89720808 + Frame_Shift_Del DEL CTTT CTTT - novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 CTTT CTTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b ENST00000371953 +1 known p.T319fs 1.000:0.999:1.000:1.000 - - - - - - - - - superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_PTEN_C2 LIPA 3988 genome.wustl.edu 37 10 91007396 91007396 + Missense_Mutation SNP G G A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_000235.2 -1 reviewed p.R4W 0.009 289 0% 267 17.2% 1 0% benign(0.001) tolerated(0.05) neutral(0.345) NULL DOCK1 1793 genome.wustl.edu 37 10 129179611 129179611 + Silent SNP T T G novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b ENST00000398025 +1 known p.L1307 0.981 279 0% 245 35.9% 7 0% - - - NULL TTC40 54777 genome.wustl.edu 37 10 134743283 134743283 + Missense_Mutation SNP G G A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_173572.3 -1 validated p.R298C 0.080 89 0% 68 30.9% 2 50% probably_damaging(0.997) deleterious(0.04) deleterious(0.815) NULL SCUBE2 57758 genome.wustl.edu 37 11 9100947 9100947 + Silent SNP G G A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_020974.2 -1 validated p.D122 0.982 233 0% 171 11.1% 0 - - - - HMMSmart_SM00179,HMMSmart_SM00181,PatternScan_EGF_2,superfamily_EGF/Laminin USH1C 10083 genome.wustl.edu 37 11 17531968 17531968 + Missense_Mutation SNP T T C novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_153676.3 -1 reviewed p.D505G 1.000 125 0% 119 16.8% 0 - benign(0.011) deleterious(0) neutral(0.445) NULL MRGPRX4 117196 genome.wustl.edu 37 11 18195757 18195757 + Silent SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_054032.3 +1 validated p.S318 0.001 134 0% 127 14.2% 0 - - - - NULL WT1 7490 genome.wustl.edu 37 11 32410656 32410656 + Missense_Mutation SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_024426.3 -1 reviewed p.R501H 1.000 442 0% 446 14.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF408 79797 genome.wustl.edu 37 11 46726563 46726563 + Missense_Mutation SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_024741.2 +1 validated p.A438V 0.003 28 0.000 8 0.500 3 0% benign(0) tolerated(0.89) - HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,superfamily_SSF57667 F2 2147 genome.wustl.edu 37 11 46745000 46745000 + Missense_Mutation SNP C C G novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_000506.3 +1 reviewed p.T164S 0.009 51 0% 47 36.2% 0 - benign(0) tolerated(0.63) neutral(0.004) HMMPfam_Kringle,HMMSmart_KR,superfamily_Kringle-like,PatternScan_KRINGLE_1 MYBPC3 4607 genome.wustl.edu 37 11 47372955 47372955 + Nonsense_Mutation SNP G G A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_000256.3 -1 reviewed p.Q43* 1.000 37 2.7% 36 27.8% 0 - - - - HMMSmart_IG,HMMPfam_I-set,superfamily_SSF48726 OR4B1 119765 genome.wustl.edu 37 11 48238504 48238504 + Missense_Mutation SNP G G A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_001005470.1 +1 provisional p.S48N 0.000 346 0% 340 39.4% 0 - benign(0) tolerated(0.3) neutral(0.029) HMMPfam_7tm_1,superfamily_SSF81321 OR10AG1 282770 genome.wustl.edu 37 11 55735602 55735602 + Missense_Mutation SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_001005491.1 -1 provisional p.R113H 0.997 201 0.5% 138 35.5% 0 - benign(0.422) deleterious(0) deleterious(0.582) HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like OR5F1 338674 genome.wustl.edu 37 11 55761441 55761441 + Missense_Mutation SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_003697.1 -1 provisional p.V221I 0.002 101 0% 51 11.8% 0 - benign(0.001) tolerated(1) - HMMPfam_7tm_1,superfamily_SSF81321 PLAC1L 219990 genome.wustl.edu 37 11 59811021 59811021 + Silent SNP G G A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_173801.3 +1 provisional p.A48 0.081 413 0% 333 32.7% 0 - - - - NULL MS4A4A 51338 genome.wustl.edu 37 11 60070112 60070112 + Silent SNP G G A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_148975.1 +1 reviewed p.A156 0.000 434 0.2% 372 31.2% 3 0% - - - HMMPfam_CD20 CYBASC3 220002 genome.wustl.edu 37 11 61124702 61124702 + Missense_Mutation SNP C C A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b ENST00000426130 -1 known p.K3N 0.002 186 0% 162 14.8% 0 - unknown(0) - - NULL DAGLA 747 genome.wustl.edu 37 11 61490401 61490401 + Silent SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_006133.1 +1 validated p.C126 1.000 181 0% 126 11.9% 0 - - - - NULL INCENP 3619 genome.wustl.edu 37 11 61912539 61912539 + Missense_Mutation SNP G G A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_001040694.1 +1 validated p.R564Q 1.000 123 0% 122 27% 5 60% probably_damaging(0.998) deleterious(0.03) deleterious(0.839) NULL NRXN2 9379 genome.wustl.edu 37 11 64434867 64434867 + Silent SNP G G A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_015080.2 -1 reviewed p.A551 0.983 33 0% 34 26.5% 0 - - - - HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 SIPA1 6494 genome.wustl.edu 37 11 65418141 65418141 + Silent SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_006747.3 +1 reviewed p.L1028 0.982 18 0% 25 52% 135 38.5% - - - NULL SYT12 91683 genome.wustl.edu 37 11 66807405 66807405 + Missense_Mutation SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_177963.3 +1 reviewed p.R118W 1.000 60 0% 58 48.3% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CLCF1 23529 genome.wustl.edu 37 11 67132979 67132979 + Silent SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_013246.2 -1 reviewed p.R102 0.988 105 0% 84 31% 13 53.8% - - - superfamily_4_helix_cytokine,HMMPfam_PRF CPT1A 1374 genome.wustl.edu 37 11 68564359 68564359 + Missense_Mutation SNP C C A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_001876.3 -1 reviewed p.G246W 0.938 79 0% 71 31% 2 0% probably_damaging(0.972) deleterious(0) deleterious(0.859) HMMPfam_Carn_acyltransf,superfamily_CoA-dependent acyltransferases CCND1 595 genome.wustl.edu 37 11 69457918 69457918 + Silent SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_053056.2 +1 reviewed p.C106 1.000 44 0% 36 25% 20 35% - - - HMMSmart_SM00385,HMMPfam_Cyclin_N,superfamily_Cyclin-like SLCO2B1 11309 genome.wustl.edu 37 11 74915591 74915591 + Missense_Mutation SNP G G T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_007256.3 +1 validated p.G699V 0.000 91 0% 94 13.8% 1 0% benign(0.155) tolerated(0.06) neutral(0.336) NULL MYO7A 4647 genome.wustl.edu 37 11 76886420 76886420 + Silent SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_000260.3 +1 reviewed p.G699 0.003 61 0% 44 15.9% 1 0% - - - HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases C11orf67 28971 genome.wustl.edu 37 11 77583269 77583269 + Missense_Mutation SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_024684.2 +1 predicted p.R93W 0.209 242 0% 266 15.8% 58 5.1% probably_damaging(0.997) tolerated(0.18) deleterious(0.522) HMMPfam_DUF498,superfamily_Hypothetical protein MT938 (MTH938) ENSG00000234376 0 genome.wustl.edu 37 11 89486663 89486663 + Nonsense_Mutation SNP G G A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b ENST00000411859 -1 known p.Q158* 0.084 291 0% 237 26.6% 0 - - - - HMMPfam_HMG_box,HMMSmart_SM00398,superfamily_HMG-box FAT3 120114 genome.wustl.edu 37 11 92087472 92087472 + Missense_Mutation SNP G G A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_001008781.2 +1 validated p.D732N 0.999 130 0.8% 144 34.7% 0 - benign(0.081) tolerated(0.19) neutral(0.056) HMMPfam_Cadherin,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like KIAA1731 85459 genome.wustl.edu 37 11 93430160 93430160 + Silent SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_033395.1 +1 validated p.R694 0.000 153 0% 138 37% 0 - - - - NULL KIAA1731 85459 genome.wustl.edu 37 11 93432146 93432146 + Silent SNP A A G novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_033395.1 +1 validated p.E1356 0.569 76 0% 51 31.4% 0 - - - - NULL KIAA1377 57562 genome.wustl.edu 37 11 101833644 101833645 + Frame_Shift_Del DEL CA CA - rs7109233 byCluster;byFrequency;byHapMap;by1000genomes TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 CA CA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_020802.2 +1 validated p.I627fs 0.001:0.094 - - - - - - - - - NULL DYNC2H1 79659 genome.wustl.edu 37 11 102991255 102991255 + Missense_Mutation SNP G G A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_001080463.1 +1 reviewed p.R360Q 1.000 247 0% 179 19.6% 0 - benign(0.001) tolerated(0.72) neutral(0.002) HMMPfam_DHC_N1 TMPRSS5 80975 genome.wustl.edu 37 11 113567609 113567609 + Silent SNP T T C novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_030770.2 -1 reviewed p.G183 0.000 250 0% 231 22.1% 0 - - - - superfamily_SRCR-like CD3E 916 genome.wustl.edu 37 11 118184455 118184455 + Missense_Mutation SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_000733.3 +1 reviewed p.S129L 0.000 120 0% 100 37% 8 0% benign(0.023) tolerated(0.36) neutral(0.021) NULL CD3D 915 genome.wustl.edu 37 11 118210185 118210185 + Missense_Mutation SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_000732.4 -1 reviewed p.R144K 0.002 379 0% 482 33% 20 0% benign(0.001) tolerated(0.9) - NULL MLL 4297 genome.wustl.edu 37 11 118376962 118376962 + Missense_Mutation SNP A A C novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_005933.2 +1 validated p.H3449P 0.926 85 0% 67 17.9% 1 0% benign(0.001) - - NULL SLC2A3 6515 genome.wustl.edu 37 12 8085589 8085589 + Missense_Mutation SNP A A G novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_006931.2 -1 validated p.F88S 1.000 128 0% 97 34% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Sugar_tr,superfamily_MFS general substrate transporter RIMKLB 57494 genome.wustl.edu 37 12 8906617 8906617 + Missense_Mutation SNP G G A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_020734.2 +1 validated p.V209M 1.000 411 0.5% 424 26.2% 1 100% benign(0.217) deleterious(0) neutral(0.466) HMMPfam_RimK,superfamily_Glutathione synthetase ATP-binding domain-like KRAS 3845 genome.wustl.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T rs121913529 byCluster TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_033360.2 -1 reviewed p.G12D 1.000 274 0% 333 15.3% 0 - possibly_damaging(0.886) deleterious(0) deleterious(0.791) HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases METTL20 254013 genome.wustl.edu 37 12 31815091 31815091 + Silent SNP G G A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_001135863.1 +1 validated p.Q68 0.014 138 0% 112 35.7% 0 - - - - NULL SCAF11 9169 genome.wustl.edu 37 12 46322089 46322089 + Silent SNP A A G novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_004719.2 -1 validated p.D465 0.061 280 0% 233 12% 2 0% - - - NULL MLL2 8085 genome.wustl.edu 37 12 49447314 49447314 + Missense_Mutation SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_003482.3 -1 validated p.A262T 0.998 86 0% 72 25% 0 - unknown(0) - - HMMSmart_SM00184,HMMSmart_SM00249,superfamily_FYVE/PHD zinc finger,PatternScan_ZF_PHD_1,HMMPfam_PHD SCN8A 6334 genome.wustl.edu 37 12 52200893 52200893 + Missense_Mutation SNP G G A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_014191.2 +1 reviewed p.A1875T 1.000 48 0% 49 24.5% 0 - probably_damaging(0.99) tolerated(0.07) deleterious(0.760) NULL DCD 117159 genome.wustl.edu 37 12 55039005 55039005 + Missense_Mutation SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_053283.2 -1 reviewed p.G81R 0.000 591 0% 492 11.8% 0 - unknown(0) deleterious(0) - NULL CKAP4 10970 genome.wustl.edu 37 12 106634089 106634089 + Silent SNP G G T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_006825.3 -1 validated p.S174 0.059 59 0% 51 35.3% 8 25% - - - NULL TRPV4 59341 genome.wustl.edu 37 12 110232236 110232236 + Nonsense_Mutation SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_021625.4 -1 reviewed p.W463* 1.000 132 0% 133 15.8% 4 0% - - - NULL OAS3 4940 genome.wustl.edu 37 12 113405812 113405812 + Silent SNP C C A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_006187.2 +1 reviewed p.A979 1.000 105 0% 83 19.3% 0 - - - - HMMPfam_OAS1_C,superfamily_PAP/OAS1 substrate-binding domain MED13L 23389 genome.wustl.edu 37 12 116429262 116429262 + Missense_Mutation SNP G G A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_015335.3 -1 validated p.A1166V 1.000 146 0% 122 37.7% 1 0% probably_damaging(0.99) deleterious(0.01) deleterious(0.847) NULL MED13L 23389 genome.wustl.edu 37 12 116446488 116446488 + Missense_Mutation SNP G G T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_015335.3 -1 validated p.P577H 1.000 142 0% 137 32.8% 0 - probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL FBXW8 26259 genome.wustl.edu 37 12 117448239 117448239 + Missense_Mutation SNP G G A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_153348.2 +1 reviewed p.G451S 0.998 88 0% 101 15.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00320,superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase FLT3 2322 genome.wustl.edu 37 13 28592607 28592607 + Silent SNP G G A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_004119.2 -1 reviewed p.G846 1.000 229 0% 196 10.2% 1 0% - - - HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like FRY 10129 genome.wustl.edu 37 13 32653101 32653101 + Silent SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_023037.2 +1 validated p.L67 1.000 257 0% 239 29.3% 1 100% - - - NULL OR5AU1 390445 genome.wustl.edu 37 14 21623948 21623948 + Silent SNP G G A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_001004731.1 -1 provisional p.F79 0.000 92 0% 95 44.2% 0 - - - - superfamily_SSF81321 MYH7 4625 genome.wustl.edu 37 14 23902428 23902428 + Silent SNP G G A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_000257.2 -1 reviewed p.T70 0.006 273 0% 238 17.6% 0 - - - - HMMPfam_Myosin_N,superfamily_P-loop containing nucleoside triphosphate hydrolases HECTD1 25831 genome.wustl.edu 37 14 31575871 31575871 + Missense_Mutation SNP G G A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_015382.2 -1 validated p.L2403F 1.000 207 0% 165 32.7% 12 33.3% probably_damaging(0.976) deleterious(0.01) deleterious(0.824) HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain LRFN5 145581 genome.wustl.edu 37 14 42356253 42356253 + Missense_Mutation SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_152447.3 +1 validated p.A142V 1.000 181 0% 187 39.6% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_LRR_1,HMMSmart_LRR_TYP,superfamily_SSF52058 LRFN5 145581 genome.wustl.edu 37 14 42356273 42356273 + Missense_Mutation SNP C C A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_152447.3 +1 validated p.L149I 1.000 190 0% 183 33.3% 0 - possibly_damaging(0.678) tolerated(0.05) deleterious(0.587) HMMPfam_LRR_1,superfamily_SSF52058 FANCM 57697 genome.wustl.edu 37 14 45669075 45669075 + Missense_Mutation SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_020937.2 +1 reviewed p.S2004L 1.000 164 0% 153 35.9% 10 60% benign(0.182) deleterious(0) neutral(0.461) superfamily_RuvA domain 2-like SNAPC1 6617 genome.wustl.edu 37 14 62235384 62235384 + Nonsense_Mutation SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_003082.3 +1 validated p.R154* 0.051 230 0.4% 186 33.3% 0 - - - - HMMPfam_SNAPc_SNAP43 C14orf166B 145497 genome.wustl.edu 37 14 77332326 77332326 + Missense_Mutation SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_194287.2 +1 validated p.H423Y 0.000 315 0% 298 29.5% 0 - benign(0.118) tolerated(0.09) neutral(0.306) NULL ATP10A 57194 genome.wustl.edu 37 15 25924530 25924530 + Silent SNP G G A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_024490.3 -1 reviewed p.D1486 0.000 64 1.6% 68 17.6% 2 0% - - - NULL GABRG3 2567 genome.wustl.edu 37 15 27773095 27773095 + Missense_Mutation SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_033223.4 +1 validated p.S360F 1.000 202 0% 188 32.4% 0 - benign(0.045) deleterious(0.04) neutral(0.351) HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM RYR3 6263 genome.wustl.edu 37 15 33893707 33893707 + Silent SNP C C A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_001036.3 +1 validated p.R626 1.000 266 0% 307 30.3% 0 - - - - HMMPfam_RYDR_ITPR SPTBN5 51332 genome.wustl.edu 37 15 42143986 42143986 + Silent SNP G G A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_016642.2 -1 validated p.G3514 0.000 36 0% 22 27.3% 1 0% - - - HMMPfam_PH,HMMSmart_SM00233,HMMSmart_SM00150,superfamily_PH domain-like UBR1 197131 genome.wustl.edu 37 15 43328731 43328731 + Missense_Mutation SNP G G A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_174916.2 -1 reviewed p.L695F 1.000 225 0% 161 32.9% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL TMEM62 80021 genome.wustl.edu 37 15 43476729 43476729 + Missense_Mutation SNP A A C novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_024956.3 +1 provisional p.N626T 0.033 153 0% 136 12.5% 15 6.6% benign(0.134) tolerated(0.26) neutral(0.045) NULL MAP1A 4130 genome.wustl.edu 37 15 43814382 43814382 + Silent SNP T T C novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_002373.5 +1 reviewed p.A237 0.965 118 0.8% 131 17.6% 1 0% - - - NULL LOC100287308 100287308 genome.wustl.edu 37 15 65391911 65391911 + Missense_Mutation SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b XM_002343349.1 -1 model p.A56T 0.989 55 0% 71 16.9% 1 0% possibly_damaging(0.893) tolerated(0.54) neutral(0.359) NULL PDCD7 10081 genome.wustl.edu 37 15 65421378 65421378 + Missense_Mutation SNP G G A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_005707.1 -1 reviewed p.A334V 0.471 409 0% 323 35.9% 1 0% probably_damaging(0.99) tolerated(0.16) deleterious(0.501) NULL ISLR 3671 genome.wustl.edu 37 15 74468340 74468340 + Missense_Mutation SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_005545.3 +1 validated p.P381S 0.010 74 0% 78 15.4% 36 0% possibly_damaging(0.903) deleterious(0) deleterious(0.802) NULL SIN3A 25942 genome.wustl.edu 37 15 75693185 75693185 + Silent SNP G G A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_001145357.1 -1 reviewed p.G541 1.000 331 0.3% 285 15.4% 1 100% - - - NULL ADAMTS7 11173 genome.wustl.edu 37 15 79060540 79060540 + Silent SNP G G A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_014272.3 -1 reviewed p.H860 0.744 30 0% 29 27.6% 1 0% - - - HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat MEX3B 84206 genome.wustl.edu 37 15 82335676 82335676 + Missense_Mutation SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_032246.3 -1 provisional p.R512H 0.280 58 0% 53 13.2% 0 - probably_damaging(0.999) tolerated(0.17) deleterious(0.549) superfamily_RING/U-box AKAP13 11214 genome.wustl.edu 37 15 86122493 86122493 + Silent SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_006738.4 +1 reviewed p.D398 0.000 99 0% 98 13.3% 1 0% - - - NULL PAM16 51025 genome.wustl.edu 37 16 4393291 4393291 + Missense_Mutation SNP G G A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_016069.8 -1 provisional p.A2V 1.000 34 0% 22 31.8% 40 40% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Pam16 CDR2 1039 genome.wustl.edu 37 16 22358317 22358317 + Missense_Mutation SNP G G A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_001802.1 -1 validated p.T445I 0.899 518 0% 424 15.8% 6 16.6% possibly_damaging(0.84) tolerated(0.07) deleterious(0.641) NULL EARS2 124454 genome.wustl.edu 37 16 23555992 23555992 + Missense_Mutation SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_001083614.1 -1 provisional p.G110S 0.998 53 0% 54 38.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_tRNA-synt_1c,superfamily_SSF52374 TNRC6A 27327 genome.wustl.edu 37 16 24801003 24801003 + Missense_Mutation SNP C C G novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_014494.2 +1 reviewed p.T347S 1.000 123 0% 119 11.8% 0 - possibly_damaging(0.442) tolerated(0.16) neutral(0.204) NULL PHKB 5257 genome.wustl.edu 37 16 47698877 47698877 + Silent SNP T T C novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_000293.2 +1 reviewed p.H806 1.000 231 0% 257 30.7% 1 0% - - - HMMPfam_PHK_AB ZNF423 23090 genome.wustl.edu 37 16 49672492 49672492 + Missense_Mutation SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_015069.2 -1 reviewed p.D191N 1.000 46 2.2% 45 35.6% 0 - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) superfamily_SSF57667 BEAN 146227 genome.wustl.edu 37 16 66514579 66514579 + Silent SNP G G A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_001136106.3 +1 reviewed p.T68 0.000 26 0% 16 43.8% 0 - - - - NULL PHLPP2 23035 genome.wustl.edu 37 16 71724484 71724484 + Missense_Mutation SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_015020.2 -1 validated p.V183I 1.000 152 0% 86 64% 0 - probably_damaging(0.984) tolerated(0.06) deleterious(0.753) superfamily_PH domain-like TAF1C 9013 genome.wustl.edu 37 16 84213875 84213875 + Missense_Mutation SNP G G A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_005679.2 -1 reviewed p.L488F 0.034 29 0% 23 39.1% 3 100% benign(0.006) tolerated(0.17) neutral(0.059) NULL P2RX1 5023 genome.wustl.edu 37 17 3802962 3802962 + Missense_Mutation SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_002558.2 -1 reviewed p.E281K 0.936 208 0% 169 30.8% 0 - benign(0.069) tolerated(0.84) neutral(0.005) HMMPfam_P2X_receptor WSCD1 23302 genome.wustl.edu 37 17 6023672 6023672 + Silent SNP G G A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_015253.1 +1 validated p.S473 0.869 71 0% 40 32.5% 0 - - - - superfamily_SSF52540 TNK1 8711 genome.wustl.edu 37 17 7288008 7288008 + Missense_Mutation SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_003985.3 +1 validated p.R358C 0.987 29 0% 30 33.3% 2 50% probably_damaging(0.974) deleterious(0.01) deleterious(0.822) HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like DHRS7B 25979 genome.wustl.edu 37 17 21087118 21087118 + Missense_Mutation SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_015510.3 +1 validated p.T174M 0.998 339 0.6% 351 34.5% 51 43.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_adh_short,superfamily_NAD(P)-bd KCNJ12 3768 genome.wustl.edu 37 17 21319360 21319360 + Missense_Mutation SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_021012.4 +1 validated p.R236W 0.036 101 1% 75 12% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_IRK,superfamily_Ig_E-set ENSG00000167524 0 genome.wustl.edu 37 17 26940566 26940566 + Silent SNP G G A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b ENST00000301037 -1 known p.A72 0.396 167 0% 117 35.9% 0 - - - - NULL NSRP1 84081 genome.wustl.edu 37 17 28499584 28499584 + Missense_Mutation SNP A A G novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_032141.2 +1 validated p.R47G 1.000 142 0% 130 35.4% 4 75% probably_damaging(0.995) deleterious(0.04) deleterious(0.806) NULL ATAD5 79915 genome.wustl.edu 37 17 29185249 29185249 + Missense_Mutation SNP A A G novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_024857.3 +1 provisional p.N955S 1.000 236 0% 191 17.3% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL ACACA 31 genome.wustl.edu 37 17 35445880 35445880 + Missense_Mutation SNP T T A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_198834.1 -1 reviewed p.I2341F 1.000 405 0% 342 35.1% 10 30% probably_damaging(0.994) deleterious(0.02) deleterious(0.835) NULL PNMT 5409 genome.wustl.edu 37 17 37826423 37826425 + In_Frame_Del DEL CCT CCT - novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 CCT CCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_002686.3 +1 reviewed p.L213in_frame_del 1.000:1.000:1.000 - - - - - - - - - HMMPfam_NNMT_PNMT_TEMT,superfamily_SSF53335 ZPBP2 124626 genome.wustl.edu 37 17 38027751 38027751 + Missense_Mutation SNP G G T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_199321.2 +1 validated p.Q93H 0.999 270 0% 259 13.1% 0 - benign(0.008) tolerated(0.07) neutral(0.319) HMMPfam_Sp38 NR1D1 9572 genome.wustl.edu 37 17 38251980 38251980 + Missense_Mutation SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_021724.2 -1 provisional p.S322N 0.995 172 0% 204 34.3% 5 20% benign(0.001) tolerated(0.36) neutral(0.020) NULL ENSG00000245085 0 genome.wustl.edu 37 17 38497436 38497436 + RNA SNP A A G novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b ENST00000501561 -1 known NULL 0.994 58 1.7% 66 16.7% 7 14.2% - - - - KRTAP17-1 83902 genome.wustl.edu 37 17 39471619 39471619 + Missense_Mutation SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_031964.1 -1 reviewed p.C95Y 1.000 227 0% 181 25.4% 0 - unknown(0) - - NULL C17orf53 78995 genome.wustl.edu 37 17 42225982 42225982 + Nonsense_Mutation SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_024032.3 +1 validated p.Q271* 0.000 115 0% 97 21.6% 2 0% - - - NULL NMT1 4836 genome.wustl.edu 37 17 43175900 43175900 + Frame_Shift_Del DEL A A - novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_021079.3 +1 provisional p.K289fs 1.000 - - - - - - - - - HMMPfam_NMT,superfamily_Acyl-CoA N-acyltransferases (Nat) SPPL2C 162540 genome.wustl.edu 37 17 43923818 43923818 + Missense_Mutation SNP G G C novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_175882.2 +1 validated p.A516P 1.000 43 0% 31 32.3% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMSmart_SM00730,HMMPfam_Peptidase_A22B GOSR2 9570 genome.wustl.edu 37 17 45009562 45009562 + Silent SNP T T C novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_054022.2 +1 reviewed p.T111 0.367 86 0% 73 17.8% 23 8.6% - - - HMMPfam_V-SNARE FAM117A 81558 genome.wustl.edu 37 17 47797766 47797766 + Silent SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_030802.3 -1 validated p.T165 0.964 93 0% 80 46.3% 2 0% - - - NULL ITGA3 3675 genome.wustl.edu 37 17 48153809 48153809 + Silent SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_005501.2 +1 reviewed p.N598 1.000 69 0% 56 16.1% 12 16.6% - - - HMMPfam_Integrin_alpha2,superfamily_Integrin domains BRIP1 83990 genome.wustl.edu 37 17 59853825 59853825 + Silent SNP T T C novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_032043.1 -1 reviewed p.A678 0.943 116 0% 155 19.4% 0 - - - - NULL LRRC37A3 374819 genome.wustl.edu 37 17 62856436 62856436 + Silent SNP G G A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_199340.2 -1 provisional p.T1276 0.001 417 0% 396 34.1% 3 33.3% - - - NULL CACNG5 27091 genome.wustl.edu 37 17 64881156 64881156 + Missense_Mutation SNP G G A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_145811.1 +1 reviewed p.M209I 1.000 76 0% 57 40.4% 0 - benign(0) tolerated(0.14) neutral(0.249) NULL GPR142 350383 genome.wustl.edu 37 17 72366756 72366756 + Missense_Mutation SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_181790.1 +1 provisional p.P152L 0.959 173 0.6% 149 16.1% 0 - benign(0.026) tolerated(0.07) neutral(0.320) superfamily_SSF81321 CD300LF 146722 genome.wustl.edu 37 17 72691274 72691274 + Silent SNP A A G novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_139018.3 -1 validated p.P278 0.000 86 0% 82 30.5% 3 0% - - - NULL OTOP3 347741 genome.wustl.edu 37 17 72945386 72945386 + Missense_Mutation SNP G G A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_178233.1 +1 provisional p.G556R 0.869 74 0% 72 33.3% 0 - probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_DUF270 EVPL 2125 genome.wustl.edu 37 17 74005789 74005789 + Frame_Shift_Del DEL T T - novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_001988.2 -1 validated p.N1166fs 0.008 - - - - - - - - - NULL EVPL 2125 genome.wustl.edu 37 17 74019391 74019391 + Silent SNP G G A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_001988.2 -1 validated p.R154 0.000 125 0% 94 11.7% 1 0% - - - NULL DNAH17 8632 genome.wustl.edu 37 17 76471383 76471383 + Missense_Mutation SNP C C A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b ENST00000389840 -1 known p.G2816C 1.000 50 0% 59 28.8% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH17 8632 genome.wustl.edu 37 17 76533473 76533473 + Missense_Mutation SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b ENST00000389840 -1 known p.G923S 0.649 117 0% 87 12.6% 0 - benign(0.001) tolerated(0.27) neutral(0.034) NULL SLC38A10 124565 genome.wustl.edu 37 17 79219977 79219977 + Silent SNP G G A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_001037984.1 -1 validated p.L913 0.000 39 0% 42 26.2% 36 33.3% - - - NULL STRA13 201254 genome.wustl.edu 37 17 79977189 79977189 + Missense_Mutation SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_144998.2 -1 validated p.E53K 1.000 30 0% 25 20% 34 11.7% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_DUF2008 YES1 7525 genome.wustl.edu 37 18 732851 732851 + Frame_Shift_Del DEL C C - novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_005433.3 -1 reviewed p.G469fs 1.000 - - - - - - - - - HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like DSG1 1828 genome.wustl.edu 37 18 28913559 28913559 + Missense_Mutation SNP G G A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_001942.2 +1 reviewed p.G231D 0.102 176 0% 164 24.4% 0 - benign(0.004) tolerated(0.08) neutral(0.300) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like TRAPPC8 22878 genome.wustl.edu 37 18 29437772 29437772 + Silent SNP T T C novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_014939.3 -1 validated p.S973 0.972 127 0% 119 10.1% 3 0% - - - NULL FECH 2235 genome.wustl.edu 37 18 55218560 55218560 + Missense_Mutation SNP G G T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_001012515.2 -1 reviewed p.P381Q 1.000 241 0% 172 28.5% 3 0% probably_damaging(0.978) tolerated(0.06) deleterious(0.743) HMMPfam_Ferrochelatase,superfamily_Chelatase POLRMT 5442 genome.wustl.edu 37 19 629936 629936 + Silent SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_005035.3 -1 reviewed p.A142 0.000 44 0% 46 13% 1 0% - - - NULL C19orf21 126353 genome.wustl.edu 37 19 758475 758475 + Missense_Mutation SNP G G A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_173481.2 +1 predicted p.R510Q 0.208 47 0% 25 44% 26 38.4% benign(0) tolerated(0.4) neutral(0.016) NULL ZNF554 115196 genome.wustl.edu 37 19 2823051 2823051 + Nonsense_Mutation SNP G G T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_001102651.1 +1 validated p.G23* 0.001 95 0% 100 40% 0 - - - - NULL VAV1 7409 genome.wustl.edu 37 19 6772959 6772959 + Silent SNP T T C novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_005428.2 +1 reviewed p.L47 1.000 96 0% 77 33.8% 0 - - - - HMMPfam_CH,HMMSmart_CH,superfamily_Calponin-homology CAMSAP3 57662 genome.wustl.edu 37 19 7675602 7675602 + Missense_Mutation SNP T T C novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_001080429.2 +1 validated p.M333T 1.000 198 0% 165 33.3% 4 75% benign(0) deleterious(0) neutral(0.445) superfamily_Calponin-homology domain CH-domain KANK3 256949 genome.wustl.edu 37 19 8398950 8398961 + In_Frame_Del DEL TCGCTGTCGCCA TCGCTGTCGCCA - rs111751275 byCluster;by1000genomes TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 TCGCTGTCGCCA TCGCTGTCGCCA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_198471.2 -1 validated p.DGDS489in_frame_del 0.002:0.046:0.028:0.025:0.017:0.004:0.003:0.002:0.000:0.001:0.003:0.001 - - - - - - - - - NULL COL5A3 50509 genome.wustl.edu 37 19 10081652 10081652 + Missense_Mutation SNP G G A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_015719.3 -1 reviewed p.P1294L 0.964 289 0.3% 368 31.5% 0 - unknown(0) deleterious(0) - HMMPfam_Collagen WIZ 58525 genome.wustl.edu 37 19 15537872 15537872 + Silent SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_021241.2 -1 validated p.P334 0.027 140 0% 83 41% 4 25% - - - NULL CPAMD8 27151 genome.wustl.edu 37 19 17132956 17132956 + Missense_Mutation SNP G G T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_015692.2 -1 validated p.A90E 0.521 52 0% 84 38.1% 0 - possibly_damaging(0.604) tolerated(0.22) neutral(0.252) HMMPfam_A2M_N SLC27A1 376497 genome.wustl.edu 37 19 17599708 17599708 + Silent SNP T T C novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_198580.1 +1 provisional p.A282 0.000 26 0% 33 57.6% 1 0% - - - HMMPfam_AMP-binding,superfamily_SSF56801 PIK3R2 5296 genome.wustl.edu 37 19 18273784 18273784 + Missense_Mutation SNP G G A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_005027.2 +1 validated p.G373R 0.998 109 0% 108 32.4% 7 14.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SH2,HMMSmart_SM00252,superfamily_SH2 domain TSHZ3 57616 genome.wustl.edu 37 19 31768835 31768835 + Missense_Mutation SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_020856.2 -1 validated p.A622T 0.998 78 0% 60 25% 0 - probably_damaging(0.955) tolerated(0.33) neutral(0.423) NULL KCTD15 79047 genome.wustl.edu 37 19 34297827 34297828 + Frame_Shift_Ins INS - - T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_001129994.1 +1 validated p.I103fs 1.000:1.000 - - - - - - - - - HMMSmart_SM00225,HMMPfam_K_tetra,superfamily_POZ domain MLL4 9757 genome.wustl.edu 37 19 36216171 36216171 + Silent SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_014727.1 +1 reviewed p.L1193 1.000 78 0% 54 35.2% 0 - - - - NULL SPHK2 56848 genome.wustl.edu 37 19 49132784 49132784 + Silent SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_020126.3 +1 provisional p.S573 0.016 17 0% 18 27.8% 7 28.5% - - - NULL LHB 3972 genome.wustl.edu 37 19 49519457 49519457 + Silent SNP G G T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_000894.2 -1 reviewed p.P98 0.604 85 0% 92 35.9% 1 0% - - - HMMSmart_GHB,HMMPfam_Cys_knot,superfamily_SSF57501 PPP2R1A 5518 genome.wustl.edu 37 19 52719116 52719116 + Missense_Mutation SNP G G C novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_014225.5 +1 reviewed p.V298L 1.000 88 0% 71 32.4% 60 45% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HEAT,superfamily_ARM repeat SSC5D 284297 genome.wustl.edu 37 19 56012113 56012113 + Silent SNP G G A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_001144950.1 +1 provisional p.S853 0.000 36 0% 49 36.7% 1 0% - - - HMMPfam_SRCR,HMMSmart_SM00202,superfamily_SRCR-like CHMP2A 27243 genome.wustl.edu 37 19 59063699 59063699 + Missense_Mutation SNP G G A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_014453.2 -1 validated p.T92I 1.000 101 0% 135 35.6% 341 42.2% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_Snf7 LAMP5 24141 genome.wustl.edu 37 20 9498736 9498736 + Silent SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_012261.2 +1 validated p.P175 0.987 113 0% 132 19.7% 1 0% - - - HMMPfam_Lamp DZANK1 55184 genome.wustl.edu 37 20 18429707 18429707 + Missense_Mutation SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_001099407.1 -1 validated p.G184S 0.818 270 0% 255 14.1% 0 - benign(0.009) tolerated(0.28) neutral(0.032) NULL XRN2 22803 genome.wustl.edu 37 20 21324736 21324736 + Silent SNP G G A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_012255.3 +1 reviewed p.S473 0.462 129 0% 152 36.2% 5 0% - - - NULL CD93 22918 genome.wustl.edu 37 20 23066104 23066106 + In_Frame_Del DEL CTC CTC - novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_012072.3 -1 reviewed p.E242in_frame_del 0.048:0.087:0.110 - - - - - - - - - NULL BPIFB1 92747 genome.wustl.edu 37 20 31876632 31876632 + Silent SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_033197.2 +1 reviewed p.A67 0.000 28 0% 29 41.4% 0 - - - - HMMPfam_LBP_BPI_CETP,HMMSmart_SM00328 E2F1 1869 genome.wustl.edu 37 20 32264598 32264598 + Silent SNP G G A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_005225.2 -1 reviewed p.G418 0.019 25 0% 27 29.6% 9 22.2% - - - NULL C20orf118 140711 genome.wustl.edu 37 20 35509095 35509095 + Missense_Mutation SNP G G A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_080628.1 +1 predicted p.S127N 1.000 307 0% 279 19.4% 0 - probably_damaging(0.998) deleterious(0.05) deleterious(0.820) HMMPfam_TLD,HMMSmart_TLDc LPIN3 64900 genome.wustl.edu 37 20 39974539 39974539 + Silent SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_022896.1 +1 validated p.D32 0.960 75 0% 82 12.2% 0 - - - - HMMPfam_Lipin_N JPH2 57158 genome.wustl.edu 37 20 42788525 42788525 + Missense_Mutation SNP G G A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_020433.4 -1 reviewed p.S301L 1.000 75 0% 44 20.5% 1 0% probably_damaging(0.996) deleterious(0.02) deleterious(0.845) HMMPfam_MORN,HMMSmart_SM00698,superfamily_Histone H3 K4-specific methyltransferase SET7/9 N-terminal domain CASS4 57091 genome.wustl.edu 37 20 55027850 55027850 + Missense_Mutation SNP C C T rs186338077 by1000genomes TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_020356.3 +1 validated p.R540C 0.002 163 0% 106 11.3% 0 - benign(0.001) tolerated(0.34) neutral(0.023) HMMPfam_Serine_rich CASS4 57091 genome.wustl.edu 37 20 55028000 55028000 + Missense_Mutation SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_020356.3 +1 validated p.R590W 0.924 159 0% 124 30.6% 0 - probably_damaging(0.967) deleterious(0.02) deleterious(0.792) HMMPfam_Serine_rich COL20A1 57642 genome.wustl.edu 37 20 61956676 61956676 + Missense_Mutation SNP G G A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b ENST00000326996 +1 known p.G1124D 1.000 50 0% 37 29.7% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_Collagen CLDN17 26285 genome.wustl.edu 37 21 31538422 31538422 + Missense_Mutation SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_012131.2 -1 reviewed p.A172T 0.000 213 0% 187 19.3% 0 - benign(0.001) tolerated(0.18) neutral(0.056) HMMPfam_PMP22_Claudin IFNAR1 3454 genome.wustl.edu 37 21 34715932 34715932 + Missense_Mutation SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_000629.2 +1 reviewed p.T208M 0.000 282 0% 257 31.5% 2 0% possibly_damaging(0.551) tolerated(0.27) neutral(0.221) superfamily_Fibronectin type III KCNJ6 3763 genome.wustl.edu 37 21 39086686 39086686 + Silent SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_002240.2 -1 reviewed p.T258 0.020 175 0% 174 19% 0 - - - - HMMPfam_IRK,superfamily_Ig_E-set UFD1L 7353 genome.wustl.edu 37 22 19463043 19463043 + Missense_Mutation SNP G G A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_005659.6 -1 reviewed p.S29F 1.000 265 0% 308 17.5% 52 19.2% probably_damaging(0.971) deleterious(0) deleterious(0.857) HMMPfam_UFD1 IGLC7 28834 genome.wustl.edu 37 22 23264778 23264778 + Silent SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b ENST00000390331 +1 known p.L5 0.002 147 0% 138 34.8% 176 0.5% benign(0.001) tolerated(0.18) neutral(0.056) superfamily_Immunoglobulin APOBEC3H 164668 genome.wustl.edu 37 22 39498030 39498030 + Missense_Mutation SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_181773.3 +1 reviewed p.R176W 0.007 61 0% 57 33.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL RABL2B 11158 genome.wustl.edu 37 22 51220636 51220636 + Silent SNP G G A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_001130923.1 -1 reviewed p.D29 1.000 848 0% 843 20.5% 3 33.3% - - - HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases ARHGAP6 395 genome.wustl.edu 37 X 11157568 11157568 + Nonsense_Mutation SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_013427.2 -1 reviewed p.W780* 0.981 15 0% 15 26.7% 0 - - - - NULL TLR7 51284 genome.wustl.edu 37 X 12904696 12904696 + Missense_Mutation SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_016562.3 +1 reviewed p.R357C 0.474 101 0% 85 36.5% 0 - possibly_damaging(0.783) tolerated(0.11) deleterious(0.565) superfamily_L domain-like MAP3K15 389840 genome.wustl.edu 37 X 19389135 19389135 + Silent SNP G G A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_001001671.3 -1 validated p.F589 1.000 68 0% 46 21.7% 0 - - - - NULL DMD 1756 genome.wustl.edu 37 X 32509516 32509516 + Missense_Mutation SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_004006.2 -1 reviewed p.A834T 0.998 349 0.6% 253 33.6% 0 - benign(0.001) tolerated(0.6) neutral(0.004) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat FAM47C 442444 genome.wustl.edu 37 X 37028374 37028374 + Missense_Mutation SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_001013736.2 +1 validated p.R631C 0.000 211 0% 143 26.6% 0 - possibly_damaging(0.579) tolerated(0.06) deleterious(0.522) NULL BCOR 54880 genome.wustl.edu 37 X 39921444 39921444 + Missense_Mutation SNP T T C novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_001123385.1 -1 reviewed p.N1459S 1.000 142 0% 129 36.4% 5 60% probably_damaging(0.985) deleterious(0) deleterious(0.877) superfamily_Ankyrin repeat ZNF630 57232 genome.wustl.edu 37 X 47918043 47918043 + Silent SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_001037735.2 -1 validated p.E596 1.000 362 0% 293 35.5% 2 100% - - - superfamily_SSF57667 GRIPAP1 56850 genome.wustl.edu 37 X 48832711 48832711 + Missense_Mutation SNP G G A novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_020137.3 -1 reviewed p.A709V 0.999 25 0% 24 33.3% 14 71.4% possibly_damaging(0.5) tolerated(0.28) neutral(0.199) NULL GPKOW 27238 genome.wustl.edu 37 X 48980024 48980024 + Missense_Mutation SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_015698.4 -1 validated p.A17T 0.146 84 0% 53 18.9% 3 66.6% benign(0.372) tolerated(0.07) neutral(0.438) NULL ARHGEF9 23229 genome.wustl.edu 37 X 62875576 62875576 + Silent SNP A A G novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_015185.2 -1 reviewed p.I366 1.000 360 0% 343 13.4% 7 14.2% - - - HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 LOC100289421 100289421 genome.wustl.edu 37 X 77359752 77359752 + Missense_Mutation SNP A A T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b XM_002343831.1 -1 model p.C63S 0.000 49 0% 42 38.1% 4 75% - - - NULL RGAG1 57529 genome.wustl.edu 37 X 109695579 109695579 + Silent SNP A A G novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_020769.2 +1 validated p.P578 0.124 174 0% 150 18% 0 - - - - NULL GPR112 139378 genome.wustl.edu 37 X 135430848 135430848 + Silent SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_153834.3 +1 reviewed p.T1661 0.001 129 0% 132 31.8% 0 - - - - NULL ATP11C 286410 genome.wustl.edu 37 X 138878543 138878543 + Missense_Mutation SNP C C T novel TCGA-BG-A0VW-01A-11D-A122-09 TCGA-BG-A0VW-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae8e34ed-9c5c-4407-ac52-8e8d78cbbc39 a9cd1596-89b6-46fd-9864-8a62f47d1f8b NM_173694.4 -1 validated p.M368I 1.000 153 0% 168 11.3% 1 0% possibly_damaging(0.887) deleterious(0.02) deleterious(0.730) NULL